Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
urate oxidase
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Uox 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 Uox by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne... ORPHA:411536
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ... ORPHA:411543
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Nephronophthisis-Like Nephropathy 2
Polydipsia, Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney... OMIM:619468
Hyperuricemia, Hprt-Related
Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria, Renal insufficiency OMIM:300323
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Renal insufficiency OMIM:300661
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Gout, Hyperuricemia, Nephropathy, Chronic kidney ... OMIM:617056
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:266900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:606996
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholest... OMIM:610947
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi... ORPHA:79233
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... ORPHA:93101
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Hyperuricemia ORPHA:510
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... OMIM:248250
Nephronophthisis 1
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:256100
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria, Hypernatremia OMIM:125800
Lesch-Nyhan Syndrome
Dysphagia, Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria OMIM:300322
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Megacystis, Polyuria, Hypernatremia OMIM:304800
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration, Red urine OMIM:254960
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia OMIM:222100
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnorm... ORPHA:261222
Blue Diaper Syndrome
Hypercalcemia, Blue urine, Hyperphosphatemia, Nephrocalcinosis ORPHA:94086
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Polyuria, Hypokalemia OMIM:304900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Renal insufficiency, Abnorma... OMIM:615993
Nephronophthisis 4
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:606966
Renal Glucosuria
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... ORPHA:2260
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Hereditary Xanthinuria
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... ORPHA:3467
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Increased serum pyruvate, Hyperalaninemia OMIM:617668
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine OMIM:232600
Hereditary Coproporphyria
Hyponatremia, Porphyrinuria, Dark urine, Increased urinary porphobilinogen, Nephropathy, Elevated... ORPHA:79273
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... OMIM:615703
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Nephronophthisis 3
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:604387
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... ORPHA:47159
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... OMIM:613845
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Ochoa Syndrome
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... ORPHA:2704
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... OMIM:232700
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Dysphagia, Elevated circulating creatine kinase concentration, E... ORPHA:368
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Lipodystrophy, Familial Partial, Type 3
Hypertension, Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabe... OMIM:604367
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:157
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Myoglobinuria, Abnormal urinary color ORPHA:98895
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Stage 5 chronic kid... OMIM:251000
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Alstrom Syndrome
Dilated cardiomyopathy, Tubulointerstitial nephritis, Insulin-resistant diabetes mellitus, Hypert... OMIM:203800
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... OMIM:606995
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Harderoporphyria
Neonatal hyperbilirubinemia, Increased urinary porphobilinogen, Increased circulating ferritin co... OMIM:618892
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
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Hyperammonemia, Increased level of hippuric acid in urine, Hyperuricemia, 3-Me... OMIM:246450
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hep... OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:228308
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Dia... ORPHA:77296
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia ORPHA:234
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hep... OMIM:232220
Nephronophthisis 11
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... OMIM:613550
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, P... ORPHA:275555
Fanconi Renotubular Syndrome 5
Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... OMIM:618913
Birk-Landau-Perez Syndrome
Renal insufficiency, Hyperechogenic kidneys, Tubulointerstitial nephritis, Hyperkalemia OMIM:617595
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Abnormal urine sodi... ORPHA:320
Nephrogenic Diabetes Insipidus
Hypernatremia, Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter,... ORPHA:223
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Dark uri... ORPHA:99845
Central Diabetes Insipidus
Hyponatremia, Nocturia, Polydipsia ORPHA:178029
Adrenomyodystrophy
Abnormality of the urinary system, Megacystis ORPHA:977
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Elevated circulating creatinine concent... OMIM:137920
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin, Skin rash ORPHA:90036
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Hepatomegaly, Maternal diabetes, Insulin resistance, I... ORPHA:79083
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Mpdu1-Cdg
Renal cortical cysts, Eczema, Elevated circulating creatine kinase concentration ORPHA:79323
Porphyria
Abnormal urinary color, Abnormal circulating porphyrin concentration ORPHA:738
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90037
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterol... ORPHA:181393
Glycogen Storage Disease Ic
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hypoglycemia, Hepatomegaly, ... OMIM:232240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Vii
Gout, Exercise-induced myoglobinuria, Hyperuricemia, Increased total bilirubin OMIM:232800
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
East Syndrome
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, ... ORPHA:199343
Bardet-Biedl Syndrome 17
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria OMIM:615994
Atherosclerosis Susceptibility
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... ORPHA:93111
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... OMIM:602522
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Abnormal serum bile acid concentration, Renal cyst, Hyperbilirubinemia, Dar... ORPHA:79303
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Cystinosis
Renal tubular dysfunction, Hypokalemia, Polydipsia, Hypophosphatemia, Nephropathy, Aminoaciduria,... ORPHA:213
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, H... OMIM:612780
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Polyphagia, Increased blood urea nitrogen, Membranoprolifer... ORPHA:251004
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Proximal rena... OMIM:229600
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Nephrocalcinosis, Gout, Hyperu... ORPHA:90041
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly OMIM:619175
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Hepatic steatos... OMIM:610717
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis OMIM:619362
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia, Diabetes mellitus, Hepatic steatosis OMIM:613877
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Purple urine, Increased urinary porphobilinogen, Increased erythrocyte protoporphyr... ORPHA:100924
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Polydipsia,... ORPHA:411634
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Hyperbiliverdinemia
Green urine OMIM:614156
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Polydipsia, Proximal tubulopathy... ORPHA:18
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Orthostatic hypotension, Glucose intolerance, Impaired glucose tolerance, Pan... OMIM:606721
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Decreased plasma free carnitine, Elevated circulating creatine kinase concentratio... ORPHA:228305
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency, Nephropathy ORPHA:1909
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color, Infectious encephalitis, Skin rash ORPHA:2116
Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:98375
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Helix Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insuffi... OMIM:617671
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Adrenal insufficiency, Hypoglycemia, Nephrotic syndrome, Stag... OMIM:617575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Polyphagia OMIM:615986
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Serositis, Malar ras... ORPHA:231111
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... OMIM:616730
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Visceral Myopathy 1
Hydronephrosis, Dysphagia, Urinary retention, Megacystis, Pancreatitis, Vesicoureteral reflux OMIM:155310
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... ORPHA:488627
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriatel... OMIM:301033
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... ORPHA:49041
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu... ORPHA:93552
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal c... OMIM:263200
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Hypophosphatemia, Hyperc... OMIM:239200
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Familial Visceral Myopathy
Megacystis, Hydroureter, Vesicoureteral reflux ORPHA:2604
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Megacystis, Hydroureter ORPHA:2241
Gitelman Syndrome
Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Hypomagnesemia, Renal potassium wasting, En... OMIM:263800
Visceral Myopathy 2
Necrotizing enterocolitis, Megacystis, Esophagitis, Dysphagia OMIM:619350
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuri... ORPHA:183
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceride... OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovarie... ORPHA:280356
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Acute Adrenal Insufficiency
Hyperkalemia, Hyponatremia, Hypercalcemia, Androgen insufficiency, Hypoglycemia, Decreased circul... ORPHA:95409
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Decreased circu... OMIM:616829
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Acute Intermittent Porphyria
Hyponatremia, Urinary retention, Pseudobulbar paralysis, Dysuria, Porphyrinuria, Dark urine, Incr... ORPHA:79276
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis, Hypokalemia ORPHA:369929
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... OMIM:191800
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Ne... ORPHA:730
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia OMIM:245900
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... OMIM:612526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... ORPHA:99880
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... OMIM:603278
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... ORPHA:33001
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Parathyroid Carcinoma
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... ORPHA:143
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... OMIM:603471
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts OMIM:614866
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... OMIM:613090
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating... OMIM:300635
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Tachycardia, Neona... ORPHA:348
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... OMIM:616516
Brain-Lung-Thyroid Syndrome
Hypospadias, Abnormal drinking behavior, Megacystis, Abnormal eating behavior, Recurrent pneumoni... ORPHA:209905
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney OMIM:613730
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Polydipsia, Ab... ORPHA:411629
Temple Syndrome
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Hypertriglyce... OMIM:616222
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria, Hypokalemia ORPHA:251274
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In... OMIM:252150
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Stage 5 chronic kidney di... OMIM:600995
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Abnormal ... ORPHA:37042
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Rec... OMIM:613095
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Increased urinary glycerol, Hypertriglyceridemia, Cryptorchi... OMIM:307030
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... ORPHA:340
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp... OMIM:241200
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, H... OMIM:616733
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Albuminuri... OMIM:214100
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy, Dysphagia OMIM:618578
Uremic Pruritus
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... ORPHA:94059
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatomegaly, Generalized aminoaciduria, Fasting hypoglycemia, Hepatocellular ... ORPHA:2088
Beta-Ketothiolase Deficiency
Hyperammonemia, Oral aversion, Hyperuricemia, Ketonuria ORPHA:134
Harrod Syndrome
Hypospadias, Renal cortical microcysts OMIM:601095
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... OMIM:607364
Addison Disease
Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Premature ova... ORPHA:85138
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Hypoglycemia, Orthostatic hypotension, Hepatitis... ORPHA:199299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Joubert Syndrome 5
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... OMIM:610188
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Hypermagnesemia, Renal insufficiency ORPHA:469
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Patent d... OMIM:616000
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias ORPHA:1692
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Sjogren Syndrome
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Hypokal... ORPHA:358
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Eczema, Minima... OMIM:618348
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertr... OMIM:603552
C Syndrome
Renal cortical cysts OMIM:211750
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Renal cyst, Nephropathy OMIM:611773
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta... OMIM:601678
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine... OMIM:252160
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, Calcinosis, Hydronephrosis, Aminoaciduria OMIM:617913
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Recurrent pancreatitis, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, ... OMIM:615287
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Dysphagia, Myoglobinuria, Hypernatremia, Elevated circulating creatin... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... OMIM:616828
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231580
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Cardiomyopathy, Cirrhosis, Hepatosplenomegaly, Portal hypertension OMIM:232500
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Laron Syndrome
Hypoglycemia, Osteoarthritis, Abnormality of the endocrine system, Hypercholesterolemia, Hypohidr... ORPHA:633
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Cystinosis, Nephropathic
Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Polydipsia, Oral-phar... OMIM:219800
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia ORPHA:147
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hepatomegaly, Lipid accumulation in hepatocytes, Hyperammonemia, Recurren... ORPHA:20
Joubert Syndrome 20
Renal cyst OMIM:614970
Dopamine Beta-Hydroxylase Deficiency
Syncope, Hypoglycemia, Insulin resistance, Orthostatic hypotension, Orthostatic syncope, Elevated... ORPHA:230
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p... ORPHA:91500
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hyperchole... ORPHA:79237
Acquired Generalized Lipodystrophy
Hypertension, Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal cir... ORPHA:79086
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Meningocele, Renal cortical cysts, Recurrent aspiration pneumonia, Renal dysplasia, ... ORPHA:397715
Lead Poisoning
Decreased HDL cholesterol concentration, Renal tubular dysfunction, Tubulointerstitial nephritis,... ORPHA:330015
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Dysphagia, Recurrent otitis media OMIM:618494
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydronephrosis, Renal agenesis, Urethral stenosis, Renal dysplasia, Megacystis, Duplicated collec... OMIM:604292
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic liver di... OMIM:602114
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Lymphangioleiomyomatosis
Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm, Abnormal urinary color ORPHA:538
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Decreased urine output, Increased circulating interleukin 6,... ORPHA:542323
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst OMIM:614175
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Ureteral atresia OMIM:183802
Heme Oxygenase 1 Deficiency
Hypertension, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Hematuria, Nephritis, ... OMIM:614034
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Renal cortical microcysts, Hy... OMIM:222470
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Nephropathy OMIM:266920
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Vesicoureteral reflux, Nephroblastoma, E... OMIM:130650
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Insulin resistance, Pol... ORPHA:528
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Splenomegaly, Increased circulating ferritin concentration,... OMIM:613101
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia OMIM:238750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Abnormal renal physiology, Hyperbilirubinemia, Splenomegaly, Increased ... ORPHA:158057
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia ORPHA:6
Coach Syndrome 2
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulatin... OMIM:619111
Saccharopinuria
Hypercystinemia, Cystinuria, Hyperammonemia, Citrullinuria, Abnormality of circulating enzyme lev... ORPHA:3124
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Cocaine Intoxication
Tubulointerstitial nephritis, Colitis, Elevated circulating creatine kinase concentration, Hematu... ORPHA:90068
Erdheim-Chester Disease
Hydronephrosis, Polydipsia, Dysuria, Osteomyelitis, Skin rash, Renal insufficiency ORPHA:35687
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hypertriglyceridemi... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chro... ORPHA:54370
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythrode... ORPHA:540
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangitis, Pancreatic cysts, Polydipsia, Stage 5 chronic kidney disease, Recurren... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Seckel Syndrome 10
Hypertension, Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucos... OMIM:617253
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Gastr... ORPHA:247598
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellu... ORPHA:370
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, ... ORPHA:2348
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Dysphagia ORPHA:412217
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... ORPHA:412
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Mirizzi Syndrome
Pancreatitis, Hyperbilirubinemia, Dark urine ORPHA:521219
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate ORPHA:760
Relapsing Fever
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Epis... ORPHA:91547
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis, Neurogenic bladder OMIM:619218
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Hydronephrosis, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Recurrent otitis ... ORPHA:254531
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitatio... ORPHA:401923
Rabson-Mendenhall Syndrome
Hypokalemia, Polydipsia, Long penis, Nephrocalcinosis, Increased C-peptide level ORPHA:769
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Pneumonia, Elevated circulating creatinine concentration, Glomerula... ORPHA:247691
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... ORPHA:369
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Azotemia, Familial
Azotemia OMIM:109160
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic... ORPHA:79085
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi... OMIM:618183
Low Phospholipid-Associated Cholelithiasis
Hypertension, Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, P... ORPHA:69663
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... OMIM:256300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Hypoglycemia, Portal fibrosis, Hepatic fibrosi... ORPHA:264580
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Renal insufficiency OMIM:611209
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Capillary leak, Infectious enceph... ORPHA:36234
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... ORPHA:66628
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis, Pneumonia OMIM:300209
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, El... ORPHA:79240
Panhypophysitis
Hyponatremia, Hashimoto thyroiditis, Hyposthenuria, Polydipsia ORPHA:95513
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Increased urinary taurine OMIM:615501
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Purple urine, Red-brown urine, Red urine, Recurrent bacterial skin infec... ORPHA:95159
Transketolase Deficiency
Elevated circulating ribitol concentration, Seborrheic dermatitis, Renal cyst, Uveitis, Increased... ORPHA:488618
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... ORPHA:179494
Propionic Acidemia
Organic aciduria, Hyperammonemia ORPHA:35
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:618620
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration ORPHA:35878
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated c... ORPHA:435660
Webb-Dattani Syndrome
Hydronephrosis, Hypernatremia, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Skin rash, Ectopic kidney, Aminoaciduria ORPHA:634
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia, Dysuria, Pancreatitis, Abnormality of the urethra, Renal insufficiency, Co... ORPHA:537
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre... ORPHA:2970
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Hyperglycemia, ST segment depression, Prolonged QTc i... ORPHA:90065
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nephritis, Renal insufficiency ORPHA:3327
Wolfram Syndrome
Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Nephr... ORPHA:3463
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Eleva... ORPHA:158684
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypospadias, 3-Methylglutaconic aciduria, Hyperammonemia OMIM:604273
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Hypertriglycer... OMIM:615381
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypothyroidism, Hyp... OMIM:619013
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Hepatitis, Splenomegaly, Increased inflammator... ORPHA:158061
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... ORPHA:97214
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated circulating creatin... ORPHA:97292
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Dark yellow urine ORPHA:30391
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Seborrhoeic blepharitis, Unconjugated hyperbilirubinemia, Purple urine... ORPHA:79277
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration OMIM:614025
Wolfram Syndrome 1
Hydronephrosis, Hydroureter, Dysphagia, Neurogenic bladder OMIM:222300
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal... OMIM:255120
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Igg4-Related Aortitis
Increased inflammatory response, Hydronephrosis, Elevated circulating C-reactive protein concentr... ORPHA:449400
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Dysphagia, Lacticaciduria, Elevated circulating creatine kinase concentrat... ORPHA:26791
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Decreased HDL cholesterol concentration, Increased hepatic e... OMIM:278000
Simple Cryoglobulinemia
Mesangial hypercellularity, Raynaud phenomenon, Microscopic hematuria, Gastrointestinal hemorrhag... ORPHA:91139
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatic cysts, Hypocalcemia, Chronic kidney disease, Renal magnesiu... OMIM:218330
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hypertrophic cardiomyopathy, Focal segmental glomerulosclerosis, Hepatomeg... OMIM:617303
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczema, Hypertriglyceridemia OMIM:177000
Cockayne Syndrome
Keratoconjunctivitis sicca, Renal hypoplasia, Nephrotic syndrome, Abnormal renal physiology, Hype... ORPHA:191
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Hyperammonemia OMIM:618120
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... OMIM:211900
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... ORPHA:79403
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Cockayne Syndrome Type 1
Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Conjunctivitis ORPHA:90321
Smith-Magenis Syndrome
Abnormality of the urinary system, Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the... OMIM:182290
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Arima Syndrome
Renal tubular atrophy, Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibro... OMIM:243910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis OMIM:615398
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ...