Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger and BTB domain containing 14
Synonyms:
ZF5,  Zfp161,  b2b1982Clo

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zbtb14 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 Zbtb14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydroureter, Hydronephrosis OMIM:264140
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot ORPHA:251076
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... OMIM:220210
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect OMIM:611376
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Unilateral renal agenesis, Micropenis, ... ORPHA:363444
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Diabetic Embryopathy
Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Tetralogy of Fallot, V... ORPHA:1926
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of... OMIM:314390
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus OMIM:601355
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Renal cyst, Meningoc... OMIM:611134
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, V... ORPHA:1166
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydroureter, Urethral diverticulum,... OMIM:212093
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Hydronephrosis, Ureteral atresia OMIM:183802
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesh... OMIM:306955
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... OMIM:617877
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in... OMIM:619902
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Fanconi Anemia, Complementation Group O
Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis, Abnormal heart morphology OMIM:613390
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts OMIM:263630
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Vascular dilatation, Renal insufficiency, Retinal art... OMIM:611773
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Joubert Syndrome 16
Renal cyst, Encephalocele, Nephronophthisis OMIM:614465
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... ORPHA:1727
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Prune Belly Syndrome
Hydroureter, Patent ductus arteriosus, Hydronephrosis, Urethral valve, Congenital posterior ureth... OMIM:100100
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Hydroureter, Multicyst... ORPHA:2970
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... OMIM:615415
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot OMIM:613630
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... ORPHA:477817
Verheij Syndrome
Renal agenesis, Abnormal cardiac septum morphology, Renal cyst, Renal hypoplasia OMIM:615583
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Occipital en... OMIM:615287
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Hypospadias, Tetralogy of Fallot ORPHA:1919
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... ORPHA:488618
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... OMIM:617056
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal he... OMIM:618494
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Abnormal localizati... ORPHA:83473
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Vascular dilatation, Renal insufficiency, Renal cortico... OMIM:219730
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Chromosome 9P Deletion Syndrome
Atrial septal defect, Micropenis, Hypospadias, Ventricular septal defect, Patent ductus arteriosu... OMIM:158170
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... ORPHA:3426
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Atrial septal defect, Hypoplastic left heart,... ORPHA:2473
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Renal agenesis, Hypospadias, Coarctation of... ORPHA:508498
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Micropenis, Renal agenesis, Hypospadias, Ventricular septal defect, Umbilical hernia, Hydronephro... OMIM:301040
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Joubert Syndrome 18
Ventricular septal defect, Horseshoe kidney OMIM:614815
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Renal tubular dysfunction, Hydrocephalus, Atrial septal defect, Pa... OMIM:614886
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Micropenis, Renal agen... OMIM:264480
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
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Renal agenesi... OMIM:115470
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Distal Tetrasomy 15Q
Hydrocephalus, Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney... ORPHA:314588
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Situs inversus t... ORPHA:244
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... ORPHA:7
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Congenital megaureter, Abnormality of the urinary system, Spina ... ORPHA:2437
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... OMIM:612946
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal def... OMIM:613001
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Basel-Vanagaite-Smirin-Yosef Syndrome
Abnormal cardiac septum morphology, Hypospadias, Hydronephrosis OMIM:616449
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary artery atres... OMIM:301056
46,Xx Sex Reversal 5
Ventricular septal defect, Urogenital sinus anomaly, Secundum atrial septal defect, Hypoplastic l... OMIM:618901
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Abnormality of the urinary system, Tetralogy of Fallot, Commun... ORPHA:2184
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... OMIM:613095
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Thakker-Donnai Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Ventricular septal defect, Transposition of the... ORPHA:1780
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts OMIM:600666
Meckel Syndrome, Type 5
Renal cyst, Occipital encephalocele, Anencephaly OMIM:611561
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Fetal Trimethadione Syndrome
Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Vacterl/Vater Association
Abnormal cardiac septum morphology, Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality... ORPHA:887
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly OMIM:236500
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Renal agenesis, Pulmonary artery hypoplasia, Anomalous... ORPHA:2326
Feingold Syndrome Type 1
Tricuspid atresia, Nephritis, Tricuspid stenosis, Abnormality of the kidney, Renal dysplasia, Hor... ORPHA:391641
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Trisomy 13
Atrial septal defect, Abnormality of the ureter, Multiple renal cysts, Ventricular septal defect,... ORPHA:3378
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Multicystic kidney dy... OMIM:267010
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... OMIM:614922
Trisomy 1Q
Hydrocephalus, Congenital megaureter, Multicystic kidney dysplasia, Ventricular septal defect, Pa... ORPHA:261344
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Anencephaly, Renal cyst, Occipital encephalocele OMIM:614175
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Joubert Syndrome 7
Renal cyst, Encephalocele, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Ureteral triplication, Mitral valve prolapse, Patent ductus arteriosus, Hydronephr... OMIM:104350
Xanthinuria, Type I
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis OMIM:278300
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Halperin-Birk Syndrome
Perimembranous ventricular septal defect, Umbilical hernia, Semilobar holoprosencephaly OMIM:618651
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Trisomy 17P
Hydrocephalus, Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kid... ORPHA:261290
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Tetralogy of Fallot ORPHA:1381
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... OMIM:615994
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... ORPHA:255249
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Igg4-Related Aortitis
Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Abnormal aortic arch morphol... ORPHA:449400
Meckel Syndrome, Type 2
Renal cyst, Encephalocele, Anencephaly, Meningocele OMIM:603194
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Renal agenesis, Hypospadias... ORPHA:1335
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Myopathy, Congenital, Progressive, With Scoliosis
Renal atrophy, Hydronephrosis OMIM:618578
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydrocephalus, Patent ductus arteriosus, Hydronephrosis OMIM:609757
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Left ventricular hypertrophy, Renal insufficiency, Hydronephrosis OMIM:611209
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Multiple renal cysts, Endocardial fibroelastosis, Vent... ORPHA:99776
Thoracoabdominal Syndrome
Hydrocephalus, Renal agenesis, Hypospadias, Anencephaly, Ectopia cordis, Patent ductus arteriosus... OMIM:313850
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:618950
Joubert Syndrome 39
Polycystic kidney dysplasia, Occipital encephalocele, Hypoplastic left heart OMIM:619562
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Hydronephrosis OMIM:619797
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Vascular dilatation, Multiple small medu... OMIM:216360
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Carpenter Syndrome 1
Atrial septal defect, Pulmonic stenosis, Hydroureter, Spina bifida occulta, Tetralogy of Fallot, ... OMIM:201000
Joubert Syndrome 20
Renal cyst OMIM:614970
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Coarctation of aorta, Renal cyst, Renal hypoplasia, Patent du... OMIM:618454
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Cardiomyopathy, Hydronephrosis, Stroke-like episode OMIM:222300
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis OMIM:304900
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... ORPHA:3467
Noonan Syndrome 4
Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Ventricular septal defect, Hydrone... OMIM:610733
Marden-Walker Syndrome
Hydrocephalus, Renal hypoplasia/aplasia, Abnormality of the urinary system, Abnormal penis morpho... ORPHA:2461
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Serkal Syndrome
Pulmonic stenosis, Abnormal penis morphology, Hypospadias, Renal agenesis, Hypoplasia of the blad... ORPHA:139466
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Ven... ORPHA:1908
Kleefstra Syndrome
Bicuspid aortic valve, Hypoplasia of penis, Micropenis, Hypospadias, Coarctation of aorta, Tetral... ORPHA:261494
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Micropenis,... ORPHA:163956
Ogden Syndrome
Bicuspid aortic valve, Global glomerulosclerosis, Secundum atrial septal defect, Atrial septal de... OMIM:300855
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... OMIM:265380
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Hydronephrosis, Umbilical hernia ORPHA:3079
Braddock-Carey Syndrome 1
Ventricular septal defect, Multicystic kidney dysplasia, Aortic valve prolapse OMIM:619980
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Hypertrophic cardiomyopathy, ... OMIM:616897
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Ventricular septal defect, Mitral valve prolapse, Renal cyst, Renal... OMIM:617107
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis ORPHA:457193
Wolcott-Rallison Syndrome
Double outlet right ventricle, Chronic kidney disease, Atrial septal defect, Renal insufficiency ORPHA:1667
Rubinstein-Taybi Syndrome 1
Vascular ring, Atrial septal defect, Hypoplastic left heart, Hypospadias, Coarctation of aorta, S... OMIM:180849
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Thyroid lymphangiectasia, Pleural lymphangiectasia, Spina bifida occulta, V... OMIM:235510
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Spina bifida occulta OMIM:618060
Meckel Syndrome, Type 6
Aplasia of the bladder, Hydrocephalus, Anencephaly, Hepatic cysts, Renal cyst, Horseshoe kidney, ... OMIM:612284
Penile Agenesis
Urethral atresia, male, Atrial septal defect, Urethral fistula, Bilateral renal hypoplasia, Hydro... ORPHA:49
Joubert Syndrome 14
Renal cyst, Hydrocephalus, Encephalocele OMIM:614424
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary sy... ORPHA:1834
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Renal neoplasm OMIM:135150
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Ureteral stenosis, Hypercalciuria, Renal cyst, Patent ductus arterios... OMIM:615398
Facial Dysmorphism With Multiple Malformations
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arterie... OMIM:227255
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... OMIM:190685
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Holoprosencephaly 14
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Aort... OMIM:619895
Cerebrocostomandibular Syndrome
Myelomeningocele, Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Menin... ORPHA:1393
Meckel Syndrome, Type 3
Hydrocephalus, Multicystic kidney dysplasia, Occipital encephalocele OMIM:607361
Duane-Radial Ray Syndrome
Atrial septal defect, Renal agenesis, Crossed fused renal ectopia, Spina bifida occulta, Ventricu... OMIM:607323
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Abnormal vena cava morphology, Renal cyst, Horseshoe kidney ORPHA:166035
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... ORPHA:2237
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Zaki Syndrome
Renal agenesis, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis OMIM:619648
Vater/Vacterl Association
Renal agenesis, Hypospadias, Tetralogy of Fallot, Renal dysplasia, Ventricular septal defect, Ure... OMIM:192350
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Recurrent urinary tract infections, Neurogenic bladder, Umbilical hernia OMIM:619218
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Multicystic kidney dysplasia, Ab... ORPHA:2973
Fryns Syndrome
Abnormal cardiac septum morphology, Hypospadias, Multicystic kidney dysplasia, Tetralogy of Fallo... ORPHA:2059
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... OMIM:156810
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... ORPHA:105
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... OMIM:612561
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Alobar holoprosencephaly, Hypoplastic left heart, Ventricular sept... OMIM:301043
Tarp Syndrome
Hydronephrosis, Horseshoe kidney, Tetralogy of Fallot OMIM:311900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tub... ORPHA:228308
Axial Osteomalacia
Renal cyst OMIM:109130
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Micropenis OMIM:618021
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Hypoplasia of penis, Hypospadias, Dextrocardia, Hydronephrosis ORPHA:2315
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Enlarged kidney, Situs inversus totalis, Hepatic cys... OMIM:208540
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Hydronephrosis OMIM:300048
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Renal agenesis, Cystic r... OMIM:220500
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Hydroureter, Multicystic kidney dysplasia, Umbilical hernia, Megacystis ORPHA:2241
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux, Umbilical hernia OMIM:619217
Zellweger Syndrome
Ventricular septal defect, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis ORPHA:912
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Desmoid Tumor
Abnormality of the upper urinary tract, Hydronephrosis ORPHA:873
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephrit... ORPHA:157
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysplasia, Polycys... OMIM:608836
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
3-Methylglutaconic Aciduria Type 7
Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Nephrocalcinosis, Cardiomyopathy ORPHA:445038
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Ureteropelv... OMIM:280000
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Pancreatic lymphangiectasis, H... OMIM:235255
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Hypospadias, Ureteral duplication, Ren... ORPHA:96169
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Holoprosencephaly, Hydroureter, Renal dysplasia, Ventric... OMIM:146510
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele ORPHA:2031
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Vascular dilatation, Patent foramen ovale, Hydronephrosis, Umbilical hernia... OMIM:613177
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Tetralogy of Fallot, Dextrocardia, Hydronephrosis,... ORPHA:96092
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Pagod Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Situs inversus to... ORPHA:991
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:600123
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Hydronephrosis OMIM:619179
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis, Vesicoureteral ... OMIM:618460
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect OMIM:618223
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Meier-Gorlin Syndrome 7
Atrial septal defect, Micropenis, Hypospadias, Urethral stricture, Ventricular septal defect, Com... OMIM:617063
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Abnormal heart morphology OMIM:614866
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ventr... ORPHA:2092
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:250410
3Mc Syndrome 1
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:257920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of bladder morphology, Bicuspid aortic valve, Atrial septal defect, Atrioventricular ... ORPHA:453499
Otopalatodigital Syndrome Type 2
Myelomeningocele, Abnormal cardiac septum morphology, Hydrocephalus, Hypospadias, Ureteral obstru... ORPHA:90652
Genitopatellar Syndrome
Multicystic kidney dysplasia, Atrial septal defect, Hydronephrosis ORPHA:85201
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Patent ductus arteriosus, Hydronephrosis, Inte... ORPHA:250989
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ventricula... ORPHA:163979
Isotretinoin-Like Syndrome
Hydrocephalus, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Aortic valve stenosi... ORPHA:2306
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Coarctation of aorta, Renal dysplasia, Renal cyst, Patent ductus arteriosus OMIM:617260
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hydronephrosis, Micropenis ORPHA:83617
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Coarctation of aorta, Pulmonary artery atresia, Ventricular sep... ORPHA:1692
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrop... OMIM:615474
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiome... OMIM:614921
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Partial diaphragmatic absence of pe... ORPHA:2847
Cystic Echinococcosis
Ovarian cyst, Membranous nephropathy, Hepatic cysts, Renal cyst, Abnormal heart morphology ORPHA:400
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Abnormal aortic valve morphology, Dextrocardi... ORPHA:261197
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Renal cyst, Proximal tubulopathy OMIM:602579
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Atrial septal defect, Bladder trabeculation, Ureteral duplication, Renal dys... OMIM:614080
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Hydronephrosis, Micropenis OMIM:617798
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micropenis, Pulmonary lymphangiectasia, Abnormal renal morphology, Ventricular septal defect, Pan... ORPHA:1655
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Hydronephr... OMIM:272950
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Pulmonic stenosis, Unilateral renal agenesis, Hypospadias, Pa... OMIM:616737
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Recurrent urinary tract infection... OMIM:610443
Opitz Gbbb Syndrome
Atrial septal defect, Hypospadias, Abnormality of the urinary system, Coarctation of aorta, Ventr... ORPHA:2745
Craniofacioskeletal Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydroneph... OMIM:300712
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Micropenis, Tetralogy of Fallot, ... OMIM:618280
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Hyposp... ORPHA:251071
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Trisomy 18
Atrial septal defect, Holoprosencephaly, Abnormality of the upper urinary tract, Anencephaly, Ven... ORPHA:3380
Trisomy 20P
Hypospadias, Abnormality of the ureter, Abnormality of the kidney, Multiple renal cysts, Abnormal... ORPHA:261318
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Ventricular septal def... ORPHA:464311
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney, ... OMIM:612562
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Trisomy 8P
Hydrocephalus, Peripheral pulmonary artery stenosis, Micropenis, Abnormal left ventricle morpholo... ORPHA:264450
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Holoprosencep... OMIM:214800
Toluene Embryopathy
Abnormal localization of kidney, Hydronephrosis ORPHA:1920
Chime Syndrome
Pulmonary valve atresia, Abnormality of the kidney, Tetralogy of Fallot, Ventricular septal defec... ORPHA:3474
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Megacystis, Hydroureter, Hydronephrosis, Fetal megacystis OMIM:619362
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Branchial fistula, Renal ... OMIM:113650
Mesomelia-Synostoses Syndrome
Hydronephrosis, Umbilical hernia ORPHA:2496
Baller-Gerold Syndrome
Abnormal cardiac septum morphology, Abnormality of the ureter, Abnormal localization of kidney, H... ORPHA:1225
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplasia of penis, Tetralogy of Fallot ORPHA:2328
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... OMIM:137920
Meckel Syndrome 14
Single ventricle, Polycystic kidney dysplasia, Occipital encephalocele, Holoprosencephaly OMIM:619879
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly ORPHA:2211
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydronephrosis, Hydranencephaly ORPHA:2839
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydronephrosis, ... OMIM:214100
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... ORPHA:49041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Horseshoe kidney, Hydronephrosis, Abnorma... ORPHA:2953
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Abnormal right ventricle morphology, Spina bifida o... ORPHA:500095
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... OMIM:249420
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Urethral stricture, Hematuria, Renal duplication, Renal dysp... ORPHA:79403
Kabuki Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Renal hypoplasia/aplasia, Hypoplasia of penis,... ORPHA:2322
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Ureteropelvic junction obstruction, Hydronephro... ORPHA:444072
7Q11.23 Microduplication Syndrome
Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Unilateral renal agenesis, Hypospadia... ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Robinow Syndrome
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Micropenis, Pulmonic stenosis, ... ORPHA:97360
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Arteritis, Ureth... ORPHA:449395
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Aminoaciduria ORPHA:634
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Congenital megaureter, Restrictive cardiomyopathy, Abnormality of the urina... ORPHA:369837
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Ventricular septal def... ORPHA:464306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydroureter, Hydronephrosis OMIM:619431
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria,... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis, Abnormal heart morphology OMIM:608779
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Hydronephrosis OMIM:617913
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Left superior vena cava drainin... ORPHA:464738
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Pulmonic stenosis, Recurrent urinary tract infections, Urachus fis... OMIM:612541
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Renal dysplasia OMIM:300968
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Tetralogy of F... ORPHA:84064
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Atrial septal defect, Renal agenesis, Multicystic kidney dysplasia, Cro... ORPHA:2538
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pa... OMIM:600460
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Atrial septal defect, Hypoplasia of penis, Multicystic kidne... ORPHA:1507
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology OMIM:214110
Hardikar Syndrome
Atrial septal defect, Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder,... OMIM:301068
Floating-Harbor Syndrome
Epididymal cyst, Atrial septal defect, Renal agenesis, Hypospadias, Coarctation of aorta, Tetralo... ORPHA:2044
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Stroke-like episode, Renal cyst, Cardiomyopathy, Proteinuria, Proximal tubulo... OMIM:212065
Microphthalmia, Syndromic 2
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Hy... OMIM:300166
Alg9-Cdg
Ureteral hypoplasia, Atrial septal defect, Hypoplasia of the bladder, Enlarged kidney, Ventricula... ORPHA:79328
Hydrolethalus Syndrome 1
Hypospadias, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Ventricular septal defect, Compl... OMIM:236680
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia OMIM:614091
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Tetra... ORPHA:2255
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Anencephaly, Cystic renal dysplasia, Ventricular septal defect,... OMIM:269860
Cardiofaciocutaneous Syndrome
Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hydronephrosis, Abnormal heart valve morp... ORPHA:1340
Branchio-Oculo-Facial Syndrome
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1297
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Horseshoe kidney, Hydronephrosis, Persistent left supe... ORPHA:2886
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysplasia, Glutari... OMIM:231680
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Cardiac rhabdomyoma, Pulmonary lymphangio... OMIM:191100
Tuberous Sclerosis Complex
Chronic kidney disease, Renal angiomyolipoma, Abnormality of the kidney, Noncommunicating hydroce... ORPHA:805
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis OMIM:615926
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
Frontometaphyseal Dysplasia 1
Mitral valve prolapse, Hydroureter, Cor pulmonale, Hydronephrosis OMIM:305620
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, Multicystic kidney d... ORPHA:79404
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Hypoplasia of penis, Coarctation of ao... ORPHA:96147
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hydronephrosis, Hypertrophic cardiomyopathy OMIM:115150
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Histiocytoid Cardiomyopathy
Hydrocephalus, Ventricular septal defect, Renal cyst, Polycystic ovaries, Stroke-like episode, Ca... ORPHA:137675
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Micropenis ORPHA:364028
Cerebrocostomandibular Syndrome
Atrial septal defect, Ventricular septal defect, Renal cyst, Horseshoe kidney, Ectopic kidney, Pa... OMIM:117650
Erdheim-Chester Disease
Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, Renal insufficiency, ... ORPHA:35687
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Hypospadias, Coarctation of aorta, Te... ORPHA:2008
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Coarctation of aorta... ORPHA:2308
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Hypospadias, Abnormality of the kidney, Hepatic cysts... ORPHA:1505
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Ventricular septal defect, Polycystic kidney dysplasia, Patent ductus ... OMIM:606232
Hajdu-Cheney Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Hypospadias, Renal cyst, Patent ductus arterio... OMIM:102500
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Hypoplasia of the bladder,... OMIM:614527
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Unilateral renal agenesis, Single ventricle, Hydronephrosis, ... OMIM:308050
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Horseshoe kidney, Aqueductal stenosis, Hydronephrosis ORPHA:93260
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal angiomyolipoma, Renal cyst, Renal cell c... OMIM:613254
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... OMIM:613159
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Micropenis, Arteria lusoria, Patent foramen ovale, Hydronephrosis, Pelvic kidney, Vesicoureteral ... OMIM:618653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Unilateral renal dysplasia, Peripheral pulmonary artery stenosis, Atrial septal defect, Congenita... ORPHA:280633
Joubert Syndrome 2
Hydrocephalus, Nephronophthisis, Renal cyst, Renal insufficiency, Encephalocele OMIM:608091
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Unilateral renal agenesis... ORPHA:90324
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... OMIM:243910
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Stroke, Coarc... OMIM:118450
Alveolar Echinococcosis
Abnormality of bladder morphology, Abnormal pericardium morphology, Hepatic cysts, Renal cyst, Pa... ORPHA:284
Kaposiform Lymphangiomatosis
Pancreatic cysts, Epidural hemorrhage, Multiple renal cysts, Abnormal lymphatic vessel morphology... ORPHA:464329
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
Oeis Complex
Myelomeningocele, Hydrocephalus, Vesicovaginal fistula, Micropenis, Renal agenesis, Hydroureter, ... OMIM:258040
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Renal hypoplasia/aplasia, Atrial septal defect, Pulmonic stenosis, Abnormal renal ... ORPHA:363700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Encephalocele, Renal hypoplasia, Patent ductus arteriosus OMIM:616300
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Hypospadias, Recur... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Hypospadias, Recur... ORPHA:363958
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Joubert Syndrome 21
Renal cyst, Occipital encephalocele, Hyperechogenic kidneys OMIM:615636
Distal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... ORPHA:18
Cousin Syndrome
Hydrocephalus, Hydranencephaly, Hydronephrosis OMIM:260660
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Apert Syndrome
Ventricular septal defect, Hydrocephalus, Overriding aorta, Hydronephrosis OMIM:101200
Fryns Syndrome
Atrial septal defect, Renal agenesis, Hypospadias, Ureteral duplication, Arrhinencephaly, Ventric... OMIM:229850
15Q Overgrowth Syndrome
Hydrocephalus, Nephroblastoma, Abnormal renal morphology, Horseshoe kidney, Ureterovesical stenos... ORPHA:314585
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Urinary incontinence ORPHA:476126
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis ORPHA:100077
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hydrocephalus, Ventricular septal defect, Umbilical hernia, Tetralogy of Fallo... ORPHA:567
46,Xy Sex Reversal 4
Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasia OMIM:154230
Micro Syndrome
Abnormal localization of kidney, Hypoplasia of penis, Hydronephrosis ORPHA:2510
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Micropenis, Polycystic kidney dysplasia, Patent ductus ... ORPHA:96149
Cornelia De Lange Syndrome 1
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Ventricul... OMIM:122470
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Unilateral renal agenesis, Micropenis, Hy... OMIM:270400
Simpson-Golabi-Behmel Syndrome
Atrial septal defect, Hypoplasia of penis, Hypospadias, Hydroureter, Multicystic kidney dysplasia... ORPHA:373
Bardet-Biedl Syndrome
Nephrotic syndrome, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:110
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Atrial septal defect, Hypoplasia of penis, Atrioventricular canal defec... ORPHA:818
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins OMIM:153400
Lymphangioleiomyomatosis
Abnormal urinary color, Hydrocephalus, Chylopericardium, Renal neoplasm, Renal angiomyolipoma, He... ORPHA:538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... OMIM:253800
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Hydronep... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Hydronep... ORPHA:352665
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Vascul... OMIM:311200
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Umbilical hernia, Abnormal aortic morphology ORPHA:1001
Doors Syndrome
Double outlet right ventricle, Increased urine alpha-ketoglutarate concentration, Abnormality of ... ORPHA:79500
Microphthalmia, Lenz Type
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:568
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts ORPHA:2869
Campomelia, Cumming Type
Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts ORPHA:1318
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney OMIM:608022