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
hypoactivity Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.39×10-08
impaired glucose tolerance Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 9.28×10-05
increased circulating HDL cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 5.18×10-06
decreased bone mineral density Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 7.15×10-06
decreased total body fat amount Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.47×10-07
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.55×10-32
increased lean body mass Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.42×10-08
increased circulating total protein level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.11×10-07
increased circulating amylase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 8.55×10-08
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.45×10-11
decreased bone mineral content Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 4.62×10-06
increased neutrophil cell number Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.43×10-05
decreased grip strength Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 7.60×10-10
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 9.72×10-06
increased neutrophil cell number Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.91×10-05
hypoactivity Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 5.11×10-15
increased circulating HDL cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 6.05×10-05
increased circulating serum albumin level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 3.96×10-05
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.81×10-12
increased circulating cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.23×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Echo

M-Mode Images

48 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Moderate postnatal growth retardation, Renal tubular dysfunction, Glycosuria, Recurrent urinary t... ORPHA:69076
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Hypercholesterolem... OMIM:610947
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hyperammonemia, Renal insufficiency, Coma, Dehydration, Lethargy ORPHA:28
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration, Methylmalonic aciduria OMIM:614265
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hyperlysinuria With Hyperammonemia
Growth delay, Dibasicaminoaciduria, Hyperammonemia, Coma, Hyperlysinuria, Hyperlysinemia, Lethargy OMIM:238750
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Weight loss, Excessive daytime somnolence, Dehydration, Nocturia... ORPHA:178029
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Hypokalemia, Nephrocalcinosis, Failure to thrive, Hypercalciuria, Dehydration, Dist... OMIM:602722
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Failure to thrive, Hyperactivity, Uraciluria, Lethargy OMIM:274270
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Dehydration OMIM:601410
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration, Dehydration OMIM:143860
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Dehydration... ORPHA:93101
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Dehydration, Ketonuria OMIM:251120
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Dystonia, Intrauterine growth retardation, Failure to thrive, Elevated cir... ORPHA:26792
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Renal salt wasting, Increased circul... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Renal salt wasting, Increased circul... OMIM:203400
Combined Malonic And Methylmalonic Acidemia
Dystonia, Dicarboxylic acidemia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thriv... ORPHA:289504
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dehydration, Dicarboxylic aciduria, Elevated circulating acylcarnitin... ORPHA:79159
Gaisböck Syndrome
Hyperproteinemia, Increased red blood cell count, Hyperuricemia, Hypercholesterolemia, Diabetes m... ORPHA:90041
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Failure to thrive, ... OMIM:251000
Transient Neonatal Diabetes Mellitus
Intrauterine growth retardation, Small for gestational age, Abnormality of the urinary system, Fa... ORPHA:99886
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Gait disturbance, Lethargy ORPHA:79283
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Dehydration, Failure to thrive, Hyperammonemia, Coma, Renal insufficiency, Lethargy ORPHA:79312
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Short stature, Lethargy OMIM:618573
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Postnatal growth retardation... ORPHA:556030
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Dehydration, Failure to thrive, Hematuria, Weight loss, Nephrolithi... ORPHA:35710
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Glutaric Acidemia Type 3
Ketonuria, Failure to thrive, Glutaric aciduria, Elevated circulating glutaric acid concentration... ORPHA:35706
Glycine Encephalopathy
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy OMIM:605899
Cystinosis
Gait disturbance, Renal tubular dysfunction, Hypokalemia, Dehydration, Failure to thrive, Short s... ORPHA:213
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ethylmalonic aciduria, Failure to thrive, Lethargy OMIM:201470
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Dysmetria, Glucose intolerance, Impaired glucose tolerance, Hypercholesterole... OMIM:606721
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperhomocystinemia, Gait disturbance, Hypomethioninemia, Failure to thrive, Homocystinuria, Leth... OMIM:236270
Chronic Hiccup
Weight loss, Dehydration ORPHA:396
Isovaleric Acidemia
Coma, Dehydration, Hyperglycinuria, Lethargy OMIM:243500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus ORPHA:181393
Glycerol Kinase Deficiency
Growth delay, Small for gestational age, Short stature, Coma, Increased urinary glycerol, Loss of... OMIM:307030
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Cognitive impairment, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbum... OMIM:208920
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Hyperlipidemia, Short stature, Failure to thrive, Glycosuria, Lethargy ORPHA:2089
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Ataxia, Lethargy ORPHA:622
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Increased level of L-glutamic acid in blood, Hyperammonemia, Coma, Confusion, ... OMIM:237310
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia,... OMIM:612526
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy ORPHA:254857
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Proximal renal tubular acidosis, Hyperuricosuria, Chronic kidney disease, Hyper... ORPHA:3337
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Dehydration OMIM:143500
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Dehydration OMIM:264350
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia... OMIM:618120
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Hyperammonemia, Ataxia, Coma, Renal insufficiency, Lethargy ORPHA:27
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyper... ORPHA:77296
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Edema, Dehydration OMIM:616069
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Methylmalonic Aciduria, Cblb Type
Lethargy, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyp... OMIM:251110
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy OMIM:617829
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Gait disturbance, Lethargy ORPHA:26
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Cirrhosis, Familial
Lethargy, Increased level of L-fucose in urine, Increased level of propylene glycol in blood OMIM:215600
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy OMIM:606777
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Failure to thrive, Isothenuria, Sho... OMIM:611590
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomeg... ORPHA:29073
Propionic Acidemia
Dystonia, Short stature, Failure to thrive, Hyperglycinemia, Hyperammonemia, Increased level of h... OMIM:606054
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Hyperglycine... OMIM:619386
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Methylmalonic Aciduria, Cbla Type
Lethargy, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyp... OMIM:251100
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Edema, Weight loss, Abnormal circulating prote... ORPHA:103910
Diarrhea 2, With Microvillus Atrophy
Dehydration, Growth delay OMIM:251850
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Failure to thrive, Episodic ammonia intoxication, Hyperammonemia, Ataxia, Coma... OMIM:311250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Renal tubular dysfunction, Growth delay, Hyperammonemia, Coma, Renal insufficiency, Let... ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... OMIM:616828
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Nephrogenic Diabetes Insipidus
Growth delay, Hypernatremia, Short stature, Failure to thrive, Hypernatremic dehydration, Enuresi... ORPHA:223
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Ataxia, Coma, Cerebral... OMIM:237300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Short stature, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Short stature, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria OMIM:304800
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Hyperammonemia, Ataxia, Coma, Organic aciduria, Lethargy ORPHA:79242
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Aminoaciduria, Hypokalemia, Nephrocalcinosi... ORPHA:47159
Combined Oxidative Phosphorylation Deficiency 2
Edema, Small for gestational age, Lethargy OMIM:610498
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Lethargy OMIM:618224
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Hereditary Central Diabetes Insipidus
Weight loss, Growth delay, Lethargy ORPHA:30925
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Weight loss, Salmonella osteomyelitis, Anemia, Splenomegaly, Hepato... OMIM:209950
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Failure to thrive, Increased urine alpha-ketoglutarate concentration, Hyperam... ORPHA:2394
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Dehydration, Hypocalciuria, Renal p... OMIM:607364
Maple Syrup Urine Disease
Elevated circulating L-alloisoleucine concentration, Increased level of hippuric acid in urine, A... OMIM:248600
Omenn Syndrome
Hypoproteinemia, B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, O... ORPHA:398063
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Small for gestational age, Hyperalaninemia, Episodic ataxia, Lethargy OMIM:312170
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Ataxia, Polyuria, Dehydration OMIM:560000
Bartter Syndrome, Type 1, Antenatal
Short stature, Hyperprostaglandinuria, Renal potassium wasting, Renal salt wasting, Increased cir... OMIM:601678
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... OMIM:603553
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Failure to thrive, Proximal tubu... ORPHA:18
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Wolcott-Rallison Syndrome
Hyponatremia, Growth delay, Ascites, Dehydration, Short stature, Hyperbilirubinemia, Hyperammonem... ORPHA:1667
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Decreased urinary potassium, Proxima... ORPHA:427
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy OMIM:618228
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,... ORPHA:89938
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Growth delay, Hypokalemia, Failure to thrive, Hypochloremia, Polyhydramnios, Dehydr... OMIM:214700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Intrauterine growth retardation, Dehydration OMIM:618958
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Coma, Cerebral edema, Hyperglycinuria, Decreased plasma carni... OMIM:201450
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Hyperglutaminemia, Failure to thrive, Hyperalaninemia, Acute hyperammonemia, Hyperamm... ORPHA:927
Galactosemia
Gait disturbance, Dystonia, Hypergalactosemia, Gait imbalance, Ascites, Failure to thrive, Increa... ORPHA:352
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Growth delay, Hypokalemia, ... ORPHA:411629
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... OMIM:277460
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive, Renal salt wasting, Dehydration, Delayed puberty OMIM:300200
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Drowsiness, Intrauterine growth retardation, Failure to t... ORPHA:2169
Citrullinemia Type I
Torticollis, Failure to thrive, Hyperammonemia, Ataxia, Coma, Loss of consciousness, Elevated pla... ORPHA:247525
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephr... OMIM:208085
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Failure to thri... ORPHA:99885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Neonatal death, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia... OMIM:263200
Temple Syndrome
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Lethargy OMIM:618683
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonem... ORPHA:42
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Small for gestational age, Large for gestational age, Loss of consciousness, Decrease... ORPHA:324575
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Psychomotor deteriorat... ORPHA:79237
Citrullinemia, Classic
Oroticaciduria, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyperammonemia, Ataxia, Co... OMIM:215700
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Large for gestational age, Loss of consciousness, Decreased circulating free fatty ac... ORPHA:276556
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Hypospadias, Prolonged QT interval, Noncompaction cardiomyopathy, Intraut... OMIM:610198
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Increased circulating ferritin concentration, Reduced na... OMIM:616050
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Failure to thrive, Acute hyperammonemia, Coma, Lethargy OMIM:210200
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level, Dehydration OMIM:177735
Reticular Dysgenesis
Failure to thrive, Weight loss, Dehydration ORPHA:33355
Beta-Ketothiolase Deficiency
Edema, Weight loss, Excessive daytime somnolence, Hyperuricemia, Hyperammonemia, Ataxia, Coma, Re... ORPHA:134
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Broad-based gait, Hypoalbuminemia OMIM:618805
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Lethargy OMIM:605711
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Proportionate short statur... ORPHA:171876
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... ORPHA:64753
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Cholera
Abnormality of renal excretion, Hyponatremia, Lethargy, Decreased urine output, Hypokalemia, Acut... ORPHA:173
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Large for gestational age, Loss of consciousness, Decreased circulating free fatty ac... ORPHA:276575
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Juvenile rheumat... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Meth... OMIM:277400
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Leukopenia, Lethargy ORPHA:99828
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyric crisis, Gai... ORPHA:101150
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Multiple Carboxylase Deficiency
Hyperammonemia, Ataxia, Coma, Organic aciduria, Lethargy ORPHA:148
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Drowsiness, Abnormal circulating fatty-acid concentration, Increased body... ORPHA:263455
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Urinary incontinence, Inability to walk, Generalized dy... ORPHA:255
Carnitine Deficiency, Systemic Primary
Failure to thrive, Excessive daytime somnolence, Hyperammonemia, Coma, Decreased plasma carnitine... OMIM:212140
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Dystonia, Ataxia, Lethargy ORPHA:71277
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Increased body weight, Lethargy ORPHA:276608
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Coma, Loss of consciousness, Transient hyperlipidemia, Lethargy ORPHA:156
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Leishmaniasis
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... ORPHA:507
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Nephrocalcinosis, Increased urin... OMIM:241200
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Dystonia, Ataxia, Lethargy OMIM:618226
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Pyruvate Carboxylase Deficiency
Dystonia, Growth delay, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased lev... ORPHA:3008
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulati... ORPHA:2070
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Large for gestational age, Loss of consciousness, Increased C-peptide level, Hypoglyc... ORPHA:276580
Congenital Generalized Lipodystrophy
Bone cyst, Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Inc... ORPHA:528
Saccharopinuria
Hypercystinemia, Cognitive impairment, Abnormality of circulating enzyme level, Hyperammonemia, M... ORPHA:3124
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Colchicine Poisoning
Hyponatremia, Hypokalemia, Dehydration, Hypophosphatemia, Hypomagnesemia, Oliguria, Reduced consc... ORPHA:31824
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Renal tubular acidosis, Hyperammonemia, Coma,... OMIM:255120
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria, Small for gestational age, Elevated circulating creatine kinase concentration, Fai... OMIM:609015
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Methylmalonic acidemia, Growth delay, Methylmalonic aciduria, Homocystinuria... OMIM:614857
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Failure to thrive, Acute hyperammonemia, Coma, Hyperglycinuria, Organic aciduria, Leth... OMIM:210210
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Methylmalonic aciduria,... OMIM:277410
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Hyperhomocystinemia, Glomerulopathy, Hypomethioninemia, Methylmalonic acidemia, Intraut... ORPHA:79282
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Chédiak-Higashi Syndrome
Neutropenia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Panc... ORPHA:167
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Failure to thrive, Hypoalbuminemia ORPHA:79320
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Lamellar Ichthyosis
Renal insufficiency, Short stature, Dehydration ORPHA:313
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Mental deterioration OMIM:617575
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Argininosuccinic Aciduria
Oroticaciduria, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyperammonemia, Ataxia, Co... OMIM:207900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Intrauterine growth retardation, Failure to thrive, Abnormal circulating acetylcar... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Anemia, Hypoalbuminemia, Thrombocytopenia, Camptodactyly OMIM:608104
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Cog4-Cdg
Hypercholesterolemia, Ataxia, Hepatosplenomegaly, Irritability, Thrombocytopenia ORPHA:263501
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Head-banging OMIM:182290
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... ORPHA:231144
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Lethargy OMIM:246900
Microvillus Inclusion Disease
Abnormal renal physiology, Dehydration, Nephrocalcinosis ORPHA:2290
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Osteolytic defects ... ORPHA:2457
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Cyclic Vomiting Syndrome
Ataxia, Attention deficit hyperactivity disorder, Growth delay, Lethargy OMIM:500007
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Edema, Weight loss, Hyperuricemia, Hyperammonemia, Ataxia, Coma, 3-Methylglutaric acidu... ORPHA:20
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Hypokalemia, Failure to thrive, Weight loss, Increased serum bile... OMIM:619377
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Myoglobinuria, Delirium, Hypernatremia, Elevated circulating creatine... ORPHA:94093
Netherton Syndrome
Hydronephrosis, Short stature, Ectopic kidney, Aminoaciduria, Dehydration ORPHA:634
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Lethargy OMIM:618225
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Intrauterine growth retardation, Growth delay, Methylmalonic aciduria, Failu... ORPHA:79284
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Ataxia, Short stature, Lethargy OMIM:201100
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Failure to thrive in infancy, Lethargy, Hyperalaninemia OMIM:619064
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia, Cognitive impairment, Progressive neurologic deterioration, Hypercho... ORPHA:90065
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Lethargy, Ketonuria OMIM:615751
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic aciduria, Cystathion... OMIM:277380
Hemochromatosis, Type 2A
Increased serum iron, Increased circulating ferritin concentration, Lethargy OMIM:602390
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:26793
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Idiopathic Congenital Hypothyroidism
Lethargy, Facial edema, Neonatal hyperbilirubinemia ORPHA:95717
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Weight loss, Dehydration, Low plasma citrulline, Abnormal blood ... ORPHA:95427
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Ir... ORPHA:292
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperammonemia, Coma, Hyperornithinemia, Confusion, Lethargy OMIM:238970
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Anemia, Hypomagnesemia, Reduced proportion of CD4+ effector mem... ORPHA:90362
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Elevated circulating... OMIM:616733
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Cystinosis, Nephropathic
Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Failure to thrive in infancy, Gr... OMIM:219800
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency, Lethargy OMIM:614922
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Failure to thrive, Gait disturbance, Ataxia, Lethargy OMIM:615838
Classic Galactosemia
Dystonia, Gait disturbance, Gait imbalance, Ascites, Ataxia, Attention deficit hyperactivity diso... ORPHA:79239
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporosis, Anemia, K... ORPHA:79240
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Failure to thrive, Proximal tubulopathy, Hypophosphat... OMIM:229600
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy OMIM:274400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... OMIM:278000
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Elevated circula... OMIM:608836
Transcobalamin Ii Deficiency
Failure to thrive, Ataxia, Methylmalonic aciduria, Lethargy OMIM:275350
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Arthritis, Increased ... OMIM:604250
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Lethargy OMIM:614299
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hyponatremia, Hyperkalemia, Penoscrotal hypospadias, Failure to thrive, Renal salt w... ORPHA:90791
Fructose-1,6-Bisphosphatase Deficiency
Coma, Increased urinary glycerol, Lethargy OMIM:229700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Dicarboxylic ... OMIM:201475
Hepatoportal Sclerosis
Leukopenia, Cognitive impairment, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoal... ORPHA:64743
Meningococcal Meningitis
Drowsiness, Reduced consciousness/confusion, Elevated circulating C-reactive protein concentratio... ORPHA:33475
Pyruvate Dehydrogenase Deficiency
Dystonia, Gait disturbance, Intrauterine growth retardation, Growth delay, Ataxia, Lethargy ORPHA:765
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Leukoencephalopathy With Vanishing White Matter
Unsteady gait, Gait disturbance, Lethargy OMIM:603896
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypocholesterolemia, Failure to thrive, Abnormal subcutaneous fat tissue distribu... OMIM:212065
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Holocarboxylase Synthetase Deficiency
Lethargy, Coma, Organic aciduria, Hyperammonemia OMIM:253270
Dihydropyrimidinase Deficiency
Growth delay, Excessive daytime somnolence, Lethargy OMIM:222748
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
Hereditary Fructose Intolerance
Growth delay, Hypophosphatemia, Hyperuricemia, Coma, Chronic kidney disease, Hypermagnesemia, Ren... ORPHA:469
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia, Diabetes mellitus ORPHA:2315
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Pearson Syndrome
Growth delay, Hypokalemia, Lacticaciduria, Corneal stromal edema, Dehydration, Small for gestatio... ORPHA:699
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:264580
Enteric Anendocrinosis
Dehydration ORPHA:83620
Familial Cold Urticaria
Dehydration ORPHA:47045
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Lethargy ORPHA:49827
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Central Neurocytoma
Ataxia, Coma, Lethargy ORPHA:73256
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Ascites, Edema, Lethargy ORPHA:391673
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... OMIM:238600
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dystonia, Hyperphenylalaninemia OMIM:233910
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Dysmetria, Steppage... ORPHA:14
Idiopathic Intracranial Hypertension
Obesity, Lethargy ORPHA:238624
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Scrub Typhus
Lethargy, Renal insufficiency, Reduced consciousness/confusion ORPHA:83317
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... ORPHA:168558
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Ascites, Dehydration, Failure to thrive, Weight loss, Hyper... ORPHA:275761
