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Gene: Hgsnat MGI:1196297

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Gene Summary

Name:
heparan-alpha-glucosaminide N-acetyltransferase
Synonyms:
D8Ertd354e,  9430010M12Rik,  Tmem76

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Hgsnatem4(IMPC)Tcp HOM Early adult 1.55×10-06
short tibia Hgsnatem4(IMPC)Tcp HOM Early adult 4.42×10-05
decreased exploration in new environment Hgsnatem4(IMPC)Tcp HOM Early adult 6.63×10-05
abnormal cholesterol homeostasis Hgsnatem4(IMPC)Tcp HOM   Early adult 7.99×10-05
enlarged lymph nodes Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased circulating alkaline phosphatase level Hgsnatem4(IMPC)Tcp HOM Early adult 2.64×10-05
decreased circulating serum albumin level Hgsnatem4(IMPC)Tcp HOM   Early adult 6.67×10-05
abnormal lung morphology Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased circulating potassium level Hgsnatem4(IMPC)Tcp HOM Early adult 3.11×10-07
decreased total body fat amount Hgsnatem4(IMPC)Tcp HOM Early adult 1.26×10-11
increased lean body mass Hgsnatem4(IMPC)Tcp HOM Early adult 1.74×10-06
increased circulating phosphate level Hgsnatem4(IMPC)Tcp HOM Early adult 9.41×10-05
enlarged urinary bladder Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased bone mineral content Hgsnatem4(IMPC)Tcp HOM Early adult 1.07×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Histopathology

Images

11 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Gross Pathology and Tissue Collection

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9 Images

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Human diseases caused by Hgsnat mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hgsnat by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Dysphagia, Recurrent up... OMIM:252930
Retinitis Pigmentosa
Obesity ORPHA:791
Retinitis Pigmentosa 73
OMIM:616544

The table below shows human diseases predicted to be associated to Hgsnat by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphyses of the phalanges of the hand, Delayed epiphyseal ossification, Hypocalcemia... OMIM:618618
Pseudohypoparathyroidism, Type Ia
Short finger, Low urinary cyclic AMP response to PTH administration, Short metatarsal, Short meta... OMIM:103580
Analbuminemia
Recurrent lower respiratory tract infections, Increased LDL cholesterol concentration, Elevated c... OMIM:616000
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Short metacarpal, Obesity, B... OMIM:603233
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Short metatarsal, Hypocalcemia, Short meta... OMIM:612462
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Diaph... ORPHA:94089
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Failure to thri... OMIM:619868
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance ORPHA:2274
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Confusion, Dep... ORPHA:36913
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia ORPHA:94090
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Astrocytosis, Gai... ORPHA:275864
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypocalcemia, Nephrocalcinosis, Hyperphosphatemia OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Immunodeficiency 27A
Lymphadenopathy, Hypoplasia of the femoral head, Hepatosplenomegaly, Splenomegaly, Weight loss, P... OMIM:209950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Obesity, Hypoalbuminemia ORPHA:88643
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Micronodular cirrhosis, Ja... ORPHA:309854
Pseudohypoparathyroidism Type 1C
Short metacarpal, Short 4th metacarpal, Irritability, Increased bone mineral density, Depression,... ORPHA:79444
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Flared metaphysis, Metaphyseal cupping, Hypocalcemia, Hypophosphatemia, Bowing of the... OMIM:619073
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Ragged-red muscle fib... ORPHA:457050
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Hypercalciuria, Inc... OMIM:239000
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concen... OMIM:617872
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Pleural effusion, Focal segmental glomerulosclerosis, Proteinuria, Reduced renal ... OMIM:603278
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Pes cavus, Tremor, Elevated circulating creatine kinase concentration, Cognitive impairment, Dyst... OMIM:208920
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Urinary incontinence, Astrocytosis, Gait disturbance, Disinhibition, Rest... OMIM:600795
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Elevated circulating C-reactive protein concentration, Clubbing, Ele... OMIM:620632
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Short metacarpal, Short 4th metacarpal, Irritability, Increased bon... ORPHA:79443
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Blue Diaper Syndrome
Blue urine, Increased body weight, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Renal ... OMIM:307800
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypermethio... OMIM:613752
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pes cavus, Distal lower limb muscle weakness, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Progressive Non-Fluent Aphasia
Depression, Astrocytosis, Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, ... OMIM:614131
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Short palm, Micrognathia, Hyperphosph... OMIM:241410
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Calciphylaxis
Cellulitis, Hyperphosphatemia, Stage 5 chronic kidney disease, Ectopic ossification ORPHA:280062
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Upper limb muscle weakness, Gait disturbance, Gait ataxia, Basal ganglia gliosis, A... ORPHA:225154
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Chronic kidney disea... ORPHA:54370
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Nephrotic syndrome, Proteinuria, Membranoprolifer... OMIM:615008
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Sea-blue his... OMIM:607616
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis, Abnormal mitochon... ORPHA:111
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hypocalcemia, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr... ORPHA:2323
Hypophosphatemic Rickets, X-Linked Recessive
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300554
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Pes cavus, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Difficulty walking, Depression, Gait disturbance, Elevated creati... ORPHA:352470
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Irritability, Hypocalcemic seizures, Fibular bowing, Generalized aminoaciduria, Delayed ... OMIM:264700
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Arachnodactyly, Hepatosplenomeg... OMIM:619013
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles... OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Renal phosphate wasting, Delayed epiphyseal os... OMIM:241530
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy OMIM:609016
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Lympha... OMIM:267700
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Obesity, Dystonia, Elevated circulating alpha-fetoprotein concentration, Hy... OMIM:616267
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Proteinuria... OMIM:618349
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Unilateral renal agenesis, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:101800
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Genu valgum, Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung a... OMIM:618913
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Decreased body mass ... ORPHA:247585
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Failure to thrive, Hypoalbuminemia, Spleno... OMIM:616050
Immunodeficiency 43
Hypoplasia of the ulna, Lung abscess, Hypoproteinemia, Decreased circulating beta-2-microglobulin... OMIM:241600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Polyuria, Calvarial osteosclerosis, Nephrolithiasis, Achilles tendon calcification, M... OMIM:617994
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Fibronectin Glomerulopathy
Nephrotic syndrome, Microscopic hematuria, Proteinuria, Hypoalbuminemia, Renal insufficiency, Ped... ORPHA:84090
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Hyperalaninemia, Hypertrophic cardiomyopathy, Abno... OMIM:618378
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal adipose tissu... ORPHA:93160
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Writer's cramp, Depression, Emotional lability, Hypocalcemia, Hyper... ORPHA:428
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Increased renal tubular phosphate reabsorption, Hyperos... OMIM:211900
Vitamin D-Dependent Rickets, Type 2A
Rickets, Irritability, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, En... OMIM:277440
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300009
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Oculogyric crisis, Hyperuricemia, Hypoca... ORPHA:94093
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Depression, Gliosis, Abnor... ORPHA:275872
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Arachn... OMIM:616730
Hsd10 Mitochondrial Disease
Agitation, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Restlessness, Choreoat... OMIM:300438
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Respiratory ... ORPHA:656
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Decreased body weight, Focal segmental glomerulosclerosis, Nephro... OMIM:618347
Immunodeficiency 32B
Hepatomegaly, Bronchiectasis, Failure to thrive, Splenomegaly, Pneumonia, Hypoalbuminemia, Recurr... OMIM:226990
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystr... ORPHA:86816
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Failure to thrive, Lipodystrophy, Splenomegaly, Hypoal... OMIM:608776
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Head t... ORPHA:64753
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating corticosterone level, Increased circulati... OMIM:610600
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of... ORPHA:79320
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Inability to walk, Facial hypotonia, Astrocytosis, Nephrocalcinosis, Atrial s... OMIM:611087
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, ... OMIM:613561
Spastic Paraplegia Type 7
Spastic gait, Ragged-red muscle fibers, Cerebellar atrophy, Upper limb muscle weakness, Urinary u... ORPHA:99013
Slc35A2-Cdg
Osteopenia, Transient nephrotic syndrome, Hip subluxation, Abnormal long bone morphology, Cranios... ORPHA:356961
Hypomagnesemia 3, Renal
Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concen... OMIM:248250
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Decreased activity of ... OMIM:615158
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Recurrent aspiration pneumonia, Ataxia, Gliosis ORPHA:204
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Weight loss, Abnor... ORPHA:398063
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Cerebellar vermis atrophy, Gait ataxia, Hepatic bridging fibrosis, Spl... OMIM:616719
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Lymph... OMIM:308240
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Talipes, Genu recurvatum, Short metacarpal, Hypophosphatemia, Toe s... ORPHA:2611
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Irritability, Hypocalcemic seizures, Hepatomegaly, Generalized aminoaciduria, Delayed ep... ORPHA:289157
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Depression, Emotional lability, Astroc... ORPHA:282166
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Dandy-Walker malformatio... ORPHA:3032
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Increased bone... OMIM:127000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hepatomegaly, Lymphadenopathy, Hypoproteinemia, Increased tot... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Hypocalcemia, Short ribs, Failure ... OMIM:607143
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Recurrent aspiration pneumonia, Syndactyly OMIM:300484
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Proteinuria... OMIM:256300
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... OMIM:620306
Leishmaniasis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:507
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Cerebellar atrophy, Gait disturbance, Ataxia, Splen... ORPHA:2585
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Decreased beta-galactosida... OMIM:230350
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, R... OMIM:500009
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, R... ORPHA:254864
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Cardiom... OMIM:613313
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Increased mitochondrial number, Recurrent respiratory infections, Hyperglycinemia, ... OMIM:619063
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Abnormality of the lower limb, Hypoph... OMIM:193100
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S... OMIM:602390
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H... OMIM:203700
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Increased circulating beta-C-terminal tel... ORPHA:157215
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Failure to thrive, Hyponatremia, Hyperaldosteronism, Recurrent ... OMIM:264350
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Elevated ci... OMIM:614817
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating lactate dehy... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatomegaly, Lymphangiectasis, Proximal tubulopathy, Renal cyst, Failure to thrive,... OMIM:602579
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... OMIM:620085
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Hypoplastic iliac wing, Umbilical hernia, Short foot, Camptodactyly, Short palm, ... OMIM:235510
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Recurrent tonsillitis, Glucocortocoid-insensitive primary hyperaldosteronism, Incre... ORPHA:171876
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... ORPHA:103910
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial s... OMIM:617575
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hepatomegaly, Hypoalbuminemia OMIM:618805
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Pneumonia OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ... OMIM:615559
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Clubbing, Recurrent bronchopulmonary infections, Flared iliac wing... OMIM:617303
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Hyperalaninemia, Elevated circulating alanine aminotransfe... OMIM:619048
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Ataxia, Splenomegaly ORPHA:796
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalciuria, Generalized osteoporosis, Hyperphosphaturia, Nephrocalcinosis, Hyperc... ORPHA:99879
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Pontocerebellar atrophy, Atelectasis, Recurrent lower respiratory tract infec... ORPHA:258
Cog7-Cdg
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cerebellar atrop... ORPHA:79333
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Clubbing, Periostosis OMIM:614441
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Hypercalciu... OMIM:156400
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnitine concentration, Microvesicula... OMIM:212140
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal lymphangiectasia, Recurrent lower respiratory tract infections, Clubbing... OMIM:226300
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Camptodactyly, Failure to thrive, Hypoalbuminemia, Elevated circulating creatinine ... OMIM:608104
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, S... ORPHA:79312
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyponatremia OMIM:203400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue carnitine O... ORPHA:228305
Congenital Disorder Of Glycosylation, Type Iij
Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, L... OMIM:613489
Alg1-Cdg
Nephrotic syndrome, Hypoalbuminemia, Renal insufficiency ORPHA:79327
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Nephropathy, Focal segmental glomerulosclerosis, Intention tremor, Nephrotic sy... OMIM:254900
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Alg12-Cdg
Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g... ORPHA:79324
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein conc... ORPHA:158061
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypocalcemia, Hypoproteinemia, Pleural effusion, Abnormal lymphatic ... ORPHA:90362
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Decreased activity of mitochondrial complex I, Cholestasis, Decreased activity of m... OMIM:609060
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diffic... ORPHA:369840
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Depression, Cardiomyopathy, Elevated circulating creatin... OMIM:300842
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Increased bone mineral density, Cort... OMIM:620366
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Osteomalacia, Bowing of the legs ORPHA:89937
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating hepatic ... ORPHA:158057
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,... ORPHA:89936
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Irritability, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase... ORPHA:369
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Pulmonary edema, Acute kidney injury, Hematuria, Decreased glomerular filtration ra... ORPHA:340
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Lethargy,... OMIM:619064
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Hyperaldosteronism OMIM:177735
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymph... OMIM:613101
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Myopathy With Extrapyramidal Signs
Hypervalinemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty... OMIM:615673
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Renal phosphate ... ORPHA:352540
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor OMIM:609153
Niemann-Pick Disease, Type A
Irritability, Hepatomegaly, Sea-blue histiocytosis, Lymphadenopathy, Inability to walk, Bone-marr... OMIM:257200
Cockayne Syndrome Type 3
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydroureter, Unilateral re... ORPHA:90324
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re... ORPHA:1652
Drug-Induced Lupus Erythematosus
Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:231111
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Depression, Parathormone-independent increased renal tubular calc... OMIM:600740
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Thin long bone dia... ORPHA:93325
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoalbuminemia, Diffuse mesangial scler... OMIM:615244
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Aicardi-Goutieres Syndrome 9
Irritability, Hepatomegaly, Glomerular sclerosis, Renal insufficiency, Osteoporosis, Failure to t... OMIM:619487
Liver Failure, Infantile, Transient
Irritability, Dicarboxylic aciduria, Hepatomegaly, Hyperbilirubinemia, 3-hydroxydicarboxylic acid... OMIM:613070
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cardiomyopathy... ORPHA:26791
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly, Reduced lysosomal acid lipase activity OMIM:620151
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... OMIM:613845
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Respiratory tract infection, Splenomegaly, Lymphope... ORPHA:444463
