Gene Summary

Name:
ATPase, H+ transporting, lysosomal V0 subunit A4
Synonyms:
Atp6n1b,  V-ATPase alpha 4

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
preweaning lethality, complete penetrance Atp6v0a4tm1(KOMP)Vlcg HOM   Early adult 0.00

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
Bone  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images heterozygote 100% (4 of 4)
Duodenum  Wholemount images heterozygote Ambiguous
Epididymis  Wholemount images heterozygote Not available
Esophagus  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Hindlimb  Wholemount images heterozygote 100% (4 of 4)
Ileum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote Ambiguous
Lung  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Oral epithelium  Wholemount images heterozygote 75% (3 of 4)
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Parotid gland  Wholemount images heterozygote Ambiguous
Penis  Wholemount images heterozygote 50% (2 of 4)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Testis  Wholemount images heterozygote Not available
Thymus  Wholemount images heterozygote 0.0% (0 of 4)
Thyroid gland  Wholemount images heterozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Urinary bladder  Wholemount images heterozygote Ambiguous
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vagina  Wholemount images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Colon N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Ambiguous
Lymph node N/A heterozygote 0.0% (0 of 4)
Main olfactory bulb N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thalamus N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (12 of 12)
Embryo N/A homozygote 100% (4 of 4)
Head N/A heterozygote 0.0% (0 of 12)
Head N/A homozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 12)
Brain N/A homozygote 0.0% (0 of 4)
Ear N/A heterozygote 0.0% (0 of 12)
Ear N/A homozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 12)
Eye N/A homozygote 0.0% (0 of 4)
Footplate N/A heterozygote 0.0% (0 of 12)
Footplate N/A homozygote 0.0% (0 of 4)
Forearm N/A heterozygote 0.0% (0 of 12)
Forearm N/A homozygote 0.0% (0 of 4)
Forebrain N/A heterozygote 0.0% (0 of 12)
Forebrain N/A homozygote 0.0% (0 of 4)
Forelimb N/A heterozygote 0.0% (0 of 12)
Forelimb N/A homozygote 0.0% (0 of 4)
Handplate N/A heterozygote 0.0% (0 of 12)
Handplate N/A homozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 12)
Heart N/A homozygote 0.0% (0 of 4)
Hindbrain N/A heterozygote 0.0% (0 of 12)
Hindbrain N/A homozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote 0.0% (0 of 12)
Hindlimb N/A homozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 12)
Liver N/A homozygote 0.0% (0 of 4)
Lower leg N/A heterozygote 0.0% (0 of 12)
Lower leg N/A homozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 12)
Lung N/A homozygote 0.0% (0 of 4)
Mandibular process N/A heterozygote 0.0% (0 of 12)
Mandibular process N/A homozygote 0.0% (0 of 4)
Maxillary process N/A heterozygote 0.0% (0 of 12)
Maxillary process N/A homozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 12)
Midbrain N/A homozygote 0.0% (0 of 4)
Oral cavity N/A heterozygote 0.0% (0 of 12)
Oral cavity N/A homozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 12)
Skin N/A homozygote 0.0% (0 of 4)
Tail somite N/A heterozygote 0.0% (0 of 12)
Tail somite N/A homozygote 0.0% (0 of 4)
Tail N/A heterozygote 0.0% (0 of 12)
Tail N/A homozygote 0.0% (0 of 4)
Upper arm N/A heterozygote 0.0% (0 of 12)
Upper arm N/A homozygote 0.0% (0 of 4)
Upper leg N/A heterozygote 0.0% (0 of 12)
Upper leg N/A homozygote 0.0% (0 of 4)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
cranium
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

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

116 Images

Embryo LacZ

LacZ images wholemount

82 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Atp6v0a4 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.

The table below shows human diseases associated to Atp6v0a4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Failure to thrive, Bilateral sensorineural hearing impairment, Met... OMIM:602722

The table below shows human diseases predicted to be associated to Atp6v0a4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Failure to thrive, Bilateral sensorineural hearing impairment, Met... OMIM:602722
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Microscopic hematuria, P... OMIM:137950
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis, Acidosis OMIM:204730
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Distal Renal Tubular Acidosis
Hyperchloremic metabolic acidosis, Decreased glomerular filtration rate, Renal potassium wasting,... ORPHA:18
East Syndrome
Renal salt wasting, Metabolic alkalosis, Renal sodium wasting, Hypokalemia, Polydipsia, Salt crav... ORPHA:199343
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Hypokalemic metabolic alkalosi... OMIM:612780
Oxoglutarate Dehydrogenase Deficiency
Metabolic acidosis, Congenital lactic acidosis, Increased serum lactate OMIM:203740
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:602522
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:613090
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Increased serum lactate OMIM:618250
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Metabolic acidosis, Increased serum lactate OMIM:615158
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... ORPHA:2260
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Cystinosis
Renal tubular dysfunction, Hypokalemia, Dehydration, Polydipsia, Failure to thrive, Hypophosphate... ORPHA:213
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Osteopenia, Medullary nephrocalcinosis, Reduc... OMIM:611555
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Dehydration, Small for ges... ORPHA:93101
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyur... OMIM:619468
Infantile Bartter Syndrome With Sensorineural Deafness
Clumsiness, Hyperprostaglandinuria, Chronic kidney disease, Renal salt wasting, Protruding ear, I... ORPHA:89938
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Increased serum lactate, Nephrotic syndrome OMIM:614652
Bartter Syndrome, Type 2, Antenatal
Paresthesia, Hyperprostaglandinuria, Renal potassium wasting, Renal salt wasting, Increased circu... OMIM:241200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Metabolic alkalosis, Hypokalemia, Polydipsia, Cerebral palsy, Epistaxis, Nephrolithias... ORPHA:369929
Gitelman Syndrome
Paralysis, Paresthesia, Hypokalemia, Polydipsia, Failure to thrive, Vertigo, Salt craving, Hypoka... OMIM:263800
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the urinary system, Failure to thrive, Diabetic ketoaci... ORPHA:99886
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Polyphagia, Polydipsia, Polyuria OMIM:222100
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Failure to thrive, Weight loss, Dehydration, Nocturia ORPHA:178029
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Methylmalonic aciduria, Failure to t... ORPHA:289504
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polydipsia, Hypokalemia, Alkalosis, Polyuria OMIM:304900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephr... OMIM:208085
Ring Chromosome 8 Syndrome
Round ear, Hydronephrosis, Abnormality of the ureter, Short nose, Polyhydramnios, Anteverted nares ORPHA:1450
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Renal Tubular Acidosis, Proximal
Renal tubular acidosis, Proximal renal tubular acidosis, Hyperchloremic acidosis OMIM:179830
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Hypokalemia, Nephrocalcinosis, Failure to thrive, Isothenuria,... OMIM:611590
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Metabolic acidosis, Hyponatremia... ORPHA:411634
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium... OMIM:248250
Oculocerebrodental Syndrome
Conductive hearing impairment, Hypercalcemia, Depressed nasal bridge, Nephrocalcinosis, Wide nasa... ORPHA:557003
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Flexion contracture OMIM:619224
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephr... OMIM:613404
Familial Hyperaldosteronism Type Iii
Metabolic alkalosis, Polydipsia, Hypokalemia, Epistaxis, Hypercalciuria, Tinnitus ORPHA:251274
Mitochondrial Complex I Deficiency, Nuclear Type 32
Metabolic acidosis, Increased serum lactate OMIM:618252
Hypocalcemia, Autosomal Dominant 1
Paresthesia, Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis... OMIM:601198
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration, Ketoacidosis, Methylmalonic aciduria OMIM:614265
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased serum lactate OMIM:616209
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Myoclonus, Hearing impairment, Ataxia, Polyuria, Dehydra... OMIM:560000
Bartter Syndrome, Type 1, Antenatal
Paresthesia, Hyperprostaglandinuria, Renal potassium wasting, Renal salt wasting, Increased circu... OMIM:601678
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:266900
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria OMIM:304800
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Failure to thrive, ... ORPHA:320
