Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tensin 1
Synonyms:
E030037J05Rik,  1200014E20Rik,  E030018G17Rik,  1110018I21Rik,  Tns

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 Tns1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tns1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Proteinuria, Mesangial hypercellularity, Steroid-resistant neph... OMIM:619201
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypertension, Stage 5 chronic kidney dis... OMIM:603965
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Hypogonadism, Renal insufficiency OMIM:615987
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Focal Segmental Glomerulosclerosis 5
Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Focal segmental... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Hypertension, Renal insufficiency, Focal segmental glomerulosclerosis OMIM:607832
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Renal dysplasia, R... OMIM:615993
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Pulmonary insufficiency, Chronic tu... OMIM:602088
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Anterior uveitis, Panuveitis, Re... OMIM:607665
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Renal tubular... OMIM:603860
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism OMIM:616629
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Nephronophthisis 16
Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polycystic kidney dysplasia, Ren... OMIM:615382
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Nephropathy... OMIM:137950
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Frasier Syndrome
Primary amenorrhea, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmen... OMIM:136680
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis OMIM:617056
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormal glomerular mesangium morphology, G... ORPHA:567544
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Renal tubular epithelial necrosis, ... ORPHA:228302
Frasier Syndrome
Nephrotic syndrome, Primary amenorrhea, Proteinuria, Glomerulopathy, Hypertension, Nephroblastoma... ORPHA:347
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Retinitis Pigmentosa 59
Micropenis, Hepatomegaly, Renal insufficiency OMIM:613861
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Hypogonadism, Renal insufficiency OMIM:618681
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatosplenomegaly, Gastrointestinal hemorrhage, Proteinuria, Congestive hear... ORPHA:85450
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Renal insufficiency ORPHA:2613
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Dilated cardiomyopathy, Nephrotic syndrome, IgA deposition in the gl... OMIM:616730
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Hepatomegaly, Chronic tubulointerstitial nephr... OMIM:614376
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hypertrophic cardiomyopathy OMIM:618250
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Rena... ORPHA:1909
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatomegaly, P... OMIM:263200
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Hypertension, Renal insufficiency, Stage 5 chronic... OMIM:161900
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Hepatomegaly, ... OMIM:231680
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Hypertensio... OMIM:601894
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Scl... ORPHA:93126
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Hypogonadism OMIM:615982
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Glomerular subendothelial electro... OMIM:609814
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Dilated cardiomyopathy, Nephrotic syndrome, IgA deposition in the gl... OMIM:618348
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Stage 5 chronic kidney ... OMIM:617575
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Arrhythmia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria,... ORPHA:157
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cerebellar hemorrhage, Tubulointerstitial nephritis, Hepatomegaly, Cardio... OMIM:251000
Aapoaiv Amyloidosis
Sinus bradycardia, Glomerular sclerosis, Atrial flutter, Proteinuria, Hypertrophic cardiomyopathy... ORPHA:439232
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Mpdu1-Cdg
Eczema, Renal cortical cysts ORPHA:79323
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... OMIM:613944
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Nephronophthisis
Renal insufficiency ORPHA:655
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Proteinuria, Mesangial hypercell... ORPHA:63
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Chronic kidney disease, Hypertension, Premature ovarian insuffici... ORPHA:3156
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Nephrotic syndrome, Hypertrophic cardiomyopathy, Recurrent myoglobinuria, H... OMIM:607426
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Arrhythmia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria,... ORPHA:228308
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Recurrent intrapulmonary hemorrhage, Myositis, Hematuria, Proteinuria, Congestive hear... ORPHA:183
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Hypertensio... OMIM:616818
Bardet-Biedl Syndrome 19
Hypogonadism, Renal insufficiency OMIM:615996
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Hypert... ORPHA:84090
