Gene Summary

Name:
aquaporin 1
Synonyms:
CHIP28

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 HDL cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 6.05×10-05
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 2.02×10-32
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.03×10-05
decreased bone mineral content Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 4.62×10-06
decreased total body fat amount Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.47×10-07
increased circulating cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.18×10-05
decreased locomotor activity Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.55×10-15
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 7.94×10-12
increased circulating amylase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.06×10-08
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.53×10-11
increased circulating serum albumin level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 4.35×10-05
impaired glucose tolerance Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 9.39×10-05
decreased locomotor activity Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.39×10-08
increased lean body mass Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.42×10-08
increased neutrophil cell number Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.91×10-05
increased circulating total protein level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.11×10-07
increased neutrophil cell number Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.43×10-05
decreased grip strength Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-09
increased circulating HDL cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 4.96×10-06
decreased bone mineral density Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 7.15×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 50% (1 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 100% (2 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 100% (3 of 3)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 3)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 3)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Dorso Ventral Orientation

12 Images

Echo

M-Mode Images

48 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Aqp1 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 Aqp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Renal Glucosuria
Renal tubular dysfunction, Dehydration, Recurrent urinary tract infections, Nephropathy, Glycosur... ORPHA:69076
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... OMIM:610947
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy ORPHA:28
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive, Methylmalonic aciduria OMIM:614265
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Coma, Hyperammonemia, Hyperlysinuria, Lethargy, Growth delay, Dibasicaminoaciduria OMIM:238750
Central Diabetes Insipidus
Failure to thrive, Dehydration, Nocturia, Hyponatremia, Excessive daytime somnolence, Weight loss... ORPHA:178029
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Dehydration, Hypercalciuria, Infantile hypercalcemi... OMIM:143880
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Dehydration, Hypercalciuria, Distal renal tubular acidosis, Growt... OMIM:602722
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Neutropenia, Abnormal T cell subset distrib... ORPHA:158048
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Diabetes Mellitus, Transient Neonatal, 1
Dehydration, Intrauterine growth retardation, Severe failure to thrive OMIM:601410
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... ORPHA:93101
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Growth delay, Uraciluria, Lethargy OMIM:274270
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Growth delay, Hy... OMIM:610600
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased p... ORPHA:79159
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Growth delay, Hy... OMIM:203400
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentratio... OMIM:251120
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Anxiety, Increased circulatin... ORPHA:90041
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Transient Neonatal Diabetes Mellitus
Failure to thrive, Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality... ORPHA:99886
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration, Methylmalonic aciduria, Dicarboxylic aciduria, Methylmalonic acid... ORPHA:289504
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Renal sodium was... ORPHA:556030
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Glucose-Galactose Malabsorption
Nephrolithiasis, Failure to thrive, Dehydration, Hematuria, Hypernatremia, Renal insufficiency, H... ORPHA:35710
Glutaric Acidemia Type 3
Failure to thrive, Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of ci... ORPHA:35706
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Ethylmalonic aciduria, Lethargy OMIM:201470
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia ORPHA:181393
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... ORPHA:93110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy ORPHA:79312
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... OMIM:208920
Isovaleric Acidemia
Coma, Dehydration, Hyperglycinuria, Lethargy OMIM:243500
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Coma, Hyperammonemia, Methylmalonic aciduria, Dehydration, Tubulointerstitial ... OMIM:251000
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Ketonuria, Hyperlipidemia, Short stature, Glycosuria, Lethargy ORPHA:2089
Glycerol Kinase Deficiency
Coma, Small for gestational age, Short stature, Increased urinary glycerol, Hypertriglyceridemia,... OMIM:307030
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy ORPHA:79283
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Craniosynostosis ORPHA:88643
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Coma, Hyperammonemia, Confusion, Increased level of L-glutamic acid in blood, ... OMIM:237310
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy ORPHA:254857
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Insul... OMIM:612526
Cystinosis
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short... ORPHA:213
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Lethargy OMIM:236270
Glycine Encephalopathy
Hyperglycinemia, Hyperglycinuria, Lethargy OMIM:605899
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Osteoporosis, Hyperostosis frontalis interna, Memory impairment, Suicidal i... ORPHA:77296
Primary Fanconi Renotubular Syndrome
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... ORPHA:3337
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Dehydration, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:264350
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Increased LDL cholesterol ... OMIM:267700
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Dehydration, Edema OMIM:616069
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Myoglobinuria, Neonatal death OMIM:602199
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Dehydration, Hypergly... OMIM:251110
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy ORPHA:622
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Lethargy, Small for gestational age OMIM:617065
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Short stature, Distal renal tubular acidosis, Isothenuria, Nephro... OMIM:611590
Glucose/Galactose Malabsorption
Hypertonic dehydration, Failure to thrive, Glycosuria OMIM:606824
Multiple Myeloma
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hyperc... ORPHA:29073
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy ORPHA:27
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Aminoaciduria, Elevated circulating creatine kinase concentration, Hyperglycinemi... OMIM:619386
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Propionic Acidemia
Failure to thrive, Hyperglycinuria, Coma, Hyperammonemia, Short stature, Dehydration, Hyperglycin... OMIM:606054
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Ede... ORPHA:103910
Juvenile Nephropathic Cystinosis
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... ORPHA:411634
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Dehydration, Hypergly... OMIM:251100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Irritability, Hypoproteinemia, Decreased HDL cholesterol co... ORPHA:247585
Hyperchlorhidrosis, Isolated
Failure to thrive, Hypernatremic dehydration, Hyperkalemia, Hyponatremia OMIM:143860
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy OMIM:615026
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... OMIM:616828
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Nephrogenic Diabetes Insipidus
Failure to thrive, Short stature, Hyposthenuria, Hydroureter, Hypernatremic dehydration, Hypernat... ORPHA:223
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational age, Unilatera... ORPHA:2260
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Lethargy ORPHA:26
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Neonatal death, Edema, Small for gestational age OMIM:610498
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Short stature, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Short stature, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis OMIM:304800
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Bartter Syndrome Type 4
Hyperprostaglandinuria, Impaired renal concentrating ability, Chronic kidney disease, Hypokalemia... ORPHA:89938
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Growth delay, Hypokalemia, Aminoaciduria, Mild postnatal grow... ORPHA:47159
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Dysdia... OMIM:277460
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss, Lethargy ORPHA:30925
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... OMIM:209950
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary ... OMIM:208085
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hy... OMIM:237300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Coma, Hyperammonemia, Renal insufficiency, Growth delay, Lethargy ORPHA:289916
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hyperammonemia, Elevated circulating creatine kinase concentration, 3-Methylglutac... OMIM:618120
Glut1 Deficiency Syndrome 1
Confusion, Paroxysmal lethargy, Lethargy OMIM:606777
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Ketonuria, Acute hyperammonemia, Elevated urinary 3-methylcrotonylglycine leve... OMIM:210200
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Holocarboxylase Synthetase Deficiency
Coma, Hyperammonemia, Organic aciduria, Growth delay, Weight loss, Lethargy ORPHA:79242
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Hemophagocytosis, Splenome... OMIM:603553
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy OMIM:618228
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased circulating... OMIM:601678
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Hyperglycinuria, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Cerebral e... OMIM:201450
Bartter Syndrome, Type 3
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Dehydration, Increased circula... OMIM:607364
Familial Hypoaldosteronism
Failure to thrive, Proximal renal tubular acidosis, Increased circulating renin level, Hyponatrem... ORPHA:427
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration, Intrauterine growth retardation OMIM:618958
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Dehydration, Polyhydramnios, Hyponatremia, Growth delay, Hypochlo... OMIM:214700
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hyperammonemia, Hyperisoleu... ORPHA:2394
Methylcobalamin Deficiency Type Cble
Failure to thrive, Loss of consciousness, Hypomethioninemia, Glomerulopathy, Hyperhomocystinemia,... ORPHA:2169
Distal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Growth delay, Hypokalemia, Aminoaciduria, Decreased glomerula... ORPHA:18
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Temple Syndrome
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Adrenal Hypoplasia, Congenital
Failure to thrive, Dehydration, Delayed puberty, Hyponatremia, Renal salt wasting OMIM:300200
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Growth delay, Hypophosphatemia, Hypokalemia, Aminoa... ORPHA:411629
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Dehydration, Neonatal death, Tubulointerstitia... OMIM:263200
Maple Syrup Urine Disease
Coma, Elevated plasma branched chain amino acids, Increased level of hippuric acid in urine, Cere... OMIM:248600
Hyperinsulinism Due To Hnf1A Deficiency
Loss of consciousness, Small for gestational age, Increased C-peptide level, Large for gestationa... ORPHA:324575
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Hypospadias, Sudden cardiac death, Noncompaction cardiomyopathy,... OMIM:610198
Galactokinase Deficiency
Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia,... ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... ORPHA:276556
Wolcott-Rallison Syndrome
Chronic kidney disease, Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Short stature,... ORPHA:1667
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Dehydration, Abnormal blood ion concen... ORPHA:173
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Lethargy OMIM:605711
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Failure to thrive, Polyuria, Proximal tubulopathy OMIM:560000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Acute hyperammonemia, Coma, Hyperammonemia, Hyperglutaminemia, Delirium, Confu... ORPHA:927
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss ORPHA:33355
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Hyperkalemia OMIM:177735
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased pla... ORPHA:42
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Increased circulating renin level, Failure to thrive in infancy, Hyponatremia, Propo... ORPHA:171876
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Meth... OMIM:614857
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Dengue Fever
Lethargy, Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Coma, Abnormality of the upper urinary t... ORPHA:99885
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... ORPHA:276575
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hyperalaninemia, Lethargy, Small for gestational age OMIM:312170
Citrullinemia, Classic
Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Hypoargin... OMIM:215700
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematu... OMIM:277400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Coma, Abnormal circulating fatty-acid concentration, Glycosuria, Renal ... ORPHA:263455
Beta-Ketothiolase Deficiency
Ketonuria, Coma, Hyperammonemia, Dehydration, Edema, Hyperuricemia, Excessive daytime somnolence,... ORPHA:134
Carnitine Deficiency, Systemic Primary
Failure to thrive, Coma, Hyperammonemia, Confusion, Decreased plasma carnitine, Excessive daytime... OMIM:212140
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Drowsiness, Coma, Lethargy ORPHA:276608
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Renal tubular acidosis, Transient hyperlipidemia, Lethargy, Loss of consciousness ORPHA:156
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Ketonuria, Acute hyperammonemia, Hyperglycinuria, Coma, Hyperammonemia, Hyperl... OMIM:210210
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failure to thrive, Increased urinary potassi... OMIM:241200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Large for gestational age, Hypoglycemic coma, Drowsiness, Lethargy, Lo... ORPHA:276580
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... ORPHA:507
Citrullinemia Type I
Failure to thrive, Coma, Hyperammonemia, Elevated plasma citrulline, Lethargy, Loss of consciousness ORPHA:247525
Congenital Generalized Lipodystrophy
Bone cyst, Hyperinsulinemia, Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:528
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... ORPHA:2070
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Mental deterioration, Cognitive impairment, Abnormality of circul... ORPHA:3124
Carnitine Palmitoyltransferase I Deficiency
Coma, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concentration,... OMIM:255120
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability ORPHA:263501
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Dehydration, Oliguria, Abnormal bloo... ORPHA:31824
Galactosemia
Failure to thrive, Increased level of galactitol in plasma, Hypergalactosemia, Renal insufficienc... ORPHA:352
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... OMIM:609015
Cystinosis, Nephropathic
Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage 5 chronic ki... OMIM:219800
Multiple Carboxylase Deficiency
Organic aciduria, Coma, Lethargy, Hyperammonemia ORPHA:148
Lamellar Ichthyosis
Dehydration, Renal insufficiency, Short stature ORPHA:313
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... ORPHA:167
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Chronic hemolytic anemia, Elevat... OMIM:210250
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Ataxia ORPHA:79320
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasm... OMIM:311250
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid ... ORPHA:2457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased ... ORPHA:71212
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Joint hypermobility OMIM:619013
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Ketonuria, Hyperammonemia, Hypomethioninemia, Methylmalonic aciduria, Elevated... ORPHA:79282
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Microvillus Inclusion Disease
Dehydration, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hyperprolinemia, Failure to thrive in infancy, Lethargy OMIM:619064
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Netherton Syndrome
Aminoaciduria, Short stature, Dehydration, Ectopic kidney, Hydronephrosis ORPHA:634
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hype... ORPHA:90065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:26793
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Dehydration, Proteinuria, Grade II vesicoureteral reflux, Weight ... OMIM:619377
Argininosuccinic Aciduria
Failure to thrive, Oroticaciduria, Coma, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxica... OMIM:207900
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy ORPHA:71277
Pyruvate Carboxylase Deficiency
Failure to thrive, Growth delay, Hyperlysinemia, Lacticaciduria, Coma, Hyperammonemia, Increased ... ORPHA:3008
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... ORPHA:79284
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Lethargy, Increased serum iron OMIM:602390
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Hypoproteinemia OMIM:608093
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Failure to thrive, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Cystathioninemia,... OMIM:277380
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Coma, 3-Methylglutaric aciduria, Hyperammonemia, Dehydration, Hypoglycemic coma, Hyper... ORPHA:20
Secondary Short Bowel Syndrome
Failure to thrive, Dehydration, Low plasma citrulline, Abnormal blood ion concentration, Growth d... ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Lethargy OMIM:618226
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Periostosis, Hyperostosis OMIM:614441
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Ketonuria, Lethargy, Hyperammonemia OMIM:615751
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Facial edema, Lethargy ORPHA:95717
Ménétrier Disease
Hypochromic microcytic anemia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Dehydration, Small for gestational age OMIM:214150
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Coma, Dehydration, Elevated circulating creatine kinase concentrati... ORPHA:94093
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Hyperbilirubinemia, 3-Methylglutaric aciduria, Small for gestational age, Dehy... OMIM:557000
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Cirrhosis, Familial
Lethargy, Ascites, Increased level of propylene glycol in blood, Increased level of L-fucose in u... OMIM:215600
Severe Canavan Disease
Lethargy ORPHA:314911
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia OMIM:226300
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Lethargy OMIM:614922
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperornithinemia, Coma, Hyperammonemia, Confusion, Lethargy OMIM:238970
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Renal dysplasia, Abnormal renal corticomedullary differentiation, Elev... OMIM:616733
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Coma, Hemoglobinuria, Dehydration, Elevated circulating creatinine concentration, Un... ORPHA:90038
Smith-Magenis Syndrome
Self-mutilation, Hypertriglyceridemia, Head-banging, Hypercholesterolemia OMIM:182290
Encephalopathy, Recurrent, Of Childhood
Lethargy OMIM:130950
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aci... OMIM:277410
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Decreased... OMIM:278000
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy OMIM:274400
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia,... OMIM:608104
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:79240
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Coma, Hyperuric... OMIM:229600
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Fructose-1,6-Bisphosphatase Deficiency
Coma, Increased urinary glycerol, Lethargy OMIM:229700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasma carnitine, D... OMIM:201475
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Cognitive impairment, Leukopenia, Hypoalbuminemia, Anemia, Thro... ORPHA:64743
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Arthritis, Increased serum iron, Neutr... OMIM:604250
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia, Diabetes mellitus ORPHA:2315
Holocarboxylase Synthetase Deficiency
Organic aciduria, Coma, Lethargy, Hyperammonemia OMIM:253270
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hypospadias, Dehydration, Increased circulating renin level, Penoscrotal hypos... ORPHA:90791
3-Methylglutaconic Aciduria, Type Viib
Dehydration, Polyhydramnios, Rhizomelia, 3-Methylglutaconic aciduria, Growth delay, Intrauterine ... OMIM:616271
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Failure to thrive, Coma, Abnormal circulating c... OMIM:615838
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... OMIM:608836
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Drowsiness, Renal insufficiency, Reduced c... ORPHA:33475
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Coma, Hyperammonemia, Elevated creatine kinase ... ORPHA:159
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Growth delay, Lethargy OMIM:222748
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Enteric Anendocrinosis
Dehydration ORPHA:83620
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Hereditary Fructose Intolerance
Chronic kidney disease, Hypophosphatemia, Coma, Renal insufficiency, Hyperuricemia, Hypermagnesem... ORPHA:469
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Short stature ORPHA:49827
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
Transcobalamin Ii Deficiency
Failure to thrive, Methylmalonic aciduria, Lethargy OMIM:275350
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... ORPHA:264580
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Osteopenia, Acroosteolysis of distal phalanges (feet), Progress... OMIM:248370
Familial Cold Urticaria
Dehydration ORPHA:47045
Necrotizing Enterocolitis
Small for gestational age, Edema, Hyponatremia, Ascites, Lethargy ORPHA:391673
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Osteopenia, Intraalv... ORPHA:470
Idiopathic Intracranial Hypertension
Obesity, Lethargy ORPHA:238624
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy OMIM:614299
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, ... OMIM:212138
Abetalipoproteinemia
Broad-based gait, Failure to thrive, Abnormal circulating apolipoprotein concentration, Ataxia, H... ORPHA:14
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Dehydration, Hematuria, Renal insufficiency, Hyperoxaluria, Neph... OMIM:259900
Dopa-Responsive Dystonia
Lethargy, Urinary incontinence ORPHA:255
Scrub Typhus
Lethargy, Renal insufficiency, Reduced consciousness/confusion ORPHA:83317
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Dehydration, Abnormal urine potassium concentration, Hypertriglyceri... ORPHA:275761
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Pearson Syndrome
Growth delay, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Lacticaciduria, Small ... ORPHA:699
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Failure to thrive, Midshaft hypospadias, Dehydration, Abnormal urine po... ORPHA:168558
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... ORPHA:75249
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Osteomyelitis, Cellulitis, Elevated circulat... ORPHA:36234
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... OMIM:242150
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Failure to thrive, Midshaft hypospadias, Dehydration, Abnormal urine po... ORPHA:289548
Insulinoma
Fluctuations in consciousness, Coma, Reduced consciousness/confusion, Increased body weight, Leth... ORPHA:97279
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Cognitive impairment, Gout, Hyperuricemia, Neutropenia, Anemia OMIM:617056
Shigellosis
Urethritis, Dehydration, Abnormal blood ion concentration, Acute kidney injury, Hyponatremia, Fai... ORPHA:810
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Central Neurocytoma
Coma, Lethargy ORPHA:73256
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia OMIM:600649
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Postnat... ORPHA:556037
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Lethargy, Ascites, Pleural effusion OMIM:617397
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Facial edema, Lethargy, Abnormal circulating thyroglobulin level ORPHA:95716
Leukoencephalopathy With Vanishing White Matter
Lethargy OMIM:603896
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Lethargy OMIM:233910
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Flexion contracture, Steatorrhea, Dysmetria, Osteopenia, Thrombocytosi... OMIM:212065
Smith-Magenis Syndrome
Self-injurious behavior, Anxiety, Gait disturbance, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Dehydration, Nocturia, Elevated circula... ORPHA:230
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Flexion contracture, Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, A... OMIM:617303
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Failure to thrive, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstruction,... ORPHA:79404
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophilia, ... OMIM:612852
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Classic Galactosemia
Delayed puberty, Ascites, Lethargy ORPHA:79239
Megalocornea-Mental Retardation Syndrome
Osteopenia, Ataxia, Hypercholesterolemia OMIM:249310
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Lipodystrophy,... OMIM:617099
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Overweight, Lethargy, Abnormal circulating thyroglobulin level ORPHA:99832
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture ORPHA:367
Aicardi-Goutieres Syndrome 9
Failure to thrive, Self-mutilation, Hepatosplenomegaly, Osteoporosis, Hemolytic anemia, Weight lo... OMIM:619487
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... ORPHA:370
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... ORPHA:89842
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Ataxia, Hypercholesterolemia ORPHA:2479
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Hypercholesterolemia ORPHA:69663
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of truncal su... OMIM:151660
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Failure to thrive, Decreased serum zinc, Short stature OMIM:201100
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Pyruvate Dehydrogenase Deficiency
Growth delay, Intrauterine growth retardation, Lethargy ORPHA:765
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Joint swelling, Abnormality of iron homeostasis, We... ORPHA:465508
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Steatorrhea OMIM:602579
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Cystathioninemia, Leth... ORPHA:395
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Hematuria, Proteinuria, Nephrolithiasis, Joint swelling, Dehydration, Hyponatremia... ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cognitive impairment, Osteopenia, Osteopor... ORPHA:79259
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Pleural empyema, Confusion, Pleural effusi... ORPHA:36238
Susac Syndrome
Confusion, Lethargy ORPHA:838
Myxedema
Lethargy OMIM:255900
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Hyper... ORPHA:90674
Harlequin Ichthyosis
Dehydration ORPHA:457
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemi... OMIM:615558
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Oroticaciduria, Hyperornithinemia, Coma, Hyperammonemia, Abnormal circulating ... ORPHA:415
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Isolated Complex I Deficiency
Failure to thrive, Increased serum pyruvate, Proximal tubulopathy, Intrauterine growth retardatio... ORPHA:2609
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome