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Gene: Tns1 MGI:104552

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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
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Renal insufficiency OMIM:615987
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t... OMIM:615862
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H... OMIM:174000
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity OMIM:620425
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar... OMIM:603860
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insuf... OMIM:615993
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Hypogonadism OMIM:616629
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... OMIM:619902
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst OMIM:617056
Frasier Syndrome
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Primary amenorrh... OMIM:136680
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr... ORPHA:567544
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ... OMIM:614376
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Frasier Syndrome
Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri... ORPHA:347
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Renal insufficiency, Hypertension OMIM:618681
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Abnormal renal tu... ORPHA:1909
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Protein... ORPHA:85445
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ... ORPHA:85450
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria ORPHA:2613
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:616730
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Micros... OMIM:161900
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... ORPHA:93126
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Bardet-Biedl Syndrome 4
Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615982
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... ORPHA:567548
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Stage 5 c... OMIM:617575
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatomegaly, Myoglobinuria, Arr... ORPHA:157
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card... ORPHA:439232
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian insuf... ORPHA:3156
Nephronophthisis
Renal insufficiency ORPHA:655
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Erythroderma OMIM:609180
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Portal hyperte... OMIM:263200
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Mpdu1-Cdg
Renal cortical cysts, Eczematoid dermatitis ORPHA:79323
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato... ORPHA:228308
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren... ORPHA:183
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Lead Poisoning
Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased fema... ORPHA:330015
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru... ORPHA:84090
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal hemorrhage, Hematuria, Renal cyst, Raynaud phenomenon, Supraventricu... OMIM:611773
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mild proteinuria OMIM:301108
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency OMIM:256150
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614582
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatomegaly, Cerebellar ... OMIM:251000
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urethriti... ORPHA:449395
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Proteinuria, Glomerular sclerosi... OMIM:607426
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Isolated Polycystic Liver Disease
Hepatomegaly, Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... OMIM:619468
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, Glomerulopathy, T... ORPHA:33001
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Joubert Syndrome 20
Renal cyst OMIM:614970
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:615996
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis, Abnormality of the kidney ORPHA:459061
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:971
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:270150
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:276621
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
C Syndrome
Hepatomegaly, Renal cortical cysts OMIM:211750
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... OMIM:232200
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu... OMIM:162000
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Cardiomyopathy ORPHA:254857
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Congestive heart failure, Hyp... OMIM:617303
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Acute pancreatitis, Recurrent urinary tract infections, H... OMIM:619487
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Hepatic cysts, Cystic renal dysplasia, Hepato... OMIM:615415
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ... ORPHA:90068
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Recurrent aspiration pneumonia... ORPHA:397715
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,... ORPHA:37042
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Hypertension, Enlar... ORPHA:251004
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu... ORPHA:567546
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis OMIM:603592
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin les... ORPHA:247691
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Mitral regurgitation, Polycystic kidney dysplasia, Hypertension OMIM:173900
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri... ORPHA:411536
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Trisomy X
Premature ovarian insufficiency, Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypopl... ORPHA:3375
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Arrhythmia, Hypertension ORPHA:526
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency ORPHA:890
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:29072
Retinitis Pigmentosa 59
Micropenis, Hepatomegaly, Renal insufficiency OMIM:613861
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoca... ORPHA:182050
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Anti-Glomerular Basement Membrane Disease
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis ORPHA:375
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Myocardial infarction ORPHA:54057
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Multiple renal cysts... ORPHA:464329
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Arrhy... OMIM:608836
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Recurrent pancreatitis, Polycyst... OMIM:145001
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Alstrom Syndrome
Irregular menstruation, Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Congestive heart ... OMIM:203800
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hypertroph... OMIM:276700
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology OMIM:223900
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Port... OMIM:208540
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia ORPHA:2248
Gitelman Syndrome
Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Prolonged PR interv... ORPHA:358
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Intermediate Uveitis
Vasculitis, Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Complement Factor I Deficiency
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... OMIM:610984
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hypospadias, Tricuspid regurgitation, Hepatosplenomegaly, Mitral regurgitat... OMIM:614866
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Hepatomegaly, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Lesch-Nyhan Syndrome
Hematuria, Gout, Renal insufficiency ORPHA:510
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Stage 5 chronic kidney disease, Re... OMIM:242900
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Pulmonary venous hypertension, Skin ... ORPHA:79128
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Axial Osteomalacia
Renal cyst OMIM:109130
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Nephronophthisis 19
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Splenomegaly, Renal int... OMIM:616217
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency ORPHA:28
Malaria
Acute kidney injury ORPHA:673
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Sterile pyuria, Beta 2-mi... ORPHA:91500
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
H Syndrome
Bronchiectasis, Hypogonadism, Azoospermia, Facial telangiectasia, Abnormal cardiovascular system ... ORPHA:168569
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Macroscopic hematur... ORPHA:79233
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... OMIM:166300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Nephrocalcinosis, Inflammation of the large intestine, Periodo... ORPHA:79259
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Inflammation of the large intestine, Decre... OMIM:232240
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Bardet-Biedl Syndrome 17
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus ORPHA:2377
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Hepato... OMIM:614922
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec... ORPHA:3467
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Impotence, Rheumatoid arthritis, Budd-Chiari syndrome, Large vessel vasculit... ORPHA:49041
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Renal insufficiency, Pancreatitis, Lacticaciduria OMIM:619386
Amyloidosis, Finnish Type
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Decreased hear... OMIM:105120
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis OMIM:300323
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithi... ORPHA:411543
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Pulmonary hemorrhage, Hepatosplenomegaly, Renal insufficiency, Membranoproli... OMIM:619644
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy ORPHA:3222
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Primary Sjögren Syndrome
Vasculitis, Arteritis, Parotitis, Chronic active hepatitis, Chronic hepatitis, Renal insufficienc... ORPHA:289390
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Galactosuria, Renal cortical microcysts, Splenomegaly, Hepatomegaly, Hyposp... OMIM:222470
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Muckle-Wells Syndrome
Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, Conjunctivitis, Maculopapu... OMIM:191900
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T... ORPHA:227990
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Babesiosis
Congestive heart failure, Renal insufficiency, Splenomegaly, Hepatomegaly, Myocardial infarction ORPHA:108
Alg1-Cdg
Nephrotic syndrome, Cardiomyopathy, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Streak ovary, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato... ORPHA:227982
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Seborrheic dermatitis, Hepatomegaly, Conjunctivit... ORPHA:488618
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Hematuria, Proteinuri... ORPHA:91138
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy OMIM:602579
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Heparan sulfate excretion in urine, Tricus... ORPHA:505248
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent pneumonia, Recurrent urinar... ORPHA:731
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency OMIM:602152
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Seborrheic dermatitis, Telangiectasia of the skin, Ovarian serous cystadenoma, En... ORPHA:276280
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Uveitis, Congestive heart failure, ... ORPHA:727
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Dilated cardiomyopathy, Ca... ORPHA:550
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Pancreatitis, Hepatomegaly ORPHA:79312
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concen... ORPHA:320
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros... OMIM:618913
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Hypogonadism OMIM:615989
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Bardet-Biedl Syndrome 9
Irregular menstruation, Renal insufficiency OMIM:615986
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Abnormal renal tubule morphology, Pancrea... ORPHA:188
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Hypertensi... ORPHA:3027
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Hypocomplementemic Urticarial Vasculitis
Uveitis, Renal insufficiency, Episcleritis, Skin rash, Splenomegaly, Hematuria, Proteinuria, Glom... ORPHA:36412
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Telangiectasia of the skin, Hypoplasia of penis, Renal dys... ORPHA:85321
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Simple Cryoglobulinemia
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Viral hepatitis, Congestive heart failure, Re... ORPHA:91139
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Recurrent otitis media, Hepatosplenomegaly, Stage 5 chronic k... OMIM:615559
Sarcoidosis
Nephrocalcinosis, Uveitis, Parotitis, Renal insufficiency, Portal hypertension, Nephrolithiasis, ... ORPHA:797
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin... ORPHA:79101
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Immunodeficiency 96
Conjunctival telangiectasia, Recurrent otitis media, Multicystic kidney dysplasia, Eczematoid der... OMIM:619774
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... ORPHA:220393
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... OMIM:267010
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Renal insufficiency, Cardiomyopathy ORPHA:27
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Cardiomyopathy, Renal tubular acidosis, 3-Methylglutaconic aciduria ORPHA:324525
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension... OMIM:612925
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo... ORPHA:368
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly OMIM:615630
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Short chordae tendineae of th... OMIM:314400
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Scrub Typhus
Hypotension, Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Myocarditis, ... ORPHA:83317
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Severe Acute Respiratory Syndrome
Acute kidney injury, Acute infectious pneumonia ORPHA:140896
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Oligozoospermia, Renal dysplasia OMIM:314300
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal cyst, Hyperca... OMIM:615398
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie... OMIM:137940
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Variant Abeta2M Amyloidosis
Chronic kidney disease, Reduced left ventricular ejection fraction, Renal amyloidosis ORPHA:314652
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Renal cyst, Giant cell hepatitis, Dark urine ORPHA:79303
Mody
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney ORPHA:552
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... ORPHA:93552
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, M... ORPHA:99845
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Recurrent pneumonia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:252500
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:228410
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Heart murmur ORPHA:166035
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612926
Cystic Echinococcosis
Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy, Hepatomegaly ORPHA:400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Atrioventricular block, Arterial occlusion, Hyperoxaluria, Renal insufficiency,... OMIM:259900
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Hypertrophic cardiomyopathy, Lacticaciduria, Tubulointerstitial nephritis, Cholang... OMIM:124000
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ... ORPHA:213
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Chordee, Premature ovarian insufficiency, Hypospadias, Renal dysplasia ORPHA:96179
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Boutonneuse Fever
Vasculitis, Maculopapular exanthema, Renal insufficiency, Skin rash ORPHA:83313
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Renal cyst OMIM:615560
Mass Syndrome
Mitral valve prolapse OMIM:604308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612924
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Alg9-Cdg
Hypoplasia of the bladder, Tricuspid regurgitation, Abnormal renal artery morphology, Hepatic cys... ORPHA:79328
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,... ORPHA:416
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Legionnaires Disease
Hypotension, Hepatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Hematuria, Pr... ORPHA:549
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly OMIM:608776
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple ren... ORPHA:2869
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Septic arthritis, Hepatitis, Recurrent urinary tract infections, Shock, O... ORPHA:36234
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Erythroderma ORPHA:313
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Snakebite Envenomation
Epistaxis, Hypotension, Acute kidney injury, Cardiogenic shock, Cerebral ischemia, Tachycardia, I... ORPHA:449285
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pulmonary insuff... OMIM:208500
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Premature ovarian insufficiency, Proteinuria, Renal cyst, H... OMIM:212065
Joubert Syndrome 14
Renal cyst, Intracranial hemorrhage, Hypertension OMIM:614424
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Granulomatosis With Polyangiitis
Hematuria, Prostatitis, Arrhythmia, Inflammatory abnormality of the eye, Chronic otitis media, Va... ORPHA:900
Trisomy 17P
Aortic valve stenosis, Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dys... ORPHA:261290
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Proteinuria, Cardiomegaly, Cerebral hemorrhage, Hypertension OMIM:618886
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Arrhythmia, Micropenis, H... ORPHA:261494
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus ORPHA:3378
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Meningococcal Meningitis
Hypotension, Shock, Renal insufficiency, Skin rash, Infectious encephalitis ORPHA:33475
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Male sexual dysfunction, Female sexual dysfunction, ... ORPHA:322
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency, Systolic heart murmur OMIM:617478
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency ORPHA:1563
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Cardiomyopathy, Congestive hear... ORPHA:26791
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H... ORPHA:2237
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thyroiditis, Myositis ORPHA:79078
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Sickle Cell Disease
Priapism, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly, Hypertension OMIM:603903
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Arrhythmia ORPHA:57
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Intestinal bleeding, Right ventricular failure, Nail... ORPHA:90291
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Splenomegaly, Nep... ORPHA:116
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... ORPHA:391641
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephroblastoma, Ne... ORPHA:99880
Leprechaunism
Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Hypercalciuria, Enlarged ovaries, Hepa... ORPHA:508
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Episcleritis, Skin rash, Orchitis, ... ORPHA:761
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Pulmonary arterial hypertension, Pol... OMIM:613845
Ogden Syndrome
Eczematoid dermatitis, Torsade de pointes, Premature atrial contractions, Recurrent otitis media,... OMIM:300855
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Helix Syndrome
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis OMIM:617671
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephroblastoma, Ne... ORPHA:143
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, ... ORPHA:79404
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis OMIM:217090
Refsum Disease
Renal insufficiency, Splenomegaly, Cardiomyopathy, Heart block ORPHA:773
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hypotension, Reduced left ventricular ejection fraction, Skin rash, Increase... ORPHA:542323
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Splenomegaly... ORPHA:1454
Sifrim-Hitz-Weiss Syndrome
Micropenis, Hypogonadotropic hypogonadism, Vesicoureteral reflux, Renal insufficiency OMIM:617159
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Renal insufficiency, Hepatitis, Portal hypertension ORPHA:440713
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Dyspareunia, Pancre... ORPHA:36426
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Horseshoe kidney, Mitral stenosis, Cardiomegaly, Hepatomegaly, Enlarged kidney, P... OMIM:306955
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficienc... ORPHA:140952
Relapsing Fever
Epistaxis, Acute kidney injury, Abnormality of the urinary system, Hypotension, Hematuria, Tachyc... ORPHA:91547
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia, Mitral stenosis OMIM:617260
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Erdheim-Chester Disease
Congestive heart failure, Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Hypogona... ORPHA:35687
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Hematuria, Proteinuria, Hepatomegaly, Hyperten... OMIM:614034
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Splenomegaly OMIM:251290
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Generalized Pustular Psoriasis
Congestive heart failure, Renal insufficiency, Palmoplantar pustulosis, Pustule, Erythroderma, Ar... ORPHA:247353
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Hemolytic-uremic ... OMIM:611209
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatitis, Portal hypertension, Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycys... OMIM:610199
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Wolff-Parkinson-White syndrome OMIM:191100
Zellweger Syndrome
Hydronephrosis, Hepatomegaly, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hepatomegaly, Polycystic kidney dysplasia OMIM:214110
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Methylmalonic aciduria, Cystathion... OMIM:277400
Alveolar Echinococcosis
Cutaneous abscess, Budd-Chiari syndrome, Portal hypertension, Hepatic cysts, Abnormal bladder mor... ORPHA:284
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Renal insufficiency... OMIM:203300
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Tricuspid regurgitation, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ure... OMIM:618460
Xfe Progeroid Syndrome
Proteinuria, Premature ovarian insufficiency, Renal insufficiency, Hypertension OMIM:610965
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias, Pulmonic stenosis OMIM:257300
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Tricuspid regurgitation, Mitral regurgitation, Proteinuria, L... OMIM:619127
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Mitral regurgitation, Heart murmur, Enlarg... OMIM:615873
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Mercury Poisoning
Hypotension, Acute kidney injury, Interstitial pneumonitis, Tachycardia, Hypertension ORPHA:330021
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Eczematoid dermatitis, Nephroblastoma ORPHA:1001
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Wolff-Parkinson-White syndrome, Absence o... OMIM:613254
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Low-molecular-weight pro... OMIM:219800
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Hyper... ORPHA:805
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Gout, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias OMIM:300661
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis OMIM:300519
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Central Core Disease
Mitral valve prolapse ORPHA:597
Von Hippel-Lindau Syndrome
Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, Pancreatic cysts, Hypertension OMIM:193300
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Vesicoureteral reflux, Renal insufficiency, Hypoplas... ORPHA:96147
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Renal insu... ORPHA:728
Pyomyositis
Myositis, Sudden cardiac death, Renal insufficiency, Recurrent cutaneous abscess formation ORPHA:764
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio... ORPHA:324
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Familial Dysautonomia
Renal insufficiency, Glomerulopathy, Orthostatic hypotension, Abnormality of the kidney, Tachycar... ORPHA:1764
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Pulmonary arte... OMIM:618454
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hypertensi... ORPHA:79276
Behçet Disease
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... ORPHA:117
Giant Cell Arteritis
Vasculitis, Epistaxis, Cerebral ischemia, Renal insufficiency, Hematuria, Arrhythmia, Arthritis, ... ORPHA:397
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Hypogonadism, Mitral regurgitation, Hydroneph... ORPHA:261349
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Micropenis, Tachycardia, Patent urachus, Enlarged kidney OMIM:618280
Uremic Pruritus
Chronic kidney disease, Stage 5 chronic kidney disease, Recurrent skin infections, Inflammatory a... ORPHA:94059
Castleman Disease
Hematuria, Ureteral obstruction, Restrictive cardiomyopathy, Renal insufficiency ORPHA:160
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i... ORPHA:293173
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Tafro Syndrome
Hepatomegaly, Hepatosplenomegaly, Renal insufficiency, Splenomegaly ORPHA:457077
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Wolcott-Rallison Syndrome
Chronic kidney disease, Hepatomegaly, Renal insufficiency ORPHA:1667
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu... OMIM:122470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary system, Renal cyst, Hype... ORPHA:369837
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Neurogenic bladder, Ele... ORPHA:79473
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Colchicine Poisoning
Hypotension, Oliguria, Cardiogenic shock, Congestive heart failure, Renal insufficiency, Arrhythm... ORPHA:31824
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Renal insufficiency... ORPHA:33226
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In... ORPHA:89938
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Multiple renal cy... ORPHA:892
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Skin rash, Maculopapular exanthema, Bradycardi... ORPHA:319213
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Hydronephros... ORPHA:464311
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Malar rash, Splenomegaly, Hepatomegaly, Nephr... OMIM:603909
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Micropeni... OMIM:146510
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Joubert Syndrome 21
Renal cyst, Splenomegaly, Chronic sinusitis, Hyperechogenic kidneys OMIM:615636
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce... OMIM:266920
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Avian Influenza
Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Congestive heart failure, Infectious encepha... ORPHA:454836
Cockayne Syndrome Type 1
Male hypogonadism, Renal insufficiency, Proteinuria, Hepatomegaly, Conjunctivitis, Hypertension, ... ORPHA:90321
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:235400
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Palpitations, Lacticaciduria OMIM:618250
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Pancreatitis, Conju... ORPHA:537
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia ORPHA:99776
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease OMIM:620366
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Eczematoid d... ORPHA:464306
Shigellosis
Pneumonia, Hypovolemic shock, Acute kidney injury, Uveitis, Ulcerative colitis, Urethritis, Perit... ORPHA:810
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Hypertension, Myocardial infarction OMIM:208060
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney OMIM:606232
Caroli Disease
Portal hypertension, Splenomegaly, Hepatomegaly, Cholangitis, Polycystic kidney dysplasia ORPHA:53035
Acute Adrenal Insufficiency
Hypotension, Renal insufficiency, Decreased female libido, Decreased urinary potassium, Orthostat... ORPHA:95409
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Stage 5 chronic kidney disease OMIM:614378
Meckel Syndrome 14
Tricuspid regurgitation, Polycystic kidney dysplasia, Mitral regurgitation OMIM:619879
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia OMIM:616300
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Subdural hemorrhage,... ORPHA:90324
D-Bifunctional Protein Deficiency
Hepatomegaly, Renal cyst, Splenomegaly OMIM:261515
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Aspiration pneumonia, Decreased urine output... ORPHA:173
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Spondyloenchondrodysplasia
Chronic kidney disease, Vasculitis, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Rayn... ORPHA:1855
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl... ORPHA:96148
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Esop... ORPHA:2538
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple re... ORPHA:538
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... ORPHA:1018
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Hermansky-Pudlak Syndrome
Menometrorrhagia, Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Renal insufficiency ORPHA:79430
Hereditary Fructose Intolerance
Chronic kidney disease, Hepatomegaly, Renal insufficiency ORPHA:469
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome... ORPHA:447
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Renal insufficiency OMIM:226980
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Splenomegaly, Orchitis, Crohn's di... OMIM:249100
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Cardiomyopathy, Right ventricular hypertrophy, Nephroblastoma, Splen... OMIM:312870
Zygomycosis
Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Renal insufficien... ORPHA:73263
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Folliculitis, Morbilliform rash, Osteomyelitis, Cerebral ischem... ORPHA:228123
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Serotonin Syndrome
Hypotension, Tachycardia, Acute kidney injury, Hypertension ORPHA:43116
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, Colitis,... ORPHA:3261
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Abnormal heart morphology, Tetralogy... ORPHA:1686
Caroli Syndrome
Portal hypertension, Hematemesis, Pancreatitis, Abnormality of the kidney, Melena, Hepatomegaly, ... ORPHA:480520
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Telangiectasia of the skin, Displacement of the urethral meatus ORPHA:1556
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Methylmalonic aciduria, Ketonuria, Subdural hemorrhag... ORPHA:79282
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Renal insu... OMIM:181270
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Supraventricular tachycardia, High-output congestive heart failure, Prematur... ORPHA:423
Proteus Syndrome
Long penis, Pulmonary embolism, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Sudden car... ORPHA:744
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Telangi... ORPHA:2092
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Pearson Syndrome
Glycosuria, Cardiomyopathy, Renal insufficiency, Cardiac conduction abnormality, Splenomegaly, Pr... ORPHA:699
Bardet-Biedl Syndrome
Chronic kidney disease, Irregular menstruation, Inflammation of the large intestine, Cardiomyopat... ORPHA:110
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts,... ORPHA:2750
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency... OMIM:233450
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Periodontitis, Oligosacchariduria, Azoospermia, Renal insufficie... ORPHA:534
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Mitral valve prolapse ORPHA:324604
Sepsis In Premature Infants
Hypotension, Oliguria, Reversible renal failure, Splenomegaly, Enterocolitis, Bradycardia, Hepato... ORPHA:90051
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Hellp Syndrome
Acute kidney injury, Hypotension, Proteinuria, Internal hemorrhage, Cerebral hemorrhage, Hemoglob... ORPHA:244242
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Mitral valve prolapse, Pericarditis ORPHA:2848
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Perito... OMIM:619351
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Hepat... OMIM:301068
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Renal insufficiency, Splenomegaly, Renal cyst, Left ventricular hypertrophy,... OMIM:613610
Syndromic Diarrhea
Aortic regurgitation, Renal hypoplasia, Splenomegaly, Gastritis, Hepatomegaly, Colitis, Polycysti... ORPHA:84064
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Ectopia Lentis 1, Isolated, Autosomal Dominant
Mitral valve prolapse OMIM:129600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Vesicoureteral reflux, Hypospadias OMIM:616975
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Urethritis, Osteomyelitis, Abnormality... ORPHA:2552
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Renal hypoplasia, Splenomegaly, Cystic renal dysplasia OMIM:269860
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Pagod Syndrome
Multicystic kidney dysplasia, Sudden cardiac death, Arrhythmia, Renal hypoplasia/aplasia ORPHA:991
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... ORPHA:2044
Multiple Myeloma
Nephropathy, Acute kidney injury, Splenomegaly, Nephrotic syndrome, Abnormality of the bladder ORPHA:29073
Ehlers-Danlos Syndrome, Classic-Like, 1
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Scorpion Envenomation
Acute pancreatitis, Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Priapism, Prom... ORPHA:466677
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, ... ORPHA:96149
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Tricuspid regurgitation, Polycystic kidney dysplasia OMIM:263520
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Eczema... OMIM:270400
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias OMIM:229850
Porphyria Cutanea Tarda
Cutaneous abscess, Stage 5 chronic kidney disease, Increased urinary porphobilinogen, Porphyrinur... ORPHA:101330
Yellow Fever
Acute kidney injury, Anuria, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fra... ORPHA:99829
Orofaciodigital Syndrome I
Hepatic cysts, Ovarian cyst, Proteinuria, Hypertension, Pancreatic cysts, Polycystic kidney dyspl... OMIM:311200
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Keratoconjunctivitis sicca, Hypospadias ORPHA:495875
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defe... OMIM:612863
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Acute colitis, Peritonitis, Pancreatitis, Hemoglobinuria, Hypertensi... ORPHA:90038
Cockayne Syndrome A
Irregular menstruation, Hypogonadism, Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegal... OMIM:216400
Geleophysic Dysplasia 2
Aortic valve stenosis, Tricuspid stenosis, Mitral stenosis, Mitral valve prolapse OMIM:614185
Schinzel-Giedion Syndrome
Recurrent pneumonia, Abnormality of the ureter, Streak ovary, Nephroblastoma, Nephrolithiasis, Hy... ORPHA:798
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Hypogonadism,... ORPHA:84
Neuroleptic Malignant Syndrome
Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Aspiration pneumonia, ... ORPHA:94093
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Septic arthritis, Congestive heart failure, Osteomyeli... ORPHA:533
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Renal insufficiency, Abnormality of the kidney ORPHA:449432
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Glue ear, Hydronephrosis, Myositis, Pulmona... ORPHA:3310
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Hepatitis, Congestive heart failure, Hepatosplenomegaly... ORPHA:171
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Bacterial endocarditis, Right ventricular failure... ORPHA:97214
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Agel Amyloidosis
Cardiomyopathy, Stage 5 chronic kidney disease, Proteinuria, Orthostatic hypotension due to auton... ORPHA:85448
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Malar rash, Renal insufficiency, Retinal hemorrhage,... ORPHA:191
Cap Myopathy
Mitral valve prolapse ORPHA:171881
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:616580
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Bundle branch block, Splenomegaly, Nep... ORPHA:373
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Right atrial enlargement, Mitral valve prolapse ORPHA:555877
Marburg Hemorrhagic Fever
Hypotension, Uveitis, Subconjunctival hemorrhage, Shock, Renal insufficiency, Capillary leak, Ski... ORPHA:99826
Gaucher Disease, Type Iiic
Aortic valve calcification, Cardiomegaly, Mitral stenosis, Mitral valve calcification OMIM:231005
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Double outlet right vent... ORPHA:371428
Distal Deletion 15Q
Multicystic kidney dysplasia, Mitral stenosis, Micropenis, Abnormal localization of kidney, Hypos... ORPHA:1596
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, L... OMIM:616564
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Ventricular septal defect ORPHA:3071
1P36 Deletion Syndrome
Dilated cardiomyopathy, Hypogonadism, Hydronephrosis, Renal cyst, Telangiectasia, Abnormality of ... ORPHA:1606
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Decrease... ORPHA:544482
African Trypanosomiasis
Myelitis, Second degree atrioventricular block, Third degree atrioventricular block, Conjunctivit... ORPHA:3385
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral valve prolapse OMIM:258450
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse OMIM:264800
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Williams Syndrome
Mitral regurgitation, Polycystic ovaries, Chronic otitis media, Hypertrophic cardiomyopathy, Rena... ORPHA:904
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Mitral stenosis, Splenomegaly, Multiple renal cysts, Hepato... ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Chronic otitis media, Hypoplasia of penis ORPHA:1507
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease OMIM:608612
Leptospirosis
Acute kidney injury, Hypotension, Uveitis, Hepatitis, Pulmonary hemorrhage, Skin rash, Hepatomega... ORPHA:509
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Urethral atresia ORPHA:564
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Ventricular septal defect OMIM:121050
Cockayne Syndrome B
Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Arrhythmia, Micropenis, Hypertension OMIM:133540
Jacobsen Syndrome
Hydronephrosis, Aortic valve stenosis, Multicystic kidney dysplasia, Eczematoid dermatitis ORPHA:2308
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Pulmonic stenosis ORPHA:97360
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of... ORPHA:95455
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... ORPHA:500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
22Q11.2 Deletion Syndrome
Acne, Hypertensive crisis, Renal hypoplasia, Gastrointestinal hemorrhage, Vesicoureteral reflux, ... ORPHA:567
Degcags Syndrome
Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h... OMIM:619488
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Oroticaciduria, Pulmonary hemorrhage, Stage 5 chronic kidney disea... OMIM:222700
C Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1308
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... ORPHA:818
Blau Syndrome
Nephropathy, Posterior uveitis, Keratitis, Large vessel vasculitis, Stage 5 chronic kidney diseas... ORPHA:90340
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, R... OMIM:194050
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth... OMIM:107480
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Renal insufficiency, Sple... OMIM:188400
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Primary amenorrhea, Hyp... ORPHA:199
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Left ventricular hypertrophy, Atrial septal defect, Mitral valve... ORPHA:230851
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Splenomegaly, Polycystic ki... OMIM:249000
Arthrogryposis, Distal, Type 12
Mitral valve prolapse OMIM:620545
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Hypertension, Renal cyst, Micropenis, Polycystic kidney dysplasia OMIM:210710
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis ORPHA:449427
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Glycosuria, Skin rash, Polycystic ovaries, Proteinuria, Enlarged polycystic... ORPHA:2298
Pseudoxanthoma Elasticum, Forme Fruste
Mitral valve prolapse OMIM:177850
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Exercise-Induced Malignant Hyperthermia
Hypotension, Acute kidney injury, Oliguria, Abnormal pulse pressure, Sinus tachycardia, Abnormal ... ORPHA:466650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Micropenis, Polycystic kidney dyspla... OMIM:134780
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Dilatation of the renal pelvis, Hyperechogenic kidneys... OMIM:619534
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Keratitis, Renal agenesis, Eczematoid de... OMIM:308205
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Abnormal endocardium morphology, Mitral valve prolapse ORPHA:758
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse ORPHA:93932
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Mitral valve prolapse OMIM:620233
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Sotos Syndrome
Renal agenesis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, P... ORPHA:821
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Cerebellofaciodental Syndrome
Mitral valve prolapse, Ventricular septal defect OMIM:616202
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Renal insufficiency, Pulmonic stenosis OMIM:218040
Acute Liver Failure
Gastrointestinal hemorrhage, Hypotension, Acute kidney injury, Hepatitis, Shock, Skin rash, Intra... ORPHA:90062
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse OMIM:616914
Cohen Syndrome
Mitral valve prolapse, Ventricular septal defect ORPHA:193
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse ORPHA:251066
Branchiooculofacial Syndrome
Renal cyst, Hypospadias, Renal agenesis OMIM:113620
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Histiocytosis-Lymphadenopathy Plus Syndrome
Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Pulmonic st... OMIM:602782
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal heart morphology, Dilatation of the ventricular cavity, Mitral valve prolapse ORPHA:85438
Alström Syndrome
Chronic kidney disease, Hepatosplenomegaly, Polycystic ovaries, Glomerulonephritis, Oligozoosperm... ORPHA:64
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse ORPHA:1900
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse ORPHA:284979
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva... OMIM:151100
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfun... ORPHA:642
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Cerebellar-Facial-Dental Syndrome
Mitral valve prolapse, Ventricular septal defect ORPHA:444072
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse OMIM:182212
Mowat-Wilson Syndrome
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Vesico... ORPHA:2152
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Vesico... ORPHA:261537
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Pmm2-Cdg
Aspiration pneumonia, Hypertrophic cardiomyopathy, Proteinuria, Hypogonadotropic hypogonadism, An... ORPHA:79318
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Hypospadias, Long penis, Polycystic kidney dysplasia OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Duplication of renal pelvis, H... ORPHA:261552
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse ORPHA:536467
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse OMIM:175050
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Mitral valve prolapse OMIM:611962
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Mitral valve prolapse ORPHA:369950
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Tricuspid valve prolapse, Mitral valve prolapse OMIM:154700
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Tricuspid valve prola... ORPHA:2556
Pallister-Killian Syndrome
Aortic valve stenosis, Hypertrophic cardiomyopathy, Renal cyst, Hypospadias, Renal dysplasia OMIM:601803
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Atrial septal defect, Mitral valve prolapse OMIM:601776
Cutis Laxa, Autosomal Recessive, Type Iic
Biventricular hypertrophy, Patent foramen ovale, Atrial septal defect, Mitral valve prolapse OMIM:617402
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Atrial septal defect, Mitral valve prolapse OMIM:618371
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... ORPHA:363700
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... OMIM:180849
Marfan Syndrome
Tricuspid valve prolapse, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Meester-Loeys Syndrome
Mitral valve prolapse OMIM:300989
Holt-Oram Syndrome
Hypoplastic left heart, Secundum atrial septal defect, Muscular ventricular septal defect, Left v... OMIM:142900
Loeys-Dietz Syndrome 2
Patent foramen ovale, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Bicuspi... OMIM:610168
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Bicuspid pulmonary valve OMIM:609192
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mitral valve prolapse ORPHA:666
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Mitral valve prolapse ORPHA:79474
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Mitral valve prolapse ORPHA:287
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Mitral valve prolapse, Bicuspid aortic valve, Left ventricular hypertrop... OMIM:613795
Viss Syndrome
Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep... OMIM:619472
Stickler Syndrome
Mitral valve prolapse ORPHA:828
Hypermobile Ehlers-Danlos Syndrome
Mitral valve prolapse ORPHA:285
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

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