banner
Genes Phenotypes Help, News, Blog

Gene: Aqp1 MGI:103201

Log in to follow

Gene Summary

Name:
aquaporin 1
Synonyms:
CHIP28

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.47×10-15
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 7.60×10-12
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 4.83×10-06
increased circulating total protein level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.03×10-07
decreased locomotor activity Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.13×10-08
increased lean body mass Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.15×10-06
increased circulating cholesterol level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.16×10-05
decreased grip strength Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-09
impaired glucose tolerance Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 9.39×10-05
decreased circulating chloride level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.37×10-06
increased neutrophil cell number Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.43×10-05
increased circulating creatinine level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.86×10-06
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 3.22×10-14
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.16×10-32
decreased total body fat amount Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.50×10-06
decreased exploration in new environment Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 1.05×10-05
decreased bone mineral content Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 4.45×10-06
increased circulating amylase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 4.23×10-07

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Phenotype associated images not available

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
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive ORPHA:28
Central Diabetes Insipidus
Hyponatremia, Dehydration, Weight loss, Depression, Lethargy, Failure to thrive, Nocturia ORPHA:178029
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Chronic Hiccup
Weight loss, Dehydration, Depression ORPHA:396
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Dehydration OMIM:601410
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... ORPHA:158048
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Growth delay, Nephrocalcinosis, Hypokalemia, Distal renal tubular ac... OMIM:602722
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy, Uraciluria, Failure to thrive OMIM:274270
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder OMIM:301033
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... OMIM:610600
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... OMIM:203400
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... OMIM:251120
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... ORPHA:79159
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Short stature, Proteinuria, Small for gestational age, Edema, Ch... ORPHA:97362
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, Increased level of methy... ORPHA:26792
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality of the urinary sys... ORPHA:99886
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... ORPHA:69076
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... ORPHA:289504
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Dehydration, Increased circulating reni... ORPHA:556030
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Ketonuria, Glutaric aciduria, Abnormality of ci... ORPHA:35706
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... ORPHA:35710
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga... OMIM:208920
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive ORPHA:2089
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive ORPHA:79312
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Osteoporosis, Depression, Memory impairment, Hyperostosis frontalis interna, H... ORPHA:77296
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Failure to thrive OMIM:264350
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... OMIM:222748
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... OMIM:612526
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Cystinosis
Renal insufficiency, Short stature, Proteinuria, Dehydration, Hypophosphatemia, Renal tubular dys... ORPHA:213
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H... ORPHA:247585
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... OMIM:610947
Glycine Encephalopathy 1
Lethargy, Hyperglycinemia, Hyperglycinuria OMIM:605899
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Small for gestational age, Lethargy OMIM:617065
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Isovaleric Acidemia
Lethargy, Hyperglycinuria, Dehydration OMIM:243500
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... ORPHA:3337
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, D... OMIM:251000
Saccharopinuria
Citrullinuria, Mental deterioration, Hypercystinemia, Hyperammonemia, Cystinuria, Gait ataxia, Hy... ORPHA:3124
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia OMIM:143860
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... ORPHA:29073
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... OMIM:236270
Combined Oxidative Phosphorylation Deficiency 52
Hyperalaninemia, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperam... OMIM:619386
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Short stature, Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Letharg... OMIM:611590
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:613090
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme... OMIM:616267
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Propionic Acidemia
Increased level of hippuric acid in urine, Short stature, Hyperglycinuria, Hyperammonemia, Dehydr... OMIM:606054
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Small for gestational age, Edema OMIM:610498
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Po... ORPHA:223
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... OMIM:212140
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria OMIM:615026
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Hyperammonemia, Dehydration ORPHA:27
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Dehydration, Hyperglyc... OMIM:251110
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive OMIM:304800
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylglutac... OMIM:618120
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia OMIM:237310
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... OMIM:603553
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... OMIM:251100
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Weight loss ORPHA:30925
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Polyhydramnios, Renal salt wasting, I... ORPHA:89938
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting, Dehydration, Delayed puberty, Failure to thrive OMIM:300200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Dehydration, Nephrocalcinosis, Renal tu... OMIM:208085
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... OMIM:241200
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... ORPHA:18
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Galactokinase Deficiency
Psychomotor deterioration, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of... ORPHA:79237
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Dehydration OMIM:618958
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Growth delay, Renal tubular dysfunction, Lethargy ORPHA:289916
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, L... OMIM:605711
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Short stature, Chronic kidney disease, Hyperammonemia, Dehydra... ORPHA:1667
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Hyperalaninemia, Ketonuria, Hypoargininemia, Hyperglutami... OMIM:615751
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... OMIM:210200
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss ORPHA:33355
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Cholesteryl Ester Storage Disease
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive OMIM:177735
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Lethargy, F... OMIM:237300
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Hyperkalemia, Dehydratio... ORPHA:171876
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Lethargy ORPHA:79242
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hyperammonemia, Dehydration, Growth delay, Failure to thrive OMIM:615453
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Aminoaciduria, Failure to thrive OMIM:250620
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Dengue Fever
Lethargy, Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Growth de... OMIM:614857
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration OMIM:616733
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... OMIM:248600
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo... ORPHA:173
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620126
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:602522
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
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... OMIM:614922
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Cerebral edema OMIM:201450
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Lethargy, Failure to thrive OMIM:613561
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Bone cyst, Hyperinsulinemia, Hyperch... ORPHA:528
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Rickets OMIM:615605
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Citrullinemia, Classic
Failure to thrive, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxicati... OMIM:215700
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Cystinosis, Nephropathic
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... OMIM:219800
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Glomerulopathy, Postnatal growth retardation, Hemolytic-uremic syndrome, Hyper... ORPHA:2169
Lamellar Ichthyosis
Renal insufficiency, Short stature, Dehydration ORPHA:313
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... ORPHA:167
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormal... ORPHA:79230
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Homocitrullinuria OMIM:238970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:617056
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated hyperbilirubinemia, ... OMIM:617156
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Hyperammonemia, Weight loss, Dehydration, Apathy, Hyperuricemia ORPHA:134
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Hyperhomocystinemia, Growth... ORPHA:79284
Netherton Syndrome
Short stature, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis ORPHA:634
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinem... OMIM:210210
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Hype... ORPHA:90065
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia OMIM:612736
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... OMIM:619377
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hyperalaninemia, Lethargy, Increased serum pyruvate, Small for gestational age OMIM:312170
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Weight loss, R... ORPHA:99885
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... ORPHA:263455
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration ORPHA:275555
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... OMIM:311250
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... ORPHA:79282
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... ORPHA:71212
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Hemochromatosis, Type 2A
Lethargy, Increased serum iron, Increased circulating ferritin concentration OMIM:602390
Isolated Atp Synthase Deficiency
Hyperalaninemia, Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Le... ORPHA:254913
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... ORPHA:324575
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Growth delay, ... ORPHA:95427
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Lethargy, Failure to thrive OMIM:618226
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Dehydration OMIM:214150
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Edema, Hyperammonemia, Weight loss, Dehydration, 3-Methylglutaric aciduria, Apathy, Hy... ORPHA:20
Severe Canavan Disease
Lethargy ORPHA:314911
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy OMIM:246900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Short stature, Small for gestational age, Cystathioninuria, Methylmalonic... OMIM:277380
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduri... OMIM:557000
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... ORPHA:3008
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... ORPHA:276556
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... ORPHA:31824
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Argininosuccinic Aciduria
Failure to thrive, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxicati... OMIM:207900
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy OMIM:618225
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Cirrhosis, Familial
Lethargy, Ascites, Increased level of L-fucose in urine, Increased level of propylene glycol in b... OMIM:215600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Increased body weight ORPHA:276608
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive OMIM:611523
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... OMIM:610198
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy, Neonatal hyperbilirubinemia ORPHA:95717
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... ORPHA:276575
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... ORPHA:79240
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Lethargy, Transient hyperlipidemia ORPHA:156
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Confusion ORPHA:54057
Citrullinemia Type I
Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia ORPHA:247525
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy OMIM:274400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Leth... ORPHA:927
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r... ORPHA:90791
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia, Anemia ORPHA:2315
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Hypospadias, Small for gestational age, Edema, Polyhydramnios, Hypocalcemia, Lethargy... OMIM:607143
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, 3-Methylglutaconic aciduria, Intrauterine ... OMIM:616271
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... OMIM:277410
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Large for gestational age, Increased C-peptide level ORPHA:276580
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly OMIM:608104
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Organic aciduria, Lethargy, 3-hyd... OMIM:253270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating s... ORPHA:470
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Lethargy OMIM:617105
Enteric Anendocrinosis
Dehydration ORPHA:83620
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... OMIM:201475
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive ORPHA:90794
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Osteopenia, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes me... OMIM:248370
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Short stature ORPHA:49827
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Familial Cold Urticaria
Dehydration ORPHA:47045
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Edema, Lethargy, Ascites ORPHA:391673
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive, Ethylmalonic aciduria OMIM:201470
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... OMIM:615895
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnatal g... ORPHA:75249
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Depression, Attention deficit hyperactivity dis... ORPHA:90674
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... ORPHA:412
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po... ORPHA:275761
Classic Galactosemia
Lethargy, Ascites, Depression, Delayed puberty ORPHA:79239
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine ... OMIM:615838
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Dehydrati... ORPHA:168558
Sickle Cell Anemia
Osteoporosis, Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbil... ORPHA:232
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Hyperphenylalaninemia OMIM:233910
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Postnatal growth retardation, Lactic... ORPHA:699
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Dehydrati... ORPHA:289548
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Pseudo-Torch Syndrome 2
Lethargy, Pleural effusion, Ascites, Abnormal renal corticomedullary differentiation OMIM:617397
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Abnormal blood... ORPHA:810
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperuricemia, Hypoph... ORPHA:469
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Dehydration, Incr... ORPHA:230
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Familial Thyroid Dyshormonogenesis
Facial edema, Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance, Attention deficit hyperactivity dis... ORPHA:819
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Gl... ORPHA:534
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Depression, Growth delay, Lethargy, Abnormal circulating thyroglobulin level ORPHA:99832
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Dehydration, Hemoglobinuria,... ORPHA:90038
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... ORPHA:556037
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia, Ataxia OMIM:249310
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Weight loss, Joint... ORPHA:465508
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Confusion, Elevated... ORPHA:36234
Meningococcal Meningitis
Lethargy, Renal insufficiency, Elevated circulating C-reactive protein concentration ORPHA:33475
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive, Methylmalonic aciduria OMIM:275350
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia, Ataxia ORPHA:2479
Scrub Typhus
Lethargy, Renal insufficiency ORPHA:83317
Pyruvate Dehydrogenase Deficiency
Growth delay, Intrauterine growth retardation, Lethargy ORPHA:765
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Decreased serum zinc, Failure to thrive, Short stature OMIM:201100
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Glycerol Kinase Deficiency
Increased urinary glycerol, Short stature, Hypertriglyceridemia, Hyperglycerolemia, Small for ges... OMIM:307030
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concentration... ORPHA:36238
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus, Liver abscess ORPHA:69663
Susac Syndrome
Lethargy, Apathy ORPHA:838
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis... ORPHA:79259
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Isolated Complex I Deficiency
Increased serum pyruvate, Proximal tubulopathy, Intrauterine growth retardation, Failure to thriv... ORPHA:2609
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive, Homocystin... ORPHA:395
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Elevated circulating creatinine concentration, Depression, ... ORPHA:247691
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Postnatal growth retardation, Hypercalci... OMIM:227810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl... OMIM:235400
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Harlequin Ichthyosis
Dehydration ORPHA:457
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen OMIM:274150
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Hyperglycinemia OMIM:614299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Insulinoma
Lethargy, Increased body weight ORPHA:97279
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Small for gestational age, Palpebral edema, Conjugated hyperbilirubinemia, Elevated ... OMIM:614866
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
46,Xy Sex Reversal 4
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Ogden Syndrome
Postnatal growth retardation, Lethargy ORPHA:276432
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Lethargy OMIM:604377
Biotinidase Deficiency
Lethargy, Organic aciduria, Hyperammonemia OMIM:253260
Late-Onset Isolated Acth Deficiency