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... ORPHA:36234
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Aicardi-Goutieres Syndrome 9
Dystonia, Failure to thrive, Weight loss, Self-mutilation, Osteoporosis, Anemia, Hepatosplenomega... OMIM:619487
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... ORPHA:289548
Insulinoma
Coma, Reduced consciousness/confusion, Fluctuations in consciousness, Increased body weight, Leth... ORPHA:97279
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Encephalopathy, Recurrent, Of Childhood
Athetosis, Truncal ataxia, Lethargy OMIM:130950
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonemia, Coma, ... OMIM:212138
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Cognitive impairment, Anemia, Gout, Hyperuricemia OMIM:617056
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Acute kidney i... ORPHA:810
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Postnatal growth retardation... ORPHA:556037
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hyperhomocystinemia, Hypomethioninemia, Gait disturbance, Cystathioninemia, Failure to thrive, Ho... ORPHA:395
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Flexion contracture, Hypoalbumi... OMIM:617303
Smith-Magenis Syndrome
Gait disturbance, Self-injurious behavior, Hypercholesterolemia, Hypertriglyceridemia, Anxiety, A... ORPHA:819
Familial Thyroid Dyshormonogenesis
Lethargy, Abnormal circulating thyroglobulin level, Facial edema, Neonatal hyperbilirubinemia ORPHA:95716
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated urinary do... ORPHA:230
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Growth delay, Urinary retention, Failure to thrive, Aplasia... ORPHA:79404
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... ORPHA:88618
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Ogden Syndrome
Torticollis, Shuffling gait, Excessive daytime somnolence, Postnatal growth retardation, Lethargy ORPHA:276432
Susac Syndrome
Gait ataxia, Confusion, Lethargy ORPHA:838
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia, Osteopenia OMIM:249310
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria, Failure to thrive, Spastic gait, Hyperammonemia, Abnormal circulating citrulline ... ORPHA:415
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia OMIM:600649
Resistance To Thyrotropin-Releasing Hormone Syndrome
Abnormal circulating thyroglobulin level, Growth delay, Overweight, Lethargy ORPHA:99832
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Oste... OMIM:612852
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol... ORPHA:370
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lipodys... OMIM:617099
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Weight loss, Anemia, Hypoalbuminemia, Liver abscess ORPHA:67
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Splenomegaly, Hypocalcemia OMIM:235255
Oculocerebrorenal Syndrome Of Lowe
Short stature, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hypercalciu... ORPHA:534
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Failure to thrive, Anemia, Decreased serum iron, Abnormal circulating selen... ORPHA:89842
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal circulati... ORPHA:90674
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia ORPHA:367
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia, Osteopenia ORPHA:2479
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus, Liver abscess ORPHA:69663
Typhoid
Ataxia, Coma, Lethargy ORPHA:99745
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Weight loss, Elevated transferrin saturation, Increased circulat... ORPHA:465508
Isolated Complex I Deficiency
Intrauterine growth retardation, Failure to thrive, Proximal tubulopathy, Ataxia, Increased serum... ORPHA:2609
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Dehydration ORPHA:92050
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hypoglycemia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cogniti... ORPHA:79259
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Coma, Inability to walk, Craniofacial dystonia, Gait ataxia, Confusion, Lethargy OMIM:607483
Myxedema
Lethargy OMIM:255900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Anemia, Neutrophilia, Elevated circulating C-reactive protein concent... ORPHA:54251
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Staphylococcal Necrotizing Pneumonia
Pleural empyema, Pleural effusion, Elevated circulating C-reactive protein concentration, Confusi... ORPHA:36238
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Cerebral edema, Ataxia, Lethargy OMIM:618321
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... ORPHA:37042
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Visceral Steatosis, Congenital
Neonatal death, Coma, Renal steatosis, Hypocalcemia, Lethargy OMIM:228100
Harlequin Ichthyosis
Dehydration ORPHA:457
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Hypocalcemia ORPHA:1655
Pseudo-Torch Syndrome 2
Ascites, Lethargy OMIM:617397
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Coma, Tip-toe gait, Hypocalcemia, Lethargy ORPHA:746
Congenital Disorder Of Glycosylation, Type Iic
Anxiety, Cellulitis, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Biotinidase Deficiency