Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Slc7a9 MGI:1353656

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 7 (cationic amino acid transporter, y+ system), member 9

Synonyms:

b^o, + amino acid transporter, CSNU3, b^o, +AT

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Slc7a9 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.

Human diseases associated with Slc7a9 (1 diseases)
Human diseases predicted to be associated with Slc7a9 (693 diseases)

The table below shows human diseases associated to Slc7a9 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cystinuria		Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100

The table below shows human diseases predicted to be associated to Slc7a9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phenylketonuria	Aminoaciduria	ORPHA:716
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Carnosinemia	Carnosinuria	OMIM:212200
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Threoninemia	Hyperthreoninuria	OMIM:273770
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Homocarnosinosis	Carnosinuria	OMIM:236130
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Hyper-Beta-Alaninemia	Increased urinary taurine	OMIM:237400
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr...	OMIM:260005
Hypouricemia, Renal, 1	Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tubular epithelia...	OMIM:220150
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Valinemia	Valinuria	OMIM:277100
Gracile Syndrome	Aminoaciduria	OMIM:603358
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Methylmalonic aciduria	OMIM:613646
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239500
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Argininemia	Diaminoaciduria	ORPHA:90
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Pentosuria	Abnormal urine carbohydrate level	ORPHA:2843
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinuria	OMIM:238750
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Hyperlysinemia, Type I	Hyperlysinuria	OMIM:238700
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Galactosemia Iii	Aminoaciduria, Galactosuria	OMIM:230350
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Methionine Malabsorption Syndrome	Aminoaciduria	OMIM:250900
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Ornithine Transcarbamylase Deficiency	Aminoaciduria	ORPHA:664
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric aciduria	OMIM:613657
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Hypertryptophanemia	Tryptophanuria	OMIM:600627
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Aminoaciduria, Lacticaciduria, Pancreatitis	OMIM:619386
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Glycine Encephalopathy 1	Hyperglycinuria	OMIM:605899
Glutathionuria	Eczema, Urinary incontinence, Glutathionuria	OMIM:231950
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D...	ORPHA:49041
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163693
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria	OMIM:609560
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Hereditary Orotic Aciduria	Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro...	ORPHA:30
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Orthostatic Intolerance	Elevated urinary norepinephrine level	OMIM:604715
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Elevated circulating creat...	ORPHA:85450
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Pancreatitis	OMIM:251000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco...	OMIM:613404
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Lipoyltransferase 1 Deficiency	Alaninuria, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine	OMIM:271980
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Elevated circulating...	ORPHA:91500
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile	ORPHA:391417
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria	OMIM:250940
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten...	ORPHA:33001
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Eczema, Increased urinary sulfite level	OMIM:272300
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria	OMIM:176200
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy...	ORPHA:3467
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ...	ORPHA:139402
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:276710
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis	OMIM:614582
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Pyruvate Dehydrogenase Phosphatase Deficiency	Lacticaciduria	ORPHA:79246
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res...	ORPHA:183
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Methylmalonic aciduria	OMIM:236270
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atro...	OMIM:208085
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria	OMIM:255100
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem...	ORPHA:31826
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Hyperprolinemia Type 2	Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra...	ORPHA:79101
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
D-Lactic Aciduria With Gout	Lacticaciduria	OMIM:245450
Hartnup Disease	Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria	ORPHA:2116
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Nephrolithiasis, Cystinuria	OMIM:606407
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci...	ORPHA:2088
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Hawkinsinuria	4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	ORPHA:2118
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Pancreatic Cancer	Increased level of L-fucose in urine	OMIM:260350
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Beta-alaninuria, Elevated urinary aminoisobutyric acid, M...	OMIM:614105
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Organic aciduria	OMIM:617184
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria	OMIM:251120
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria	OMIM:614265
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria	OMIM:615330
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia	OMIM:615996
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Alstrom Syndrome	Renal insufficiency, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis,...	OMIM:203800
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria, Pancreatitis	OMIM:603471
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria	OMIM:618857
Hyperparathyroidism, Neonatal Severe	Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria	OMIM:239200
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
D-Glyceric Aciduria	Patent ductus arteriosus, Aminoaciduria, Micropenis	OMIM:220120
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria	OMIM:612073
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria	ORPHA:6
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Lacticaciduria	OMIM:619063
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ...	ORPHA:340
Propionic Acidemia	Organic aciduria	ORPHA:35
Intermediate Uveitis	Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent...	ORPHA:411634
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Homocitrullinuria	OMIM:238970
Urocanase Deficiency	Urocanic aciduria	OMIM:276880
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria	ORPHA:35706
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy...	OMIM:605711
Lead Poisoning	Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Skin rash	ORPHA:330015
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Hawkinsinuria	Hypertyrosinemia, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Idiopathic Hypercalciuria	Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r...	ORPHA:2197
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine	OMIM:615501
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria	OMIM:124000
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria	ORPHA:79159
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Urocanic Aciduria	Urocanic aciduria	ORPHA:210128
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria	OMIM:616034
Mitochondrial Pyruvate Carrier Deficiency	Organic aciduria	OMIM:614741
Combined Oxidative Phosphorylation Deficiency 36	Aciduria	OMIM:617950
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Homocystinuria, Methylmalonic aciduria	OMIM:614857
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Alkaptonuria	Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis	ORPHA:56
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Methylmalonic aciduria	OMIM:277410
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria	OMIM:619003
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Hyperglycinuria, Organic aciduria, Seborrheic dermatitis	OMIM:210210
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys...	ORPHA:95455
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i...	ORPHA:90068
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections	OMIM:619218
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Hydronephrosis	OMIM:619797
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	OMIM:207900
Propionic Acidemia	Pancreatitis, Eczema, Increased level of hippuric acid in urine, Hyperglycinuria	OMIM:606054
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, Tubulointerstitial nephriti...	ORPHA:358
Mitochondrial Dna Depletion Syndrome 18	Lacticaciduria	OMIM:618811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Prune Belly Syndrome	Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Glycosuria	ORPHA:2089
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria	OMIM:602080
Argininemia	Diaminoaciduria, Oroticaciduria	OMIM:207800
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated...	OMIM:606812
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema...	ORPHA:79403
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Riboflavin Deficiency	Dicarboxylic aciduria	OMIM:615026
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hypernatriuria, Hyposthenuria	OMIM:300539
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Skin rash, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Stomatitis, Homocy...	OMIM:277380
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Homocystinuria, Pancreatitis	OMIM:236200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria	OMIM:619055
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria	OMIM:620089
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level	OMIM:239000
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria	OMIM:264700
Lysinuric Protein Intolerance	Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Oroticaciduria, Pancreatitis	OMIM:222700
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hyd...	OMIM:214100
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep...	ORPHA:411536
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Recurrent otitis media, Ureteropel...	OMIM:154230
2-Methylbutyryl-Coa Dehydrogenase Deficiency	2-ethylhydracylic aciduria	OMIM:610006
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Brown-Vialetto-Van Laere Syndrome 2	Organic aciduria	OMIM:614707
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Hepatocellular necrosis	OMIM:251880
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria	OMIM:210200
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 26	Lacticaciduria	OMIM:618247
Wilson Disease	Hyperphosphaturia, Proteinuria, Osteoarthritis, Atypical or prolonged hepatitis, Nephrolithiasis,...	OMIM:277900
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Interstitial Lung And Liver Disease	Aminoaciduria	OMIM:615486
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis	OMIM:620141
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis	OMIM:615926
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Hydronephrosis	OMIM:300048
Tetrasomy 15Q26	Patent ductus arteriosus, Hydronephrosis, Horseshoe kidney	OMIM:614846
Leigh Syndrome	Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunct...	ORPHA:506
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Hydronephrosis	OMIM:179613
X-Linked Intellectual Disability, Armfield Type	Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ...	OMIM:246450
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria	ORPHA:289157
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Diabetic Embryopathy	Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:1926
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Ele...	OMIM:608836
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis	OMIM:261680
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Glutaric Aciduria Iii	Glutaric aciduria	OMIM:231690
Hyperlysinemia	Argininuria, Recurrent pneumonia, Cystinuria, Decreased urine alpha-ketoglutarate concentration, ...	ORPHA:2203
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis	OMIM:231530
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci...	OMIM:615751
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Recurrent otitis media, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis	OMIM:220210
Orotic Aciduria	Hematuria, Oroticaciduria, Orotic acid crystalluria	OMIM:258900
Sarcoidosis	Renal insufficiency, Maculopapular exanthema, Erythema nodosum, Nephrolithiasis, Hypercalciuria, ...	ORPHA:797
Trisomy 13	Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displacement of the ur...	ORPHA:3378
Holocarboxylase Synthetase Deficiency	Perioral eczema, Organic aciduria, Eczema, Keratoconjunctivitis	ORPHA:79242
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Kury-Isidor Syndrome	Recurrent otitis media, Hydronephrosis	OMIM:619762
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a...	OMIM:619355
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl...	ORPHA:158684
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Igg4-Related Aortitis	Increased inflammatory response, Hydronephrosis	ORPHA:449400
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn...	ORPHA:261290
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca	ORPHA:79078
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Dilatation of the renal pelvis, Horseshoe ki...	ORPHA:314588
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatinine concentr...	OMIM:613095
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Cheilitis, Proteinuria, Proximal renal tubular acidosis, Nep...	ORPHA:534
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria	ORPHA:395
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria	ORPHA:79644
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses...	ORPHA:391641
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Zaki Syndrome	Patent ductus arteriosus, Renal agenesis, Hydronephrosis	OMIM:619648
Holocarboxylase Synthetase Deficiency	Skin rash, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric ...	OMIM:253270
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria, Aspiration pneumonia	OMIM:619167
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent ductus arteriosus, Hydronephrosis	OMIM:620327
Trisomy 1Q	Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micropenis, Hypospadias, Hydronephrosis	OMIM:616897
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Visceral Myopathy 1	Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Xeroderma Pigmentosum	Keratitis, Aminoaciduria, Blepharitis	ORPHA:910
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis	OMIM:301056
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Polycyst...	ORPHA:2237
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hydronephrosis	OMIM:619179
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Glutaric Acidemia I	Glutaric aciduria, Ketonuria	OMIM:231670
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria	OMIM:613070
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Microscopi...	OMIM:274150
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski...	ORPHA:900
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:457193
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication	ORPHA:96169
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis	OMIM:610733
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria	OMIM:615453
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration	OMIM:620366
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Ureteral triplication, Hydronephrosis	OMIM:104350
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Chronic otitis media, Renal cyst, Vesicour...	ORPHA:261494
Methylmalonic Aciduria, Cbla Type	Elevated urine 2-methylcitric acid level, Ketonuria, Elevated urine 3-hydroxypropionic acid level...	OMIM:251100
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis	OMIM:611209
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Combined Oxidative Phosphorylation Deficiency 19	Lacticaciduria	OMIM:615595
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary vanillylmandelic acid, Elevated urinary epinephrine level, Elevated urinary dopa...	OMIM:171400
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis, Esophagitis	ORPHA:541423
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:2315
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria	OMIM:251110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus arteriosus, Hydro...	OMIM:614080
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio...	ORPHA:2473
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:7
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney	ORPHA:1225
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Erythroderma	ORPHA:35173
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn...	ORPHA:2953
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Cat Eye Syndrome	Renal agenesis, Patent ductus arteriosus, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	OMIM:115470
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic syndrome, Focal segmental g...	OMIM:617303
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Amish Lethal Microcephaly	Organic aciduria	ORPHA:99742
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Microphthalmia, Syndromic 9	Renal malrotation, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, H...	OMIM:601186
Carpenter Syndrome 1	Patent ductus arteriosus, Hydroureter, Hydronephrosis	OMIM:201000
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Hydronephrosis	OMIM:617798
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	OMIM:311900
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi...	OMIM:300707
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a...	OMIM:619743
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Hydronephrosis	ORPHA:35687
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Patent ductus arteriosus, Horseshoe kidney, Multiple renal ...	ORPHA:99776
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Erysipelas, Hydronephrosis	OMIM:235510
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Pelvis-Shoulder Dysplasia	Hydronephrosis	ORPHA:2839
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micropenis, Hydronephrosis	OMIM:235255
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Organic aciduria, Conjunctivitis	OMIM:253260
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Eczema, Pneumonia, Peritoniti...	OMIM:619991
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Hepatitis, Hydronephrosis, Chronic hepatitis	OMIM:614921
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Hydronephrosis	ORPHA:250989
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria	ORPHA:404454
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria	OMIM:616457
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Patent ductus arterios...	OMIM:146510
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
8P Inverted Duplication/Deletion Syndrome	Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Eczema, Patent ductus arteriosus, Vesicoureteral reflux, Hydr...	OMIM:610443
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis	ORPHA:314585
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Erythroderma	OMIM:302960
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Infectious en...	ORPHA:847
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micropenis, Abnormal renal morphology, Hydronephrosis	ORPHA:1655
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Hydronephrosis	OMIM:608779
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Patent ductus arteriosus, Renal dysplasia	OMIM:300968
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydr...	OMIM:618454
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Hydronephrosis	ORPHA:210122
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Stromme Syndrome	Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Micropenis, Renal agenesis, Hypospadias, Hydronephrosis	OMIM:301040
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Citrullinemia, Classic	Oroticaciduria	OMIM:215700
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Keratitis, Inflammatory abnormality of the eye, Urethral a...	ORPHA:1896
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Micropenis, Pelvic ...	ORPHA:464311
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis	ORPHA:2750
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Horseshoe kidne...	ORPHA:2092
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis	ORPHA:453499
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Patent ductus arteriosus, ...	OMIM:612541
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent oti...	OMIM:251260
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Eczema, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Micropenis,...	ORPHA:464306
Au-Kline Syndrome	Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis	OMIM:616580
White-Kernohan Syndrome	Recurrent otitis media, Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Aspartylglucosaminuria	Chronic otitis media, Arthritis, Aspartylglucosaminuria	ORPHA:93
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal megacystis, Rena...	OMIM:619351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl...	ORPHA:280633
Otopalatodigital Syndrome Type 2	Hydronephrosis, Hypospadias, Ureteral obstruction	ORPHA:90652
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis	OMIM:300712
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:444072
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Oroticaciduria	OMIM:620358
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Patent ur...	OMIM:192350
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Beta-Ketothiolase Deficiency	Ketonuria	ORPHA:134
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enuresis, Chronic otitis media,...	ORPHA:96121
Aspartylglucosaminuria	Aspartylglucosaminuria, Acne	OMIM:208400
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac...	ORPHA:2785
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria	OMIM:311250
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Hydronephrosis	OMIM:115150
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Opitz Gbbb Syndrome	Hypospadias, Patent ductus arteriosus, Abnormality of the urinary system, Vesicoureteral reflux, ...	ORPHA:2745
Raine Syndrome	Hydroureter, Hydronephrosis	OMIM:259775
Distal Deletion 12Q	Late onset atopic dermatitis, Ectopic kidney, Patent ductus arteriosus, Polycystic kidney dysplas...	ORPHA:96149
Cousin Syndrome	Hydronephrosis	OMIM:260660
Monosomy 22Q13.3	Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal...	ORPHA:48652
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria	ORPHA:480864
Cutis Laxa, Autosomal Recessive, Type Ic	Recurrent pneumonia, Hydronephrosis, Multiple bladder diverticula	OMIM:613177
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ...	OMIM:129900
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	ORPHA:2886
Cardiofaciocutaneous Syndrome	Hydronephrosis	ORPHA:1340
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
3Mc Syndrome 1	Patent ductus arteriosus, Hydronephrosis	OMIM:257920
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Micropenis, Hypospadias, Hydronephrosis	ORPHA:163979
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis...	ORPHA:2552
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Ureteral obstruction	OMIM:304150
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Apert Syndrome	Chronic otitis media, Acne, Hydronephrosis	OMIM:101200
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
Trisomy 8P	Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis	ORPHA:264450
Alg9-Cdg	Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,...	ORPHA:79328
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Dubowitz Syndrome	Eczema, Hypospadias, Hydronephrosis	ORPHA:235
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Acute pancreatitis	ORPHA:20
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Melnick-Needles Syndrome	Recurrent otitis media, Ureteral stenosis, Hydronephrosis	OMIM:309350
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis	OMIM:269150
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria...	ORPHA:79282
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction	ORPHA:1826
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Knobloch Syndrome 1	Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli...	OMIM:267750
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis	OMIM:229850
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Increased urinary glycerol, Ketonuria	ORPHA:247598
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Eczema, Fetal pyelectasis, Recurrent otitis medi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Eczema, Fetal pyelectasis, Recurrent otitis medi...	ORPHA:363958
Schinzel-Giedion Syndrome	Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micrope...	ORPHA:798
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent ...	ORPHA:818
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Patent ductus arteriosus, ...	OMIM:619522
Insulin-Resistance Syndrome Type B	Proteinuria, Pneumonia, Skin rash, Osteoarthritis, Glycosuria, Nephritis	ORPHA:2298
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Hydronephrosis	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Hydronephrosis	ORPHA:352665
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Pneumonia, Patent ductus arteriosus, Nephrolithi...	ORPHA:353281
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczema, Hydronephrosis	ORPHA:2308
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:280000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Recurrent skin infections, Hydronephrosis	OMIM:601776
Robinow Syndrome	Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:97360
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz...	ORPHA:2273
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Patent ductus arteriosus, Recurrent otitis media, Conjunctivi...	OMIM:616268
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Horseshoe kidney, Ar...	ORPHA:3310
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria	OMIM:203700
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Atopic dermatitis, Nephrocalcinosis, Congenital posterior ure...	OMIM:136140
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Micropeni...	ORPHA:83617
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Patent ductus arteriosus, Dilatation of the renal pelvis, Dilatation of...	OMIM:265380
Digeorge Syndrome	Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Patent ductus arteri...	OMIM:188400
Lacrimoauriculodentodigital Syndrome	Patent ductus arteriosus, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis...	ORPHA:2363
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2636
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr...	ORPHA:2729
Zygomycosis	Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton...	ORPHA:73263
Charge Syndrome	Patent ductus arteriosus, Horseshoe kidney, Vesicoureteral reflux, Micropenis, Hydronephrosis	ORPHA:138
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:506358
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Myocarditis, Glycosuria, Acute kidney injury	ORPHA:466677
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Patent ductus arteriosus, Elevated circulating creatinine concen...	OMIM:619534
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Patent ductus arteriosus, Renal cyst...	ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Nephrolithiasis, Aspiration pneumonia, Vesicoureteral reflux, Hydroneph...	ORPHA:438213
Kabuki Syndrome 1	Crossed fused renal ectopia, Micropenis, Recurrent otitis media, Ureteropelvic junction obstructi...	OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Patent duc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Patent duc...	ORPHA:353277
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Campomelic Dysplasia	Hypospadias, Hydronephrosis	OMIM:114290
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis	OMIM:135900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Hydrolethalus Syndrome 1	Hypospadias, Hydronephrosis	OMIM:236680
Rubinstein-Taybi Syndrome 1	Patent ductus arteriosus, Hypospadias, Hydronephrosis	OMIM:180849
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Eczema, Hydronephrosis	OMIM:620330
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Focal Dermal Hypoplasia	Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney	OMIM:305600
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Recurrent skin infections, Wide penis, Synovitis...	ORPHA:3455
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Patent ductus arteriosus, Renal cyst, Duplication of renal pelvis, Nephroblastoma, H...	OMIM:312870
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Patent ductus arteriosus, Renal dysplasia	ORPHA:480880
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis	OMIM:261540
Charge Syndrome	Renal agenesis, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydrone...	OMIM:214800
Otopalatodigital Syndrome, Type Ii	Hypospadias, Hydronephrosis	OMIM:304120
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Paten...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Recurrent otitis media,...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Patent ductus arteriosus, Duplic...	ORPHA:261552
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias	OMIM:220111
Viss Syndrome	Chronic gastritis, Eczema, Patent ductus arteriosus, Atopic dermatitis, Hydronephrosis	OMIM:619472
Johanson-Blizzard Syndrome	Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula	OMIM:243800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc7a9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc7a9.

No publications found that use IMPC mice or data for Slc7a9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us