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Hyperuricemia, Increased hepatic glycogen conten... OMIM:261750
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph... OMIM:612287
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Gliosis, Increased serum pyruvate, Cerebellar atrophy, Hypertrophic cardiomyopathy,... OMIM:604377
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Proximal tu... OMIM:212065
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Fanconi Renotubular Syndrome 1
Rickets, Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy... OMIM:134600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat... OMIM:612286
Mpi-Cdg
Failure to thrive, Hepatomegaly, Hypoalbuminemia ORPHA:79319
Barth Syndrome
3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Recurrent bronchitis, Endocardial fib... OMIM:302060
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Cerebellar atrophy, Elevated circulatin... ORPHA:352447
Wolcott-Rallison Syndrome
Hepatomegaly, Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Metaphysea... ORPHA:1667
Avian Influenza
Pneumothorax, Acute kidney injury, Elevated circulating C-reactive protein concentration, Pleural... ORPHA:454836
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss, Steatorrhea ORPHA:2070
Aicardi-Goutieres Syndrome 6
Irritability, Hepatomegaly, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hemolytic anemia OMIM:615010
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hepatomegaly, Lymphadenopathy, Abnormal renal physiology, Splenomegaly, Hyp... ORPHA:540
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Hypocalcemia, Abnormality of the lower limb, Confusion, Elevated circulating... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Pleural effusion, Hyponatremia, Micrognathia, Hypom... OMIM:618183
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetab... OMIM:620076
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Ataxia, Hyperactivity OMIM:615924
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, ... OMIM:612126
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Babesiosis
Anorexia, Hepatomegaly, Jaundice, Recurrent pharyngitis, Depression, Leukopenia, Splenomegaly, Th... ORPHA:108
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Argininosuccinic aciduria, Portal... OMIM:603471
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia ORPHA:367
Fanconi-Bickel Syndrome
Rickets, Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Generalized aminoaci... OMIM:227810
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a... OMIM:613388
Fanconi-Bickel Syndrome
Rickets, Hypertriglyceridemia, Osteopenia, Hepatomegaly, Generalized aminoaciduria, Renal tubular... ORPHA:2088
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Cerebellar a... OMIM:610333
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa... ORPHA:247353
Mirage Syndrome
Rocker bottom foot, Hyperkalemia, Radial club hand, Hypospadias, Decreased body weight, Aspiratio... OMIM:617053
Cockayne Syndrome Type 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Foot joint contrac... ORPHA:90321
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Failure to thrive, Hyponatremia, Decreased circulating cortisol... OMIM:614736
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... OMIM:306000
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Increased circulating cortisol lev... ORPHA:249
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pleural effusion, Hyperlipidemia, Focal segmental glomeruloscl... ORPHA:567546
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Dystonia, Failure to thrive in in... OMIM:617595
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hepatomegaly, Decreased circulating carnitine concentration, Decreased activity of ... OMIM:618235
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Lymphadenopathy, Hypocalcemia, Cachexia, Decreased circulating ... ORPHA:37042
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly, Dysphagia, Recurrent respiratory infections ORPHA:77260
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Abnormal mi... ORPHA:17
Wilson Disease
Limb dystonia, Splenomegaly, High nonceruloplasmin-bound serum copper, Chondrocalcinosis, Decreas... OMIM:277900
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ... ORPHA:289176
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Splenomegaly, Hemoly... OMIM:614470
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic a... OMIM:620603
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Organic aciduria, Propionyl-CoA carboxylase deficiency, Hyperammonemia ORPHA:35
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Hyperactivity, Asymmetric se... OMIM:252920
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas... ORPHA:890
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j... OMIM:274150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Depression, Decreased body weight, Failure to thri... ORPHA:89842
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Hyperlipidemia, Cardiomyopathy... ORPHA:157
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex... ORPHA:682
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, Decrea... OMIM:615578
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Cystic Echinococcosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal subp... ORPHA:400
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Decreased activity of mitoch... OMIM:614299
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Depression, Decreased beta-glucocerebrosidase level, Thrombocytopenia... OMIM:231000
Cystinosis
Rickets, Hypokalemia, Nephropathy, Failure to thrive, Hypophosphatemia, Proteinuria, Renal insuff... ORPHA:213
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ... OMIM:614034
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Colpocephaly, Renal cyst OMIM:614870
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Decreased circulating carnit... OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Recurrent aspiration pneumonia, Toe syndactyly, Short tibia OMIM:258865
Xfe Progeroid Syndrome
Pes cavus, Cachexia, Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutane... OMIM:610965
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:570422
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Increased circulating ferritin concentration, Elevated circulating ... ORPHA:101330
Mitochondrial Complex I Deficiency, Nuclear Type 5
Irritability, Hepatomegaly, Decreased activity of mitochondrial complex I, Cerebellar atrophy, At... OMIM:618226
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Opsismodysplasia
Rhizomelia, Renal phosphate wasting, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone... OMIM:258480
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Confusion, Elevated circulating creatine kinase ... ORPHA:466650
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Hepatomegaly, Elevated circulating hepatic transam... OMIM:608799
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,... OMIM:619743
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... ORPHA:905
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Hyperammonemia, Renal insufficiency, Lethargy ORPHA:28
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:619802
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hepatomegaly, Hypouricemia, Glycosuria, Hyperphosphaturia, Ne... OMIM:616026
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypospadias, Galactosuria, Hypermethioninemia, Hyp... OMIM:222470
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic... ORPHA:159
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury ORPHA:57
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Leukopenia... ORPHA:27
Galloway-Mowat Syndrome 1
Pes cavus, Hiatus hernia, Camptodactyly, Slender finger, Focal segmental glomerulosclerosis, Neph... OMIM:251300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Hematuria, Small for gestational age OMIM:617021
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Camptodactyly, Nephrotic syndrome, Failure to thrive, Micrognathia, Arachno... OMIM:617729
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Palmoplantar keratoderma, Hypoalbuminemia, Recurrent respirator... OMIM:615508
Microcephaly, Amish Type
Irritability, Hepatomegaly, Limb hypertonia, Cerebellar vermis hypoplasia, Flexion contracture, C... OMIM:607196
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Beta-Thalassemia
Irritability, Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic... ORPHA:848
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hyperammonemia, Hydronephrosis, Conjugated hyperbilirubinemia, Decreased serum... OMIM:617093
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Congenital Enterovirus Infection
Hypoalbuminemia, Irritability, Pleural effusion, Hyperammonemia ORPHA:292
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Hepatomegaly, Increased circulating NT-proBNP concent... ORPHA:85443
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anorexia, Pancytopeni... ORPHA:77259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Hyperlipidemia, Cardiomyopathy... ORPHA:228308
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Hypercalciuria, Failure to thrive, Hyperphosphaturia, Hyperca... OMIM:239200
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalce... ORPHA:251004
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Weight loss ORPHA:2494
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Hyperammonemia, Thrombocytopenia, ... ORPHA:289916
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Multiple renal cysts, Abnormal... ORPHA:2924
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Bradykinesia, Hepatomegaly, Macrovesicular hepatic steatosis, Ragged-... OMIM:614924
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Free Sialic Acid Storage Disease
Hepatomegaly, Athetosis, Ascites, Gait disturbance, Nephrotic syndrome, Ataxia, Proteinuria, Sple... ORPHA:834
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
B4Galt1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym... ORPHA:79332
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Argininemia
Anorexia, Irritability, Spastic gait, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase... OMIM:207800
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Waddling ga... OMIM:602541
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Agitation, Increas... ORPHA:100924
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial complex I, Hy... OMIM:618234
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Polyphagia, Hypertrophic cardiomyo... ORPHA:276556
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper... OMIM:269920
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Difficulty walking, Neurogenic b... OMIM:500013
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent respiratory infections, Recurrent bronchi... OMIM:300853
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Spastic gait, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Truncal... OMIM:238970
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Recurrent... OMIM:617514
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H... OMIM:608836
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati... OMIM:615234
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Polyphagia, Hypertrophic cardiomyo... ORPHA:276575
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinus... OMIM:620282
Abetalipoproteinemia
Osteopenia, Pes cavus, Distal lower limb muscle weakness, Decreased HDL cholesterol concentration... ORPHA:14
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... OMIM:614576
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Pleural empyema, Pleural effusion, Weight loss, Hypoalbuminemia ORPHA:67
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:201450
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Anemia, Hemolytic-... OMIM:612925
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Splenomegaly, Overlapping toe, Hypocholesterolemia, Talipes calcaneo... OMIM:270400
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Difficulty walking, Myoglobinuria, Lower limb muscle w... OMIM:251900
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Ren... OMIM:255120
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612926
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Paroxysmal Nocturnal Hemoglobinuria
Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Unconjugated hyperbilirub... ORPHA:447
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive, Progressive neurologic deteriora... OMIM:618329
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Lympha... ORPHA:667
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Hyperactivity, Asymme... OMIM:252900
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Ataxia, Skeletal muscle atrophy, Splenomegaly, Decreased beta-galactosidase activity OMIM:230650
Caroli Disease
Cholestasis, Biliary cirrhosis, Ascites, Splenomegaly, Anorexia, Intrahepatic cholestasis, Jaundi... ORPHA:53035
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Farber Lipogranulomatosis
Irritability, Lipogranulomatosis, Hepatomegaly, Decreased acid ceramidase activity, Splenomegaly OMIM:228000
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612924
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Elevated urinary inosine level, Hypouricemia, Decre... OMIM:613179
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Long penis, Polycystic kidney dysplasia, Abnormal pe... ORPHA:1988
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Hepatomegaly, Emotional lability, Hyperalaninemia, Hyperammonemia, Acute hyperammonemi... ORPHA:927
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Juvenile Polyposis Syndrome
Failure to thrive, Clubbing, Hypoalbuminemia, Hypokalemia OMIM:174900
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, 3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Decreased a... OMIM:604273
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased activity of mito... OMIM:617713
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Elevated transferrin saturation, Increased circu... OMIM:606069
Optic Atrophy 11
Hyperactivity, Facial diplegia, Athetosis, Gait apraxia, Attention deficit hyperactivity disorder... OMIM:617302
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Recurrent bronchitis, Abnormal T cell count, Recurrent sinusitis, ... OMIM:240500
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Increased circ... OMIM:613673
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Elevated total serum try... ORPHA:98848
Glycogen Storage Disease Xii
Muscle fiber splitting, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose... OMIM:611881
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Familial Hypoaldosteronism
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyponatre... ORPHA:427
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Hypopho... OMIM:605911
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Cystinosis, Nephropathic
Generalized aminoaciduria, Renal Fanconi syndrome, Hypophosphatemia, Splenomegaly, Stage 5 chroni... OMIM:219800
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Ele... ORPHA:457077
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Classic Galactosemia
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Gait imbalance, ... ORPHA:79239
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Recurrent respiratory infections, Ventricula... OMIM:620210
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Agitation, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Cardiomyopathy, Ataxia, ... OMIM:619046
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Nephrotic range proteinuria, Abn... OMIM:613496
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Pleural effusion, Abnormal lung morphology, Dysphagia, Abnormal pl... ORPHA:50251
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em... OMIM:613658
Dpm1-Cdg
Muscular dystrophy, Pontocerebellar atrophy, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:79322
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Increased level of hippuric acid in urine, Pancytopenia, Limb... OMIM:606054
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Cerebellar atrophy, Hypertrophic card... ORPHA:254913
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Renal phosphate wasting, Increased circulating c... ORPHA:562
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Patent foramen ovale, Hyperalaninemia, Elevated circulating alanine aminotransferas... OMIM:614582
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr... ORPHA:156
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Joint contracture, Skeletal mus... OMIM:615704
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Elevated circulating creatinine concentration, Hy... OMIM:613095
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Nephronophthisi... OMIM:216360
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular a... OMIM:602722
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Increased circulating ferritin concentrati... ORPHA:829
Uremic Pruritus
Hypermagnesemia, Depression, Elevated total serum tryptase, Increased blood urea nitrogen, Hyperc... ORPHA:94059
Supranuclear Palsy, Progressive, 1
Bradykinesia, Irritability, Akinesia, Gait imbalance, Retrocollis, Falls, Astrocytosis, Gliosis, ... OMIM:601104
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Polyphagia, Hypertrophic cardiomyo... ORPHA:276580
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cerebellar vermis hypoplasia, Cholestasis, Splenomegaly, Chronic ... OMIM:615630
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenomegaly, Flexion con... ORPHA:505248
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hepatomegaly, Osteoporosis, S... ORPHA:186
Hypermanganesemia With Dystonia 1
Decreased liver function, Bradykinesia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tra... OMIM:613280
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Acute kidney injury, Normocytic anemia, Renal tubular epithelial necrosis, Hematuria, E... ORPHA:49041
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Isothenuria, Hypokalemia, Failure to thrive, Nephrocalcinosis, Hepatosplenomegaly, Dista... OMIM:611590
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Urinary incontinence, Increased circulating NT-p... OMIM:232300
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleural effusion, Ascites,... OMIM:617397
Legionnaires Disease
Myocarditis, Anorexia, Jaundice, Pancreatitis, Hematuria, Lymphadenopathy, Renal insufficiency, R... ORPHA:549
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Mevalonic Aciduria
Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lympha... OMIM:610377
Refractory Anemia With Excess Blasts
Bone marrow hypocellularity, Abnormal circulating albumin concentration, Pedal edema, Abnormal ci... ORPHA:86839
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia OMIM:612089
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Urinary retention, Tremor, Episodic hypokalemia, Obesit... ORPHA:79102
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Renal salt wasting, Xanthelasma, Steatorrhea, Cachexia, Cogni... ORPHA:275761
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... OMIM:619055
Infantile Nephropathic Cystinosis
Rickets, Low-molecular-weight proteinuria, Hypokalemia, Cognitive impairment, Failure to thrive, ... ORPHA:411629
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy OMIM:105200
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ... ORPHA:381
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Niemann-Pick Disease, Type C1
Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau... OMIM:257220
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Citrullinemia, Classic
Irritability, Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Oroticaciduria, Reduced tissue... OMIM:215700
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal... OMIM:619518
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Acute Adrenal Insufficiency
Hyperkalemia, Renal salt wasting, Hyperuricemia, Recurrent acute respiratory tract infection, Inc... ORPHA:95409
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ... ORPHA:470
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Recurren... OMIM:615122
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Enlarged kidney, Polycystic kid... OMIM:613091
Raine Syndrome
Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Bowing of the long bon... OMIM:259775
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:397744
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port... ORPHA:824
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
Immunodeficiency 102
Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropeni... OMIM:301082
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Unilateral renal agenesis,... OMIM:620454
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Bronchiectasis, Recurren... ORPHA:397596
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Penoscrotal hypospadias, Hypospadias, Increased circulating ren... ORPHA:90791
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he... ORPHA:264580
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma, Cholestasis, ... ORPHA:60
Orthostatic Hypotension 1
Reduced circulating dopamine beta-hydroxylase activity, Increased blood urea nitrogen, Hypomagnes... OMIM:223360
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Bronchitis, Br... OMIM:619381
Primary Sclerosing Cholangitis
Osteopenia, Hepatomegaly, Depression, Pleural effusion, Osteoporosis, Hepatosplenomegaly, Splenom... ORPHA:171
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat... OMIM:612387
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Decreased b... ORPHA:2298
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent respiratory i... OMIM:618495
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Emotional lability, Increased blood urea nitrogen, Abnormal renal physiolog... OMIM:223900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, In... OMIM:613839
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormality of the pulmonary arte... ORPHA:290
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Decreased methylmalon... OMIM:251110
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Polymyositis
Anorexia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating aldolase... ORPHA:732
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Cerebellar atrophy, Increased circulating lactate dehydrogenase concentration, Renal... OMIM:614866
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Patent foramen ovale, Aspiration pneumonia, Decreased activity of mitochondrial com... OMIM:619167
Classic Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly ORPHA:391
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Cerebellar atrophy, Gait disturbance, Unsteady gait, Dysphagia, Mac... ORPHA:412217
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, Coxa valga,... ORPHA:198
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Cirrhosis, Jaundi... ORPHA:57777
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diff... ORPHA:98907
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Familial Glucocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Failure to thrive, Hypernatriuria, Hyponatremia, Decreased circ... ORPHA:361
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Recurrent pharyngitis, Splenomegaly ORPHA:42642
Pyruvate Carboxylase Deficiency
Hyperammonemia, Ataxia, Cerebellar gliosis, Lacticaciduria, Anorexia, Tip-toe gait, Elevated plas... ORPHA:3008
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Increased level of galactito... ORPHA:79237
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Atrophic scars, Failure to thrive, Enamel hypoplasia, Hypoalbuminemia, Palmoplantar ker... ORPHA:79396
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Irritability, Hepatomegaly, Emotional lability, Decreased serum zinc, Ataxia, Splenomegaly, Low a... OMIM:201100
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus... OMIM:615415
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cerebellar hypoplasia, Ventricular septal defect, Cystic renal dysp... OMIM:613730
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Action tremor, Hypo... ORPHA:199343
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Anemia of ... OMIM:224120
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... OMIM:615486
Hereditary Renal Hypouricemia
Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Uric acid urolithiasis inde... ORPHA:94088
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Clubbing of fingers, Cachexia, Broad phalanx of the toes, Broad thumb, ... ORPHA:79076
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Cardiomyopathy, Hyperammonem... OMIM:251000
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hyperammonemia, Hepatic failure ORPHA:664
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, 4-Hydroxy... OMIM:617156
Biotinidase Deficiency
Decreased circulating biotinidase concentration, Hepatomegaly, Organic aciduria, Hyperammonemia, ... OMIM:253260
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Impaired renal tubular ... OMIM:604278
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Recu... OMIM:615387
Oculocerebrorenal Syndrome Of Lowe
Nephrocalcinosis, Hypophosphatemia, Multiple renal cysts, Umbilical hernia, Abnormal epiphysis mo... ORPHA:534
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa... OMIM:224100
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Lipoma, Hypocalciuria, Hypomagnesiuria, Reduced ratio of ... ORPHA:405
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreas... ORPHA:77293
Ethylene Glycol Poisoning
Hyperkalemia, Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfun... ORPHA:31826
Renal Tubular Acidosis Iii
Rickets, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinos... OMIM:267200
Kawasaki Disease
Irritability, Abnormal pulmonary interstitial morphology, Recurrent pharyngitis, Elevated circula... ORPHA:2331
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Renal salt wasting, Reduced bone mineral density, Abnormal circulating cholesterol ... ORPHA:168558
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys... OMIM:263520
Addison Disease
Hyperkalemia, Renal salt wasting, Generalized bone demineralization, Hyperuricemia, Increased cir... ORPHA:85138
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Dysphagia, Recurrent up... OMIM:252930
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... ORPHA:231222
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen... ORPHA:398124
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Renal salt wasting, Reduced bone mineral density, Abnormal circulating cholesterol ... ORPHA:289548
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Oliguria, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blo... ORPHA:31824
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Decrease... ORPHA:85450
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat... ORPHA:3202
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Athetosis, Hyperalaninemia, Proximal renal tubular acidosis OMIM:266150
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa... OMIM:606003
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Decreased activity of NADPH oxidase... OMIM:233690
Mucopolysaccharidosis, Type Iiid
Agitation, Hepatomegaly, Difficulty walking, Hyperactivity, Elbow flexion contracture, Cerebellar... OMIM:252940
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Pleural effusion, Secondary hyperaldosteronism, R... ORPHA:90363
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemo... ORPHA:158048
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Chédiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent... ORPHA:167
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Pneumonia ORPHA:90790
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Hepatomegaly, Reduced leukocyte alpha-mannosidase activity, Vacuolated lymphocytes, ... OMIM:248500
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Atelectasis, Rectal abscess, Decreased activity of ... OMIM:306400
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Thromboc... ORPHA:294
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased activity of mitochondrial complex I, Cholestasis, Ascites, Prolonged neonatal jaundice,... OMIM:256810
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pleural eff... ORPHA:85414
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, V... OMIM:615895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... ORPHA:26793
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,... OMIM:619433
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Typhoid
Abnormal pulmonary interstitial morphology, Hepatomegaly, Ataxia, Splenomegaly, Lethargy ORPHA:99745
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal natural... ORPHA:79124
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent respiratory infections, Reduced natural ki... OMIM:609981
Mercury Poisoning
Acute kidney injury, Hypokalemia, Confusion, Tremor, Dystonia, Interstitial pneumonitis ORPHA:330021
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Elevated circula... OMIM:619424
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Cerebellar vermis atrophy, Low frustration... ORPHA:163681
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Increased mitochondrial number, Cardiomyopathy, Ventricular hyper... ORPHA:263297