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Failure to thrive, Low-set, posteriorly rotated ears, Increased serum lactate, Sensori... OMIM:618958
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Acidosis, A... OMIM:134600
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:606996
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephrogenic Diabetes Insipidus
Hypernatremia, Polydipsia, Failure to thrive, Hypernatremic dehydration, Enuresis nocturna, Polyh... ORPHA:223
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperchloremic metabolic ac... ORPHA:411629
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Failure to thrive in infancy, Choreoathetosis, Hearing impairment, Narrow nasal b... ORPHA:85285
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Babinski sign, Depressed nasal bridge, Nephrocalcinosis, Short nose, Renal cyst, Large for gestat... OMIM:615398
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... OMIM:613845
Combined Oxidative Phosphorylation Deficiency 16
Increased serum lactate OMIM:615395
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Metabolic acidosis, Hyperphosphatemia, Increased body weight, Bl... ORPHA:94086
Bardet-Biedl Syndrome 17
Polydipsia, Poor coordination, Renal cyst, Stage 5 chronic kidney disease, Anosmia, Micropenis, O... OMIM:615994
Primary Unilateral Adrenal Hyperplasia
Metabolic alkalosis, Polydipsia, Decreased circulating renin level, Hypokalemia, Increased urinar... ORPHA:231580
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dysphagia, Jerky head movements, Spastic gait, Spastic dy... ORPHA:251282
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Polyhydramnios, Medullary nephrocalcinosis, Increased c... OMIM:300971
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased serum lactate, Hearing impairment, Sensorineural hearing impairment, Ataxia, Abnormal p... OMIM:619196
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis, Hydroureter, Hydronephrosis OMIM:618240
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Failure to thrive, Duplicated collecting system, Sensorineural hearing impairment... OMIM:617093
3-Hydroxyisobutyric Aciduria
Episodic ketoacidosis, Lactic acidosis, Aminoaciduria, Ketoacidosis OMIM:236795
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Conductive hearing impairment, Hydronephrosis ORPHA:2669
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine ORPHA:391457
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Familial Cold Urticaria
Sensorineural hearing impairment, Dysesthesia, Dehydration, Polydipsia ORPHA:47045
Primary Fanconi Renotubular Syndrome
Hyperchloremic metabolic acidosis, Hypophosphatemia, Proximal renal tubular acidosis, Hyperuricos... ORPHA:3337
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... ORPHA:47159
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Stillbirth, Pol... OMIM:241500
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate OMIM:618855
Riboflavin Deficiency
Metabolic acidosis, Dicarboxylic aciduria OMIM:615026
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria OMIM:239199
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration, Renal insufficiency, Hyperammonemia ORPHA:28
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Hypokalemia, Failure to thrive, Weight loss, Hearing impairment, ... OMIM:619377
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Dehydration, Hypokalemic metabolic ... OMIM:607364
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... ORPHA:564178
Liddle Syndrome
Hypokalemia, Renal insufficiency, Nephropathy ORPHA:526
Renal Tubular Acidosis Iii
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Perio... OMIM:267200
Huntington Disease
Clumsiness, Involuntary movements, Clonus, Babinski sign, Rigidity, Abnormal circulating choleste... ORPHA:399
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dehydration, Dicarboxylic aciduria, Elevated circulating acylcarnitin... ORPHA:79159
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Renal insufficiency, Dehydration ORPHA:79312
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Metabolic alkalosis, Paresthesia, Decreased circulating renin level, Hypokalemia, Increased urina... ORPHA:231625
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Episodic ketoacidosis, Lactic acidosis, Increased serum lactate, Ketoacidosis OMIM:615453
Renal Glucosuria
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Posteriorly rotated ears, Spastic paraplegia, Low-set ears, Neurogenic bladder OMIM:617370
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Beta-Ketothiolase Deficiency
Ketoacidosis, Edema, Weight loss, Extrapyramidal dyskinesia, Acidosis, Hyperammonemia, Hyperurice... ORPHA:134
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive, Metabolic acidosis, Renal salt wasting, Dehydration OMIM:264350
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Progressive extrapyramidal movement disorder, Nephrocalcinosis, Choreoathetosis, My... ORPHA:445038
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Hyperprolinemia, Ataxia, EEG abnormality, Hyperglycinuria OMIM:239500
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Proximal tubulop... OMIM:241150
Colchicine Poisoning
Hyponatremia, Hypokalemia, Dehydration, Hypophosphatemia, Abnormality of acid-base homeostasis, H... ORPHA:31824
Macdermot-Winter Syndrome
Hydronephrosis, Macrotia, Posteriorly rotated ears OMIM:247990
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Choanal stenosis, Nephrocalcinosis, Hypophosphatemia, Hearing i... OMIM:156400
Pearson Syndrome
Lacticaciduria, Elevated lactate:pyruvate ratio, Hypophosphatemia, Hearing impairment, Hydrops fe... ORPHA:699
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Choreoathetosis, Dehydration, Paraparesis, Hyperammonemia, Ataxia, Tetraparesis, R... ORPHA:27
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Metabolic ketoacido... OMIM:251000
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Ataxia, Spasticity, Decreased body weight ORPHA:99852
Gitelman Syndrome
Tubulointerstitial nephritis, Paresthesia, Renal potassium wasting, Enuresis, Metabolic alkalosis... ORPHA:358
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Decreased circulating renin level, Metabolic acidosis, Hypercalciuria, P... OMIM:613677
Combined Oxidative Phosphorylation Deficiency 39
Increased serum lactate, Arthrogryposis multiplex congenita, Flexion contracture OMIM:618397
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum lactate OMIM:619062
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acidosis, Acut... ORPHA:173
Refsum Disease, Classic
Abnormal renal physiology, Sensorineural hearing impairment, Ataxia, Elevated levels of phytanic ... OMIM:266500
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Lactic acidosis, Increased serum lactate OMIM:616111
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myoclonus, Increased serum lactate, Sensorineural hearing impairment, Ataxia, Spasticity, Increas... OMIM:545000
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Failure to thrive, Renal tubular ... ORPHA:2088
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Mitochondrial Complex I Deficiency, Nuclear Type 11
Metabolic acidosis, Osteoporosis, Increased serum lactate OMIM:618234
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Ascites, Renal dysplasia, Anasarca, Hypocalcemia, Polyhydramn... OMIM:618183
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis, Increased serum lactate, Lacticaciduria ORPHA:79246
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis, Metabolic acidosis OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis, Metabolic acidosis OMIM:614496
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Orthostatic hypotension, Failure to thrive, Renal salt wasting, Incre... OMIM:610600
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Metabolic acidosis, Dehydratio... OMIM:251120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypospadias, Failure to thrive, Prominent nasal bridge, Low-set ears, Hyperammonemia, Increased s... OMIM:604273
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular acidosis, Hyperchloremic acidosis OMIM:604278
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Increased serum lactate, Tremor, Ataxia, Low-set ears OMIM:618951
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Myopathy, Congenital, Progressive, With Scoliosis
Depressed nasal ridge, Hydronephrosis, Dysphagia, Renal atrophy, Posteriorly rotated ears, Hearin... OMIM:618578
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f... ORPHA:93598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
3-Methylglutaconic aciduria, Lactic acidosis OMIM:614053
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Tinnitus, Hypokalemia ORPHA:403
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency, Hyposmia OMIM:615996
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Osteoporosis, Renal calcium wasting, Osteopenia, Hypercalciuria ORPHA:2197
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Polyhydramnios, Nephrocalcinosis OMIM:615633
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Wide nasal bridge, Polyhydramnios, Nephrocalcinosis OMIM:611087
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin le... OMIM:203400
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Renal tubular acidosis, Periodic hypokalemic paresis, Periodic paralysis, Hypoc... OMIM:179800
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Failure to thrive, Hypop... OMIM:239200
Pyruvate Carboxylase Deficiency
Hypernatremia, Lacticaciduria, Elevated lactate:pyruvate ratio, Hyperammonemia, Metabolic acidosi... ORPHA:3008
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Interictal epileptiform activity, Failure to thrive, Polyhydramnios, Nephrocalcinosis ORPHA:500533
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Cerebral palsy, N... OMIM:615474
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Glycosuria, Metabolic acidosis, Aminoaciduria, Proteinuria OMIM:615605
Ectopic Aldosterone-Producing Tumor
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Epistaxis, Renal cortical ad... ORPHA:231632
Nephronophthisis 1
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:256100
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum lactate OMIM:614055
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Truncal obesity, Obesity, Renal insufficiency OMIM:615986
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Jerky head movements, Depressed nasal bridge, Nephrocalcinosis, Abnormality of the... ORPHA:369837
Ochoa Syndrome
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... ORPHA:2704
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis OMIM:614495
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... OMIM:300554
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Metabolic alkalosis, Hypokalemia, Failure to thrive, Hypochloremia, Polyhydramnios,... OMIM:214700
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, Clonus, Failure to thrive, Hypsarrhythmia, Increased serum lactate, Urinary incont... OMIM:617698
Cystinosis, Nephropathic
Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Failure to thrive in ... OMIM:219800
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Polydipsia, Optic nerve hypoplasia, Sensorineural hearing impairment, Anos... ORPHA:3157
Hydroxykynureninuria
Renal tubular dysfunction, Hearing impairment, Hypertonia, Metabolic acidosis, Aminoaciduria OMIM:236800
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Polyphagia, Myoclonus, Increased blood urea nitrogen, Membr... ORPHA:251004
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Hematuria, Unilateral renal dysplasia, Pro... OMIM:146255
Reticular Dysgenesis
Chronic otitis media, Failure to thrive, Weight loss, Hearing impairment, Dehydration ORPHA:33355
Helix Syndrome
Hypokalemia, Polydipsia, Xerostomia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, R... OMIM:617671
Familial Hyperaldosteronism Type Ii
Metabolic alkalosis, Epistaxis, Tinnitus, Hypokalemia ORPHA:404
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... OMIM:251100
Familial Renal Glucosuria
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration ORPHA:69076
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Absent brainstem auditory responses, Macrotia, Lower limb spast... ORPHA:90321
Propionic Acidemia
Limb hypertonia, Failure to thrive, Hyperglycinemia, Hyperammonemia, Increased level of hippuric ... OMIM:606054
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Dysphagia, Recurrent otitis media, Posteriorly ... OMIM:618494
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Dehydration, Failure to thrive, Hematuria, Weight loss, Nephrolithi... ORPHA:35710
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... ORPHA:93111
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoac... OMIM:616026
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls,... ORPHA:240103
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Orthostatic hypotension, Failure to thrive, Inc... ORPHA:556030
Succinic Acidemia
Lactic acidosis OMIM:600335
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Ataxia, Anosmia, Elevated levels of phytanic acid OMIM:614879
Rabson-Mendenhall Syndrome
Hypokalemia, Long penis, Nephrocalcinosis, Polydipsia, Wide nose, Diabetic ketoacidosis, Macrotia... ORPHA:769
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Abnormal pyramidal sign, Clonus, Ur... ORPHA:99027
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration, Hyperchloremic metabolic acidosis OMIM:610370
Chronic Hiccup
Weight loss, Dehydration, Abnormal eating behavior ORPHA:396
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Dysphagia, Myoglobinuria, Hypernatremia, Elevated circulating creatin... ORPHA:94093
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Intellectual Disability-Strabismus Syndrome
Hypospadias, Prominent nose, Depressed nasal bridge, Failure to thrive, Recurrent otitis media, M... ORPHA:363528
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Hypophosphatemia, Proximal renal tubular acidosis, Stereotypy, Oligosacchar... ORPHA:534
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketoacidosis, Respiratory alkalosis, Increased serum lactate, Metabolic acidosis, Lactic acidosis... OMIM:615751
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements, Vertigo ORPHA:71518
2P21 Microdeletion Syndrome
Depressed nasal bridge, Failure to thrive, Low-set, posteriorly rotated ears, Nephrolithiasis, Cy... ORPHA:163693
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Dysphagia, Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hear... OMIM:617519
D-Glyceric Aciduria
Opisthotonus, Nonketotic hyperglycinemia, Failure to thrive, Myoclonus, Hypsarrhythmia, Spastic t... OMIM:220120
Isolated Glycerol Kinase Deficiency
Metabolic acidosis, Osteoporosis ORPHA:408
Bor Syndrome
Enlarged cochlear aqueduct, Hydronephrosis, Hypoplasia of the cochlea, Facial palsy, Hearing impa... ORPHA:107
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Liddle Syndrome 1
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Hypokalemic alkalosis, Renal... OMIM:177200
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Macrotia, Posteriorly rotated ears, Prominent nasal... OMIM:609425
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Clonus, Failure to thrive, Slender build, Hypsarrhythmia, Increased serum lactate,... ORPHA:505216
Combined Oxidative Phosphorylation Deficiency 8
Lactic acidosis, Increased serum lactate OMIM:614096
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hearing impairment, Micropenis, Anosmia, Unilateral renal agenesis OMIM:244200
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Hearing impairment ORPHA:195
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Jerky head movements, Frequent falls, Dysmetria, Chorea, Abnor... ORPHA:157941
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Failure to thrive, Abnormality of extrapyramidal motor function, Increased serum l... OMIM:614739
8P23.1 Duplication Syndrome
Wide nose, Hydronephrosis, Hearing impairment ORPHA:251076
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Edema, Nephrolithiasis, Abdominal obesity, Alkalosis, Obesity OMIM:219090
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Myoclonic spasms, Pericardial effusion, Nephrocalcinosis, Abnormal renal res... ORPHA:73224
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... OMIM:191800
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Lactic acidosis, Organic aciduria OMIM:617184
Nephronophthisis 4
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:606966
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Paresthesia, Hypokalemia, Cerebral palsy, Elevated circulating creati... ORPHA:682
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasi... ORPHA:416
3-Hydroxy-3-Methylglutaric Aciduria
Spastic hemiparesis, Myoclonus, Edema, Hypsarrhythmia, Weight loss, Hyperammonemia, Hyperuricemia... ORPHA:20
Combined Oxidative Phosphorylation Defect Type 27
Involuntary movements, EEG with periodic lateralized epileptiform discharges, Nonimmune hydrops f... ORPHA:477774
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Lactic acidosis, Sensorineural hearing impairment, Ataxia, Aminoaciduria OMIM:616084
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Tyrosinemia, Type I
Renal Fanconi syndrome, Hypophosphatemic rickets, Ascites, Nephrocalcinosis, Failure to thrive, H... OMIM:276700
Joubert Syndrome 35
Hydronephrosis, Depressed nasal bridge, Recurrent urinary tract infections, Multicystic kidney dy... OMIM:618161
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... ORPHA:567548
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Scorpion Envenomation
Paresthesia, Hypokalemia, Respiratory alkalosis, Edema, Myoclonus, Abnormality of acid-base homeo... ORPHA:466677
Mitochondrial Complex I Deficiency, Nuclear Type 12
Increased serum lactate OMIM:301020
Combined Oxidative Phosphorylation Deficiency 14
Lactic acidosis, Myoclonus, Increased serum lactate, Hearing impairment, EEG abnormality, Aminoac... OMIM:614946
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Optic atrophy, Progressive spasticity, Babinski sign, Spastic/hyperactive bladder, Im... ORPHA:137898
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Increased serum lactate, Hearing impairment, Tremor, Progressive cerebellar ataxia, Ab... ORPHA:139485
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Metabolic acidosis, Lactic acidosis, Increased serum lactate ORPHA:91130
Nephronophthisis 3
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:604387
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Optic atrophy, Failure to thrive, Elevated circulating acylcarnitine conce... ORPHA:26792
6P22 Microdeletion Syndrome
Low-set ears, Hydronephrosis, Overfolded helix, Hearing impairment ORPHA:251046
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... OMIM:248190
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... OMIM:251110
Hsd10 Disease, Infantile Type
Optic atrophy, Dysphagia, Choreoathetosis, Abnormal concentration of acylcarnitine in the urine, ... ORPHA:391428
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Failure to thrive in infancy, Low-set, posteriorly rotated ears, Wid... OMIM:611209
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Methylmalonic acid... ORPHA:79282
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Liddle Syndrome 3
Metabolic alkalosis, Hypokalemia OMIM:618126
Mitochondrial Complex I Deficiency, Nuclear Type 13
Metabolic acidosis OMIM:618235
Wolcott-Rallison Syndrome
Hyponatremia, Ketoacidosis, Ascites, Dehydration, Hyperbilirubinemia, Hyperammonemia, Hypoalbumin... ORPHA:1667
Image Syndrome
Hypospadias, Low-set ears, Hydronephrosis, Depressed nasal bridge ORPHA:85173
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Edema, Dehydration, Failure to thrive OMIM:616069
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration, Dehydration OMIM:143860
3-Methylglutaconic Aciduria, Type Viii
Increased serum lactate, Sensorineural hearing impairment, Tremor, Hypertonia, 3-Methylglutaconic... OMIM:617248
Developmental And Epileptic Encephalopathy 53
Elevated circulating creatine kinase concentration, Increased serum lactate, Hypsarrhythmia, Spas... OMIM:617389
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Sensorineural hearing impairment, Metabolic acidosis, Hyperalaninemia ORPHA:2597
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis, Hypokalemia OMIM:613345
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... ORPHA:157215
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema, Posteriorly rotated ears, Spastic tetraplegia, Increased serum lactate, Abnormal ... OMIM:611719
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity, Increased serum lactate, Tremor, Ataxia, Incoordination, Abnormal pyramid... OMIM:614947
Kufor-Rakeb Syndrome
Babinski sign, Dysphagia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Pa... OMIM:606693
Marcus-Gunn Syndrome
Nephrolithiasis, Abnormal fifth cranial nerve morphology, Abnormality of the sense of smell, Choa... ORPHA:91412
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death... OMIM:619003
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Short nose, Speech apraxia, Stereotypy, Enuresis, ... OMIM:613670
Parathyroid Carcinoma
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Weight loss, Renal cyst, Nephrolithiasis,... ORPHA:143
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Increased serum lactate, ... OMIM:617713
Xq28 (MECP2) duplication
Progressive spasticity, Dysphagia, Depressed nasal bridge, Failure to thrive, Macrotia, Stereotyp... DECIPHER:45
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Chorea, Myoclonus, Hyperglycinemia, Hearing impairment, Increased cir... ORPHA:941
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... OMIM:606995
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Positive Romberg sig... OMIM:601152
Glycogen Storage Disease 0, Liver
Increased serum lactate OMIM:240600
Leigh Syndrome With Leukodystrophy
Optic atrophy, Failure to thrive, Increased serum lactate, Hearing impairment, Progressive cerebe... ORPHA:255241
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Wolfram Syndrome
Optic atrophy, Polydipsia, Abnormality of the urinary system, Dysuria, Sensorineural hearing impa... ORPHA:3463
Lactase Deficiency, Congenital
Metabolic acidosis, Dehydration OMIM:223000
Refsum Disease
Sensorineural hearing impairment, Ataxia, Abnormal pyramidal sign, Anosmia, Renal insufficiency, ... ORPHA:773
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Teratoma, Pineal
Polyuria, Polydipsia, Hemiparesis OMIM:273120
Microvillus Inclusion Disease
Metabolic acidosis, Abnormal renal physiology, Dehydration, Nephrocalcinosis ORPHA:2290
Nephronophthisis 11
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... OMIM:613550
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Rhinitis, Elevated circulating creatinine concentration, Vertigo, Increa... ORPHA:230
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Impaired pain sensation, Abnormality of the urinary ... OMIM:182290
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Failure to thrive, Weight loss, Glycosuria, Hear... ORPHA:99885
Hypotonia-Cystinuria Syndrome
Depressed nasal bridge, Polyphagia, Failure to thrive, Facial palsy, Posteriorly rotated ears, Ma... OMIM:606407
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Metabolic acidosis, Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Alpha-Methylacetoacetic Aciduria
Dehydration, Episodic ketoacidosis OMIM:203750
Isovaleric Acidemia
Metabolic acidosis, Dehydration, Hyperglycinuria, Ketoacidosis OMIM:243500
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic disc pallor, Dysmetria, Failure to thrive, Increased serum lactate, Hearing impairment, Ata... OMIM:617954
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612926
Panhypophysitis
Hyponatremia, Polydipsia, Orthostatic hypotension, Sensorineural hearing impairment, Hyposthenuria ORPHA:95513
Drug-Induced Lupus Erythematosus
Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria, Increased bl... ORPHA:231111
Mercury Poisoning
Tremor, Acute kidney injury, Hypokalemia ORPHA:330021
Lamellar Ichthyosis
Chronic otitis media, Abnormal helix morphology, Renal insufficiency, Dehydration ORPHA:313
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Vestibular dysfunction, Abnormality of somatosensory evoked potenti... ORPHA:52368
Pyruvate Dehydrogenase E1-Alpha Deficiency
Severe lactic acidosis, Small for gestational age, Choreoathetosis, Flared nostrils, Chronic lact... OMIM:312170
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Limb hypertonia, Choreoathetosis, Oculomotor apraxia,... OMIM:617595
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hearing impairment, Spasticity, 3-Methylglutaconic aciduria, Lactic acidosis ORPHA:67048
Autosomal Dominant Hypocalcemia
Optic atrophy, Paresthesia, Nephrocalcinosis, Cortical myoclonus, Hypomagnesemia, Hypocalcemia, H... ORPHA:428
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Sensorineural hearing impairment, Dysphagia, Increased serum lactate, Elevated circulating creati... OMIM:617070
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Metabolic acidosis, Glycosuria OMIM:606824
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Dehydration OMIM:143500
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Recurrent upper and lower ... ORPHA:171876
Whipple Disease
Hyponatremia, Cachexia, Polydipsia, Myoclonus, Ataxia, Abnormal pyramidal sign, Pedal edema ORPHA:3452
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Hyperthreoninemia, Hyperthreoninuria, Eye poking OMIM:204000
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Ketoacidosis, Elevated lactate:pyruvate ratio, Increased serum lact... OMIM:614582
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Increased serum lactate, Hemiparesis, Hyperalaninemia, Spasticity, Moderate sensorineu... OMIM:251950
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Broad nasal tip, Failure to thrive, Recurrent otitis media, Short nose, Decreas... ORPHA:391372
Huntington Disease-Like 3
Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, Extrapyramidal dys... ORPHA:157946
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Lactic acidosis, Aminoaciduria, G... OMIM:612075
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... ORPHA:99880
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Depressed nasal bridge, P... OMIM:231680
Thyrotoxic Periodic Paralysis
Paralysis, Hyperkalemia, Episodic hypokalemia, Urinary retention, Weight loss, Respiratory paraly... ORPHA:79102
Adult Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Acropar... ORPHA:206448
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Failure to thrive, Metabolic acidosis, Increased circulating renin le... OMIM:177735
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Craniosynostosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux OMIM:618265
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Hypertonia,... OMIM:179613
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Depressed nasal ridge, Ascites, Polydipsia, Stage 5 chronic kidney disease, Recurre... ORPHA:731
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency, Increased serum lactate OMIM:612933
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Acidosis OMIM:619406
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... OMIM:211900
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets OMIM:613312
Baker-Gordon Syndrome
Involuntary movements, Prominent nasal tip, Choreoathetosis, Short nose, Stereotypy, Ataxia, Hype... OMIM:618218
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Choanal stenosis, Facial palsy, Micropenis, Microtia, Atresia of t... OMIM:147770
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Apnea, Central Sleep
Urinary incontinence, Lactic acidosis OMIM:207720
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Sensorineural hearing impairment, Hydroureter, Abnormal autonomic ... OMIM:598500
Apparent Mineralocorticoid Excess
Metabolic alkalosis, Decreased circulating renin level, Small for gestational age, Failure to thr... OMIM:218030
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased serum lactate, Spasticity, Hearing impairment OMIM:616277
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Elevated circulating creatine kinase concentration, Lactic acidosis, Hearing imp... OMIM:609560
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Anteverted ears, Poor coordination, Abnormality of pain sensation, Macrotia, Abnorma... ORPHA:544254
Jeavons Syndrome
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... ORPHA:139431
Wolfram Syndrome 1
Optic atrophy, Hydronephrosis, Dysphagia, Sensorineural hearing impairment, Tremor, Ataxia, Hydro... OMIM:222300
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Kallmann Syndrome
Renal agenesis, Paraplegia, Sensorineural hearing impairment, Tremor, Micropenis, Ataxia, Anosmia... ORPHA:478
Hereditary Xanthinuria
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... ORPHA:3467
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Failure to thrive, Increased serum lactate, Increased urine alpha-ketoglutara... ORPHA:2394
Adrenocortical Carcinoma
Increased urinary cortisol level, Hypokalemia, Abnormality of urine homeostasis, Weight loss, Inc... ORPHA:1501
Joubert Syndrome 37
Hydronephrosis, Obesity, Wide nose, Posteriorly rotated ears, Wide nasal bridge, Oculomotor aprax... OMIM:619185
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia, Failure to thrive, Tremor, Oligohydramnios, Hyperkinetic movements ORPHA:525731
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Impaired pain sensation, Hand tremor, Optic nerve hypoplasi... ORPHA:101085
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia, Hypokalemia, Xerostomia, Hypomagnesemia, Hypocalcemia OMIM:175500
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Conductive hearing impairment, Depressed nasal bridge, Nephrocalcinosis, Renal dysplasia, Overfol... OMIM:300990
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Bulbous nose, Periodic hypokalemic paresis, Periodic paralysis, Low-set ears OMIM:170390
Erdheim-Chester Disease
Hydronephrosis, Polydipsia, Weight loss, Dysuria, Ataxia, Pleural effusion, Renal insufficiency, ... ORPHA:35687
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Broad nasal tip, Spasticity, Stereotypy OMIM:617393
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased serum lactate OMIM:618239
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progressive sensorineural... OMIM:125250
Leprechaunism
Protruding ear, Long penis, Nephrocalcinosis, Hypokalemia, Failure to thrive, Wide nose, Low-set ... ORPHA:508
Hypokalemic Periodic Paralysis
Paralysis, Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine kinase, Periodic... ORPHA:681
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Small for gestational age, Congenital sensorineural hearing impairment, Failure to t... OMIM:619147
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Glycerol Kinase Deficiency
Ketoacidosis, Small for gestational age, Increased urinary glycerol, Hypertriglyceridemia, Metabo... OMIM:307030
Potocki-Lupski Syndrome
Prominent nasal tip, Small for gestational age, Hypocholesterolemia, Failure to thrive, Stereotyp... OMIM:610883
Superficial Siderosis
Babinski sign, Impaired temperature sensation, Paresthesia, Frequent falls, Dysmetria, Impaired p... ORPHA:247245
Episodic Ataxia Type 4
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination