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:
bo, + amino acid transporter,  CSNU3,  bo, +AT

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 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
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
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Tiglic Acidemia
Aminoaciduria OMIM:275190
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Hyperprolinemia, Type Ii
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239510
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Threoninemia
Hyperthreoninuria OMIM:273770
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Camptodactyly 1
Increased urinary taurine OMIM:114200
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Saccharopinuria
Citrullinuria, Saccharopinuria, Hyperlysinuria, Histidinuria OMIM:268700
Uridine-Cytidineuria
Elevated urinary cytidine, Elevated uridine in urine OMIM:618477
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Homocarnosinosis
Carnosinuria OMIM:236130
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Hyper-Beta-Alaninemia
Increased urinary taurine OMIM:237400
Neuroblastoma
Elevated urinary catecholamines ORPHA:635
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
5-Oxoprolinase Deficiency
Prolinuria, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephr... OMIM:260005
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Gastric Cancer
Increased level of L-fucose in urine OMIM:613659
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... OMIM:220150
Valinemia
Valinuria OMIM:277100
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Gracile Syndrome
Aminoaciduria OMIM:603358
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Argininemia
Diaminoaciduria ORPHA:90
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239500
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Pentosuria
Abnormal urine carbohydrate level ORPHA:2843
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria OMIM:238750
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria OMIM:613657
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Rowley-Rosenberg Syndrome
Aminoaciduria, Recurrent pneumonia OMIM:268500
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
Hypertryptophanemia
Tryptophanuria OMIM:600627
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentra... OMIM:602088
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Pancreatitis, Lacticaciduria OMIM:619386
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Glycine Encephalopathy
Hyperglycinuria OMIM:605899
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Riboflavin Deficiency
Dicarboxylic aciduria OMIM:615026
Saccharopinuria
Hyperlysinuria, Citrullinuria, Cystinuria ORPHA:3124
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... ORPHA:49041
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chr... ORPHA:157
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria OMIM:251000
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Dicarboxyli... ORPHA:228308
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Galactosemia I
Increased level of galactitol in urine, Galactosuria, Albuminuria, Aminoaciduria OMIM:230400
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria, Patent ductus arteriosus, Am... ORPHA:30
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Birk-Landau-Perez Syndrome
Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Hydronephrosis OMIM:617913
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile ORPHA:391417
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... ORPHA:91500
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria OMIM:250940
D-Glyceric Aciduria
Aminoaciduria OMIM:220120
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria OMIM:309541
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Patent ductus arteriosus, Recurrent urinary trac... ORPHA:33001
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Sjogren Syndrome
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria OMIM:236270
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Skin rash, Ectopic kidney, Aminoaciduria ORPHA:634
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Hereditary Xanthinuria
Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis... ORPHA:3467
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine OMIM:271980
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... ORPHA:449395
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria OMIM:276710
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Ketonuria OMIM:251120
Canavan Disease
Elevated urinary N-acetylaspartic acid level OMIM:271900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Osteoarthritis, Nephrolithiasis, Gly... OMIM:277900
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... OMIM:191800
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Arthriti... ORPHA:183
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria OMIM:210550
Cystinosis
Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency ORPHA:213
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Gastritis, Renal tubular epithelial... ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... OMIM:220110
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Renal insufficiency OMIM:162000
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria OMIM:140350
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... ORPHA:436271
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria OMIM:227810
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis OMIM:606407
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria OMIM:614265
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Urocanase Deficiency
Urocanic aciduria OMIM:276880
Pancreatic Cancer
Increased level of L-fucose in urine OMIM:260350
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color, Infectious encephalitis, Skin rash ORPHA:2116
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Glycosuri... ORPHA:2088
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,... OMIM:617006
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Po... OMIM:619468
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Acute kidney... ORPHA:79233
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Isovaleric Acidemia
Hyperglycinuria OMIM:243500
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Renal insufficiency, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Pyoderma, Urinary retention, Pneumonia, Aplasia/Hypoplasia ... ORPHA:79404
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria ORPHA:2118
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalciuria, Polyuria, Aminoaciduria OMIM:239200
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria, Pancreatitis OMIM:603471
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Ornithinuria, Decreased glomerular filtration rate,... ORPHA:470
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
D-Glyceric Aciduria
Hyperglycinuria ORPHA:941
Alstrom Syndrome
Chronic active hepatitis, Tubulointerstitial nephritis, Nephritis, Otitis media, Recurrent pneumo... OMIM:203800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Elevated circulating creatinine concentration, Stag... ORPHA:411634
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Propionic Acidemia
Organic aciduria ORPHA:35
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In... OMIM:252150
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal tubulointerstitial... ORPHA:411629
Hemorrhagic Fever-Renal Syndrome
Decreased urine output, Tubulointerstitial nephritis, Pneumonia, Anuria, Decreased glomerular fil... ORPHA:340
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria ORPHA:79159
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria OMIM:614857
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninuria, Methylmalonic aciduria, Stomatitis, Homocystinuria, Skin rash OMIM:277380
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Ketonuria OMIM:618857
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria OMIM:277410
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine OMIM:252160
Urocanic Aciduria
Urocanic aciduria ORPHA:210128
Fumarase Deficiency
Aminoaciduria OMIM:606812
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria OMIM:614741
Alkaptonuria
Prostatitis, Arthritis, Nephrolithiasis, Aminoaciduria, Osteoarthritis ORPHA:56
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Preeclampsia
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Prote... ORPHA:275555
Lead Poisoning
Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial nephritis, Skin rash ORPHA:330015
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatocellular necrosis OMIM:251880
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremic syndrome, N... OMIM:277400
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine OMIM:615501
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Cocaine Intoxication
Tubulointerstitial nephritis, Colitis, Hematuria, Acute kidney injury, Glomerulonephritis, Protei... ORPHA:90068
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, ... ORPHA:411536
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Abnormal ... ORPHA:95455
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria OMIM:618811
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketonuria ORPHA:2089
Kanzaki Disease
Aminoaciduria, Increased urinary O-linked sialopeptides OMIM:609242
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria OMIM:239000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Patent ductus arteriosus, Albuminuria, Renal cortical microcysts, Am... OMIM:214100
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis, Neurogenic bladder OMIM:619218
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria OMIM:207900
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... ORPHA:358
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
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
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Argininemia
Oroticaciduria, Diaminoaciduria OMIM:207800
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Patent ductus arteriosus, Hy... OMIM:100100
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine OMIM:300539
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Recurrent otitis media OMIM:618494
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria OMIM:264700
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Propionic Acidemia
Increased level of hippuric acid in urine, Pancreatitis, Eczema, Hyperglycinuria OMIM:606054
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... ORPHA:79403
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Myh9-Related Disease
Renal insufficiency, Nephritis, Proteinuria, Nephropathy ORPHA:182050
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria OMIM:619055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... OMIM:613095
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Iridocyc... ORPHA:227990
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Renal insufficiency OMIM:611209
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Homocystinuria, Pancreatitis OMIM:236200
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:256100
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Proximal renal tubular acidosis... OMIM:229600
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Iridocyc... ORPHA:227982
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Glutaric Aciduria Iii
Glutaric aciduria OMIM:231690
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Barth Syndrome
3-Methylglutaconic aciduria, Organic aciduria OMIM:302060
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Interstitial Lung And Liver Disease
Aminoaciduria OMIM:615486
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Cranioectodermal Dysplasia 1
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting OMIM:218330
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Lysinuric Protein Intolerance
Pancreatitis, Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease OMIM:222700
X-Linked Intellectual Disability, Armfield Type
Galactosuria, Aminoaciduria, Organic aciduria, Patent ductus arteriosus ORPHA:85276
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Harderoporphyria
Increased urinary porphobilinogen, Increased urine harderoporphyrin level, Red urine OMIM:618892
Leigh Syndrome
Ethylmalonic aciduria, Eczema, Generalized aminoaciduria, Renal tubular dysfunction, Methylmaloni... ORPHA:506
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis OMIM:609757
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria ORPHA:289157
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Patent ductus arteriosus OMIM:179613
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Ketonuria OMIM:261680
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis OMIM:231530
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, 3-Methylglutaric aciduria, Organic ... OMIM:246450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Fetal megacystis, Hydroureter, Megacystis OMIM:619362
Cystinosis, Nephropathic
Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Stage 5 chronic k... OMIM:219800
Diabetic Embryopathy
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Hydronephrosis ORPHA:1926
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Hydronephrosis, Polycystic kidney dysplasia, Long-chain dicarboxylic acidur... OMIM:608836
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria OMIM:615751
Wolfram Syndrome 1
Hydronephrosis, Hydroureter, Neurogenic bladder OMIM:222300
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... ORPHA:2973
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Renal dysplasia, Nephritis, Pyelonephritis OMIM:314300
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Webb-Dattani Syndrome
Hydronephrosis, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Multiple Carboxylase Deficiency
Organic aciduria, Skin rash ORPHA:148
Hyperlysinemia
Argininuria, Cystinuria, Recurrent pneumonia, Hyperlysinuria, Decreased urine alpha-ketoglutarate... ORPHA:2203
Richards-Rundle Syndrome
Ketonuria OMIM:245100
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Organic aciduria, Perioral eczema ORPHA:79242
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria OMIM:210200
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary system, Abnormal localizati... ORPHA:1834
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Proximal renal tubular acidosis, Aminoaciduria, Protei... OMIM:309000
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Patent ductus arteriosus, Displacement of the urethral... ORPHA:3378
Orotic Aciduria
Hematuria, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Complex organic aciduria, 3-Methylglutaric aciduria OMIM:557000
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, ... OMIM:619355
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... ORPHA:416
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Abnormal renal medulla morphology, Glomerular scle... ORPHA:439232
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Sarcoidosis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Nephrocalcinosis, Bronchiectasis, Nephr... ORPHA:797
Glutaric Acidemia I
Glutaric aciduria, Ketonuria OMIM:231670
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Hydronephrosis, Urethral stenosis ORPHA:1727
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Aspiration pneumonia, Pancreatitis ORPHA:431361
Igg4-Related Aortitis
Increased inflammatory response, Hydronephrosis ORPHA:449400
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Glome... ORPHA:158684
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria ORPHA:395
Amish Lethal Microcephaly
Organic aciduria ORPHA:99742
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Patent ductus arteriosus, Vesicoure... ORPHA:391641
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Oculocerebrorenal Syndrome Of Lowe
Nephrocalcinosis, Chronic otitis media, Cheilitis, Hematuria, Nephrolithiasis, Proximal renal tub... ORPHA:534
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Hydronephrosis, Hydroureter OMIM:212093
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Thyroiditis, Tubulointerstitial nephritis, Myositis ORPHA:79078
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Lacticaciduria OMIM:245400
Retinal Venous Beading
Nephritis OMIM:180080
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... OMIM:137920
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu... ORPHA:93552
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Aspiration pneumonia, Lacticaciduria OMIM:619167
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Patent ductus arteriosus, Polycystic kidney dysplasia, Dilatati... ORPHA:314588
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Congenital megaureter, Hydronephrosis, Ureteral agenesis ORPHA:2437
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Visceral Myopathy 1
Hydronephrosis, Urinary retention, Megacystis, Pancreatitis, Vesicoureteral reflux OMIM:155310
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Hydronephrosis, Renal dysplasia, Unilateral renal agenesis, Polycystic k... ORPHA:2237
Xeroderma Pigmentosum
Aminoaciduria, Blepharitis, Keratitis ORPHA:910
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Multicystic kidney dysplasia, Abnormality of the ure... ORPHA:887
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Trisomy 17P
Urethral valve, Hydronephrosis, Urethral stenosis, Patent ductus arteriosus, Polycystic kidney dy... ORPHA:261290
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Micropenis, Hydronephrosis OMIM:616897
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Recurrent pneumonia OMIM:619179
Tarp Syndrome
Horseshoe kidney, Hydronephrosis OMIM:311900
Methylmalonic Aciduria, Cblb Type
Methylmalonic aciduria, Ketonuria OMIM:251110
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Renal cyst, Patent ductus arteriosus, Vesicoureteral reflux, Mi... OMIM:618454
Holocarboxylase Synthetase Deficiency
Organic aciduria, Skin rash OMIM:253270
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication, Patent ductus arteriosus OMIM:104350
Granulomatosis With Polyangiitis
Sinusitis, Hydronephrosis, Pericarditis, Prostatitis, Chronic otitis media, Hematuria, Pancreatit... ORPHA:900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hydronephrosis, Duplicated collecting system, Micropenis, Vesicoureteral reflux OMIM:301056
Al-Gazali Syndrome
Hydronephrosis, Recurrent pneumonia OMIM:609465
Simple Cryoglobulinemia
Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hypercellularity, Microscopic h... ORPHA:91139
Koolen-De Vries Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Renal duplication, Vesicoureteral reflux ORPHA:96169
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Elevated urinary epinephrine, Elevated urinary norepineph... OMIM:171400
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis ORPHA:1297
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:457193
Methylmalonic Aciduria, Cbla Type
Methylmalonic aciduria, Ketonuria OMIM:251100
Kleefstra Syndrome
Hypospadias, Hydronephrosis, Chronic otitis media, Renal cyst, Micropenis, Vesicoureteral reflux,... ORPHA:261494
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
Zellweger Syndrome
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis ORPHA:912
Microphthalmia, Lenz Type
Hypospadias, Renal hypoplasia/aplasia, Hydronephrosis, Hydroureter ORPHA:568
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Esophagitis, Duplicated collecting system ORPHA:541423
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
3C Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis ORPHA:7
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria OMIM:611126
Trisomy 20P
Hypospadias, Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Multiple... ORPHA:261318
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydronephrosis, Ureteral duplication, Renal dysplasia, Patent ductus arteriosus, Bladder trabecul... OMIM:614080
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia, Patent ductus arteriosus ORPHA:261344
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis ORPHA:2315
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal malrotation, Pelvic kidney, Patent duct... OMIM:601186
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Patent ... OMIM:617303
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Lacticaciduria, Glutaric aciduria, Polycystic kidney dysplasia, Acute panc... ORPHA:26791
Duane-Radial Ray Syndrome
Renal hypoplasia, Horseshoe kidney, Renal agenesis, Renal malrotation, Hydronephrosis, Crossed fu... OMIM:607323
Mckusick-Kaufman Syndrome
Hydronephrosis, Patent ductus arteriosus, Urogenital sinus anomaly, Renal hypoplasia/aplasia, Mul... ORPHA:2473
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus, Vesicoureteral reflux OMIM:618460
Baller-Gerold Syndrome
Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Erythroderma ORPHA:35173
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Nephrolithiasis, Functional abnormality of the bladder, Recurre... ORPHA:2953
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... OMIM:614527
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Ectopic kidney, Erysipelas OMIM:235510
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, 3-Methylglutaconic aciduria, Aciduria OMIM:203700
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Patent ductus arteriosus, Multiple renal cysts... ORPHA:99776
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Neurogenic bladder OMIM:608779
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Erythroderma OMIM:302960
Marden-Walker Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Abnormal penis morphology, Abnormality of the urinar... ORPHA:2461
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra... ORPHA:99885
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis, Patent ductus arteriosus OMIM:612541
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis OMIM:235255
15q26 overgrowth syndrome
Horseshoe kidney, Hydronephrosis, Renal agenesis, Duplication of renal pelvis, Polycystic kidney ... DECIPHER:81
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Erdheim-Chester Disease
Hydronephrosis, Dysuria, Osteomyelitis, Skin rash, Renal insufficiency ORPHA:35687
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Micropenis, Renal agenesis, Hydronephrosis OMIM:301040
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis OMIM:616737
Carpenter Syndrome 1
Hydronephrosis, Hydroureter, Patent ductus arteriosus OMIM:201000
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Bladder diverticulum OMIM:613177
Biotinidase Deficiency
Seborrheic dermatitis, Recurrent skin infections, Skin rash, Organic aciduria, Conjunctivitis OMIM:253260
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Infectious encephalitis, Recurrent urinary tract infections, Hypoplasia of penis,... ORPHA:847
Nijmegen Breakage Syndrome
Sinusitis, Hydronephrosis, Bronchiectasis, Recurrent urinary tract infections, Otitis media, Recu... OMIM:251260
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Urethral fistula, Absent peni... ORPHA:49
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Fryns Syndrome
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Vesicoureteral reflux ORPHA:2059
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Hydroureter, Polycystic kidney dysplasia OMIM:236700
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Micropenis, Hydronephrosis ORPHA:96092
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction OMIM:618975
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria ORPHA:404454
Congenital Disorder Of Glycosylation, Type It
Chronic hepatitis, Hydronephrosis, Hepatitis, Recurrent otitis media OMIM:614921
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Hydronephrosis, Patent ductus arteriosus OMIM:300968