Fumarase Deficiency
Decreased fumarate hydratase activity, Perimembranous ventricular septal defect, Intrahepatic cho... OMIM:606812
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Abnormal lymphocyte morp... ORPHA:47612
Liddle Syndrome
Nephropathy, Hypokalemia, Renal insufficiency ORPHA:526
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Truncal ataxia, Gliosis, Cerebellar atrophy, Ascites, Aspiration pneumonia, Lower l... OMIM:301072
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Chronic hepat... ORPHA:465508
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... OMIM:613470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Failure to thrive, Lymph node hypoplasia, Splenomegaly, Recu... OMIM:602450
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypophosphatemi... ORPHA:263455
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber... ORPHA:79083
Argininosuccinic Aciduria
Irritability, Hepatomegaly, Oroticaciduria, Increased circulating argininosuccinic acid, Hyperamm... OMIM:207900
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Recurrent pneumonia, Intermittent thrombocytopen... OMIM:150550
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:251290
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Elevated circulating C-reactiv... OMIM:620565
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Recurrent lower respiratory tract infections, Hypokalemia, Hypocalcemia, ... OMIM:617913
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Dysphagia, Neoplasm of the lung ORPHA:1332
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased methionine synthase activity, Hepatomegaly, Anemia, Methylmalonic acidemia, Dextrocardi... OMIM:277380
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici... ORPHA:1454
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Adrenocortical Carcinoma
Irritability, Elevated serum 11-deoxycortisol, Hypokalemia, Increased body weight, Abnormality of... ORPHA:1501
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Nephritis, Nephrocalcinosis, Hypo... OMIM:104200
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol level, Failur... ORPHA:320
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration, Hypokal... OMIM:611489
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Vacuolated lym... ORPHA:565612
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Hepatosplenomegaly, Pu... ORPHA:99931
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Pleu... OMIM:618935
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney dysplasia, Hypoplasia ... OMIM:214110
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly OMIM:615085
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturia, Elevated circul... ORPHA:230
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Glutaric aciduria, Hepatomegaly, Anemia, ... OMIM:246450
Cog5-Cdg
Urinary incontinence, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Trun... ORPHA:263487
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Abnormal pleura morp... ORPHA:3162
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inability to walk, Cerebel... OMIM:225750
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ... OMIM:605479
Parathyroid Carcinoma
Lipoma, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Renal cyst, Nephrocalcino... ORPHA:143
Whipple Disease
Myocarditis, Polydipsia, Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Pleuritis, ... ORPHA:3452
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Hematuria, Lymphadenopathy, Emphysema, Abnormal heart valve morphology, Pleural eff... ORPHA:36412
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:615273
Caroli Syndrome
Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrahepatic bile d... ORPHA:480520
Marburg Hemorrhagic Fever
Lymphadenopathy, Hypokalemia, Confusion, Hyperamylasemia, Elevated circulating creatine kinase co... ORPHA:99826
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Q Fever
Elevated circulating hepatic transaminase concentration, Granuloma, Pericarditis, Splenomegaly, C... ORPHA:781
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Hepatomegaly, Anemia, Methylmaloni... OMIM:251100
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Hepatomegaly, Chronic pancreatitis, Elevat... ORPHA:98908
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circulating creatinin... OMIM:154230
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Limb muscle weakness... ORPHA:217260
Tay-Sachs Disease
Memory impairment, Depression, Increased serum beta-hexosaminidase, Tremor, Limited knee extensio... ORPHA:845
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase... OMIM:613327
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Hepatomegaly, Hypertrophic cardiomyopathy, Cerebellar hypoplasia, Hyp... OMIM:618810
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia OMIM:218030
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... ORPHA:308552
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Dermatan sulfate excretion in urine, Decreased idu... OMIM:309900
Dominant Beta-Thalassemia
Irritability, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis... ORPHA:231226
Beta-Thalassemia Major
Anisopoikilocytosis, Irritability, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anem... ORPHA:231214
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Reduced pho... OMIM:261680
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Cerebellar atrophy, Splenomegaly OMIM:618541
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Jaundice, Neuro... OMIM:608779
Tyrosinemia, Type I
Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit... OMIM:276700
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly ORPHA:79292
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Prolidase Deficiency
Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Recurrent pneumonia, T... OMIM:170100
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Hurler-Scheie Syndrome
Hepatomegaly, Dermatan sulfate excretion in urine, Camptodactyly of finger, Thenar muscle atrophy... OMIM:607015
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu... ORPHA:846
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Renal cyst, Nephrocalcino... ORPHA:99880
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Sea-blue histiocytosis, Gait disturbance, Ataxia, Dysphagia, Splenomegaly, Decrease... OMIM:230600
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting, Chondro... OMIM:154020
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Transcobalamin Ii Deficiency
Irritability, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperh... OMIM:275350
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal lung lobation, Congenital diaphragmati... ORPHA:958
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hyperalaninemia, Hypertrophic cardiomyopathy, Abno... OMIM:618250
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232220
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Hydronephrosis... OMIM:235255
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tremor, Weight loss OMIM:613239
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Lacticaciduria, Ragged-red mus... OMIM:252010
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Syndactyly, Splenomegaly, Dark urine, Elevated circulating creatinine concentration,... OMIM:619534
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal liver lobulation, Dextrocardia, Hypoplasia of penis, Abnormal he... ORPHA:99776
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Elevated circulating ribitol concentration, Pat... ORPHA:488618
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Niemann-Pick Disease Type C
Ascites, Ataxia, Splenomegaly, Dysphagia, Aggressive behavior, Jaundice, Depression, Low frustrat... ORPHA:646
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Gait disturbance, Leukopenia, ... OMIM:214500
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Facial palsy, Increased circulating lactate deh... OMIM:259700
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia... ORPHA:20
Pelizaeus-Merzbacher Disease
Inability to walk, Broad-based gait, Depression, Cerebellar vermis atrophy, Urinary urgency, Redu... OMIM:312080
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Decreased activity of... OMIM:610505
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphad... OMIM:615688
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Pleuritis, Hypocalcemia, Oliguria, Anuria, Pleural empyema, Ne... ORPHA:544482
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem... OMIM:300972
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int... OMIM:620367
Multiple Sulfatase Deficiency
Hepatomegaly, Cerebellar atrophy, Mucopolysacchariduria, Ataxia, Splenomegaly OMIM:272200
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating a... ORPHA:330001
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ... OMIM:612783
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn... OMIM:620296
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, A... ORPHA:731
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty walking, Inabil... OMIM:615356
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Femoral bowing, Arachnodactyly, Decreased circulating cortisol level, Cranios... OMIM:201750
Pearson Syndrome
Steatorrhea, Hepatomegaly, Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Bo... ORPHA:699
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inability to walk, General... ORPHA:404454
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Amish Lethal Microcephaly
Irritability, Hepatomegaly, Limb hypertonia, Cerebellar vermis hypoplasia, Organic aciduria, Agen... ORPHA:99742
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Hydronephrosis... ORPHA:1655
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Meige Disease
Pleural effusion, Cellulitis, Lymph node hypoplasia, Absence of lymph node germinal center, Atypi... ORPHA:90186
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co... ORPHA:33402
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentrati... OMIM:617591
Glutaric Acidemia I
Glutaric aciduria, Hepatomegaly, Lateral ventricle dilatation, Choreoathetosis, Reduced peroxisom... OMIM:231670
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... OMIM:616100
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Nephrolithiasis, ... ORPHA:797
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Pulmonary hemorrhage, Intra... OMIM:222700
Cholera
Irritability, Acute kidney injury, Hypokalemia, Hypocalcemia, Aspiration pneumonia, Hyponatremia,... ORPHA:173
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... ORPHA:251380
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Renal ins... ORPHA:469
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Anemia, Renal tubular dysfunction, Hypertrophic cardiomyo... ORPHA:436271
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemi... ORPHA:348
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Hypocalcemia, Elbow flexion contracture, Mucopolysacchariduria, Hyp... OMIM:618440
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia, H... OMIM:214700
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract ob... ORPHA:100085
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatos... OMIM:618278
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Athetosis, Nephrolithiasis, Primary hyperaldoster... OMIM:615474
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hypokalemia, Hyperprostaglandi... ORPHA:89938
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion, Broad long... ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-r... OMIM:619423
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Hepatomegaly, Increased urinary glycerol, Reduced tissue fructose-1,6-bisphosphatas... OMIM:229700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate... OMIM:613090
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Midline central nervous system lipomas, Mesomelic leg shortening, Tubulonodu... OMIM:603671
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Inte... OMIM:612780
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr... OMIM:602782
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Atelectasi... OMIM:620233
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Microphallus, Hyponatrem... OMIM:201810
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Nephrolithiasis, Osteoporosis, O... OMIM:219090
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Clubbing of fingers, Hypocalcemia, Cachexia, Clubbing, Hypomagnesemia OMIM:175500
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Increased serum bile acid concentration, Hypokalemia, Failure to th... OMIM:619377
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Hepatom... OMIM:614887
Kikuchi-Fujimoto Disease
Myocarditis, Anorexia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circula... ORPHA:50918
Dengue Fever
Hepatomegaly, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia, Lethargy ORPHA:99828
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, ... OMIM:601678
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Isolated Complex I Deficiency
Hepatomegaly, Proximal tubulopathy, Decreased activity of mitochondrial complex I, Increased seru... ORPHA:2609
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Recurrent lower respiratory tract infections, Sclerosing cholangitis, Ch... OMIM:308230
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Aortic valve sten... OMIM:230800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... ORPHA:436159
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar vermis hypoplasia, Abnormal mitochondrial shape, Cerebellar atrophy, Gait ataxia, Ataxia ORPHA:543470
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Anemia, Truncal ataxia, Hypertrophic cardiomyopathy, Hype... OMIM:220110
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Calf mus... ORPHA:79086
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Ataxia, Oral aver... ORPHA:134
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Osteopetrosis, Autosomal Recessive 5
Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Limb hypertonia, Pancytopenia,... OMIM:259720
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Pearson Marrow-Pancreas Syndrome
Elevated circulating hepatic transaminase concentration, Complex organic aciduria, Pancreatic fib... OMIM:557000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Decreased glomerular filtration rate, Focal segmental... OMIM:614748
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... OMIM:612852
Aicardi-Goutieres Syndrome 7
Irritability, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Recurrent lower... OMIM:615846
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Myopathy, Neutropenia... OMIM:612541
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath... ORPHA:809
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Decreased activity of NADPH oxidase... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Decreased activity of NADPH oxidase... OMIM:233710
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleuritis, Pleural effusion,... OMIM:249100
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatos... OMIM:619573
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Meckel Syndrome, Type 3
Hepatomegaly, Dandy-Walker malformation, Bile duct proliferation, Hepatic fibrosis, Multicystic k... OMIM:607361
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Atelectasis, Limb hypertonia, Splenic cyst, Inability to walk, Gliosis, Patent fora... OMIM:620371
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Gaucher Disease
Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Dysphagia, Ataxia, Pancytopeni... ORPHA:355
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Failure to thrive, Lymph node hypoplasia, Pneumonia, Absent tonsils ORPHA:276
Hydrolethalus Syndrome 1
Abnormal lung lobation, Hypospadias, Accessory spleen, Upper limb undergrowth, Postaxial hand pol... OMIM:236680
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Polycystic kid... OMIM:200980
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Lymphadenopathy, Anemia, Abnormal peritoneum morphology, ... ORPHA:83469
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Cerebellar atrophy, Dysphagia ORPHA:485421
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnorm... ORPHA:77261
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Myositis, Splenomegaly, Flexion contr... OMIM:619183
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Atelectasis, Difficulty walking, I... ORPHA:365
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231625
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Skeletal muscle hype... ORPHA:435660
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Spastic gait, Hepatomegaly, Elevated circulating hepatic transaminase c... ORPHA:415
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Pneumonia, Myopathy, Hemolytic anemia ORPHA:169090
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Atrial septal de... ORPHA:84064
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Emotional lability, Athetosis, Blepharospasm, Limb ... OMIM:608643
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Splenomegaly ORPHA:93474
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Brucellosis
Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Anorexia, Depression,... ORPHA:1304
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Horseshoe kidney, Cystic renal ... OMIM:608022
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis OMIM:615238
Fructose Intolerance, Hereditary
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proxima... OMIM:229600
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomyopathy, Mucopolysacchariduria, Increas... OMIM:252600
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Short humerus, Short distal phalanx of finger, Stage 5 ch... OMIM:218330
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Joint contracture, Irritability, Exaggerated startle response OMIM:616881
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment ORPHA:309246
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin ORPHA:90037
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr... ORPHA:3203
Goodpasture Syndrome
Anemia, Reticular pattern on pulmonary HRCT, Cylindruria, Increased blood urea nitrogen, Hemoside... OMIM:233450
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Emphysema, R... ORPHA:1572
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ... OMIM:610199
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Increased urinary potassium, Hypokalemia, Glucocortocoid-insen... ORPHA:231580
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Acute kidney injury, Decreased methylmalonyl-CoA mutase a... OMIM:277400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Leukocytosis, Splenome... OMIM:618042
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Otopalatodigital Syndrome Type 2
Flared iliac wing, Hypoplastic frontal sinuses, Fibular aplasia, Tarsal synostosis, Abnormal meta... ORPHA:90652
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Short attention span, Exaggerated startle response, Failure to thrive, Joint contra... OMIM:617864
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Athetosis, Nephrolithiasis, Hypokalemia ORPHA:369929
Fibrochondrogenesis 1
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin... OMIM:228520
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricu... ORPHA:251274
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect... OMIM:115197
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Renal salt wasting, Long penis, Elevated urinary epinephrine level, Urogenital sinu... ORPHA:90794
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia ORPHA:403
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Glycine Encephalopathy With Normal Serum Glycine
Genu recurvatum, Elbow flexion contracture, Exaggerated startle response, Hand clenching, Hip con... OMIM:617301
Shwachman-Diamond Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute myeloid leukemia, An... OMIM:260400
Reynolds Syndrome
Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hype... OMIM:613471
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Skeletal muscle hypertrophy, Calf muscle hypert... ORPHA:435651
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Recurrent respiratory inf... ORPHA:379
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasi... OMIM:274000
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:404
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Dislocated radial head, Rhizomel... OMIM:164745
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased ... OMIM:620376
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, ... OMIM:241200
Gitelman Syndrome
Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increased circulating re... OMIM:263800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, B lymphocy... OMIM:102700
Arima Syndrome
Polydipsia, Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerst... OMIM:243910
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Pes cavus, Exaggerated startle response, Absent Achilles reflex, Flexion contracture, Ankle clonus OMIM:609541
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate... OMIM:602522
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro... ORPHA:811
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Myopathy, Cholelithiasis, Normochromic ane... OMIM:615512
Distal Renal Tubular Acidosis
Rickets, Low-molecular-weight proteinuria, Reduced bone mineral density, Hypocitraturia, Decrease... ORPHA:18
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polydactyly, Exaggera... ORPHA:521426
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Asparagine Synthetase Deficiency
Irritability, Long foot, Hypoasparaginemia, Tremor, Exaggerated startle response, Failure to thri... OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Exaggerated startle response, Cognitive impairment, Postaxial polydactyly, Fa... OMIM:617527
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Exaggerated startle response, Hypernatremia, Dystonia, Ankle clonus, Hyperglycinemia OMIM:620423
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre... ORPHA:1827
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tibial bowing, Femoral ... ORPHA:140
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney... ORPHA:79259
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia, Hip dislocation OMIM:149400
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Extrapulmonary lobar sequestration, Ascite... OMIM:200995
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Pes cavus, Multiple joint contractures, Exaggerated startle response, Hyporeflexia of lower limbs ORPHA:320406
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Splenomegaly, Cardiomegaly, Hypoalbuminemia, Pedal edema ORPHA:75565
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Crimean-Congo Hemorrhagic Fever
Ascites, Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Dif... ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Flexion contracture,... OMIM:253800
Tibial Hemimelia
Absent tibia OMIM:275220
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria, Hyperuricemi... OMIM:232240
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati... OMIM:619525
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio... OMIM:263700
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Abnormal temper tantrums, Abnormal pulmonary interstitial morphology, Anemia, Cholel... ORPHA:2072
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Increased circulating c... ORPHA:90793
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Pleural effusion, Nephrotic syndrome, Hypercalcemia... ORPHA:29073
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Hepatomegaly, Anemia, Recurrent pneumonia, Splenomegaly, Lateral ventricle... OMIM:612301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response, Ankle clonus OMIM:618598
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Hypokalemia, Long penis, Decr... ORPHA:90795
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Hepatomegaly, Hematuria, Bronchitis, Mitral valve calcification... ORPHA:60025
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Hypercalciuria, Biliary cirrhosis, Recurrent bronchopulmon... OMIM:219700
Leprechaunism
Long foot, Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Decreased body... ORPHA:508
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Pleuritis, Depression, Leukocytosis, Ascites, Nephrotic syndrome, ... ORPHA:342
Dysbetalipoproteinemia
Hypertriglyceridemia, Tendon xanthomatosis, Decreased HDL cholesterol concentration, Hepatomegaly... ORPHA:412
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Charge Syndrome
Hypoplasia of the ulna, Horseshoe kidney, Hypocalcemia, Pulmonary artery atresia, Absent tibia, H... OMIM:214800
Pmm2-Cdg
Osteopenia, Abnormal subcutaneous fat tissue distribution, Reduced thyroxin-binding globulin, Ost... ORPHA:79318
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Proximal Renal Tubular Acidosis
Bicarbonaturia, Low-molecular-weight proteinuria, Global proximal tubulopathy, Reduced bone miner... ORPHA:47159
Sarcoidosis, Susceptibility To, 1
Anorexia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, ... OMIM:181000
Rabson-Mendenhall Syndrome
Polydactyly, Hypokalemia, Long penis, Reduced subcutaneous adipose tissue, Increased C-peptide le... ORPHA:769
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Agammaglobulinemia, X-Linked
Recurrent lower respiratory tract infections, Recurrent pneumonia, Recurrent sinusitis, Lymph nod... OMIM:300755
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Clinodactyly of the 5th finger, Exaggerated startle response OMIM:618056
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Helix Syndrome
Hypermagnesemia, Polyuria, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency OMIM:617671
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, F... ORPHA:2753
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Leptospirosis
Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Pleural effusion, Cellula... ORPHA:509
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatr... ORPHA:90038
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response, Lacticaciduria OMIM:620451
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umb... OMIM:304120
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Elevated serum 11-deoxycortisol, Hypokalemia, Long penis OMIM:202010
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Exaggerated startle response OMIM:608800
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Gitelman Syndrome
Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Hypocalcemia, Renal p... ORPHA:358
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ... ORPHA:353281
Vipoma
Hepatomegaly, Hypokalemia, Hypercalcemia, Weight loss, Subcutaneous lipoma, Increased circulating... ORPHA:97282
Scorpion Envenomation
Pulmonary edema, Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia,... ORPHA:466677
Kinsship Syndrome
Osteopenia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Failure to thrive, Micrognat... OMIM:619297
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Short humerus, Short femur, Tapered finger OMIM:618367
Nelson Syndrome
Hypokalemia, Secondary hypercortisolism, Quadriceps muscle atrophy, Increased urinary cortisol le... ORPHA:199244
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia, Recurrent lower respiratory tract infections, Hypokalemia OMIM:618426
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Vesicoureteral reflux, Nephrolithiasis, Aspiration pneumonia, Osteoporosis, Exaggerat... ORPHA:438213
Johanson-Blizzard Syndrome
Ascites, Urethrovaginal fistula, Splenomegaly, Intrahepatic cholestasis, Hypospadias, Hypocalcemi... OMIM:243800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Urinary incontinence, Clinodactyly of the 5th finger, Hypospadias, Broad toe, Pelvi... OMIM:619522
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hypokalemia, Tremor, Osteoporosis, Weight loss ORPHA:91347
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia, Increased circulating cortisol level ORPHA:786
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati... ORPHA:64
Vascular Ehlers-Danlos Syndrome
Pneumothorax, Pulmonary artery aneurysm, Hypospadias, Inguinal hernia, Hypokalemia, Congenital hi... ORPHA:286
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Hepatomegaly, Tra... ORPHA:99125
Retinitis Pigmentosa
Obesity ORPHA:791
Retinitis Pigmentosa 73
OMIM:616544

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Uterus - MPATH pathological process term vacuolation Hgsnatem4(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term vacuolation Hgsnatem4(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term vacuolation Hgsnatem4(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term hydropic degeneration Hgsnatem4(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hgsnat.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. Disease models & mechanisms (August 2016) Hgsnattm1a(EUCOMM)Wtsi PMC5047683

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hgsnattm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hgsnatem4(IMPC)Tcp Indel Mice, Tissue
Hgsnattm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hgsnatem7(IMPC)Tcp Intra-exon deletion Mice
Hgsnattm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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