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic sten... OMIM:615415
Trisomy X
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia ORPHA:3375
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Cardiac arrest, Infectious encephalitis, Interstitial pneumonitis, Tubulointe... ORPHA:139402
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency OMIM:256150
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Hepatomegaly, Abnormality of the kidney OMIM:613730
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Alstrom Syndrome
Dilated cardiomyopathy, Recurrent pneumonia, Irregular menstruation, Congestive heart failure, Tu... OMIM:203800
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Retinal hemorrhage, Hematuria, Nephropathy, Renal insufficiency, Raynaud phenomenon, ... OMIM:611773
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Hepatomegaly OMIM:614582
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephropathy, Renal interstitial i... ORPHA:449395
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Hepatosplenomegaly, Renal cortical microcysts, Splenomegaly, Hepatomegaly OMIM:614866
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Acrorenal Syndrome
Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:971
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Multiple renal cysts ORPHA:2924
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Tubulointerstitial nephrit... ORPHA:488627
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Acute kidney injury, P... ORPHA:329918
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... OMIM:161950
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Polyuria, Bronchiectasis, Renal insufficiency, Stage 5 chronic kidney di... OMIM:619468
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Renal duplication, Proteinuria, Arrhythmia, Tubulointerstitial nephrit... ORPHA:33001
Harrod Syndrome
Renal cortical microcysts, Hypospadias OMIM:601095
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Congestive heart failure, Hypertrophic cardiomyopathy, Glomerulopathy, H... ORPHA:225
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Lead Poisoning
Infertility, Abnormal sperm morphology, Renal tubular dysfunction, Decreased female libido, Skin ... ORPHA:330015
Storm Syndrome
Myxomatous mitral valve degeneration, Aortic valve stenosis, Mitral stenosis, Early progressive c... OMIM:185069
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Proteinuria, Hypertension, Hemate... ORPHA:340
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Hypertension, Nephroblastoma, Nephropathy, Stage... OMIM:194080
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Proteinuria, Congestive heart failure, ... OMIM:617303
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Ventricul... OMIM:614980
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Pancreatic hyperplasia,... OMIM:130650
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Sinus tachycardia, Elevated urinary dopamine, Hematuria, Proteinuria, Hyper... ORPHA:276621
C Syndrome
Renal cortical cysts, Hepatomegaly OMIM:211750
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Hypertension, Membranoproliferative glomerul... ORPHA:251004
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Glomerular sclerosis, Hepatosplenomegaly, Portal hypertension, Proteinuria, M... OMIM:619487
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Renal insufficiency ORPHA:254857
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Pulmonic stenosis, ... OMIM:610205
Amyloidosis, Finnish Type
Cardiomyopathy, Nephrotic syndrome, Renal insufficiency OMIM:105120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Renal tubular atrophy, Nephritis, Nephropathy, Renal insuff... OMIM:162000
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Renal cortical cysts, Renal cyst ORPHA:1692
Joubert Syndrome 20
Renal cyst OMIM:614970
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hematuria, Acute kidney injury, Proteinuria, Colitis, G... ORPHA:90068
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Gastrointestinal... OMIM:276700
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Hypertension, Renal insufficienc... OMIM:613095
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Senior-Loken Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Proteinuria, Transient ischemic attack, Hypertension, Renal insufficiency, Ce... OMIM:242900
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Crystalluria, Renal insuffi... ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Nephrolithiasis, Hematuria, Renal insufficiency OMIM:614723
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Recurrent aspiration pneumonia, Renal dysplasia, Hyperechogenic kidneys, Re... ORPHA:397715
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Renal insufficiency, Mitral regurgitation, Hepatic cysts OMIM:173900
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Pancreatic cysts, Hepatomegaly, Polycystic kidney dysplasia, R... OMIM:208540
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Gastrointestinal hemorrhage, Pneumonia, Proteinuria, Telangiectasia, Retina... ORPHA:247691
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Hepatomegaly, Renal dysplasia, Nephropathy, Nephronop... OMIM:266920
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Liddle Syndrome
Arrhythmia, Hypertension, Nephropathy, Renal insufficiency, Cerebral ischemia ORPHA:526
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Nephrotic syndrome, Recurrent skin infections, Pneumonia, Colitis, Interstitial pneumon... ORPHA:37042
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Dysuria, Macroscopic hematuria, Nephropathy, Renal insufficiency, Gout, Uric... ORPHA:79233
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Chronic kidney disease, Macroscopic hematuria, Albuminuria, Hypertension, Mic... ORPHA:567546
Hypoplastic Left Heart Syndrome
Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral atresia ORPHA:2248
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Hypogonadism, Renal insufficiency ORPHA:281090
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Orthostatic hypotension, Hydronephrosis, Vesicoureteral reflux, Recurrent urinary tract infection... OMIM:191800
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Renal cell carcinoma OMIM:135150
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Hypertension, Renal ins... ORPHA:2704
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Hepatomegaly, Renal dysplasia, Cardiomyopat... OMIM:614922
Myh9-Related Disease
Proteinuria, Menorrhagia, Myocardial infarction, Spontaneous, recurrent epistaxis, Nephritis, Nep... ORPHA:182050
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Enlarged kidney, Hepatosplenomegaly, Pancreatic cysts, Splenomegaly, ... ORPHA:464329
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Ureteral duplication, Arrhythmia, Hydronephrosis, Hepato... OMIM:608836
Megabladder, Congenital
Multiple glomerular cysts, Left ventricular noncompaction cardiomyopathy, Hyperechogenic kidneys,... OMIM:618719
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency ORPHA:890
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Hy... OMIM:203780
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Vasculitis, Renal insufficiency, Arthritis ORPHA:375
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Acute kidney injury, Hematuria, Proteinuria, Myocardial infarction, Renal insufficiency ORPHA:54057
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Sinus tachycardia, Elevated urinary dopamine, Hematuria, Proteinuria, Hyper... ORPHA:29072
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Recurrent pancreatitis, Renal cortical adenoma, Polycystic kidney dysplasia, Pap... OMIM:145001
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Renal hypoplasia/aplasia, Multiple renal cysts ORPHA:1166
Schimke Immuno-Osseous Dysplasia
Proteinuria, Congestive heart failure, Pulmonary arterial hypertension, Transient ischemic attack... ORPHA:1830
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Hypertension,... OMIM:617729
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Prune Belly Syndrome
Abnormality of the ureter, Renal insufficiency, Multicystic kidney dysplasia, Congenital posterio... ORPHA:2970
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Gitelman Syndrome
Proteinuria, Hashimoto thyroiditis, Renal tubular acidosis, Ventricular fibrillation, Enuresis, P... ORPHA:358
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Bronchiectasis, Rheumatoid arthritis, Eczema, Keratoconjunctivitis... ORPHA:79128
Nephronophthisis 4
Stage 5 chronic kidney disease, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Ren... OMIM:606966
Preeclampsia
Elevated systolic blood pressure, Polycystic ovaries, Acute kidney injury, Proteinuria, Elevated ... ORPHA:275555
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Axial Osteomalacia
Renal cyst OMIM:109130
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Amenorrhea, Chronic rhinitis, Micropenis, Azoospermia, Abnor... ORPHA:168569
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Renal dysplasia, Ureteral agenesis OMIM:236500
Lesch-Nyhan Syndrome
Gout, Hematuria, Renal insufficiency ORPHA:510
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Glomerular sclerosis, Hypertension, Abnormal renal physiology, Tachycardia OMIM:223900
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Cholangitis OMIM:124000
Hypouricemia, Renal, 1
Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Increased urinary urate, Acute kidn... OMIM:220150
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Nephronophthis... OMIM:614377
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Vasculitis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:2668
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Hepatomegaly, Aminoaciduria, Albuminuria, Hypospadias OMIM:214100
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Stage 5 chronic kidney disease, Hypogonadism OMIM:615994
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Irregular menstruation, Nephrolithiasis, Polycystic ovaries, P... ORPHA:79259
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Hypertension, Renal insufficiency, Stage 5 chronic kidney d... OMIM:166300
Hypervitaminosis A, Susceptibility To
Renal insufficiency OMIM:240150
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Gout, Hypertension, Renal insufficiency, Stage 5 chronic ki... OMIM:618061
Glycogen Storage Disease Ic
Spider hemangioma, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly, Ch... OMIM:232240
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Malaria
Acute kidney injury ORPHA:673
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Hydronephrosis, Renal cyst, Renal dysplasia OMIM:615287
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency OMIM:603592
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency ORPHA:28
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Oroticaciduria, Hepatosplenomegaly, Hyperlysinuria, Proteinuria... ORPHA:470
Laurence-Moon Syndrome
Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Rhyns Syndrome
Nephronophthisis, Chronic kidney disease, Renal insufficiency OMIM:602152
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Crystalluria, Renal insufficiency, Gout, Uric acid nephroli... ORPHA:411543
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hypertrophic cardiomyopathy, Aminoaciduria, Pancreatitis, Renal insufficiency OMIM:619386
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency OMIM:613388
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Pneumonia, Micropenis OMIM:300209
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Beta 2-microglobulinuria, Sterile pyuria, Decre... ORPHA:91500
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Primary amenorrhea, Hematuria, Proteinuria, Distal renal tu... OMIM:146255
Familial Isolated Hyperparathyroidism
Hypercalciuria, Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency ORPHA:99879
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Hepatosplenomegaly, Hemolytic-uremic syndrome, Maculopap... OMIM:619644
Fechtner syndrome
Hematuria, Proteinuria, Menorrhagia, Nephritis, Stage 5 chronic kidney disease OMIM:153640
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Hyperuricemia, Hprt-Related
Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia, Renal insufficiency ORPHA:3222
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614862
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Aortic regurgitation, Hepatomegaly, Pulmonic stenosis, Galactosuria, H... OMIM:222470
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension, Hypogonadism... ORPHA:110
Primary Sjögren Syndrome
Optic neuritis, Myositis, Erythema nodosum, Parotitis, Chronic hepatitis, Abnormality of the kidn... ORPHA:289390
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Telangiectasia of the skin, Nephroblastoma, Seborrheic dermatitis, Ovarian serou... ORPHA:276280
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... ORPHA:94088
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Iridocyclitis, Rheumatoid arthritis, Keratoconjunctivitis sicca, He... ORPHA:227990
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Transketolase Deficiency
Renal cyst, Uveitis, Hepatomegaly, Secondary amenorrhea, Seborrheic dermatitis, Increased level o... ORPHA:488618
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Stag... ORPHA:650
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Nephronophthisis-Like Nephropathy 1
Stage 5 chronic kidney disease, Pancreatic cysts, Chronic pancreatitis, Tubular basement membrane... OMIM:613159
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Portal hypertension, Multi... OMIM:216360
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Congestive heart failure, U... ORPHA:505248
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidney disease, ... OMIM:300554
Babesiosis
Congestive heart failure, Splenomegaly, Hepatomegaly, Myocardial infarction, Renal insufficiency ORPHA:108
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease, Splenomegaly, Hepatomegaly OMIM:616217
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Nephroblastoma, Nephropathy, Renal insufficiency, Streak ovary, Hypospadias OMIM:194072
Muckle-Wells Syndrome
Maculopapular exanthema, Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, C... OMIM:191900
Cryoglobulinemic Vasculitis
Viral hepatitis, Gastrointestinal hemorrhage, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly,... ORPHA:91138
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria OMIM:300661
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Recurrent pneumonia, Reduced renal corticomedullary differentiation, H... ORPHA:731
Cystinuria
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Autoimmune Polyendocrinopathy Type 3
Hashimoto thyroiditis, Tubulointerstitial nephritis, Iridocyclitis, Rheumatoid arthritis, Keratoc... ORPHA:227982
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Galactosemia
Decreased fertility, Primary amenorrhea, Hepatomegaly, Secondary amenorrhea, Renal insufficiency,... ORPHA:352
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Nephronophthisis 11
Stage 5 chronic kidney disease, Polyuria, Tubular basement membrane disintegration, Renal tubular... OMIM:613550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Renal tubular dysfunction, Renal insufficiency ORPHA:289916
Joubert Syndrome 14
Renal cyst, Hypertension OMIM:614424
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Alg1-Cdg
Cardiomyopathy, Abnormality of the kidney, Nephrotic syndrome, Renal insufficiency ORPHA:79327
Wild Type Attr Amyloidosis
Nephrotic syndrome, Arrhythmia, Proteinuria, Congestive heart failure, Abnormal EKG, Hypertrophic... ORPHA:330001
Melas
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Proteinuria, Proxi... ORPHA:550
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Renal insufficiency OMIM:611209
Microscopic Polyangiitis
Oliguria, Sinusitis, Uveitis, Gastrointestinal hemorrhage, Hematuria, Arrhythmia, Congestive hear... ORPHA:727
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency, Impaired renal concentrating ability OMIM:204690
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Renal insuffic... OMIM:134600
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Hypertension, Stage 5 chroni... OMIM:618913
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Cardiomyopathy, Renal insufficiency ORPHA:445038
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Simple Cryoglobulinemia
Raynaud phenomenon, Viral hepatitis, Nephrotic syndrome, Gastrointestinal hemorrhage, Proteinuria... ORPHA:91139
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Abnormal urine sodium concentration, Hypertension, Renal insufficiency, Left ve... ORPHA:320
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:251300
Bardet-Biedl Syndrome 9
Irregular menstruation, Renal insufficiency OMIM:615986
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatomegaly, Chronic kidney disease, Renal magnesium wasting, Hepa... OMIM:218330
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Hypoplasia of penis, Telangiectasia of the skin, Renal dysplasia, Renal insuffi... ORPHA:85321
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Hypertension, Re... ORPHA:3027
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Cardiomyopathy, Pancreatitis, Renal insufficiency ORPHA:79312
Transcobalamin Deficiency
Methylmalonic aciduria, Acute kidney injury ORPHA:859
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia OMIM:608776
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Nephrotic syndrome, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Recur... OMIM:615559
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:35710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Nephrocalcinosis, Renal cyst, Hypercalciuria, Restrictive cardiomyopathy OMIM:615398
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Bifid ureter, Horseshoe kidney, Decrea... OMIM:617641
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Hepatomegaly OMIM:607361
Hypocomplementemic Urticarial Vasculitis
Uveitis, Hematuria, Proteinuria, Arthritis, Inflammatory abnormality of the eye, Splenomegaly, He... ORPHA:36412
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Abnormali... ORPHA:1834
Atresia Of Urethra
Pulmonary insufficiency, Hydronephrosis, Dilatation of the bladder, Patent urachus, Megacystis, R... ORPHA:105
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Abnormal renal insterstitial ... ORPHA:84081
Hypomagnesemia 3, Renal
Renal tubular acidosis, Nephrocalcinosis, Hypermagnesiuria, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Arrhythmia, Hypotension, Myocarditis, Pancreatitis, R... ORPHA:188
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multiple glomerular cysts, Pancreatic cysts, Portal hypertension, Multicystic... OMIM:267010
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Renal hypoplasia/aplasia, Polycystic kidney dysplasia ORPHA:1988
Nephrogenic Diabetes Insipidus
Hydroureter, Hypovolemia, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria... ORPHA:223
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Abnormal renal glomerulus morphology, Telangiectasia of extensor surfaces... OMIM:137940
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Sarcoidosis
Nephrocalcinosis, Portal hypertension, Nephrolithiasis, Arrhythmia, Ventricular tachycardia, Hype... ORPHA:797
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Cardiomyopathy, Hepatomegaly, Renal insufficiency ORPHA:27
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Ren... OMIM:614748
Cryoglobulinemia, Familial Mixed
Hematuria, Proteinuria, Chronic kidney disease, Hypertension, Abnormal renal physiology OMIM:123550
Alagille Syndrome 1
Renal tubular acidosis, Multiple small medullary renal cysts, Renal hypoplasia, Renal dysplasia, ... OMIM:118450
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease, Hepatomegaly, Splenomegaly OMIM:615630
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy, Hepatomegaly, Cardiomyopathy, ... OMIM:212065
Meckel Syndrome, Type 4
Renal cyst, Meningocele OMIM:611134
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Congestive heart failure, Telangiectasia of the skin, Hypertensive crisis, Pulmonary ar... ORPHA:220393
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Unilateral renal atrophy, Oligospermia, Renal dysplasia, Nephritis OMIM:314300
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Bicuspid aortic valve, Sho... OMIM:314400
Scrub Typhus
Infectious encephalitis, Hypotension, Splenomegaly, Myocarditis, Renal insufficiency, Anterior uv... ORPHA:83317
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Acute kidney injury, Chronic kidney dise... ORPHA:284426
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hematuria, Atrioventricular block, Renal insufficiency, Intermittent claudicati... OMIM:259900
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Hypertrophic cardiomyopathy, Chronic kidney disease, Dark urine, Recurrent m... ORPHA:368
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:261265
Variant Abeta2M Amyloidosis
Reduced ejection fraction, Chronic kidney disease, Renal amyloidosis ORPHA:314652
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Hydronephrosis, Hepatomegaly, Abnormal renal artery morphol... ORPHA:79328
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Dysuria, Decreased glomerular filtration rate, Enur... ORPHA:93598
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Arthritis, Multicy... ORPHA:93111
Pediatric Systemic Lupus Erythematosus
Myositis, Nephrotic syndrome, Hematuria, Proteinuria, Nephritis, Abnormality of the urinary syste... ORPHA:93552
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma ORPHA:500095
Genetic Recurrent Myoglobinuria
Oliguria, Myositis, Arrhythmia, Acute kidney injury, Recurrent myoglobinuria, Dark urine, Renal i... ORPHA:99845
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury ORPHA:140896
Mass Syndrome
Mitral valve prolapse OMIM:604308
Nephropathy, Deafness, And Hyperparathyroidism
Nephropathy, Renal insufficiency OMIM:256120
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Displacement of the ureth... ORPHA:2973
Cystic Echinococcosis
Renal cyst, Hepatomegaly, Ovarian cyst, Membranous nephropathy, Hepatic cysts ORPHA:400
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Hypomagnesemia 2, Renal
Renal magnesium wasting, Hypocalciuria, Renal insufficiency OMIM:154020
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Renal cyst, Hepatomegaly, Dark urine ORPHA:79303
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Tricuspid valve prolapse, Mitral stenosis, Mitral valve ... OMIM:212093
Hyperprolinemia Type 2
Prolinuria, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria, Renal insuffici... ORPHA:79101
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Hypertension OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Hypertension OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Hypertension OMIM:612926
Fabry Disease
Arrhythmia, Proteinuria, Congestive heart failure, Myocardial infarction, Urinary mulberry cells,... OMIM:301500
Cystinosis
Portal hypertension, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropathy, Renal in... ORPHA:213
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Renal cyst, Horseshoe kidney ORPHA:166035
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Mitral valve prolapse, Pulmonic stenosis, Abnormal heart valve morphology ORPHA:228410
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Campomelia, Cumming Type
Multicystic kidney dysplasia, Hepatomegaly, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Miscarriage, Renal dysplasia, Renal insufficiency, Premature ovarian insufficiency, Hypo... ORPHA:96179
Arima Syndrome
Occipital meningocele, Stage 5 chronic kidney disease, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:243910
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Intermittent claud... ORPHA:416
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Horseshoe kidney, Hepatic cysts OMIM:612284
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst, Conjunctivitis OMIM:615560
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Sickle Cell Anemia
Priapism, Hematuria, Splenomegaly, Hepatomegaly, Hypertension, Renal insufficiency, Cardiomegaly OMIM:603903
Enamel-Renal Syndrome
Nephrocalcinosis, Enuresis, Hypocalciuria, Nephropathy, Renal insufficiency, Impaired renal conce... ORPHA:1031
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Infectious encephalitis, Peritonitis, ... ORPHA:36234
Legionnaires Disease
Arrhythmia, Hematuria, Proteinuria, Infectious encephalitis, Endocarditis, Splenomegaly, Hypotens... ORPHA:549
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Peutz-Jeghers Syndrome
Abnormality of the ureter, Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Renal cell c... ORPHA:2869
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Boutonneuse Fever
Maculopapular exanthema, Vasculitis, Skin rash, Renal insufficiency ORPHA:83313
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pulmonary insufficiency, Pancreatic cysts, Proteinuria, Chronic kidney disease, Nephr... OMIM:208500
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Renal insufficiency ORPHA:313
Hand-Foot-Genital Syndrome
Pyelonephritis, Chordee, Micropenis, Hypospadias, Ureteropelvic junction obstruction, Renal insuf... OMIM:140000
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Brachymesomelia-Renal Syndrome
Renal insufficiency OMIM:113470
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Displacement of the urethral meatus, Multiple renal cysts ORPHA:3378
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Polycystic kidney dysplasia, Renal dysplasia, Renal steatosis,... OMIM:113650
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia, Mitral stenosis OMIM:617260
Exstrophy-Epispadias Complex
Male sexual dysfunction, Abnormality of the ureter, Horseshoe kidney, Bifid penis, Bladder fistul... ORPHA:322
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Nephrolithiasis, Ureteral duplication, Hypercalciuria, Hyp... ORPHA:116
Mody
Glycosuria, Renal cyst, Abnormality of the kidney, Nephropathy ORPHA:552
Snakebite Envenomation
Acute kidney injury, Cardiogenic shock, Hypotension, Myocardial infarction, Cerebral ischemia, Ta... ORPHA:449285
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency ORPHA:1563
Pseudo-Torch Syndrome 3
Lymphadenitis, Acute kidney injury, Proteinuria, Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypercalciuria, Hypertrophic cardiomyopathy, Long penis, Enlar... ORPHA:508
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Pulmonary arterial hypertensio... OMIM:613845
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Proteinuria, Hydronephrosis, Prostatitis, Hypertension, Otitis media... ORPHA:900
Al Amyloidosis
Nephrotic syndrome, Gastrointestinal hemorrhage, Arrhythmia, Proteinuria, Jaw claudication, Abnor... ORPHA:85443
Meningococcal Meningitis