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Gene: 1500009L16Rik MGI:1917034

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Gene Summary

Name:
RIKEN cDNA 1500009L16 gene
Synonyms:
N/A

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 circulating creatinine level 1500009L16Rikem1(IMPC)Mbp HOM   Early adult 1.15×10-05
decreased bone mineral density 1500009L16Rikem1(IMPC)Mbp HOM Early adult 9.06×10-05
increased circulating serum albumin level 1500009L16Rikem1(IMPC)Mbp HOM   Early adult 1.46×10-06
increased circulating aspartate transaminase level 1500009L16Rikem1(IMPC)Mbp HOM   Early adult 2.04×10-06
increased circulating calcium level 1500009L16Rikem1(IMPC)Mbp HOM Early adult 4.23×10-05

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Viewing: all phenotypes

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 Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by 1500009L16Rik 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to 1500009L16Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration OMIM:615883
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con... OMIM:179800
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99879
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... OMIM:620366
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Renal Tubular Acidosis, Proximal
Rickets, Elevated circulating creatinine concentration, Osteomalacia OMIM:179830
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Hypercalcemia OMIM:614732
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia, Osteopenia OMIM:619073
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Diarrhea 13
Hypoalbuminemia OMIM:620357
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, Hydroxyprolinuria, Sclero... OMIM:602080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp... OMIM:617994
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hypophosphatasia
Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Infantile Myofibromatosis
Bone cyst, Limitation of joint mobility, Hypercalcemia, Osteolysis ORPHA:2591
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Fanconi Renotubular Syndrome 3
Rickets, Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:617056
Hypophosphatasia, Infantile
Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial ossification, Hyp... OMIM:241500
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort... ORPHA:93324
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Saccharopinuria
Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnor... ORPHA:3124
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Hypophosphatemia, Osteomalacia ORPHA:89937
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypercalcemia, Hypophosphatemia, Knee flexion contracture, Pathologi... OMIM:156400
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Multiple Myeloma
Osteopenia, Hypercalcemia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine... ORPHA:29073
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:251004
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Hypercalcemia, Hypophosphatemia, Aminoaciduria OMIM:239200
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia ORPHA:405
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Hypophosp... ORPHA:93160
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Abnormal bone structure, Cortical irregularity, Thin bony cortex, Hypercal... ORPHA:249
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,... OMIM:600081
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperph... ORPHA:36913
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Diaphyseal sclerosis, Hypocalcemia, Increased bone mineral density, Hypoca... ORPHA:94089
Albers-Schönberg Osteopetrosis
Hypocalcemia, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibu... ORPHA:53
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Oculoskeletodental Syndrome
Hypocalcemia, Elbow flexion contracture, Hypercalcemia OMIM:618440
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility OMIM:619013
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Alg1-Cdg
Hypoalbuminemia, Limitation of joint mobility ORPHA:79327
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc... OMIM:264700
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis OMIM:244460
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly OMIM:608104
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Hypocalcemia, Increased bone mineral den... OMIM:259700
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Immunodeficiency 27A
Hypoalbuminemia, Salmonella osteomyelitis OMIM:209950
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Osteoporosis, Hypocalcemic tetany OMIM:612462
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre... OMIM:601678
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hyponatremia, Hyp... ORPHA:247353
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia ORPHA:95409
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Addison Disease
Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Increased circulating renin level... ORPHA:85138
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc... ORPHA:289157
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hypocalcemia, Increased bone mineral density, Thickened cortex of lon... OMIM:127000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Osteopenia, Hypercalcemia, Joint hypermobility, Craniosynostosis ORPHA:369837
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Pheochromocytoma
Hypercalcemia OMIM:171300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Joint hypermobility, Hypoalb... OMIM:617093
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Juv... ORPHA:158061
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Pathologic fracture, Fibrous dysplasia of the bones, Increased su... ORPHA:352540
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Arthritis, Elevated circulating creatine kinase concentration, Septic arthritis, Hy... ORPHA:36234
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Leishmaniasis
Hypoalbuminemia ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost... OMIM:618476
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elbow flexion contracture, Elevated circulating long chain fatty acid concentration, Elevated cir... OMIM:608836
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia, Osteoporosis ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Gracile Bone Dysplasia
Hypocalcemia, Decreased skull ossification OMIM:602361
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Distal symphalangism, Elevated circulating creatinine concentration OMIM:154230
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia, Osteoporosis ORPHA:143
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
X-Linked Agammaglobulinemia
Hypocalcemia, Arthritis, Osteomyelitis ORPHA:47
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Flexion contracture ORPHA:367
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia ORPHA:428
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Aminoaciduria OMIM:617913
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:174000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Timothy Syndrome
Hypocalcemia OMIM:601005
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Osteoporosis, Subcutaneous ossification, Hypocalcemic tetany OMIM:103580
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Flexion ... ORPHA:89842
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Ectopic ossifica... ORPHA:79444
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hypocalcemia, Hyperbilirubinemia, Increased bone mineral den... OMIM:259720
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Genera... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Vipoma
Hypercalcemia, Hypokalemia ORPHA:97282
Hypomagnesemia 3, Renal
Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ... OMIM:248250
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased... ORPHA:85450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Rickets, Osteoporosis OMIM:212750
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Osteoporosis, Unconjugated hyperbil... ORPHA:232
Ppoma
Hypercalcemia ORPHA:97278
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Reduced bone mineral density, Hypocalcemia, Increased bone min... ORPHA:79443
Multiple Endocrine Neoplasia Type 2
Joint hypermobility, Hypercalcemia ORPHA:653
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Unconjugated hyperbilirubinemia,... OMIM:613658
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hypoalbuminemia, Hypocholesterolemia, Flexion contracture OMIM:212065
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abn... ORPHA:14
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Osteomalacia... OMIM:277900
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Somatostatinoma
Hypercalcemia ORPHA:97283
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Flexion contracture OMIM:617303
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Hypercalcemia, Osteolysis, Increased susceptibility to fractures ORPHA:652
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Osteoporosis OMIM:619487
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Grfoma
Hypercalcemia ORPHA:97261
Alg12-Cdg
Abnormal bone ossification, Camptodactyly, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Rheumatoid arthriti... ORPHA:49041
Williams Syndrome
Abnormal circulating lipid concentration, Osteopenia, Increased bone mineral density, Elevated ci... ORPHA:904
Histidinemia
Hyperhistidinemia, Elevated urinary N-tau-ribosylhistidine level, Histidinuria OMIM:235800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Hypoalbuminemia, Camptodactyly, Joint contracture of the hand OMIM:235510
Papillorenal Syndrome
Joint hypermobility, Elevated circulating creatinine concentration OMIM:120330
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly OMIM:617729
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentration, Hyp... OMIM:222470
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hypocalcemia, Hypophosphatemia, Craniosynostosis, Re... ORPHA:667
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickenin... ORPHA:93325
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Osteoarthritis, Abnormal circulati... ORPHA:2298
Marburg Hemorrhagic Fever
Hypokalemia, Arthritis, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hype... ORPHA:99826
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Camptodactyly, Joint contracture of the hand OMIM:251300
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Cartilage-Hair Hypoplasia
Limited elbow extension, Abnormal bone ossification, Hypocalcemia, Abnormally ossified vertebrae,... ORPHA:175
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Williams-Beuren Syndrome
Osteopenia, Osteoporosis, Hypercalcemia, Flexion contracture, Radioulnar synostosis, Joint hyperm... OMIM:194050
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Craniosynostosis ORPHA:79396
Sarcoidosis
Bone cyst, Hypercalcemia ORPHA:797
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Hypoalbuminemia, Flexion contracture ORPHA:505248
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:137920
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Recurrent fractures, Osteopetrosis, Elevated circulating creatine kinase concentration ORPHA:2785
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Primary Sclerosing Cholangitis
Osteopenia, Hypoalbuminemia, Osteoporosis ORPHA:171
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Arthritis, Hypernatremia, Osteomalacia, Hy... OMIM:619381
Sotos Syndrome
Ankle flexion contracture, Bilateral camptodactyly, Hip contracture, Hypercalcemia, Flexion contr... ORPHA:821
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Hyperextensibility of the finger joints ORPHA:163979
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cranioectodermal Dysplasia 1
Hypocalcemia, Joint hypermobility, Sagittal craniosynostosis, Osteoporosis OMIM:218330
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia, Septic arthritis ORPHA:544482
Hennekam Syndrome
Hypocalcemia, Craniosynostosis, Camptodactyly of finger ORPHA:2136
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia ORPHA:699
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Gout ORPHA:358
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Kawasaki Disease
Hypoalbuminemia, Arthritis, Elevated circulating C-reactive protein concentration ORPHA:2331
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Ep... OMIM:270400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Joint hypermobility, Hypoalbuminem... OMIM:619534
22Q11.2 Deletion Syndrome
Hypocalcemia, Joint hypermobility, Arthritis, Multiple suture craniosynostosis ORPHA:567
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro... ORPHA:91500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hyperextensibility of the finger joints, Elbow flexion contracture, Hip contracture... OMIM:619503
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Joint hypermobility OMIM:620330
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Digeorge Syndrome
Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Hypocalcemia, Joint hypermobility, Conjugated hyperbilirubinemia, Increased VLDL cholesterol conc... OMIM:243800
Charge Syndrome
Hypocalcemia OMIM:214800
Pmm2-Cdg
Osteopenia, Reduced thyroxin-binding globulin, Osteoporosis, Joint hypermobility, Hypoalbuminemia... ORPHA:79318

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.

There is no histopathology data for 1500009L16Rik

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 1500009L16Rik.

No publications found that use IMPC mice or data for 1500009L16Rik.

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MGI Allele Allele Type Produced
1500009L16Rikem1(IMPC)Mbp Exon Deletion Mice, Tissue

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