banner
Genes Phenotypes Help, News, Blog

Gene: Tns1 MGI:104552

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... OMIM:602088
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... OMIM:615993
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys... OMIM:615382
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re... OMIM:603278
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Tubular luminal... OMIM:619902
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... OMIM:136680
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... ORPHA:347
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... ORPHA:1909
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Abnormality of the kidney, Renal cyst OMIM:615982
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr... OMIM:617575
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts ORPHA:3033
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nephronophthisis
Renal insufficiency ORPHA:655
Senior-Loken Syndrome
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Hyperten... ORPHA:3156
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Dilated card... OMIM:618348
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Erythroderma OMIM:609180
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Mpdu1-Cdg
Eczema, Renal cortical cysts ORPHA:79323
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Red-brown ur... ORPHA:228308
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Trisomy X
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia ORPHA:3375
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... ORPHA:183
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubu... OMIM:251000
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tub... ORPHA:139402
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Lead Poisoning
Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Chronic kidney disease, O... ORPHA:330015
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c... OMIM:611773
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hypergonadotropic hypogonadism, Cong... OMIM:203800
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... ORPHA:79147
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency OMIM:256150
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:614582
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Nephrotic syndrome, Focal s... OMIM:607426
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Hypertension, Polycysti... OMIM:618061
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Multiple renal cysts ORPHA:2924
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Bronchiec... OMIM:619468
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... OMIM:130650
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... ORPHA:225
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
C Syndrome
Cryptorchidism, Renal cortical cysts, Hepatomegaly OMIM:211750
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Joubert Syndrome 20
Renal cyst OMIM:614970
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis, Abnormality of the kidney ORPHA:459061
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Fanconi Anemia, Complementation Group O
Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:615996
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:276621
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hypertensio... OMIM:232200
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Pericarditis,... OMIM:619487
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Recurrent pneumonia, Nephrotic... OMIM:617303
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopath... OMIM:615415
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency, Cardiomyopathy OMIM:105120
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Renal insufficiency ORPHA:254857
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... ORPHA:251004
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Recurrent aspirat... ORPHA:397715
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi... OMIM:232220
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Raynaud phenomenon, Punctate vasc... ORPHA:247691
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria OMIM:603592
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Liddle Syndrome
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... OMIM:191800
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Megabladder, Congenital
Multiple glomerular cysts, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney ... OMIM:618719
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency ORPHA:890
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:29072
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep... ORPHA:411536
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Menorr... ORPHA:182050
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Arthritis ORPHA:375
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... ORPHA:97362
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Transient ischemic attack, Bilateral cryptorchidism, Stage 5 ch... OMIM:242900
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts,... OMIM:214100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Hypospadias, Cryptorchidism, Splenom... OMIM:614866
Schimke Immuno-Osseous Dysplasia
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... ORPHA:1830
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury ORPHA:54057
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Pancreatic cysts, Splenome... OMIM:208540
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly,... ORPHA:464329
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, M... OMIM:276700
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... ORPHA:158684
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycystic kidney dyspla... OMIM:145001
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism ORPHA:2377
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... ORPHA:358
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure... ORPHA:275555
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout ORPHA:510
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Axial Osteomalacia
Renal cyst OMIM:109130
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney dis... OMIM:613095
H Syndrome
Psoriasiform dermatitis, Abnormality of the kidney, Abnormal cardiovascular system physiology, Br... ORPHA:168569
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Keratoconjunctivitis sicca, ... ORPHA:79128
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono... OMIM:616217
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Lysinuric Protein Intolerance
Hepatomegaly, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Hepatosplenomegaly, Tub... ORPHA:470
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Malaria
Acute kidney injury ORPHA:673
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency ORPHA:28
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... OMIM:166300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Epistaxis, Enterocolitis, Thyroiditis, Irregular menstruation, Nephrol... ORPHA:79259
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Gout, He... OMIM:232240
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal neutrophilic t... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... OMIM:614922
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... ORPHA:79233
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... ORPHA:3467
Igg4-Related Retroperitoneal Fibrosis
Large vessel vasculitis, Retrograde ejaculation, Hashimoto thyroiditis, Psoriasiform dermatitis, ... ORPHA:49041
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypertensi... ORPHA:110
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Aminoaciduria, Hypertrophic cardiomyopathy, Pancreatitis OMIM:619386
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, A... ORPHA:411543
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Nephrolithiasis, Hyperuricosuria OMIM:300323
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... OMIM:619644
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Renal insufficiency, Arrhythmia, Cardiomyopathy ORPHA:3222
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... OMIM:146255
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Hypospadias, Splenomegaly, Galactosuria, Pulmonic stenosis, R... OMIM:222470
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Seborrheic dermatitis, Hydrocele testis, Nephroblastoma, Ovarian sero... ORPHA:276280
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Conjunctivitis, Renal amyloidosis, Recurrent aphtho... OMIM:191900
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k... ORPHA:289390
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Nephropathy, Nephroblastoma OMIM:194072
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull... OMIM:216360
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Chronic mucocutaneo... ORPHA:227990
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Secondary amenorrhea, Uv... ORPHA:488618
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Cardiomyopathy ORPHA:79327
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Vira... ORPHA:91138
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Chronic mucocutaneo... ORPHA:227982
Babesiosis
Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Congestive heart failure ORPHA:108
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hepatomegaly, Renal insufficiency, Pancreatitis ORPHA:289916
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... ORPHA:3027
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Proximal tubulopathy, Renal cyst OMIM:602579
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Cholangitis... ORPHA:731
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Cryptorchidism, Renal hypop... ORPHA:85321
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Melas
Wolff-Parkinson-White syndrome, Proteinuria, Hypogonadotropic hypogonadism, Cardiac conduction ab... ORPHA:550
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Nephronophthisis OMIM:602152
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Cranioectodermal Dysplasia 1
Hepatomegaly, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tu... OMIM:218330
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... ORPHA:320
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria ORPHA:445038
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Sinusitis, Epista... ORPHA:727
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Cardiomyopathy, Pancreatitis ORPHA:79312
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... ORPHA:1988
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... OMIM:618913
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Enlarged kidney, Unilateral renal agenesis OMIM:618188
Bardet-Biedl Syndrome 9
Renal insufficiency, Irregular menstruation OMIM:615986
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... ORPHA:411709
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Stage 5 chronic kidney disease, H... OMIM:615559
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... ORPHA:84081
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Pancreatitis, ... ORPHA:188
Sarcoidosis
Hepatomegaly, Renal insufficiency, Abnormal cardiac ventricular function, Maculopapular exanthema... ORPHA:797
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Splenome... ORPHA:36412
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... ORPHA:223
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria, Cardiomyopathy ORPHA:324525
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... OMIM:267010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Hepatomegaly, Chronic kidney disease, Nephronophthisis OMIM:615630
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ... ORPHA:368
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... OMIM:314300
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Renal insufficiency, Pancreatitis, Hepatomegaly ORPHA:27
Hyperprolinemia Type 2
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, H... ORPHA:400
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Heart murmur, Renal cyst, Horseshoe kidney ORPHA:166035
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria,... ORPHA:220393
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent otitis media, Eczema OMIM:619774
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom... OMIM:615398
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... ORPHA:93111
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Chronic kidney disease, Renal amyloidosis ORPHA:314652
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infecti... ORPHA:83317
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Giant cell hepatitis, Renal cyst ORPHA:79303
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:228410
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury ORPHA:140896
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Chor... ORPHA:96179
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612926
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu... ORPHA:93552
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial... OMIM:259900
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Recurre... OMIM:252500
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Hypertrophic cardiomyop... OMIM:124000
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Mass Syndrome
Mitral valve prolapse OMIM:604308
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria OMIM:154020
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst, Hepatomegaly OMIM:601539
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Tricuspid regurgitation, Ureteral hypoplasia, Hepatic cy... ORPHA:79328
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Campomelia, Cumming Type
Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri... ORPHA:416
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Renal cyst OMIM:615560
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Genitopalatocardiac Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Chronic otitis media, Rena... ORPHA:261494
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Erythroderma ORPHA:313
Boutonneuse Fever
Skin rash, Renal insufficiency, Vasculitis, Maculopapular exanthema ORPHA:83313
Bacterial Toxic-Shock Syndrome
Shock, Recurrent urinary tract infections, Renal insufficiency, Tachycardia, Glomerulonephritis, ... ORPHA:36234
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... ORPHA:314588
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c... ORPHA:2869
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Pulmonary... OMIM:208500
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Abnorm... ORPHA:85443
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Renal cyst OMIM:614424
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Splenomegaly, Hepatitis, Endocarditi... ORPHA:549
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Nephrolithiasis, ... ORPHA:116
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Nephrolithiasis... ORPHA:99880
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypog... OMIM:212065
Exstrophy-Epispadias Complex
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... ORPHA:322
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Aortic valve... ORPHA:261290
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Hypertension, Acute kidney injury OMIM:618886
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Nephrolithiasis... ORPHA:143
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Systolic heart murmur, Renal cyst OMIM:617478
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Vasculitis, Pro... ORPHA:900
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency ORPHA:1563
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Trisomy 1Q
Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Meningococcal Meningitis
Shock, Renal insufficiency, Skin rash, Hypotension, Infectious encephalitis ORPHA:33475
Ogden Syndrome
Global glomerulosclerosis, Eczema, Cardiomegaly, Cryptorchidism, Ventricular tachycardia, Prematu... OMIM:300855
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Congestive heart failure, Lacticaciduria, Ca... ORPHA:26791
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Polycys... ORPHA:2237
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Ri... ORPHA:90291
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury, Arrhythmia ORPHA:57
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca ORPHA:79078
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Horseshoe ki... ORPHA:391641
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... OMIM:613845
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension, Priapism OMIM:603903
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia, Hepatomegaly OMIM:214110
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Microp... OMIM:617159
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Helix Syndrome
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria OMIM:617671
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, C... ORPHA:31826
Refsum Disease
Heart block, Cardiomyopathy, Renal insufficiency, Splenomegaly ORPHA:773
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Reduced lef... ORPHA:542323
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis OMIM:217090
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis ORPHA:912
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... ORPHA:761
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Hepatitis, Portal hypertension, Abnormal renal tubule morphology ORPHA:440713
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Splenomegal... ORPHA:1454
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Left ventricular hyp... OMIM:611209
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephr... OMIM:614034
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Pulmonic s... OMIM:257300
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Testi... ORPHA:764
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Pulmonic stenosis, Mitral stenosis,... OMIM:306955
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Gout, Hyperuricosuria, Uric acid ... OMIM:300661
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral re... ORPHA:96147
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesi... ORPHA:140952
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland... ORPHA:2473
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Renal dysplasia, Renal cyst OMIM:617260
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Cryptorchidism, Heart murmur, Enuresis nocturna, Mitral regur... OMIM:615873
Relapsing Fever
Tachycardia, Epistaxis, Hematuria, Abnormality of the urinary system, Hypotension, Acute kidney i... ORPHA:91547
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Renal insufficiency, Dysuria, Myocardial infarction, Su... ORPHA:36426
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplant... ORPHA:247353
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia ORPHA:3301
Genitopatellar Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Polycys... OMIM:610199
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Dysuria, Skin rash, Congestive... ORPHA:35687
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Vesicoureteral reflu... OMIM:618460
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Tricuspid regurgitation, Proteinuria, Focal segmental glomerulosclerosis, Mitral re... OMIM:619127
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid... OMIM:146510
Pseudo-Torch Syndrome 1
Splenomegaly, Hepatomegaly, Renal insufficiency OMIM:251290
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Cardiac-Urogenital Syndrome
Tachycardia, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus, ... OMIM:618280
Alveolar Echinococcosis
Cholangitis, Portal hypertension, Pancreatic cysts, Renal cyst, Budd-Chiari syndrome, Abnormal bl... ORPHA:284
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Inflammation of the large intestine... OMIM:203300
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Sp... OMIM:219800
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Xfe Progeroid Syndrome
Hypertension, Renal insufficiency, Premature ovarian insufficiency, Proteinuria OMIM:610965
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Telangiectasia, Chordee, Micropenis OMIM:300519
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Re... OMIM:613254
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pulmonary arte... OMIM:618454
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Mercury Poisoning
Tachycardia, Hypertension, Interstitial pneumonitis, Hypotension, Acute kidney injury ORPHA:330021
Von Hippel-Lindau Syndrome
Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Eczema, Nephroblastoma ORPHA:1001
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop... ORPHA:324
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V... OMIM:122470
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Tachycardia, Dysuria, Urinary incontinence, Porphyrinuria, Incre... ORPHA:79276
Central Core Disease
Mitral valve prolapse ORPHA:597
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Aortic ... ORPHA:464311
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Hydronephrosis, Mitral regurgitation, Hypogon... ORPHA:261349
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Hematuria, Arthri... ORPHA:397
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... ORPHA:117
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormality of the kid... ORPHA:1764
Uremic Pruritus
Inflammatory abnormality of the skin, Chronic kidney disease, Recurrent skin infections, Stage 5 ... ORPHA:94059
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse OMIM:609008
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Rena... ORPHA:99776
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Cheilitis, Eosinophil... ORPHA:293173
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Bartter Syndrome Type 4
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... ORPHA:89938
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Wolcott-Rallison Syndrome
Hepatomegaly, Renal insufficiency, Chronic kidney disease ORPHA:1667
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hypospadias, Eczema, Unilateral renal agenesis, Cryptorchidism, Renal cyst,... ORPHA:464306
Colchicine Poisoning
Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, Hypotension, C... ORPHA:31824
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Abnor... ORPHA:892
Porphyria Variegata
Neurogenic bladder, Tachycardia, Chronic kidney disease, Porphyrinuria, Increased urinary porphob... ORPHA:79473
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Renal cyst OMIM:616300
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Castleman Disease
Hematuria, Restrictive cardiomyopathy, Renal insufficiency, Ureteral obstruction ORPHA:160
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog... ORPHA:2847
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Congestive heart failu... ORPHA:33226
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis,... ORPHA:319213
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Chronic sinusitis, Renal cyst OMIM:615636
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Uveitis, Hypertension, Conjunctiv... ORPHA:90321
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Stage 5 chronic kidney disease... OMIM:266920
Mitochondrial Complex I Deficiency, Nuclear Type 29
Palpitations, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury OMIM:235400
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Nephrotic syndrome, Malar ra... OMIM:603909
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease OMIM:620366
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Cryptorchidism, Splenomegaly, Renal cyst, Duplication of renal pelvis,... OMIM:312870
Arteriosclerosis, Severe Juvenile
Hypertension, Chronic kidney disease, Myocardial infarction OMIM:208060
Acute Adrenal Insufficiency
Renal insufficiency, Decreased female libido, Orthostatic hypotension, Myocardial infarction, Dec... ORPHA:95409
Shigellosis
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Uveitis, Ulcerative c... ORPHA:810
Avian Influenza
Pneumonia, Congestive heart failure, Hepatitis, Conjunctivitis, Acute kidney injury, Infectious e... ORPHA:454836
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
D-Bifunctional Protein Deficiency
Splenomegaly, Hepatomegaly, Renal cyst OMIM:261515
Meckel Syndrome 14
Mitral regurgitation, Tricuspid regurgitation, Polycystic kidney dysplasia OMIM:619879
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... ORPHA:537
Cholera
Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Hypotension, Aspiration pneumonia... ORPHA:173
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Spondyloenchondrodysplasia
Proteinuria, Pneumonia, Skin rash, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hepati... ORPHA:1855
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Stage 5 chronic kidney disease OMIM:614378
Cockayne Syndrome Type 3
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Chronic kidney disease ORPHA:469
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Renal insufficiency OMIM:226980
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... ORPHA:447
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... ORPHA:2538
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Renal insufficiency, Premature ovarian insufficiency, Gastritis, Glomerulonephritis... ORPHA:3261
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Aspira... ORPHA:1018
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Caroli Disease
Hepatomegaly, Cholangitis, Portal hypertension, Splenomegaly, Polycystic kidney dysplasia ORPHA:53035
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy... ORPHA:538
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Menometrorrhagia, Epistaxis, Cardiomyopathy ORPHA:79430
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Stage 5 chronic kidney disease, ... OMIM:249100
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Hajdu-Cheney Syndrome
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Serotonin Syndrome
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:43116
Pagod Syndrome
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Arrhythmia, Abnorma... ORPHA:991
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Coccidioidomycosis
Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Skin rash... ORPHA:228123
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He... ORPHA:73263
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Di... ORPHA:79282
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Telangiectasia of the skin ORPHA:1556
Caroli Syndrome
Hepatomegaly, Abnormality of the kidney, Portal hypertension, Cholangitis, Hematemesis, Melena, P... ORPHA:480520
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Cryptorchidism, Hypospadias, Renal cyst OMIM:616975
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Premature ventricular contraction,... ORPHA:423
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... ORPHA:2044
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Cheilitis, Proteinuria, Cryptorchidism, Proximal renal tubul... ORPHA:534
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... OMIM:181270
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia/aplasia, Horseshoe kid... ORPHA:2092
Pearson Syndrome
Hepatomegaly, Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Splenomegaly, Lac... ORPHA:699
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hypertension, C... ORPHA:2750
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Oliguria, Enterocolitis, Bradycardia, Hypotension, Rever... ORPHA:90051
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... OMIM:301068
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery p... OMIM:619351
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... ORPHA:244242
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Keratoconjunctivitis sicca, Hypospadias, Renal cyst ORPHA:495875
Distal Deletion 12Q
Late onset atopic dermatitis, Unilateral cryptorchidism, Ectopic kidney, Congenital hypertrophy o... ORPHA:96149
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Gastritis, Splenomegaly, Renal hypoplasia, Colitis, Polycysti... ORPHA:84064
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Cryptorchidism, Renal cyst, Hydronephrosis OMIM:229850
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Recurrent pneumonia, Renal cyst, Hy... OMIM:613610
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis... ORPHA:2552
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy ORPHA:324604
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Hepatomegaly, Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Mitral valve prolapse ORPHA:2848
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena... OMIM:270400
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Gaucher Disease, Type Iiic
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly OMIM:231005
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Multiple Myeloma
Splenomegaly, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute kidney injury ORPHA:29073
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ... OMIM:102700
Au-Kline Syndrome
Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicourete... OMIM:616580
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Tricuspid regurgitation, Polycystic kidney dysplasia OMIM:263520
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... ORPHA:84
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Yellow Fever
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Skin rash, Supraventricular arrhythmia, H... ORPHA:99829
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, Atrial septal de... OMIM:612863
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:373
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Acute pancreatitis, Cardiac conduction abnormality, ... ORPHA:466677
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Irregular menstruat... OMIM:216400
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephro... ORPHA:798
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Stage 5 chronic kidney disease, Chronic hep... ORPHA:101330
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Hypertension, Ovarian cyst, Polycystic kidney dysplasia, Hepatic c... OMIM:311200
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Mitral stenosis, Cryptorchidism, Abnormal localization... ORPHA:1596
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Peritonitis, Hemoglobinuria, Hypertension, Acute kidney injury, Pa... ORPHA:90038
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Congestive heart failure, Myocarditis, Peritonit... ORPHA:533
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis ORPHA:449432
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Myositis, Raynaud phenomenon, ... ORPHA:3310
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hypertension, Bradycardia, Hy... ORPHA:94093
Eisenmenger Syndrome
Ventricular tachycardia, Bacterial endocarditis, Supraventricular tachycardia, Hepatomegaly, Tric... ORPHA:97214
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Cryptorchidism, Stage 2 chronic kidney dise... OMIM:620305
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythm... ORPHA:85448
Cap Myopathy
Mitral valve prolapse ORPHA:171881
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, Urethral at... ORPHA:564
Primary Sclerosing Cholangitis
Hepatomegaly, Renal insufficiency, Portal hypertension, Spider hemangioma, Congestive heart failu... ORPHA:171
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Chronic otitis media, Hydronep... ORPHA:1507
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia ORPHA:3103
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... ORPHA:371428
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral valve prolapse OMIM:258450
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... ORPHA:857
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... OMIM:616564
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Jacobsen Syndrome
Multicystic kidney dysplasia, Eczema, Cryptorchidism, Aortic valve stenosis, Hydronephrosis ORPHA:2308
Marburg Hemorrhagic Fever
Shock, Renal insufficiency, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Orchit... ORPHA:99826
African Trypanosomiasis
Abnormal EKG, Renal insufficiency, Pericarditis, Hepatomegaly, Urinary incontinence, Abnormality ... ORPHA:3385
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Dilated cardiomyopat... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy... OMIM:134780
Robinow Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Pulmonic stenosis, Webbed penis, Micropenis, Hydron... ORPHA:97360
Infection-Related Hemolytic Uremic Syndrome
Anuria, Acute colitis, Pneumonia, Myocarditis, Pancreatitis, Oliguria, Hypertension, Septic arthr... ORPHA:544482
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydron... ORPHA:93271
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Hypertension, Arrhy... OMIM:133540
C Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Abnormal tubulointerstitial morphology,... ORPHA:904
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse OMIM:264800
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Splenomegaly, Multiple renal cysts, Aortic valve stenosis, Periodontit... ORPHA:955
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease OMIM:608612
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast... ORPHA:509
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Acne, Seborrheic dermatitis, Cryptorchidism, Splenomega... ORPHA:567
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Cryptorchidism, R... OMIM:107480
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse OMIM:121050
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Cryptorchidism, Splenomegaly, Abnormality of the urete... OMIM:249000
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... ORPHA:818
Digeorge Syndrome
Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Splenomegaly, Recurr... OMIM:188400
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... ORPHA:500
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Abnormal cardiac ventricular function, Congestive heart failu... ORPHA:90349
Williams-Beuren Syndrome
Renal insufficiency, Recurrent urinary tract infections, Portal hypertension, Urethral stenosis, ... OMIM:194050
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Micropenis OMIM:210710
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Orotic... OMIM:222700
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Tachycardia, Hypospadias, Pneumonia, Bilateral ... OMIM:619488
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op... ORPHA:90340
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Left ventricular hypertrophy, Abnormal heart valve morphology, Mitral valve... ORPHA:230851
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Eczema, Ker... OMIM:308205
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... ORPHA:199
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis,... ORPHA:2298
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Pseudoxanthoma Elasticum, Forme Fruste
Mitral valve prolapse OMIM:177850
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,... ORPHA:2052
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Ulbright-Hodes Syndrome
Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Oliguria, ST segment depression, Hypotension, Abnormal ... ORPHA:466650
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Proteus Syndrome
Testicular neoplasm, Sudden cardiac death, Pulmonary embolism, Splenomegaly, Enlarged polycystic ... ORPHA:744
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse ORPHA:93932
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Restrictive cardiomyopathy, Mitral valve prolapse ORPHA:758
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Aortic regurgitation, Renal insufficiency, Tricuspid regurgitation, Left-to-right shu... OMIM:619534
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Genitopatellar Syndrome
Cryptorchidism, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o... ORPHA:2008
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Branchiooculofacial Syndrome
Cryptorchidism, Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Costello Syndrome
Hypertrophic cardiomyopathy, Renal insufficiency, Arrhythmia, Pulmonic stenosis OMIM:218040
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Mitral valve prolapse OMIM:620233
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse OMIM:616914
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Intracranial hemorrhage, Hypotension, A... ORPHA:90062
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse ORPHA:251066
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... OMIM:602782
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Otit... ORPHA:64
Enthesitis-Related Juvenile Idiopathic Arthritis
Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart morphology ORPHA:85438
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse ORPHA:1900
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Leopard Syndrome 1
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... OMIM:151100
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Crypt... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Chronic kidney disease, Syncope, Septic arthritis, Recurrent aspiration... ORPHA:642
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse ORPHA:284979
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse OMIM:182212
Roberts-Sc Phocomelia Syndrome
Hypospadias, Cryptorchidism, Long penis, Horseshoe kidney, Polycystic kidney dysplasia OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis... ORPHA:261537
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Pmm2-Cdg
Pericarditis, Hypogonadotropic hypogonadism, Proteinuria, Angina pectoris, Intracranial hemorrhag... ORPHA:79318
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hyphema, Hydroce... ORPHA:261552
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Mitral valve prolapse OMIM:611962
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse ORPHA:536467
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:609192
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Mitral valve prolapse ORPHA:369950
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse OMIM:175050
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Marfan Syndrome
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification OMIM:154700
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... ORPHA:2556
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... ORPHA:363700
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu... OMIM:300166
Pallister-Killian Syndrome
Hypospadias, Cryptorchidism, Renal cyst, Hypertrophic cardiomyopathy, Aortic valve stenosis, Rena... OMIM:601803
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Biventricular hypertrophy, Patent foramen ovale, Mitral valve prolapse OMIM:617402
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:601776
Mucopolysaccharidosis, Type Vi
Cardiomyopathy, Mitral stenosis OMIM:253200
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular septal defect, Hypop... OMIM:180849
Turnpenny-Fry Syndrome
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:618371
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... OMIM:143095
Marfan Syndrome
Mitral valve calcification, Mitral valve prolapse ORPHA:558
Meester-Loeys Syndrome
Mitral valve prolapse OMIM:300989
Loeys-Dietz Syndrome 2
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:610168
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mitral valve prolapse ORPHA:666
Atypical Werner Syndrome
Aortic valve calcification, Aortic valve stenosis, Mitral valve prolapse ORPHA:79474
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Aortic valve calcification,... ORPHA:740
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Mitral valve prolapse ORPHA:287
Stickler Syndrome
Mitral valve prolapse ORPHA:828
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Atrial ... OMIM:613795
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse, Right ventricular d... OMIM:619472
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse OMIM:130050
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse ORPHA:286

Histopathology

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

There is no histopathology data for Tns1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tns1.

No publications found that use IMPC mice or data for Tns1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tns1tm209924(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tns1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tns1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter