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
impaired glucose tolerance Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 9.39×10-05
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
increased lean body mass Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 2.15×10-06
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
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.16×10-32
increased circulating amylase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 3.03×10-07
decreased locomotor activity Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 3.47×10-15
increased circulating alkaline phosphatase level Aqp1tm1b(EUCOMM)Wtsi HOM Late adult 4.72×10-14
decreased bone mineral content Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 4.45×10-06
increased neutrophil cell number Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 1.43×10-05
decreased grip strength Aqp1tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-09
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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
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.

Adult LacZ

LacZ Images Wholemount

24 Images

Echo

M-Mode Images

60 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

Echo

M-Mode Images

32 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 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
Familial Renal Glucosuria
Recurrent urinary tract infections, Moderate postnatal growth retardation, Dehydration, Glycosuri... ORPHA:69076
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Dehydration, Failure to th... OMIM:143880
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Hyperammonemia, Failure to thrive, Renal insufficiency, Lethargy ORPHA:28
Central Diabetes Insipidus
Depression, Dehydration, Hyponatremia, Failure to thrive, Nocturia, Weight loss, Lethargy ORPHA:178029
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Growth delay, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinuria, Lethargy OMIM:238750
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Chronic Hiccup
Depression, Dehydration, Weight loss ORPHA:396
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Dehydration OMIM:601410
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Growth delay, Failure to thrive, Lethargy OMIM:274270
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Dehydration, Growth delay, Failure to thrive, Nephrocalcinosis, Dist... OMIM:602722
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Alpha-Methylacetoacetic Aciduria
Dehydration, Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Attention def... OMIM:620211
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia, Diminished ability to concentrate OMIM:301033
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, Hyponatremia, F... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, Hyponatremia, F... OMIM:203400
Methylmalonyl-Coa Epimerase Deficiency
Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Dehydration, Failur... OMIM:251120
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... ORPHA:79159
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Dehydration, Failure to thrive, Intrauterine growth retardation, Abnor... ORPHA:99886
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Small for gestational age, Vesicoureteral ref... ORPHA:97362
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Failure to thrive, Increased level of methylsuccinic acid in urine, Intrau... ORPHA:26792
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Dehydration, Increased circulating renin level, Hypon... ORPHA:556030
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia OMIM:214700
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Methylmalonic acidemia, Dehydration, Failure to thrive, Dicarboxylic acide... ORPHA:289504
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Glutaric Acidemia Type 3
Glutaric aciduria, Failure to thrive, Abnormal circulating enzyme concentration, Elevated circula... ORPHA:35706
Posterior Urethral Valve
Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Pyelonephritis, R... ORPHA:93110
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Cognitive impair... OMIM:208920
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Short stature, Glycosuria, Failure to thrive, Lethargy, Ketonuria ORPHA:2089
Glucose-Galactose Malabsorption
Hematuria, Dehydration, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight ... ORPHA:35710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Hyperammonemia, Failure to thrive, Renal insufficiency, Lethargy ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Anemia, Hemophagocyt... OMIM:267700
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy ORPHA:79283
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Isovaleric Acidemia
Elevated urinary isovalerylglycine level, Hyperglycinuria, Dehydration, Lethargy OMIM:243500
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Depression, Memory impairment, Hyperostosis frontalis interna, Osteoporosis, Cogni... ORPHA:77296
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabete... OMIM:612526
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy ORPHA:254857
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Dehydration, Hyponatremia, Failure to thrive OMIM:264350
Saccharopinuria
Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Cognitive impairment, Ga... ORPHA:3124
Cystinosis
Delayed puberty, Hypokalemia, Nephropathy, Dehydration, Short stature, Failure to thrive, Protein... ORPHA:213
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Lethargy OMIM:605899
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Lethargy, Intrauterine growth retardation OMIM:617065
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death, Dehydration OMIM:602199
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive, Hypertonic dehydration OMIM:606824
Multiple Myeloma
Osteopenia, Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinin... ORPHA:29073
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy ORPHA:622
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Failure to thrive, Hypomethioninemia... OMIM:236270
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hypokalemia, Short stature, Failure to thrive, Nephrocalcinosis, Distal renal tubula... OMIM:611590
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration OMIM:143860
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentration, Aminoacidur... OMIM:619386
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia OMIM:613090
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Dehydration, Abnormal circulating polysaccharide conc... ORPHA:103910
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Propionic Acidemia
Increased level of hippuric acid in urine, Hyperglycinuria, Dehydration, Short stature, Hyperammo... OMIM:606054
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Dehydration, Elevated circu... OMIM:212140
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failu... OMIM:601678
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Dehydration, Hyperammonemia, Failure to thrive, Stage 5 ... OMIM:251000
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminem... OMIM:616267
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Lethargy ORPHA:26
Combined Oxidative Phosphorylation Deficiency 2
Edema, Neonatal death, Lethargy, Small for gestational age OMIM:610498
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the blad... ORPHA:223
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Renal insufficiency, Lethargy, Dehydration ORPHA:27
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy OMIM:615026
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Hypertonic dehydration, Short stature, Failure to thrive, Hypernatremia, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Hypertonic dehydration, Short stature, Failure to thrive, Hypernatremia, Megacystis OMIM:304800
Oligomeganephronia
Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ... ORPHA:2260
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... OMIM:620366
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Short stature, H... OMIM:618120
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Incr... OMIM:603553
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum cre... OMIM:300539
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce... OMIM:277460
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Methylmalonic acidemia, Elevated u... OMIM:251100
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Polyhydramnios, Severe failure to thrive, Hypokalemia, H... ORPHA:89938
Dihydropyrimidinase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil level, Elevated... OMIM:222748
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi... OMIM:251110
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Weight loss ORPHA:30925
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Pyruvate Dehydrogenase E3 Deficiency
Decreased circulating carnitine concentration, Hyperisoleucinemia, Hyperammonemia, Elevated circu... ORPHA:2394
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failu... OMIM:241200
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Dehydration, Hyponatremia, Failure to thrive OMIM:300200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Renal tubular acidosis, Dehydration, Oligohydramnios, Failure to thriv... OMIM:208085
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thr... ORPHA:427
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Renal Tubular Acidosis, Proximal
Rickets, Elevated circulating creatinine concentration, Osteomalacia OMIM:179830
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Dehydration, Growth delay, Hyperphosphaturia, Glyc... ORPHA:411629
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Hyperhomocystinemia, Short stature, Failure to thrive, Growth delay, Hypomethioni... OMIM:250940
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hyperammonemia, Renal insufficiency, Lethargy, Renal tubular dysfunction ORPHA:289916
Severe Canavan Disease
Elevated urine N-acetylaspartic acid level, Lethargy ORPHA:314911
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hepatosplenomegaly,... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Dehydration OMIM:618958
2-Methylbutyryl-Coa Dehydrogenase Deficiency
2-ethylhydracylic aciduria, Lethargy OMIM:610006
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con... OMIM:179800
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Multiple Mitochondrial Dysfunctions Syndrome 1
Hyperglycinuria, Alpha-aminoadipic aciduria, Failure to thrive, Neonatal death, Increased urine a... OMIM:605711
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Dehydration, Ascites, Decreased body weight, Short stature, Hyperammonemia, H... ORPHA:1667
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Elevated urine acetoacetic acid level, Low plasma citrulline, Hyperalaninemia, Elevate... OMIM:615751
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss ORPHA:33355
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy, Failure to thrive, Dehydration OMIM:560000
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary biopterin level, Hyperphenylalaninemia, Decreased urinary neopterin level, Elev... OMIM:233910
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Failure to thrive, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylc... OMIM:210200
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Dehydration, Proportionate short stature, Increased circulating renin level, Hypona... ORPHA:171876
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, Hyperuricemia, Decreased circulatin... OMIM:246450
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Cerebral edema, Low plasma citr... OMIM:237300
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration, Growth delay, Hyperammonemia, Failure to thrive, Ketonuria OMIM:615453
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Dehydration, Increased circulating renin level, Hyponatremia, Failure to thrive OMIM:177735
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Elevated circulating ... ORPHA:64753
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Holocarboxylase Synthetase Deficiency
Organic aciduria, Growth delay, Hyperammonemia, Weight loss, Lethargy ORPHA:79242
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased circulating carnitine concentration, Hyperglycinuria, Elevated urinary 7-hydroxyoctanoi... OMIM:201450
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Maple Syrup Urine Disease, Type Ia
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... OMIM:248600
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia, Lethargy ORPHA:99828
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration OMIM:617872
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Growth delay, Failure to thrive, Ele... OMIM:614857
Cog4-Cdg
Irritability, Thrombocytopenia, Hepatosplenomegaly, Ataxia, Hypercholesterolemia ORPHA:263501
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive, Lethargy OMIM:250620
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Small for gestational age OMIM:616733
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Cholera
Acute kidney injury, Hypokalemia, Hypocalcemia, Dehydration, Hyponatremia, Abnormality of renal e... ORPHA:173
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia OMIM:602522
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Dehydration, Increased circulating renin level OMIM:620126
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Hypophosphatemia, Stage 5 chronic kidney disease, Red... OMIM:219800
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Failure to t... ORPHA:231144
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Dehydration, Increased circulating renin level OMIM:620125
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Polyhydramnios, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death,... OMIM:614922
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Lethargy OMIM:613561
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperammonemi... OMIM:609015
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Dehydration, Renal cys... OMIM:263200
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Bone cyst, Increased C-peptide level, Insulin resistance,... ORPHA:528
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Fai... ORPHA:2169
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Lamellar Ichthyosis
Short stature, Renal insufficiency, Dehydration ORPHA:313
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Cachexia, Elevated circulating creatine kinase concentration, Hyperammonem... ORPHA:42
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Lethargy, Abnormal... ORPHA:79230
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Hyperammonemia, Failure to thrive, Lethargy, Homocitrullinuria OMIM:238970
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Citrullinemia, Classic
Elevated plasma citrulline, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Failur... OMIM:215700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:617056
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Cognitive impairment, Ataxi... ORPHA:167
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Polyhydramnios, Hypertyrosinemia, Hyperbilirubinemia, Ascites, Failure to thrive, 4-Hydroxyphenyl... OMIM:617156
Fanconi Renotubular Syndrome 3
Rickets, Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Osteolytic defects of the distal phalanges of the hand, A... ORPHA:2457
Netherton Syndrome
Ectopic kidney, Dehydration, Short stature, Hydronephrosis, Aminoaciduria ORPHA:634
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hyperprolinemia, Hyperalaninemia, Lethargy OMIM:619064
Beta-Ketothiolase Deficiency
Hyperuricemia, Dehydration, Hyperammonemia, Weight loss, Edema, Apathy, Ketonuria ORPHA:134
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Abnormality of the upper urinary tract, Glycosuria, Failure to thrive, Moderate albu... ORPHA:99885
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia, Dehydration, Failure to thrive, Proteinuria... OMIM:619377
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Hyperglycinuria, Organic aciduria, Hyperleucinemia... OMIM:210210
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... OMIM:615812
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concent... ORPHA:79284
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Increased serum pyruvate, Hyperalaninemia, Lethargy OMIM:312170
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Increased body weight, Glycosuria, Renal Fan... ORPHA:263455
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Secondary Short Bowel Syndrome
Dehydration, Growth delay, Failure to thrive, Weight loss, Abnormal blood ion concentration, Low ... ORPHA:95427
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Abnormal cir... ORPHA:71212
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Hyperalaninemia, Short stature, Renal hypoplasia, Hyperammonemia, Le... ORPHA:254913
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Increased C-peptide level, Decreased circulating free fatty acid level... ORPHA:324575
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy, Neonatal hyperbilirubinemia ORPHA:95717
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hydrops fetalis, Hyperhomocyst... ORPHA:79282
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased circulating iron concentration, Lethargy OMIM:602390
3-Hydroxy-3-Methylglutaric Aciduria
Hyperuricemia, Dehydration, Hyperammonemia, 3-Methylglutaric aciduria, Weight loss, Edema, Apathy... ORPHA:20
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Leukocytosis, Cognitive impairment, Hyperglycemia, Progressive neurologic dete... ORPHA:90065
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Dehydration, Small for gestational age OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Failure to thrive, Lethargy OMIM:618226
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia OMIM:616222
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Cerebral edema,... OMIM:311250
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Renal tubular acidosis, Transient hyperlipidemia, Elevated circulating cre... OMIM:255120
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Small for gestational age, Hypercalciuria, Hyperbilirubinemia, Dehydration, Rena... OMIM:557000
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hypoglutaminemia, Hyperglutamatemia, Increased serum... ORPHA:3008
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy OMIM:246900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hyperhomocystinemia, Cystathioninuria, Homocystinuria, Cystathioninemia, ... OMIM:277380
Argininosuccinic Aciduria
Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia int... OMIM:207900
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy OMIM:618228
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Increased C-peptide level, Lethargy, Decreased circulating free fatty ... ORPHA:276556
Idiopathic Intracranial Hypertension
Depression, Obesity, Lethargy ORPHA:238624
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Oliguria, Dehydration, Hyponatremia, Hypomagnesemia, Hypophosphatemia,... ORPHA:31824
Cirrhosis, Familial
Increased level of L-fucose in urine, Increased level of propylene glycol in blood, Lethargy, Asc... OMIM:215600
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Lethargy ORPHA:276608
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Lethargy OMIM:611523
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Confusion ORPHA:54057
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Bone-marrow f... OMIM:278000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy OMIM:618225
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Congestive heart failure, Prolonged QT interval, Hypospadias, Nonco... OMIM:610198
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Increased C-peptide level, Lethargy, Decreased circulating free fatty ... ORPHA:276575
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Lethargy, Renal tubular acidosis ORPHA:156
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Fasting hypoglycemia, Ketotic hypoglycemia, Elevated circulating cr... ORPHA:79240
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Hyperhomocysti... OMIM:277400
Citrullinemia Type I
Hyperammonemia, Elevated plasma citrulline, Failure to thrive, Lethargy ORPHA:247525
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperalaninemia, Hyperammonemia, Acute hyperammonemia, Failure to thrive, Hyperglutaminemia, Leth... ORPHA:927
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Failure to thrive, Low plasma citrulline, Hyp... OMIM:237310
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Penoscrotal hypospadias, Hypospadias, Dehydration, Increased ci... ORPHA:90791
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia, Anemia ORPHA:2315
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Hypomethioninemia, Methylmalonic aci... OMIM:277410
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy OMIM:274400
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly OMIM:608104
Congenital Disorder Of Glycosylation, Type Ig
Polyhydramnios, Rhizomelia, Hypospadias, Small for gestational age, Hypocalcemia, Failure to thri... OMIM:607143
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Polyhydramnios, Rhizomelia, Dehydration, Growth delay, Intrauterine ... OMIM:616271
Enteric Anendocrinosis
Dehydration ORPHA:83620
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Decreased circulating carnitine concentrat... OMIM:201475
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Increased C-peptide level, Lethargy ORPHA:276580
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Dehydration, Nephrocalcinosis, Elevate... OMIM:259900
Leptospirosis
Thrombocytopenia, Hyperproteinemia ORPHA:509
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Nephronophthisis 9
Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro... OMIM:613824
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Cognitive impairment,... ORPHA:470
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Lethargy ORPHA:49827
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Lethargy OMIM:617105
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Abnormal circulating thyroglobulin concentration, Growth delay, Overweight, Lethargy ORPHA:99832
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Fasting hypoglycemia, Abnormal erythrocyte enzyme concentration or ... ORPHA:264580
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Failure to thrive, Hyponatremia, Weight loss ORPHA:90794
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonyl... OMIM:253270
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
Familial Cold Urticaria
Dehydration ORPHA:47045
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphyseal... ORPHA:90674
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Lethargy, Ethylmalonic aciduria OMIM:201470
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Cachexia, Dehydration, Ascites, Hyponatre... ORPHA:275761
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Spleno... OMIM:615895
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Classic Galactosemia
Depression, Ascites, Lethargy, Delayed puberty ORPHA:79239
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,... OMIM:229600
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Failure to thrive, Elevated circulating acylcarnitine concentration, Abnormal ci... OMIM:615838
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Hyperinsulinemia, Osteolytic defects of the distal phalanges of the hand,... OMIM:248370
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Delayed puberty, Urogenital sinus anomaly, Abnormal circulating... ORPHA:168558
Central Neurocytoma
Depression, Lethargy ORPHA:73256
Pearson Syndrome
Postnatal growth retardation, Hydrops fetalis, Hypokalemia, Hypocalcemia, Corneal stromal edema, ... ORPHA:699
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Hyperammonemia, Lethargy OMIM:600649
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated creatine kinase af... ORPHA:159
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Delayed puberty, Urogenital sinus anomaly, Abnormal circulating... ORPHA:289548
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Pseudo-Torch Syndrome 2
Ascites, Pleural effusion, Lethargy, Abnormal renal corticomedullary differentiation OMIM:617397
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Shigellosis
Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Dehydration, Hyponatremia, Abnormal b... ORPHA:810
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Lethargy OMIM:229700
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Growth delay, Hypophosphatemia, Chronic kidney disease, Renal ins... ORPHA:469
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Increased circulating renin level, Hyponatremia, Fail... ORPHA:556037
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Anuria, Dehydration, Unconjugated hyperbilirubinemia, Hyponatre... ORPHA:90038
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturia, Elevated c... ORPHA:230
Smith-Magenis Syndrome
Hypertriglyceridemia, Attention deficit hyperactivity disorder, Hypercholesterolemia, Gait distur... ORPHA:819
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Nephrocalcinosis, Hypophosphatemia, Multiple renal cysts, Depression, Nephrolith... ORPHA:534
Familial Thyroid Dyshormonogenesis
Facial edema, Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubin... ORPHA:95716
Necrotizing Enterocolitis
Small for gestational age, Ascites, Hyponatremia, Edema, Lethargy ORPHA:391673
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Scrub Typhus
Renal insufficiency, Lethargy ORPHA:83317
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Confusion, Leukocytosis, Neutrophilia, Leu... ORPHA:36238
Meningococcal Meningitis
Renal insufficiency, Lethargy, Elevated circulating C-reactive protein concentration ORPHA:33475
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Arthritis, Confusion, Elevated circulating creatine kinase concentration, Celluliti... ORPHA:36234
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Joint swelling, Weight loss, Elevated transferrin saturation, In... ORPHA:465508
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Failure to thrive, Lethargy, Decreased serum zinc OMIM:201100
Pyruvate Dehydrogenase Deficiency
Intrauterine growth retardation, Lethargy, Growth delay ORPHA:765
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Hyperammonemia, Dicarboxylic aciduria, Lethargy OMIM:212138
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age ORPHA:275555
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia, Ataxia ORPHA:2479
Susac Syndrome
Apathy, Lethargy ORPHA:838
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Hypercholesterolemia ORPHA:69663
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hyperglycemia, T... OMIM:151660
Transcobalamin Ii Deficiency
Failure to thrive, Methylmalonic aciduria, Lethargy, Hyperhomocystinemia OMIM:275350
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Isolated Complex I Deficiency
Proximal tubulopathy, Increased serum pyruvate, Failure to thrive, Intrauterine growth retardatio... ORPHA:2609
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Inguinal hernia OMIM:614376
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Osteopenia, Hypoglycemic seizures, Anemia, Hyperuricemia, Chro... ORPHA:79259
Infantile Liver Failure Syndrome 2
Hyperammonemia, Lethargy OMIM:616483
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Irritability, Memory impairment, Depression, Cognitive impairment, Progressive neurologic deterio... ORPHA:247691
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia, Cog... OMIM:235400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Fanconi-Bickel Syndrome
Postnatal growth retardation, Increased serum bile acid concentration, Hypokalemia, Generalized a... OMIM:227810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Hyperhomocystinemia, Cystathioninemia, Failure to thrive, Hypomethioninemia, Leth... ORPHA:395
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia, Ataxia OMIM:249310
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Harlequin Ichthyosis
Dehydration ORPHA:457
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
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
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Familial Isolated Restrictive Cardiomyopathy
Postnatal growth retardation, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgi...