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
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Uni... OMIM:618845
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Hydronephrosis, Ventricular septal defect ORPHA:251076
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Mungan Syndrome
Renal hypoplasia, Pulmonic stenosis, Vesicoureteral reflux, Perimembranous ventricular septal defect OMIM:611376
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic ste... OMIM:615382
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot ORPHA:3033
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Thomas Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia ORPHA:3316
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst, Truncus arteriosus, Ventricular septal defect OMIM:228940
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Abnormal heart morphology OMIM:613390
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Recurrent urinary tract infect... ORPHA:363444
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tu... OMIM:610205
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Tetralogy of Fallot, Hy... ORPHA:1926
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Hydrocephalus, ... OMIM:314390
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydroureter, Arteria lusoria, Urethral diverticulum, Hydronephrosis, Mitral st... OMIM:212093
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double ... OMIM:618164
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesicoureteral reflu... ORPHA:1166
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
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
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Unilateral renal agenesis, Truncus arteriosus, Ventricular septal defect OMIM:601355
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Cerebral berry aneurysm, Polycystic kidney dysplasia, Mitral valve prolapse OMIM:173900
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Hydronephrosis, Ventricular septal defect OMIM:607598
Prune Belly Syndrome
Abnormal heart morphology, Urethral valve, Hydroureter, Patent ductus arteriosus, Hydronephrosis,... OMIM:100100
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Renal cyst, Hydrocephalus OMIM:611134
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Renal cyst, Ventricular septal defect OMIM:263630
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Urethral stenosis, Hydronephrosis, Hypoplasti... ORPHA:1727
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis, Hydrocephalus ORPHA:251046
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Abnormal cardiac septum morphology, Renal cyst OMIM:615583
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Recurrent urinary tract infections, Dextrocardia, Polycystic kidney dyspl... OMIM:613095
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Horseshoe kidney, Renal malr... OMIM:601186
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Pulmonic ste... OMIM:615415
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal renal morphology, Atrial septal defect, Overriding aorta, Abnormal heart morphology, Ven... ORPHA:477817
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Prune Belly Syndrome
Atrial septal defect, Urogenital sinus anomaly, Hydroureter, Ventricular septal defect, Recurrent... ORPHA:2970
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Vascular dilatation, Nephropathy, Dilatation of the cerebral artery, Renal cyst, Renal... OMIM:611773
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Ventricular septal defect, Umbilical hernia, Perimembranous ventricular septal de... OMIM:301040
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Recurrent urinary... ORPHA:730
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation, Renal corticomedullary cysts, Renal insufficiency... OMIM:219730
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Renal tubular dysf... OMIM:614886
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Vascular dilatation, Nephropathy, Renal cyst, Chronic kidney ... OMIM:617056
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal cardiac sep... OMIM:618494
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Increased level of ri... ORPHA:488618
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus, Abnormal localizati... ORPHA:83473
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Mckusick-Kaufman Syndrome
Glandular hypospadias, Atrial septal defect, Urogenital sinus anomaly, Ventricular septal defect,... ORPHA:2473
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Joubert Syndrome 18
Horseshoe kidney, Ventricular septal defect OMIM:614815
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
1Q21.1 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Maternal Phenylketonuria
Abnormal renal morphology, Abnormal heart morphology, Ventricular septal defect, Double outlet ri... ORPHA:2209
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Horseshoe kidney, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Re... ORPHA:508498
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis, Hydrocephalus OMIM:615287
3C Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal mi... ORPHA:7
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Czeizel-Losonci Syndrome
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Dextrocardia, Hydronephro... ORPHA:2437
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hydronephr... OMIM:613001
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Pulmo... OMIM:612946
Hardikar Syndrome
Patent foramen ovale, Hydroureter, Ventricular septal defect, Recurrent urinary tract infections,... OMIM:612726
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Abnormality of the urinary system, Patent ductus arteriosus, T... ORPHA:2184
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Distal Tetrasomy 15Q
Atrial septal defect, Horseshoe kidney, Hydrocephalus, Abnormal heart morphology, Patent ductus a... ORPHA:314588
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Duplicated collecting system, Pulmonic stenosis, Vesicoureteral reflux... OMIM:301056
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis, Anencephaly OMIM:614175
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Complete at... OMIM:264480
46,Xx Sex Reversal 5
Secundum atrial septal defect, Urogenital sinus anomaly, Hypoplastic left heart, Ventricular sept... OMIM:618901
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Abnormal cardiac septum morphology, Hydronephrosis OMIM:616449
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Thakker-Donnai Syndrome
Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Communicating hydrocephalus, Tran... ORPHA:1780
Meacham Syndrome
Anomalous pulmonary venous return, Crossed fused renal ectopia, Horseshoe kidney, Situs inversus ... ORPHA:3097
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Patent ductus arteriosus, Umbilical hernia, Hydronephrosis, Mitral valve p... OMIM:104350
Feingold Syndrome Type 1
Nephritis, Tricuspid atresia, Horseshoe kidney, Interrupted aortic arch, Abnormal heart morpholog... ORPHA:391641
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, Hypospadias, Tetralogy of Fallot, Transposition ... ORPHA:1913
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Trisomy 13
Multiple renal cysts, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:3378
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Trisomy 1Q
Ventricular septal defect, Congenital megaureter, Patent ductus arteriosus, Multicystic kidney dy... ORPHA:261344
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Hydranencephaly, Renal cyst, Ureteral agenesis OMIM:236500
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency, Cardi... OMIM:614922
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, E... ORPHA:401935
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Tetralogy of Fallot, Hypoplasia of penis ORPHA:1381
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Bor Syndrome
Renal insufficiency, Branchial cyst, Multicystic kidney dysplasia, Ureteropelvic junction obstruc... ORPHA:107
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hydronephrosis, Abnormal common caroti... ORPHA:449400
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubular atrophy, Nephrotic s... OMIM:616730
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Umbilical hernia OMIM:618651
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Trisomy 17P
Urethral valve, Patent ductus arteriosus, Urethral stenosis, Aortic valve stenosis, Hydronephrosi... ORPHA:261290
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Mosaic Trisomy 9
Spina bifida, Multiple renal cysts, Horseshoe kidney, Atrial septal defect, Ventricular septal de... ORPHA:99776
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Vacterl/Vater Association
Renal agenesis, Anencephaly, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic ki... ORPHA:887
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Diabetes Insipidus, Neurohypophyseal Type
Polyuria, Hydronephrosis OMIM:304900
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Serkal Syndrome
Hypoplasia of the bladder, Ventricular septal defect, Abnormal penis morphology, Pulmonic stenosi... ORPHA:139466
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Hypospadias OMIM:611209
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Multicystic kidney dyspla... OMIM:267010
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
Marden-Walker Syndrome
Renal agenesis, Situs inversus totalis, Hydrocephalus, Hydroureter, Ventricular septal defect, Ab... ORPHA:2461
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia OMIM:600666
Joubert Syndrome 20
Renal cyst OMIM:614970
Kleefstra Syndrome
Ventricular septal defect, Coarctation of aorta, Bicuspid aortic valve, Vesicoureteral reflux, Re... ORPHA:261494
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Patent ductus arteriosus, Umbilical hernia, Vesicoureteral reflux... OMIM:618454
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Hydronephrosis, Umbilical hernia ORPHA:3079
Noonan Syndrome 4
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Ureteral dupl... OMIM:610733
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Hypospadias, Hydrocephalus OMIM:218350
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Umbilical... OMIM:201000
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Ventricular septal defect, Recurrent urinary tract infections, Patent ductus ar... OMIM:613680
Penile Agenesis
Unilateral renal hypoplasia, Atrial septal defect, Hydroureter, Bilateral renal agenesis, Cystic ... ORPHA:49
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Pericardial effusion, Umbilica... OMIM:235510
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Hypospadias, Renal agenesis, Hydrocephalus... OMIM:313850
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Bifid ureter, Ventricular septal defect, Renal dysplasia, Nephroblastoma, Rena... OMIM:617107
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Atrial septal defect, Hydronephrosis, Ventricular septal defect OMIM:618950
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Cardiomyopathy, Hydroureter OMIM:222300
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hypospadias, Micropenis, Hypertrophic ca... OMIM:616897
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia OMIM:608776
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Abnorm... ORPHA:163956
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Genitopalatocardiac Syndrome
Hypospadias, Abnormal cardiac septum morphology, Hydrocephalus, Multicystic kidney dysplasia ORPHA:2075
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Atrial septal defect, Ventricul... OMIM:607323
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Wolcott-Rallison Syndrome
Renal insufficiency, Double outlet right ventricle, Chronic kidney disease, Atrial septal defect ORPHA:1667
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hyd... ORPHA:2237
Pentalogy Of Cantrell
Atrial septal defect, Renal agenesis, Ventricular septal defect, Abnormal pericardium morphology,... ORPHA:1335
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Adams-Oliver Syndrome 6
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect OMIM:616589
Meckel Syndrome, Type 2
Meningocele, Renal cyst, Anencephaly OMIM:603194
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Hydronephrosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Unilateral renal agenesis, Hydrocephalus, Hydronephrosis OMIM:609757
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ureteral stenos... OMIM:615398
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal dysplasia, Renal cyst, Mitral stenosis, Hypoplastic left heart, C... OMIM:617260
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Patent ductus arteriosus, Cor triatriatum, Pulmonic stenosis, Hydronephrosi... OMIM:612541
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Hydrocephalus, Transposition of t... OMIM:227255
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Patent ductus arteriosus, Alobar holopros... OMIM:301043
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Umbilical hernia, Hydronephrosis OMIM:619218
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Mental Retardation, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Multicystic kidney dysplasia, Meningocele, Hydranencepha... ORPHA:1393
Vater/Vacterl Association
Spina bifida, Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Ureteropelvic ... OMIM:192350
Tarp Syndrome
Horseshoe kidney, Tetralogy of Fallot, Hydronephrosis OMIM:311900
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Spina bifida occulta OMIM:618060
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Hydronephrosis, Polycystic kidney dysplasia, Cardiomegal... OMIM:608836
Zellweger Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Multicystic kidney dysplasia ORPHA:912
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hydrocephalus OMIM:617866
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Multicystic kidney dysplasia, Abnorm... ORPHA:2059
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Thyroid lymphangiectasia, Hydronephrosis,... OMIM:235255
Axial Osteomalacia
Renal cyst OMIM:109130
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Micropenis, Ventricular septal defect OMIM:618021
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis, Umbilical hernia OMIM:619217
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Enlarged kidney, Patent ductus arteriosus, Renal dysplasia, Ureteral atresi... OMIM:208540
Distal Monosomy 15Q
Mitral atresia, Double outlet right ventricle with doubly committed ventricular septal defect and... ORPHA:1596
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Hydroureter, Renal hypoplasia, Ventricular septal defect, Hol... OMIM:146510
Giant Cell Arteritis
Hematuria, Pericarditis, Aortic dissection, Double outlet right ventricle with subpulmonary ventr... ORPHA:397
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:228308
Johanson-Blizzard Syndrome
Dextrocardia, Hydronephrosis, Hypoplasia of penis, Hypospadias, Abnormal cardiac septum morphology ORPHA:2315
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta, Hydroureter OMIM:616559
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Abnormality of the urinary system, Dextrocardia, Hydronephrosis, Tetra... ORPHA:96092
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Single ventricle, Umbilical hernia, Hydronephrosis, Renal hypoplasia/aplasia, Abn... OMIM:308050
Cutis Laxa, Autosomal Recessive, Type Ic
Umbilical hernia, Bladder diverticulum, Vascular dilatation, Hydronephrosis, Pulmonary artery ste... OMIM:613177
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Duplicated collecting system, Peripheral pulmonary artery stenosis, Ur... OMIM:280000
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Vesicoureteral reflux, Hydronephrosis, Bicuspid aortic valve,... ORPHA:96169
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Patent ductus arteriosus, Pulmonary artery sten... OMIM:265380
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse, Hydronephrosis, Hydroureter OMIM:305620
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Patent ductus arteriosus, Multicystic kidney dyspla... OMIM:164210
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Atrioventricular canal de... OMIM:600123
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect, Arrhinencephaly, Unilate... OMIM:156810
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Multicystic kidney dysplasia OMIM:300209
Methimazole Embryofetopathy
Hypospadias, Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Umbilical hernia, Multicystic kidney dysplasia, Neoplasm of the heart ORPHA:2241
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Renal insufficiency, Nephrocalcinosis, Cardiomyopathy ORPHA:445038
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Tetralogy of Fallot, Micropenis OMIM:617926
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Ventricular septal defect, Bilateral rena... ORPHA:411709
Khan-Khan-Katsanis Syndrome
Abnormal heart morphology, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Hyd... OMIM:618460
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Vesicour... OMIM:617063
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Hydronephrosis OMIM:619179
Joubert Syndrome 14
Renal cyst, Hydrocephalus OMIM:614424
Meckel Syndrome, Type 6
Renal cyst, Hydrocephalus, Anencephaly OMIM:612284
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Abnormal heart morphology OMIM:614866
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Micropenis, Hydronephrosis ORPHA:83617
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:618223
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst, Ventricular septal defect OMIM:250410
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Patent forame... OMIM:615474
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Vascular dilatation, Renal cyst, Stage 5 chronic kid... OMIM:216360
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Focal Dermal Hypoplasia
Spina bifida, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Umbilical he... ORPHA:2092
Genitopatellar Syndrome
Atrial septal defect, Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular septal defect, Ve... ORPHA:453499
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Abnormal renal morphology, Ventricular septal defect, Hydronephrosis... ORPHA:1655
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hydronephrosis, Spina ... OMIM:257920
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect, Cystic renal dysplasia, Patent ductus arteriosus... OMIM:220500
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Bladder trabeculation, Ureteral hypoplasia, Renal... OMIM:614080
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Renal cyst, Coarctation of a... ORPHA:1692
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Diamond-Blackfan Anemia 5
Hypospadias, Ventricular septal defect OMIM:612528
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Abnormal heart valve morphology, Hydronephrosis, Hypospadias, Abnormal card... ORPHA:90652
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosu... OMIM:300712
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Mu... ORPHA:991
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosu... ORPHA:163979
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Pulmonic stenosis, Hydronephrosis, Hypospadi... OMIM:616737
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Ventricular septal defect, Patent ductus arteriosus, Aminoaciduria, Hydronephrosis, ... OMIM:214100
Teebi-Shaltout Syndrome
Horseshoe kidney, Ventricular septal defect, Aortic valve stenosis, Hydronephrosis, Ureteral sten... OMIM:272950
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Floating-Harbor Syndrome
Atrial septal defect, Coarctation of aorta, Umbilical hernia, Hydronephrosis, Mesocardia, Congeni... OMIM:136140
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Pa... ORPHA:2847
Campomelic Dysplasia
Hydronephrosis, Hydrocephalus, Abnormal heart morphology OMIM:114290
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Hypoplasia of penis, Hypo... ORPHA:77298
Trisomy 20P
Spina bifida, Multiple renal cysts, Umbilical hernia, Abnormality of the ureter, Abnormal localiz... ORPHA:261318
Trisomy 8P
Peripheral pulmonary artery stenosis, Fetal pyelectasis, Hydronephrosis, Dysplastic aortic valve,... ORPHA:264450
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal aortic valve morphology, Multicystic ki... ORPHA:261197
Baller-Gerold Syndrome
Abnormal localization of kidney, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis... ORPHA:1225
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Chime Syndrome
Pulmonary valve atresia, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Abnormal... ORPHA:3474
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent urinary tract infections, Patent ductu... OMIM:610443
Mesomelia-Synostoses Syndrome
Hydronephrosis, Umbilical hernia ORPHA:2496
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Aortic valve sten... ORPHA:464311
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Trisomy 18
Spina bifida, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Anencephaly, Hy... ORPHA:3380
Kabuki Syndrome
Crossed fused renal ectopia, Coarctation of aorta, Duplicated collecting system, Abnormal localiz... ORPHA:2322
Charge Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Renal hypoplasia, Arrhinenceph... OMIM:214800
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Vesicoureteral reflux, Hydronephrosis, Abnorma... ORPHA:250989
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Urethral stricture, Apl... ORPHA:79403
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney ORPHA:1988
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Coarctation of aorta, Ren... OMIM:617159
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Unilateral renal agenesis, Enur... ORPHA:96121
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus, Hypoplasia of penis ORPHA:2328
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... OMIM:612562
Meckel Syndrome, Type 3
Hydrocephalus, Multicystic kidney dysplasia OMIM:607361
Apert Syndrome
Overriding aorta, Hydronephrosis, Hydrocephalus, Ventricular septal defect OMIM:101200
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Atrial septal defect, Webbed penis, Abnormal heart mo... ORPHA:97360
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Branchial cyst, Renal steatosis, ... OMIM:113650
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Atrial septal defect, Hydronephrosis, Patent ductus arteriosus OMIM:300968
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Ureteropelvic junction obstruction, Hydronephrosis, Mitral valve prola... ORPHA:444072
Opitz Gbbb Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:2745
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Congenital megaureter, Restrictive cardiomyopath... ORPHA:369837
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Abnormal heart morphology, Abnormal heart valve morphology, Functional abnormal... ORPHA:2953
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Ventricular septal defect, Abnormal right ventr... ORPHA:500095
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Frank-Ter Haar Syndrome
Atrial septal defect, Mitral valve prolapse, Double outlet right ventricle, Ventricular septal de... OMIM:249420
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydronephrosis, Hydrocephalus ORPHA:2839
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Aortic valve sten... ORPHA:464306
Cystic Echinococcosis
Renal cyst, Membranous nephropathy, Abnormal heart morphology ORPHA:400
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Male urethral meatus stenosis, Left superior ven... ORPHA:464738
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis, Abnormal heart morphology OMIM:608779
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Abnormal heart morphology, Glutaric aciduria, 3-Methylglutaric aciduria, Polycyst... ORPHA:26791
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Cardiomyopathy, Prote... OMIM:212065
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst, Hydrocephalus OMIM:608091
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Syndromic Diarrhea
Atrial septal defect, Abnormal heart morphology, Renal hypoplasia, Ventricular septal defect, Pat... ORPHA:84064
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Floating-Harbor Syndrome
Atrial septal defect, Renal agenesis, Coarctation of aorta, Hydronephrosis, Renal cyst, Stage 5 c... ORPHA:2044
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Multicystic kidney dysplasia OMIM:618829
Orotic Aciduria
Atrial septal defect, Hematuria, Ventricular septal defect, Orotic acid crystalluria, Oroticaciduria OMIM:258900
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangio... OMIM:191100
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology OMIM:214110
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Aplasia/Hypoplasia of the bladder, Hydroureter, Renal tubular epit... ORPHA:79404
Cardiofaciocutaneous Syndrome
Atrial septal defect, Abnormal heart valve morphology, Pulmonic stenosis, Hydronephrosis, Hydroce... ORPHA:1340
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Epispadias, Exencephaly, Hypospadias ORPHA:2211
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Holoprosencephaly, Coarctation... OMIM:270400
Webb-Dattani Syndrome
Neurogenic bladder, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Jacobsen Syndrome
Spina bifida, Ventricular septal defect, Multicystic kidney dysplasia, Aortic valve stenosis, Hyd... ORPHA:2308
Tarp Syndrome
Atrial septal defect, Horseshoe kidney, Hydronephrosis, Persistent left superior vena cava, Tetra... ORPHA:2886
Cerebrocostomandibular Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Ecto... OMIM:117650
Campomelia, Cumming Type
Polycystic kidney dysplasia OMIM:211890
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Kleefstra Syndrome Due To 9Q34 Microdeletion
Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenosis, Vesicoureteral r... ORPHA:96147
Pfeiffer Syndrome Type 3
Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Aqueductal stenosis ORPHA:93260
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Aortic aneurysm, Renal angiomyolipoma, Renal cell carcinoma, Chronic kidney ... ORPHA:805
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Vesicoureteral reflux, Hydronephrosis, Pelvic kidney, Patent foramen ovale, Micr... OMIM:618653
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Microphthalmia, Syndromic 2
Atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent ductus arteriosus,... OMIM:300166
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Mitral... ORPHA:2008
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Pulmonic stenosis, Hydronephrosis, Hydrocephalus, Hypertrophic cardiomyopathy OMIM:115150
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Arrhinencephaly, Anencephaly, ... OMIM:236680
Erdheim-Chester Disease
Dysuria, Abnormal aortic valve morphology, Abnormal pericardium morphology, Hydronephrosis, Renal... ORPHA:35687
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Umbilical hernia, Renal cyst, Hypospadias, Abnormal cardiac septum morp... OMIM:102500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Atrial septal defect, Mitral valve prolapse, Abnormal heart morphology... ORPHA:363700
Autosomal Recessive Robinow Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal ao... ORPHA:1507
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Double outlet right ventricle with subpulmonary ve... ORPHA:2331
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Renal agenesis, Truncus arteriosus, Atrial septal ... ORPHA:2538
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, Polycystic kidney dys... OMIM:606232
Oeis Complex
Renal agenesis, Hydroureter, Duplicated collecting system, Hydronephrosis, Vesicovaginal fistula,... OMIM:258040
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Axial malrotation of the kidney, Tetralogy of Fallot, Abnormal cardiac septum m... ORPHA:3320
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ventricular ... ORPHA:1329
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Aortic aneurysm, Hydrocephalus, Abnormal heart morphology, Ve... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Aortic aneurysm, Hydrocephalus, Abnormal heart morphology, Ve... ORPHA:363958
Alagille Syndrome 1
Atrial septal defect, Focal segmental glomerulosclerosis, Renal hypoplasia, Ventricular septal de... OMIM:118450
Tuberous Sclerosis 2
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangio... OMIM:613254
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Abnormal renal collecting system morphology, Hydroureter, Hypertrophy of th... ORPHA:280633
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Occipital meningocele, Renal tubular atrophy, Rena... OMIM:243910
Distal Monosomy 12Q
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Ectopi... ORPHA:96149
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Ileal Neuroendocrine Tumor
Pulmonic stenosis, Hydronephrosis, Tricuspid stenosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Pulmonic stenosis, Hydronephrosis, Tricuspid stenosis ORPHA:100077
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Pulmonary artery stenosis, Hypospadias, Ren... OMIM:611812
Short Rib-Polydactyly Syndrome
Nephronophthisis, Urogenital sinus anomaly, Situs inversus totalis, Abnormal heart morphology, Po... ORPHA:1505
Cockayne Syndrome Type 3
Neurogenic bladder, Premature coronary artery atherosclerosis, Hydroureter, Renal hypoplasia, Uni... ORPHA:90324
Micro Syndrome
Hydronephrosis, Hypoplasia of penis, Abnormal localization of kidney ORPHA:2510
Simpson-Golabi-Behmel Syndrome
Atrial septal defect, Hydroureter, Ventricular septal defect, Umbilical hernia, Multicystic kidne... ORPHA:373
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Renal hypoplasia, Cystic renal dysplasia, Holoprosencephaly, Patent du... OMIM:269860
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Hydronephrosis, Umbilical hernia, Nephrotic syndrome OMIM:601776
15Q Overgrowth Syndrome
Abnormal renal morphology, Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephro... ORPHA:314585
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Okamoto Syndrome
Unilateral renal hypoplasia, Abnormal heart morphology, Ventricular septal defect, Abnormal mitra... ORPHA:2729
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Joubert Syndrome 1
Renal cyst, Nephropathy, Occipital myelomeningocele OMIM:213300
Cousin Syndrome
Hydranencephaly, Hydronephrosis, Hydrocephalus OMIM:260660
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Complete atrioventricular canal defect ORPHA:476126
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Ventricular septal defect, Renal hypoplasia, Vesicoureteral reflux, Re... OMIM:122470
Fryns Syndrome
Atrial septal defect, Renal agenesis, Ventricular septal defect, Arrhinencephaly, Renal cyst, Hyd... OMIM:229850
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Abn... ORPHA:818
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular septal defect, Ve... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular septal defect, Ve... ORPHA:352665
Orofaciodigital Syndrome I
Abnormal heart morphology, Vascular dilatation, Polycystic kidney dysplasia, Myelomeningocele, Hy... OMIM:311200
Histiocytoid Cardiomyopathy
Renal cyst, Cardiomegaly, Hydrocephalus, Ventricular septal defect ORPHA:137675
Lymphangioleiomyomatosis
Renal neoplasm, Multiple renal cysts, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Pu... ORPHA:538
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:353281
Tetrasomy 9P
Multiple renal cysts, Horseshoe kidney, Pericarditis, Abnormal mitral valve morphology, Juxtaduct... ORPHA:3310
Charge Syndrome
Horseshoe kidney, Interrupted aortic arch, Holoprosencephaly, Abnormal aortic valve morphology, P... ORPHA:138
22Q11.2 Deletion Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Hydrocephalus, Multiple renal cysts, Truncus art... ORPHA:567
Doors Syndrome
Arrhinencephaly, Sirenomelia, Abnormality of the urinary system, Double outlet right ventricle, H... ORPHA:79500
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Nephroblastoma, Umbilical hernia, Multicystic kidney dysplasia ORPHA:1001
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, Renal cyst, Patent fo... OMIM:616975
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Kaposiform Lymphangiomatosis
Pericardial effusion, Multiple renal cysts, Abnormal lymphatic vessel morphology, Enlarged kidney ORPHA:464329
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Holoprosencephaly, Abnormal aortic morphology, Multicystic kidney dysplasia... ORPHA:1052
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Multicystic kidney dy... ORPHA:93111
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis, H... ORPHA:487796
Peters Plus Syndrome
Hydrocephalus, Abnormal pulmonary vein morphology, Patent ductus arteriosus, Umbilical hernia, Mu... ORPHA:709
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Holoprosencephaly 3
Holoprosencephaly, Hydronephrosis OMIM:142945
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement membrane ... OMIM:613159
Frontometaphyseal Dysplasia
Ureteral obstruction, Abnormal heart morphology, Urethral stenosis, Hydronephrosis, Spina bifida ... ORPHA:1826
Alveolar Echinococcosis
Abnormality of bladder morphology, Renal cyst, Abnormal pericardium morphology ORPHA:284