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, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal... ORPHA:1909
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Megabladder, Congenital
Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non... OMIM:618719
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Nephronophthisis 14
Situs inversus totalis, Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy o... OMIM:220210
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus... OMIM:615996
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux OMIM:611376
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r... OMIM:179613
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Diabetic Embryopathy
Transposition of the great arteries, Renal hypoplasia/aplasia, Ureteral duplication, Hydrocephalu... ORPHA:1926
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus OMIM:615542
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Renal cyst, Atrial septal defect, Ventric... OMIM:611134
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,... ORPHA:1166
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilat... OMIM:306955
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly OMIM:601355
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:614815
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Hypertrophic cardiomyopathy, Renal cyst, Hyperechoge... OMIM:619902
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal... OMIM:173900
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Joubert Syndrome 15
Exencephaly, Nephronophthisis, Micropenis OMIM:614464
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Abnormal heart morphology, Hydronephrosis, Renal cyst OMIM:613390
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
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
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra... ORPHA:730
Joubert Syndrome 16
Nephronophthisis, Encephalocele, Renal cyst OMIM:614465
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Umbilical hernia OMIM:618205
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Tetralogy of Fallot... ORPHA:1727
Meckel Syndrome, Type 8
Occipital encephalocele, Enlarged kidney, Encephalocele, Polycystic kidney dysplasia, Pericardial... OMIM:613885
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Meningocele, Hydronephrosis, Bicuspid aortic ... OMIM:620511
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydrocephalus, Hydronephrosis, Patent ductus arteriosus, Atrial septal d... OMIM:614846
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dilatation of the cerebral artery OMIM:174050
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ureteral duplication, Double inlet left ventricle, Dextrocardia, P... OMIM:270100
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c... ORPHA:477817
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia... OMIM:314390
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of... OMIM:618316
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Hydronephrosis, Te... ORPHA:210122
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Hydronephrosis, Myelomeningocele OMIM:620141
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Vascular dilatation, Hydrocephalus, Hyperechogenic kidneys, Ventricul... OMIM:219730
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney OMIM:613630
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re... OMIM:611773
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele ORPHA:217
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma... ORPHA:2473
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Neph... OMIM:617056
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Trisomy X
Renal hypoplasia/aplasia, Atrial septal defect, Ventricular septal defect, Multicystic kidney dys... ORPHA:3375
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Hoxha-Aliu Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Hydronephrosis, Vesicoureteral re... OMIM:620662
Microphthalmia, Syndromic 9
Renal malrotation, Right aortic arch with mirror image branching, Hypoplastic left atrium, Pelvic... OMIM:601186
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co... ORPHA:488618
Verheij Syndrome
Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Ventricular septal defect, Bran... OMIM:615583
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Coarctation of aorta, Abnormal... OMIM:618494
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Hypospadias, Patent ductus arteriosus, Atrial septal de... OMIM:158170
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Hydroureter, Hydronephrosis, Fetal megacystis OMIM:619362
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Czeizel-Losonci Syndrome
Dextrocardia, Congenital megaureter, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina... ORPHA:2437
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Ren... OMIM:614886
Maternal Phenylketonuria
Abnormal renal morphology, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:2209
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Pelvic kidn... ORPHA:508498
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Pulmo... OMIM:301056
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Cat Eye Syndrome
Tricuspid atresia, Patent ductus arteriosus, Vesicoureteral reflux, Total anomalous pulmonary ven... OMIM:115470
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Hydrocephalus, Polycystic kidney dysplasia, A... ORPHA:314588
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Hypospadias, Renal agenesis, Hydronephrosis, Umbilical ... OMIM:301040
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran... ORPHA:244
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy of Fallot, Atrial ... OMIM:612946
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Urogenital sinus anomaly, Hypoplastic l... OMIM:618901
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmoni... OMIM:615415
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Renal agenesis, Renal hypoplasia, ... OMIM:264480
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Hypoplasia of pe... ORPHA:7
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Perimembranous ventricular septal defect, Secundum atrial septal defect, Hydr... OMIM:608779
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Pelvic kidney, Hydronephrosis, Atrial septal defect, Ventricular septal defect, Pe... OMIM:613001
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Renal cyst OMIM:611561
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Atrial septal defect, Vent... ORPHA:1913
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Hypoplasia of penis, Ventricular sep... ORPHA:3097
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Vacterl/Vater Association
Occipital encephalocele, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardiac septu... ORPHA:887
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Encephalocele, Renal cyst OMIM:611560
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Trisomy 17P
Patent ductus arteriosus, Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, Aortic... ORPHA:261290
Thakker-Donnai Syndrome
Transposition of the great arteries, Communicating hydrocephalus, Hydronephrosis, Tetralogy of Fa... ORPHA:1780
Joubert Syndrome 39
Polycystic kidney dysplasia, Occipital encephalocele, Hypoplastic left heart OMIM:619562
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Tri... ORPHA:391641
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Meckel Syndrome, Type 2
Encephalocele, Anencephaly, Renal cyst, Meningocele OMIM:603194
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Pancreatic cysts, Aortic valve stenosis, Right... OMIM:267010
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Trisomy 1Q
Congenital megaureter, Hydrocephalus, Hydronephrosis, Patent ductus arteriosus, Ventricular septa... ORPHA:261344
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Ureteral triplication, Hydronephrosis, Mitral valve prol... OMIM:104350
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Hydronephrosis OMIM:618950
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao... OMIM:301111
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Hypospadias, Hypoplasia of penis ORPHA:1381
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Renal cyst, Intracranial hemorrhage, Ventricular septa... OMIM:614424
Fumarase Deficiency
Perimembranous ventricular septal defect, Bilateral fetal pyelectasis, Elevated urine fumaric aci... OMIM:606812
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis, ... OMIM:602088
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus OMIM:619797
Bardet-Biedl Syndrome 17
Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Micro... OMIM:615994
Joubert Syndrome 20
Renal cyst OMIM:614970
Pentalogy Of Cantrell
Hypospadias, Anencephaly, Encephalocele, Hydrocephalus, Renal agenesis, Abnormal pericardium morp... ORPHA:1335
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus OMIM:620327
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Hypospadias, Renal cyst, Micropenis OMIM:614175
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Umbilical hernia OMIM:618651
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Enceph... OMIM:216360
Mosaic Trisomy 9
Dextrocardia, Hypoplasia of penis, Abnormal heart valve morphology, Spina bifida, Hydronephrosis,... ORPHA:99776
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve, Patent ductus arteriosus OMIM:100100
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hypospadias, Hydrocephalus, Ren... OMIM:313850
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Hydronephrosis ORPHA:531151
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Carpenter Syndrome 1
Transposition of the great arteries, Hydroureter, Patent ductus arteriosus, Spina bifida occulta,... OMIM:201000
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus OMIM:609757
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia OMIM:236500
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... OMIM:616897
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Cardiomyopathy, Stroke-like episode, Hydronephrosis OMIM:222300
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Pulmona... ORPHA:261494
Congenital Disorder Of Glycosylation, Type Iiaa
