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
decreased grip strength Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-09
increased circulating amylase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 3.03×10-07
decreased bone mineral content Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 4.45×10-06
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 4.72×10-14
increased circulating creatinine level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 3.26×10-06
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.05×10-05
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 7.60×10-12
increased circulating cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.13×10-05
increased circulating total protein level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.03×10-07
decreased circulating chloride level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.63×10-06
decreased bone mineral density Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.79×10-06
increased circulating HDL cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 5.00×10-06
impaired glucose tolerance Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 9.39×10-05
decreased locomotor activity Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.47×10-15
increased neutrophil cell number Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.43×10-05
increased lean body mass Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.15×10-06
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.16×10-32
decreased locomotor activity Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.13×10-08
decreased total body fat amount Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.50×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.67% (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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

32 Images

Adult LacZ

LacZ Images Wholemount

24 Images

Echo

M-Mode Images

48 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 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

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
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Failure to thrive, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy ORPHA:28
Hypercalcemia, Infantile, 1
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Dehydration,... OMIM:143880
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Coma, Dibasicaminoaciduria, Hyperammonemia, Growth delay, Lethargy OMIM:238750
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Central Diabetes Insipidus
Weight loss, Nocturia, Failure to thrive, Excessive daytime somnolence, Dehydration, Hyponatremia... ORPHA:178029
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
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
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Dehydration OMIM:601410
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Growth delay, Dehydration, Nephroc... OMIM:602722
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ata... ORPHA:158048
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia OMIM:607250
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Growth de... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive, Growth de... OMIM:203400
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased... OMIM:615703
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure ... OMIM:251120
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Lethargy, Growth delay, Uraciluria OMIM:274270
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... ORPHA:90041
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated circulating acylcarnitine concentration, Dicarboxylic acidur... ORPHA:79159
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Small for gestational age, Glycos... ORPHA:97362
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ethylmalonic aciduria, Letha... ORPHA:26792
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Failure to thrive, Dehydration, Abnormality... ORPHA:99886
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy, Growth delay, Short stature OMIM:618573
Familial Renal Glucosuria
Recurrent urinary tract infections, Glycosuria, Moderate postnatal growth retardation, Nephropath... ORPHA:69076
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Hyponatremia OMIM:214700
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponat... ORPHA:556030
Glutaric Acidemia Type 3
Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Glutaric aciduria, Elevate... ORPHA:35706
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Glucose-Galactose Malabsorption
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Dehydration, Renal insufficiency, Hyper... ORPHA:35710
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia ORPHA:94124
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Failure to thrive, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy ORPHA:79312
Combined Malonic And Methylmalonic Acidemia
Methylmalonic acidemia, Dicarboxylic aciduria, Dicarboxylic acidemia, Failure to thrive, Dehydrat... ORPHA:289504
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia ORPHA:181393
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Dementia, Elevated circulating cr... OMIM:208920
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Chronic Hiccup
Weight loss, Dehydration ORPHA:396
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Isovaleric Acidemia
Coma, Lethargy, Hyperglycinuria, Dehydration OMIM:243500
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Lethargy ORPHA:2089
Carnitine Deficiency, Systemic Primary
Coma, Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circulating creatine kinase con... OMIM:212140
N-Acetylglutamate Synthase Deficiency
Coma, Failure to thrive, Hyperammonemia, Confusion, Lethargy, Increased level of L-glutamic acid ... OMIM:237310
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Coma, Stage 5 chronic kidn... OMIM:251000
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy ORPHA:79283
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Irritabi... OMIM:267700
Glycerol Kinase Deficiency
Hypertriglyceridemia, Short stature, Small for gestational age, Coma, Increased urinary glycerol,... OMIM:307030
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Failure to thrive, Hyponatremia, Dehydration OMIM:264350
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy ORPHA:254857
Cystinosis
Aminoaciduria, Short stature, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Dela... ORPHA:213
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Cognitive impairment, Suicidal ideation, Hyperostosis frontalis interna, Diabetes ... ORPHA:77296
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis, Increased LDL cholesterol co... OMIM:610947
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Saccharopinuria
Gait ataxia, Hyperlysinemia, Hyperlysinuria, Cognitive impairment, Citrullinuria, Abnormality of ... ORPHA:3124
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Lethargy, Intrauterine growth retardation OMIM:617065
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperglycinuria OMIM:605899
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypophosphatemic rickets,... ORPHA:3337
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy ORPHA:622
Multiple Myeloma
Anemia, Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemi... ORPHA:29073
Propionic Acidemia
Hyperglycinemia, Short stature, Coma, Failure to thrive, Increased level of hippuric acid in urin... OMIM:606054
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Hypokalemia, Isothenuria, Distal renal tubular acidosis, Failure to thrive, Nephro... OMIM:611590
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive, Hypertonic dehydration OMIM:606824
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia, Hypernatremic dehydration OMIM:143860
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... OMIM:619386
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Lethargy, Meth... OMIM:236270
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy ORPHA:27
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypercholeste... OMIM:616267
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Coma, Failure to thrive, Hyperammonemia, Dehy... OMIM:251110
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Edema, Dehydration, Abnormal circ... ORPHA:103910
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia OMIM:613090
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... ORPHA:411634
Citrullinemia Type Ii
Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... ORPHA:247585
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat... OMIM:616828
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... OMIM:601678
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hyposthenuria, Enuresis nocturna, Short stature, Hypernatremic dehydration, Hydro... ORPHA:223
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Lethargy ORPHA:26
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Edema, Neonatal death, Lethargy OMIM:610498
Methylmalonic Aciduria, Cbla Type
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Coma, Failure to thrive, Hyperammonemia, Dehy... OMIM:251100
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria OMIM:615026
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Hypertonic dehydration, Failure to thrive, Polyuria, Megacystis, Hypernatremia OMIM:125800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g... ORPHA:2260
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Hypertonic dehydration, Failure to thrive, Polyuria, Megacystis, Hypernatremia OMIM:304800
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Coma, Failure to thrive, Hyperammonemia, Growth delay, Dehydration OMIM:615453
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Dysdiadochokinesis, Gait disturbance, Short term memory impairment, Ataxia,... OMIM:277460
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Irritability, Ataxia, Hepatosplenomegaly, Pancytop... OMIM:603553
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... ORPHA:47159
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Hyperammonemia, Growth delay, Renal insufficiency, Lethargy, Renal tubular dysfunction ORPHA:289916
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Coma, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated ... OMIM:210200
Hereditary Central Diabetes Insipidus
Lethargy, Growth delay, Weight loss ORPHA:30925
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Bartter Syndrome, Type 3
Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchloriduria, Increased u... OMIM:607364
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema, Coma, Episodic ammonia intoxication, Failure to thrive, Hyperammonemia, Lethargy,... OMIM:237300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Short stature, Elevated circulating creatine kinase concentration, H... OMIM:618120
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small for gestational age, Oligohyd... OMIM:208085
Bartter Syndrome Type 4
Impaired renal concentrating ability, Polyhydramnios, Small for gestational age, Acute kidney inj... ORPHA:89938
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy OMIM:618228
Holocarboxylase Synthetase Deficiency
Weight loss, Coma, Organic aciduria, Hyperammonemia, Growth delay, Lethargy ORPHA:79242
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Confusion, Lethargy OMIM:606777
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Failure to thrive, Dehydration OMIM:616069
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Exce... OMIM:222748
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, Elevated plasma br... ORPHA:2394
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... OMIM:241200
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Familial Hypoaldosteronism
Hyperkalemia, Renal salt wasting, Proximal renal tubular acidosis, Increased circulating renin le... ORPHA:427
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Glomerulopathy, Drowsiness, Hyperhomocystinemia, Hypomethioninemia, Fa... ORPHA:2169
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Adrenal Hypoplasia, Congenital
Renal salt wasting, Failure to thrive, Delayed puberty, Hyponatremia, Dehydration OMIM:300200
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Psychomotor deterio... ORPHA:79237
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... ORPHA:411629
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... ORPHA:18
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Cerebral edema, Coma, Decreased plasma carnitine, Lethargy, Hyperglycinuria, Medium chain dicarbo... OMIM:201450
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Intrauterine growth retardation, Dehydration OMIM:618958
Maple Syrup Urine Disease
Cerebral edema, Coma, Increased level of hippuric acid in urine, Elevated plasma branched chain a... OMIM:248600
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... OMIM:179800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El... ORPHA:64753
Multiple Mitochondrial Dysfunctions Syndrome 1
Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin... OMIM:605711
Wolcott-Rallison Syndrome
Decreased body weight, Short stature, Hyperbilirubinemia, Hyperammonemia, Growth delay, Dehydrati... ORPHA:1667
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... OMIM:615751
2-Methylbutyryl-Coa Dehydrogenase Deficiency
2-ethylhydracylic aciduria, Lethargy OMIM:610006
Hyperinsulinism Due To Hnf1A Deficiency
Increased C-peptide level, Drowsiness, Small for gestational age, Decreased circulating free fatt... ORPHA:324575
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Cholera
Abnormality of renal excretion, Hyponatremia, Acute kidney injury, Decreased urine output, Hypoka... ORPHA:173
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Dehydration OMIM:177735
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Homocitrullinuria, Failure to thrive, Hyperammonemia, Hyperornithinemia, Confusion, Lethargy OMIM:238970
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Large for ges... ORPHA:276556
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Reticular Dysgenesis
Failure to thrive, Weight loss, Dehydration ORPHA:33355
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperalaninemia, Delirium, Drowsiness, Coma, Acute hyperammonemia, Failure to thrive, Hyperammone... ORPHA:927
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Dehydration, Proporti... ORPHA:171876
Dengue Fever
Lethargy, Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Aminoaciduria, Lethargy OMIM:250620
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Coma, Cachexia, Dicarboxylic aciduria, Elevated circulati... ORPHA:42
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Citrullinemia, Classic
Cerebral edema, Coma, Episodic ammonia intoxication, Oroticaciduria, Failure to thrive, Hyperammo... OMIM:215700
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Elevated circu... OMIM:614857
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration OMIM:617872
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Large for ges... ORPHA:276575
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Beta-Ketothiolase Deficiency
Hyperuricemia, Weight loss, Ketonuria, Coma, Edema, Excessive daytime somnolence, Hyperammonemia,... ORPHA:134
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620126
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia OMIM:602522
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability ORPHA:263501
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Ketonuria, Coma, Glycosuria, Abnormality of the upper urinary tract, Moderate albumi... ORPHA:99885
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620125
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Coma, Transient hyperlipidemia, Loss of consciousness, Lethargy ORPHA:156
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Drowsiness, Coma, Glycosuria, Large for gestational age, Abnormal circula... ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Aggressive behavior, Elevated circulating guanidinoacetic acid concen... OMIM:612736
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Lethargy, Drowsiness, Increased body weight ORPHA:276608
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Renal insufficiency, Delirium, Cystathioninuri... OMIM:277400
Fanconi Renotubular Syndrome 3
Rickets, Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Lethargy, Growth delay OMIM:613561
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperleucinemia, Ketonuria, Coma, Decreased plasma carnitine, Acute hyperammonemia, Organic acidu... OMIM:210210
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Coma, Dicarboxylic aciduria, Elevated circulating creatine kinase concent... OMIM:255120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Oligohydramni... OMIM:263200
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hyperinsulinemia, Insulin resistance, Bone cyst, Diabetes mellitus, Hy... ORPHA:528
Apolipoprotein C-Ii Deficiency
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... OMIM:207750
Citrullinemia Type I
Coma, Failure to thrive, Hyperammonemia, Loss of consciousness, Lethargy, Elevated plasma citrulline ORPHA:247525
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... OMIM:219800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Drowsiness, Large for gestational age, Hypoglycemic coma, Loss of cons... ORPHA:276580
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Synovitis, Elevated circulating creatinine concentration ORPHA:567544
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Hydrops fetalis, Small for gestational age, Ele... OMIM:609015
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... OMIM:603554
Chédiak-Higashi Syndrome
Inability to walk, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morphol... ORPHA:167
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Colchicine Poisoning
Hyponatremia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Olig... ORPHA:31824
Multiple Carboxylase Deficiency
Coma, Hyperammonemia, Lethargy, Organic aciduria ORPHA:148
Hemochromatosis Type 2
Elevated transferrin saturation, Lethargy, Abnormality of iron homeostasis, Increased circulating... ORPHA:79230
Lamellar Ichthyosis
Renal insufficiency, Short stature, Dehydration ORPHA:313
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Oligohydramnios, Failure to thrive, Severe intrauterine... ORPHA:231144
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... OMIM:210250
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Polyhydramnios, Hypermethioninemia, 4-hydroxyphenylacetic aciduria, Hyperbilirubinemia, Failure t... OMIM:617156
Galactosemia
Renal insufficiency, Hypergalactosemia, Increased level of galactitol in plasma, Failure to thriv... ORPHA:352
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Acroosteolysis of distal phalanges... ORPHA:2457
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Cerebral edema, Coma, Elevated circulating uracil concentration, Episodic ammonia intoxication, O... OMIM:311250
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... ORPHA:71212
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Elevated circulating creat... ORPHA:26793
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Failure to thrive, Decreased serum creatinine, Hypocystinemia OMIM:617744
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... OMIM:615812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hemolytic-uremic syndrome, Glomerulopathy, Hydrops fetalis, Methylmalonic aciduria, Delirium, Met... ORPHA:79282
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Progressive neurologic deterioration, Leukocytosis, Hypercholesterolemia, H... ORPHA:90065
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Unilateral renal ag... ORPHA:79284
Netherton Syndrome
Aminoaciduria, Short stature, Ectopic kidney, Dehydration, Hydronephrosis ORPHA:634
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
3-Hydroxy-3-Methylglutaric Aciduria
Hyperuricemia, Weight loss, Ketonuria, Coma, Edema, Hypoglycemic coma, Hyperammonemia, Dehydratio... ORPHA:20
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Failure to thrive, Increased serum bile... OMIM:619377
Argininosuccinic Aciduria
Aminoaciduria, Cerebral edema, Coma, Episodic ammonia intoxication, Oroticaciduria, Failure to th... OMIM:207900
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy ORPHA:71277
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... ORPHA:90362
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Hyperalaninemia, Lethargy, Increased serum pyruvate OMIM:312170
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration ORPHA:275555
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Coma, Hypertaurinemia, Lacticaciduria, Failure... ORPHA:3008
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Hemochromatosis, Type 2A
Lethargy, Increased serum iron, Increased circulating ferritin concentration OMIM:602390
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... OMIM:615925
Secondary Short Bowel Syndrome
Weight loss, Abnormal blood ion concentration, Failure to thrive, Growth delay, Dehydration, Low ... ORPHA:95427
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Failure to thrive, Dehydration OMIM:214150
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia OMIM:616222
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Hypoproteinemia OMIM:608093
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Lethargy, Growth delay OMIM:618226
Neuroleptic Malignant Syndrome
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Delirium, Hyponatremia, Coma, Acute kidne... ORPHA:94093
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Renal Fanconi syndrome, Small for gestational age, Hyperbilirubinemia, Failure t... OMIM:557000
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Increased serum pyruvate OMIM:246900
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Severe Canavan Disease
Lethargy ORPHA:314911
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Cystathioninuria, Methylmalonic acidemia, Small for gestational age, Short stat... OMIM:277380
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Lethargy OMIM:614922
Holocarboxylase Synthetase Deficiency
Coma, 3-hydroxyisovaleric aciduria, Organic aciduria, Hyperammonemia, Elevated urinary 3-methylcr... OMIM:253270
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Coma, Hemoglobinuria, Acute kidney injury, Unconjugated hyperbilirubinemia, Hypokalemia, ... ORPHA:90038
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Cirrhosis, Familial
Increased level of L-fucose in urine, Ascites, Lethargy, Increased level of propylene glycol in b... OMIM:215600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Increased serum pyruvate OMIM:618225
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Decreased testicular size, Dilated cardiomyopathy, Congestive heart failure... OMIM:610198
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... OMIM:278000
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Lethargy OMIM:611523
Smith-Magenis Syndrome
Hypertriglyceridemia, Head-banging, Self-mutilation, Hypercholesterolemia OMIM:182290
Thyroid Dyshormonogenesis 1
Lethargy, Growth delay OMIM:274400
Idiopathic Congenital Hypothyroidism
Lethargy, Neonatal hyperbilirubinemia, Facial edema ORPHA:95717
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy, Increased urinary glycerol OMIM:229700
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Anemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, R... ORPHA:79240
Johanson-Blizzard Syndrome
Diabetes mellitus, Anemia, Hypoproteinemia ORPHA:2315
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Coma, Glycosuria, Hyperphosphaturia... OMIM:229600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hypospadi... ORPHA:90791
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout, Elevated circulating creatinine concentration, Hyperuricemia, Self-mutilation ORPHA:79233
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, 3-Methylglutaconic aciduria, Rhizomelia, Growth delay, Dehydration, Intrauterine ... OMIM:616271
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Lethargy, Methylmalonic aciduria,... OMIM:277410
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circu... OMIM:201475
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Meningococcal Meningitis
Drowsiness, Elevated circulating C-reactive protein concentration, Reduced consciousness/confusio... ORPHA:33475
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:615838
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Renal dysplasia, Enlarged kidney, Pol... OMIM:608836
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Coma, Decreased plasma carnitine, Dicarboxylic ... ORPHA:159
Enteric Anendocrinosis
Dehydration ORPHA:83620
Hyperlipoproteinemia, Type I
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... OMIM:238600
Hereditary Fructose Intolerance
Hyperuricemia, Coma, Hypophosphatemia, Hypermagnesemia, Growth delay, Renal insufficiency, Lethar... ORPHA:469
Cyclic Vomiting Syndrome
Lethargy, Growth delay OMIM:500007
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Progressive clavicular acroosteolysi... OMIM:248370
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Hyperkalemia, Failure to thrive, Hypochloremia, Hyponatremia ORPHA:90794
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Lethargy OMIM:617105
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase con... ORPHA:264580
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Short stature ORPHA:49827
Familial Cold Urticaria
Dehydration ORPHA:47045
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
Lysinuric Protein Intolerance
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Lethargy, Increased serum zinc, Intra... ORPHA:470
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Elevated circulating creatine kinase concentration, Hypoproteinemia, Leukocytosis, Spleno... OMIM:615895
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Necrotizing Enterocolitis
Small for gestational age, Edema, Hyponatremia, Ascites, Lethargy ORPHA:391673
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypercholesterolemia, Weight loss, Cachexia, Hyperkalemia... ORPHA:275761
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Dehydration, Nephrocalcinosis, Renal insufficiency, H... OMIM:259900
Dysbetalipoproteinemia
Hypercholesterolemia, Diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL c... ORPHA:412
Familial Isolated Restrictive Cardiomyopathy
Postnatal growth retardation, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, ... ORPHA:75249
Scrub Typhus
Reduced consciousness/confusion, Renal insufficiency, Lethargy ORPHA:83317
Dopa-Responsive Dystonia
Urinary incontinence, Lethargy ORPHA:255
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, ... OMIM:212138
Pearson Syndrome
Hydrops fetalis, Hyperalaninemia, Small for gestational age, Glycosuria, Hypophosphatemia, Hypoka... ORPHA:699
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Lethargy, Ethylmalonic aciduria OMIM:201470
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Abnormal ... ORPHA:168558
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Osteomyelitis, Os... ORPHA:232
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Hyperphenylalaninemia OMIM:233910
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Abnormal ... ORPHA:289548
Insulinoma
Fluctuations in consciousness, Coma, Reduced consciousness/confusion, Lethargy, Increased body we... ORPHA:97279
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Lethargy, Elevated circulating creatine kinase concentration OMIM:600649
Smith-Magenis Syndrome
Hypercholesterolemia, Self-injurious behavior, Gait disturbance, Anxiety, Hypertriglyceridemia ORPHA:819
Shigellosis
Hemolytic-uremic syndrome, Hyponatremia, Acute kidney injury, Abnormal blood ion concentration, U... ORPHA:810
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia, Facial edema ORPHA:95716
Dopamine Beta-Hydroxylase Deficiency
Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Dehydration, Elevated circula... ORPHA:230
Central Neurocytoma
Coma, Lethargy ORPHA:73256
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd... ORPHA:79404
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Pseudo-Torch Syndrome 2
Pleural effusion, Abnormal renal corticomedullary differentiation, Ascites, Lethargy OMIM:617397
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponat... ORPHA:556037
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Megalocornea-Mental Retardation Syndrome
Osteopenia, Ataxia, Hypercholesterolemia OMIM:249310
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole... ORPHA:370
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Classic Galactosemia
Delayed puberty, Ascites, Lethargy ORPHA:79239
Transcobalamin Ii Deficiency
Failure to thrive, Methylmalonic aciduria, Lethargy OMIM:275350
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Ataxia, Hypercholesterolemia ORPHA:2479
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Apathy, Progressive neurologic deterioration, Anxiety, Elevated circulating... ORPHA:247691
Pyruvate Dehydrogenase Deficiency
Growth delay, Lethargy, Intrauterine growth retardation ORPHA:765
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Short stature, Lethargy, Decreased serum zinc OMIM:201100
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Dehydration ORPHA:92050
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... OMIM:151660
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Weight loss, Elevated transferrin saturation, Increased circulat... ORPHA:465508
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Cognitive impairment, Abnormal ... ORPHA:79259
Infantile Liver Failure Syndrome 2
Hyperammonemia, Lethargy OMIM:616483
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Hypercholesterolemia, Hyponatremia, Dehydration, Nephrolithiasis, ... ORPHA:534
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cystathioninemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Lethargy, Homocystin... ORPHA:395
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Cognitive impairment, Elevated circulating creatinine concentratio... OMIM:235400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly ORPHA:1655
Susac Syndrome
Confusion, Lethargy ORPHA:838
Staphylococcal Necrotizing Pneumonia
Pleural empyema, Pleural effusion, Elevated circulating C-reactive protein concentration, Confusi... ORPHA:36238
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Isolated Complex I Deficiency
Proximal tubulopathy, Failure to thrive, Increased serum pyruvate, Lethargy, Intrauterine growth ... ORPHA:2609
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... OMIM:615558
Bacterial Toxic-Shock Syndrome
Septic arthritis, Osteomyelitis, Cellulitis, Arthritis, Fasciitis, Elevated circulating creatine ... ORPHA:36234
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Oroticaciduria, Failure to thrive, Hyperammonemia, Hyperornithinemia, Confusion, Lethargy, ... ORPHA:415
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Harlequin Ichthyosis
Dehydration ORPHA:457
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:90674
Ogden Syndrome
Excessive daytime somnolence, Lethargy, Postnatal growth retardation ORPHA:276432
Typhoid
Coma, Lethargy ORPHA:99745
Visceral Steatosis, Congenital
Renal steatosis, Coma, Lethargy, Hypocalcemia, Neonatal death OMIM:228100
Resistance To Thyrotropin-Releasing Hormone Syndrome
Abnormal circulating thyroglobulin level, Lethargy, Overweight, Growth delay ORPHA:99832
Cryoglobulinemia, Familial Mixed