Patent ductus arteriosus after premature birth, Ventricular septal defect, Unilateral renal agene... OMIM:620454
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insu... OMIM:614922
Noonan Syndrome 4
Ureteral duplication, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, Atrial sept... OMIM:610733
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Ectopic kidney, Hypospadias, Patent... OMIM:192350
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse, Multicystic kidney dysplasia OMIM:619980
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Valvular pulmonary stenosis, Spina bifida occulta, Pelvic kidney, Patent foramen ova... OMIM:300707
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Renal hypoplasia/apl... ORPHA:2461
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Renal insufficiency, Chronic kidney disease ORPHA:1667
Intellectual Disability, Buenos-Aires Type
Umbilical hernia, Hydronephrosis, Abnormal cardiac septum morphology ORPHA:3079
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus ORPHA:457193
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Abnormal vena cava morphology, Peripher... ORPHA:163956
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... OMIM:615067
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Spina bifida occulta OMIM:618060
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Spina bifida occulta, ... OMIM:235510
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Ventricular septal defect, Multicys... ORPHA:1393
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r... OMIM:265380
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Pulmonary artery ... ORPHA:1908
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Hepatic ... OMIM:612284
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Hypospadias, Spina bifida occulta, Patent foramen ovale... OMIM:180849
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Duane-Radial Ray Syndrome
Vascular dilatation, Spina bifida occulta, Vesicoureteral reflux, Ventricular septal defect, Rena... OMIM:607323
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia OMIM:607361
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Horseshoe kidney, Renal cyst ORPHA:166035
Zaki Syndrome
Renal agenesis, Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus OMIM:619648
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Atri... OMIM:220500
Genitopalatocardiac Syndrome
Hydrocephalus, Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology ORPHA:2075
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, A... ORPHA:1834
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis, Umbilical hernia OMIM:619218
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormal heart mor... ORPHA:2237
Distal Deletion 15Q
Hypospadias, Multicystic kidney dysplasia, Abnormal aortic arch morphology, Patent ductus arterio... ORPHA:1596
Down Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... OMIM:190685
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Fryns Syndrome
Hypospadias, Abnormal aortic arch morphology, Vesicoureteral reflux, Abnormal aortic morphology, ... ORPHA:2059
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Nephrocal... OMIM:615398
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Holoprosencephaly 14
Aqueductal stenosis, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Holoprosencep... OMIM:619895
Johanson-Blizzard Syndrome
Dextrocardia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Abnormal cardiac septum morphology ORPHA:2315
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Axial Osteomalacia
Renal cyst OMIM:109130
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Cardiomyopathy, Renal cyst, Nephrocalcinosis, Renal insufficiency ORPHA:445038
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Myoglobinuria, Polycysti... ORPHA:228308
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis, Umbilical hernia OMIM:619217
Zellweger Syndrome
Ventricular septal defect, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Aortic va... OMIM:208540
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Giant Cell Arteritis
Hematuria, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:397
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Neoplasm of the heart, Umbilical hernia, Megacystis, Multicystic kidney dysplasia ORPHA:2241
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red... ORPHA:157
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Duplicated collecting system, Pulmonary artery stenosis, Hyd... OMIM:280000
Pagod Syndrome
Situs inversus totalis, Renal hypoplasia/aplasia, Encephalocele, Meningocele, Abnormal aortic mor... ORPHA:991
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Long-chain dicarboxyli... OMIM:608836
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hydronephrosis, Pulmonary lymphangiectasia, Ventricular septal defec... OMIM:235255
ERI1-related disease
Abnormal heart morphology, Ventricular septal defect, Hydronephrosis, Vesicoureteral reflux OMIM:608739
Tarp Syndrome
Subdural hemorrhage, Hydronephrosis, Tetralogy of Fallot, Atrial septal defect, Horseshoe kidney OMIM:311900
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication, Bicu... ORPHA:96169
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Hypospadias, Hydronephrosis OMIM:616449
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Patent foramen ovale, Patent ductus arteri... OMIM:301043
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis, Abnormal cardiac septum morphology ORPHA:2484
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Abnormality of the urinary system, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:96092
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Hydronephrosis OMIM:619179
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Abnormal bladder morphology, Vesicoureteral ref... ORPHA:453499
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Polycystic kidney dysplasia OMIM:608776
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Renal cyst, Bifid ureter, Mitral valve prolapse, Renal dysplasia, Vari... OMIM:617107
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Microphallus, ... OMIM:618454
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Patent ductus arteriosus, Spina bifida, Hydronephrosis, Umbilical herni... ORPHA:2092
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:250410
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Interrupted aortic arch, Vesicoureteral reflux, Hydronephrosis, Patent ductus arte... ORPHA:250989
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology, Atrial septal defect, ... ORPHA:261197
Koolen-De Vries Syndrome
Aortic root aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Pulmonic stenosi... OMIM:610443
Otopalatodigital Syndrome Type 2
Hypospadias, Encephalocele, Hydrocephalus, Abnormal heart valve morphology, Myelomeningocele, Ure... ORPHA:90652
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Penoscrotal... OMIM:618280
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal de... OMIM:614921
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Renal cyst, Pulmonic stenosis, Nephrobl... OMIM:257300
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ... OMIM:618164
Genitopatellar Syndrome
Atrial septal defect, Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Pancreatic lymphangiectasis, Hydronephrosis, Pulmonary lymphangiectasi... ORPHA:1655
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Preductal coarctation of th... OMIM:146510
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Cystic Echinococcosis
Renal cyst, Abnormal heart morphology, Ovarian cyst, Hepatic cysts, Membranous nephropathy ORPHA:400
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus, Renal dysplasia OMIM:617260
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent foramen ovale, Vesicoureteral reflux, Bilateral superior vena cava w... OMIM:618460
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Patent ductus a... OMIM:614080
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Lymphangiectasis, Renal cyst OMIM:602579
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Micropenis, Hydronephrosis OMIM:617798
Mosaic Trisomy 1
Renal cortical cysts, Pulmonary artery atresia, Renal cyst, Coarctation of aorta, Penile hypospad... ORPHA:1692
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Pulmonic stenosis, Hydronephrosis, Patent ductus arterios... OMIM:616737
Holt-Oram Syndrome
Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal... OMIM:142900
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Hydrocephalus, Abnormalit... ORPHA:2306
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Opitz Gbbb Syndrome
Hypospadias, Patent ductus arteriosus, Aortic root aneurysm, Patent foramen ovale, Vesicoureteral... ORPHA:2745
Pericardial And Diaphragmatic Defect
Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp... ORPHA:2847
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydrocephalus, Interrupted aortic arch, Hydronephrosis, Intracranial hemorrhage, Pat... ORPHA:163979
Teebi-Shaltout Syndrome
Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defect, Horseshoe ki... OMIM:272950
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Aortic valve stenosis, Hydrone... ORPHA:464311
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hydronephrosis, Micropenis ORPHA:83617
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal def... OMIM:300712
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Spina bifida occulta, Hypertrophic cardiomyopathy, Pulmon... OMIM:151100
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Transposition of the great arteries, Hypospadias, Abnormal aortic ... ORPHA:251071
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Umbilical hernia, Spina bifida... ORPHA:261318
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arterios... OMIM:612562
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Occipital meningocele, Atrial septal def... OMIM:616546
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney... ORPHA:1225
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Trisomy 18
Anencephaly, Abnormality of the upper urinary tract, Spina bifida, Hydronephrosis, Holoprosenceph... ORPHA:3380
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Hypospadias, Encephalocele, Abnormal penis morphology, Exencephaly ORPHA:2211
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Vesicoureteral reflux OMIM:620663
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Chime Syndrome
Pulmonary valve atresia, Abnormality of the kidney, Transposition of the great arteries, Hydronep... ORPHA:3474
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydronephrosis, Spina bifida, Hydranencephaly ORPHA:2839
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ureteropelvic junction obstruction, Hydronephrosis, Mitral valv... ORPHA:444072
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Nephrolithiasis, Functional abnormality of the bladder, Abnormal... ORPHA:2953
Meckel Syndrome 14
Polycystic kidney dysplasia, Occipital encephalocele, Holoprosencephaly, Single ventricle OMIM:619879
Mesomelia-Synostoses Syndrome
Hydronephrosis, Umbilical hernia ORPHA:2496
3Mc Syndrome 1
Spina bifida occulta, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Ventricular... OMIM:257920
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Left ventricular hypertrophy, Renal insuf... OMIM:611209
Trisomy 8P
Abnormal left ventricle morphology, Hydrocephalus, Dysplastic aortic valve, Nephrocalcinosis, Tet... ORPHA:264450
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Renal cortical microcysts, Hydronephrosis, Albuminuria, Patent ductus arteriosus, Ve... OMIM:214100
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Cardiomyopathy, Ethylmalonic aciduria, 3-Methylgl... ORPHA:26791
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Large vessel vasculitis, Hematuria, Dysur... ORPHA:49041
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Spina bifida occulta, Ventricular septal de... ORPHA:500095
Frank-Ter Haar Syndrome
Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v... OMIM:249420
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Multicystic kidney dysplasia, Pulmonic stenosis, Umbi... ORPHA:97360
Basel-Vanagaite-Smirin-Yosef Syndrome
Left superior vena cava draining to coronary sinus, Hypospadias, Male urethral meatus stenosis, H... ORPHA:464738
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Hydroce... ORPHA:2322
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Aortic valve stenosis, Hydrone... ORPHA:464306
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Abnormal heart mor... ORPHA:369837
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:618223
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Hypoplasia of penis, Abnormal aortic morphology, Hydronephro... ORPHA:1507
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Atrial septal defect, Hydronephrosis, Patent ductus arteriosus OMIM:300968
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Renal cyst, Nephrotic syndrome, Pericardial effusion, Peric... OMIM:212065
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Pa... ORPHA:84064
Charge Syndrome
Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Umbilical hernia, Pulmonic... OMIM:214800
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Pulmonic stenosis, Secundum atrial septal defect, Hydronephro... OMIM:612541
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis, Aortopulmonary collater... OMIM:617557
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Aortic aneurysm, Hydrocephalus, Enuresis, Aortic valve st... ORPHA:96121
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Abnormal left ventricular outflow tract morphology, Abnorm... ORPHA:79328
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Abnormal heart morphology, Aminoaciduria OMIM:214110
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Microphthalmia, Syndromic 2
Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aortic arch, Pulmonic stenosis, ... OMIM:300166
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Cardiofaciocutaneous Syndrome
Hydrocephalus, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, H... ORPHA:1340
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Patent foramen ovale, Renal hypoplasia, Holoprosencephaly, Patent duc... OMIM:269860
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular sep... OMIM:600460
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Vesicoureteral reflux, Aortic valve stenosis, Coarctation of aorta, Tetralog... ORPHA:96147
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Tuberous Sclerosis Complex
Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Polycystic kidney dysplasia, Ren... ORPHA:805
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Micropenis ORPHA:364028
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis, Cor pulmonale, Mitral valve prolapse OMIM:305620
Erdheim-Chester Disease
Abnormal aortic valve morphology, Dysuria, Abnormal pericardium morphology, Hydronephrosis, Renal... ORPHA:35687
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Pelvic kidney, Patent foramen ovale, Vesicoureteral reflux, Hydronephrosis, Micr... OMIM:618653
Joubert Syndrome 2
Nephronophthisis, Encephalocele, Hydrocephalus, Renal cyst, Renal insufficiency OMIM:608091
Tarp Syndrome
Hydronephrosis, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Ho... ORPHA:2886
Hardikar Syndrome
Bladder exstrophy, Hydroureter, Patent ductus arteriosus, Recurrent urinary tract infections, Pat... OMIM:301068
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis, Renal angi... OMIM:191100
Floating-Harbor Syndrome
Mesocardia, Hypospadias, Polycystic kidney dysplasia, Epididymal cyst, Renal cyst, Dilatation of ... ORPHA:2044
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Histiocytoid Cardiomyopathy
Hydrocephalus, Renal cyst, Stroke-like episode, Cardiomegaly, Polycystic ovaries, Ventricular sep... ORPHA:137675
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:93260
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Vascular dilatation, Patent foramen ovale, Hydronephrosis, Right ve... OMIM:613177
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Abnormal cardiac septum morphology, Hydronephrosis, Umbilical hernia, ... OMIM:308050
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Jacobsen Syndrome
Spina bifida, Aortic valve stenosis, Coarctation of aorta, Hydronephrosis, Ventricular septal def... ORPHA:2308
Hajdu-Cheney Syndrome
Hypospadias, Patent ductus arteriosus, Hydrocephalus, Polycystic kidney dysplasia, Renal cyst, Um... OMIM:102500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... ORPHA:280633
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, Atrial septal defect OMIM:115150
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Primum atrial septal defect, Right ventricular hypertrophy... ORPHA:1329
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Aortic aneurysm, Hydrocephalus, Recurrent urinary tract infections, Vesicoureteral r... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Aortic aneurysm, Hydrocephalus, Recurrent urinary tract infections, Vesicoureteral r... ORPHA:363958
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Premature coronary artery atherosclerosis, Aortic root an... ORPHA:90324
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Abnormal lymphatic vessel morphology, Pericardial effusion,... ORPHA:464329
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Cardiac rhabdomyoma, Renal cell carcinoma, Ren... OMIM:613254
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Patent ductus arte... OMIM:606232
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Hydrocephalus, Pelv... OMIM:258040
Alagille Syndrome 1
Atrial septal defect, Duplicated collecting system, Renal tubular acidosis, Stroke, Vesicouretera... OMIM:118450
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal cortical microcysts, Atrial septal de... OMIM:614866
Alveolar Echinococcosis
Abnormal bladder morphology, Renal cyst, Abnormal pericardium morphology, Hepatic cysts, Pancreat... ORPHA:284
Meier-Gorlin Syndrome 7
Hypospadias, Vesicoureteral reflux, Urethral stricture, Atrial septal defect, Ventricular septal ... OMIM:617063
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Truncus arteriosus, Renal agenesis, Crossed fused renal ectopia, Renal ... ORPHA:2538
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Hydronephrosis, Vesicoureteral reflux OMIM:615926
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ... OMIM:253800
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventricular septal defect, Hydronephrosis OMIM:101200
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis ORPHA:2510
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... OMIM:122470
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Atrioventricular canal defect, Unilateral renal agenesis, Spina bifida... ORPHA:508488
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Patent foramen ovale, Hypertr... ORPHA:363700
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis ORPHA:568
2Q37 Microdeletion Syndrome
Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dysplasia, Umbilical hernia ORPHA:1001
Hydrolethalus Syndrome 1
Anencephaly, Hypospadias, Hydronephrosis, Severe hydrocephalus, Ventricular septal defect, Comple... OMIM:236680
15Q Overgrowth Syndrome
Hydrocephalus, Abnormal renal morphology, Hydronephrosis, Nephroblastoma, Ureterovesical stenosis... ORPHA:314585
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Complete atrioventricular canal defect ORPHA:476126
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Aortic v... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Renal hypoplasia/aplasia, Hypospadias, Patent ductus arteriosus, H... ORPHA:818
Orofaciodigital Syndrome I
Vascular dilatation, Hydrocephalus, Polycystic kidney dysplasia, Myelomeningocele, Abnormal heart... OMIM:311200
Kawasaki Disease
Myocarditis, Abnormal heart valve morphology, Vasculitis, Ascending tubular aorta aneurysm, Doubl... ORPHA:2331
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Chylopericardium, Hydrocephalus, Multiple renal cysts, Pulmonary lymph... ORPHA:538
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Hy... OMIM:270400
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Cardiomyopathy, Hydronephros... ORPHA:373
Peutz-Jeghers Syndrome
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter ORPHA:2869
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Patent foramen ovale, Vesicoureteral reflux, Hydrone... ORPHA:96149
Campomelia, Cumming Type