Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Eph receptor B4
Synonyms:
Myk1,  MDK2,  Tyro11,  Htk,  b2b2412Clo

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 Ephb4 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.

The table below shows human diseases associated to Ephb4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphatic Malformation 7
Atrial septal defect, Pericardial effusion, Varicose veins OMIM:617300
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Peripheral arteriovenous fistula, Abnormality of the musculature of t... ORPHA:137667
Meige Disease
Varicose veins ORPHA:90186
Capillary Malformation-Arteriovenous Malformation 2
Vein of Galen aneurysmal malformation OMIM:618196

The table below shows human diseases predicted to be associated to Ephb4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... ORPHA:1166
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Distal Trisomy 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... ORPHA:1705
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts OMIM:600666
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Pulmonary hypopla... ORPHA:3033
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, Renal cyst, Renal insu... OMIM:615993
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot ORPHA:251076
Diabetic Embryopathy
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Tetralogy of Fallot, Ventricular sept... ORPHA:1926
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia, Renovascular hypertension OMIM:135580
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... ORPHA:477817
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... OMIM:611773
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydroureter, Hydronephrosis OMIM:264140
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Bilater... OMIM:601186
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Distal Tetrasomy 15Q
Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Pul... ORPHA:314588
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Waardenburg Syndrome Type 2
Abnormality of the kidney, Abnormality of the pulmonary artery ORPHA:895
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta OMIM:616145
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Unilateral renal agenesis, Micropenis, ... ORPHA:363444
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Hepatic cysts, Tubulointerstitial fibrosis, En... OMIM:263200
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Dextrocardia, Right aortic arch, Situs inversus totalis OMIM:617577
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect OMIM:611376
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... OMIM:613095
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... OMIM:617056
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616501
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... ORPHA:1727
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Pulmonary hypoplasia, Cardiomegaly OMIM:617022
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... ORPHA:95430
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hematuria, Patent ductus arteriosus, Abno... ORPHA:90308
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... ORPHA:2970
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... OMIM:615415
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Abnormal aortic valve cusp morphology, Left ventricular hypertrophy, Abnor... ORPHA:99094
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydroureter, Urethral diverticulum,... OMIM:212093
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Polycystic kidney dysplasia, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Dextrocardia
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormal renal morpholo... ORPHA:1666
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... OMIM:612946
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia ORPHA:3032
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect, Enlarged kidney, Situs inversus totalis, Hepatic cys... OMIM:208540
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... OMIM:619902
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... OMIM:192430
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... OMIM:601612
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Ectopic kidney, Truncu... ORPHA:401935
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Trisomy 17P
Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kidney dysplasia, ... ORPHA:261290
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus, Micropenis OMIM:147770
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial ... ORPHA:290
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Abnormal lung lobation, Ventricular septal defect, Abno... ORPHA:2516
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Renal agenesis, Pulmonary artery hypoplasia, Anomalous... ORPHA:2326
Phaver Syndrome
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... ORPHA:2876
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect OMIM:617877
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Fanconi Anemia, Complementation Group O
Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis, Abnormal heart morphology OMIM:613390
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... ORPHA:488618
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts OMIM:263630
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysplasia, Pulmona... OMIM:231680
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Pulmonary hypoplasia, Recurrent respiratory infections, Nephronophth... OMIM:184260
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Prune Belly Syndrome
Hydroureter, Patent ductus arteriosus, Hydronephrosis, Urethral valve, Congenital posterior ureth... OMIM:100100
Birt-Hogg-Dube Syndrome
Renal neoplasm, Multiple pulmonary cysts, Renal cyst, Renal cell carcinoma, Spontaneous pneumothorax OMIM:135150
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Truncus arteriosus OMIM:601355
Pagod Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery ... ORPHA:991
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... ORPHA:363618
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Card... OMIM:306955
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysplasia, Dilated... OMIM:608836
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Verheij Syndrome
Renal agenesis, Abnormal cardiac septum morphology, Renal cyst, Renal hypoplasia OMIM:615583
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis, Arterial intimal fibrosis, Pul... OMIM:178600
Fryns Syndrome
Abnormal cardiac septum morphology, Hypospadias, Multicystic kidney dysplasia, Tetralogy of Fallo... ORPHA:2059
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Atrial septal defect, Micropenis, Hypospadias, Ventricular septal defect, Histiocytoid c... OMIM:309801
Feingold Syndrome Type 1
Tricuspid atresia, Nephritis, Tricuspid stenosis, Abnormality of the kidney, Renal dysplasia, Pat... ORPHA:391641
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Chromosome 9P Deletion Syndrome
Atrial septal defect, Micropenis, Hypospadias, Ventricular septal defect, Patent ductus arteriosu... OMIM:158170
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal hypoplasia OMIM:614091
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Subvalvula... OMIM:613001
Carnitine Palmitoyltransferase Ii Deficiency
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... ORPHA:157
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Abnormal coronary arte... ORPHA:980
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Tetralogy of F... ORPHA:84064
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... ORPHA:228308
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Atrial septal defect, Hypoplastic left heart,... ORPHA:2473
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Renal agenesis, Hypospadias, Coarctation of... ORPHA:508498
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... ORPHA:2237
Transaldolase Deficiency
Abnormality of the kidney, Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta ORPHA:101028
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Overriding aorta, Abnormal localization of kidney, Tetralogy of Fallot ORPHA:3186
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... OMIM:113650
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Ventricular septal defect, Polycystic kidney dysplasia, Patent ductus ... OMIM:606232
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Atrial Standstill
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Ischemic stroke, Skeleta... ORPHA:1344
Trisomy 13
Atrial septal defect, Abnormality of the ureter, Multiple renal cysts, Abnormal lung lobation, Ve... ORPHA:3378
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria,... ORPHA:26791
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Nephrolithiasis, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic ste... ORPHA:353281
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Ureteral atresia, Hydronephrosis OMIM:183802
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal he... OMIM:618494
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Renal corticomedullary cysts, Vascular dilatation, Renal insufficiency OMIM:219730
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Renal agenesi... OMIM:115470
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology OMIM:214110
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Apert Syndrome
Ventricular septal defect, Overriding aorta, Hydronephrosis OMIM:101200
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Tuberous Sclerosis Complex
Chronic kidney disease, Abnormality of the kidney, Renal angiomyolipoma, Hepatic cysts, Renal cys... ORPHA:805
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Micropenis, Renal agenesis, Hypospadias, Ventricular septal defect, Hydronephrosis, Perimembranou... OMIM:301040
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Hydronephrosis OMIM:619797
Meckel Syndrome 14
Pneumothorax, Single ventricle, Polycystic kidney dysplasia, Pulmonary hypoplasia OMIM:619879
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... ORPHA:1505
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Hydroureter, Coarctation of aorta OMIM:616559
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Atrioventricular canal def... ORPHA:500
Xanthinuria, Type I
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis OMIM:278300
Tempi Syndrome
Abnormality of the pulmonary vasculature, Abnormality of the kidney, Intracranial hemorrhage, Tra... ORPHA:284227
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Kleefstra Syndrome
Bicuspid aortic valve, Hypoplasia of penis, Micropenis, Hypospadias, Coarctation of aorta, Tetral... ORPHA:261494
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Joubert Syndrome 20
Renal cyst OMIM:614970
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Micropenis, Tetralogy of Fallot, ... OMIM:618280
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Hypoplastic left heart, Hypospadias, Recurrent upper respiratory tract infe... OMIM:180849
Floating-Harbor Syndrome
Epididymal cyst, Atrial septal defect, Renal agenesis, Hypospadias, Coarctation of aorta, Tetralo... ORPHA:2044
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Micropenis OMIM:618021
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Multicystic kidney dy... OMIM:267010
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Pulmonary hypoplasia OMIM:236500
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Coarctation of aorta, Renal cyst, Renal hypoplasia, Patent du... OMIM:618454
Williams Syndrome
Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, Ventricular septa... ORPHA:904
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Myopathy, Congenital, Progressive, With Scoliosis
Renal atrophy, Hydronephrosis OMIM:618578
Tetraploidy
Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... OMIM:243910
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Pulmonary hypoplasia, Hydronephr... OMIM:236700
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Basel-Vanagaite-Smirin-Yosef Syndrome
Abnormal cardiac septum morphology, Hypospadias, Hydronephrosis OMIM:616449
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pa... OMIM:600460
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Ureteral stenosis, Dextrocardia, Pulmonary hypoplasia, Pneumothora... ORPHA:2257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Hydronephrosis, Renal dysplasia, Micropenis OMIM:615287
Alport Syndrome
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... ORPHA:63
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Atrial septal defect, Meningocele OMIM:611134
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Hypospadias, Hypoplastic aortic arch... ORPHA:261311
Congenital Tracheal Stenosis
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Abnormali... ORPHA:141127
Ogden Syndrome
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Pulmonary edema, Secundum atrial sep... OMIM:300855
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... OMIM:614922
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis OMIM:304900
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Multicystic kidney dysplasia, Pneumonia, Micropenis OMIM:300209
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Atrial septal defect, Hypospadias, Abnorm... ORPHA:567
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Nephrolithiasis, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve steno... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Nephrolithiasis, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve steno... ORPHA:353277
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia, Pulmona... OMIM:263520
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary artery atres... OMIM:301056
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Pulmonary hypoplasia, Vascular dilatation, Patent foramen ovale, Emphysema,... OMIM:613177
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus art... ORPHA:261344
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis OMIM:609757
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery ORPHA:1131
Penile Agenesis
Urethral atresia, male, Atrial septal defect, Urethral fistula, Bilateral renal hypoplasia, Bilat... ORPHA:49
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Hydronephrosis OMIM:300048
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis, Recurrent ... OMIM:618950
Distal Monosomy 15Q
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Overriding ao... OMIM:214800
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Decreased glomerular filtration rate, Nephrotic range p... ORPHA:93126
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Hydronephrosis, Stroke-like episode, Neurogenic bladder OMIM:222300
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... ORPHA:3467
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Recurrent urinary tract infections, Renal duplication, ... ORPHA:33001
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis, Abnormal lung lobation ORPHA:1745
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Coarctation of aorta, Pulmonary artery atresia, Ventricular sep... ORPHA:1692
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Left ventricular hypertrophy, Renal insufficiency, Hydronephrosis OMIM:611209
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... ORPHA:3426
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Multiple renal cysts, Endocardial fibroelastosis, Vent... ORPHA:99776
Thakker-Donnai Syndrome
Ventricular septal defect, Hydronephrosis, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1780
Axial Osteomalacia
Renal cyst OMIM:109130
Orofaciodigital Syndrome I
Myelomeningocele, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Vascular dilatation, ... OMIM:311200
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Micropenis, Polycystic kidney dysplasia, Patent ductus ... ORPHA:96149
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hydro... OMIM:616897
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... OMIM:615994
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Vascular dilatation, Multiple small medu... OMIM:216360
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... ORPHA:255249
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Renal agenesis, Abnormality of the ureter, Hypoplasia of the ... OMIM:249000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Abnormal vena cava morphology, Renal cyst, Horseshoe kidney ORPHA:166035
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Renal dysplasia, Ventricular septal defect, Mitral valve prolapse, Renal cyst, Bi... OMIM:617107
Joubert Syndrome 7
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... ORPHA:2973
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Alg3-Cdg
Coarctation of the descending aortic arch, Pulmonary hypoplasia, Cardiomyopathy ORPHA:79321
Vacterl/Vater Association
Abnormal cardiac septum morphology, Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality... ORPHA:887
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the urinary system, Abnormality of the ureter, Renal cys... ORPHA:1834
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Ureteral stenosis, Hypercalciuria, Renal cyst, Patent ductus arterios... OMIM:615398
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydronephrosis, Atrial septal defect ORPHA:457193
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... OMIM:130090
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Coarctation of aorta, Renal dysplasia, Renal cyst, Patent ductus arteriosus OMIM:617260
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Renal cyst, Proximal tubulopathy OMIM:602579
Craniofacioskeletal Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydroneph... OMIM:300712
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... DECIPHER:81
Serkal Syndrome
Pulmonic stenosis, Abnormal penis morphology, Hypospadias, Renal agenesis, Hypoplasia of the blad... ORPHA:139466
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular noncompaction, Left ventricular hypertrophy, Neonatal death, Dilated cardiomyopa... OMIM:619167
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Polycystic kidney dysplasia, Pancreatic cysts OMIM:610199
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Renal agenesis, Hypospadias, Bilateral lung agenesis, Hypoplasia of the bladder, Ventricular sept... OMIM:611812
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Tetra... ORPHA:2255
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect ORPHA:75389
Femoral-Facial Syndrome
Micropenis, Pulmonic stenosis, Abnormal renal collecting system morphology, Renal agenesis, Ventr... OMIM:134780
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Hydroureter, Abnormal lung lobation, Ventricular septal ... OMIM:146510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pleural lymphangiectasia, Ventricular septal defect, Pericardial effusion, ... OMIM:235510
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Ureteropelv... OMIM:280000
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... ORPHA:1600
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... OMIM:108800
Zaki Syndrome
Renal agenesis, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis OMIM:619648
Czeizel-Losonci Syndrome
Myelomeningocele, Congenital megaureter, Abnormality of the urinary system, Ureteral agenesis, De... ORPHA:2437
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiome... OMIM:614921
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Pancreatic lymphangiectasis, H... OMIM:235255
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Carpenter Syndrome 1
Atrial septal defect, Pulmonic stenosis, Hydroureter, Tetralogy of Fallot, Ventricular septal def... OMIM:201000
Igg4-Related Kidney Disease
Abnormal ureter morphology, Urethritis, Ureteral obstruction, Hematuria, Renal interstitial immun... ORPHA:449395
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
3-Methylglutaconic Aciduria Type 7
Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Pneumothorax, Nephrocalcinosis, Car... ORPHA:445038
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Braddock-Carey Syndrome 1
Ventricular septal defect, Multicystic kidney dysplasia, Aortic valve prolapse OMIM:619980
Scleromyxedema
Stroke, Abnormality of the kidney, Abnormal coronary artery morphology, Abnormal lung morphology,... ORPHA:167635
46,Xx Sex Reversal 5
Ventricular septal defect, Urogenital sinus anomaly, Secundum atrial septal defect, Hypoplastic l... OMIM:618901
Desmoid Tumor
Abnormality of the upper urinary tract, Hydronephrosis ORPHA:873
Cystic Echinococcosis
Multiple pulmonary cysts, Ovarian cyst, Abnormal subpleural morphology, Membranous nephropathy, H... ORPHA:400
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Renal agenesis, Cystic r... OMIM:220500
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... ORPHA:731
Noonan Syndrome 4
Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Ventricular septal defect, Hydrone... OMIM:610733
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Hydronephrosis, Interrupted aortic ... ORPHA:250989
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... ORPHA:91387
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ventricular septal defect... ORPHA:163979
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Duane-Radial Ray Syndrome
Atrial septal defect, Renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Ren... OMIM:607323
Tarp Syndrome
Hydronephrosis, Horseshoe kidney, Tetralogy of Fallot OMIM:311900
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... ORPHA:105
Netherton Syndrome
Aminoaciduria, Ectopic kidney, Hydronephrosis, Emphysema, Recurrent respiratory infections ORPHA:634
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... OMIM:156810
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonary artery dilatatio... OMIM:620067
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia, P... OMIM:200980
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormality of the urinary system, Abnormal penis morphology, Abnormali... ORPHA:2461
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Patent ductus arteriosus, Ureteral triplication, Hydronephrosis OMIM:104350
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Abnormal cardiac septum morphology, Renal hypoplasia/ap... ORPHA:2092
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction OMIM:163800
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneurysm, Aortic root aneurysm, Cor... OMIM:617168
Perlman Syndrome
Nephrogenic rest, Nephroblastoma, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch OMIM:267000
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
Seckel Syndrome 9
Atrial septal defect, Recurrent urinary tract infections, Pulmonary artery hypoplasia, Ventricula... OMIM:616777
Opitz Gbbb Syndrome
Atrial septal defect, Hypospadias, Abnormality of the urinary system, Coarctation of aorta, Ventr... ORPHA:2745
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Atrial septal defect, Bladder trabeculation, Ureteral duplication, Renal dys... OMIM:614080
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of bladder morphology, Bicuspid aortic valve, Atrial septal defect, Atrioventricular ... ORPHA:453499
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney, Pulmonary hypoplasia, Bilobe... OMIM:612284
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Hydronephrosis, Vesicoureteral reflux, Recurrent respiratory ... ORPHA:2484
Genitopatellar Syndrome
Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis, Atrial septal defect ORPHA:85201
Zellweger Syndrome
Ventricular septal defect, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis ORPHA:912
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micropenis, Pulmonary lymphangiectasia, Abnormal renal morphology, Ventricular septal defect, Pan... ORPHA:1655
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Hyposp... ORPHA:251071
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Recurrent pneumonia, Hydronephrosis OMIM:619179
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Recurrent urinary tract infection... OMIM:610443
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... ORPHA:49041
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Situs inversus totalis,... ORPHA:1908
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Hydronephrosis ORPHA:3079
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia, Perimembranous ventricular septal defect, Hydronephrosis, Micropenis ORPHA:83617
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis, Vesicoureteral ... OMIM:618460
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele ORPHA:2031
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Pulmonic stenosis, Recurrent upper respiratory tract infections, R... OMIM:612541
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Joubert Syndrome 14
Renal cyst OMIM:614424
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Tetralogy of Fallot, Dextrocardia, Hydronephrosis,... ORPHA:96092
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Hydronephrosis, Transposition of the great arteries, Tetralogy of Fallot OMIM:227255
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Ureteropelvic junction obstruction, Hydronephro... ORPHA:444072
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hypospadias, Ventricular septal defect, Pulmonary hypoplasia, Patent ductus arteri... OMIM:214100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Coarctation of aor... OMIM:617506
Kaposiform Lymphangiomatosis
Pancreatic cysts, Epidural hemorrhage, Multiple renal cysts, Abnormal lymphatic vessel morphology... ORPHA:464329
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Hypospadias, Renal duplication, Ureter... ORPHA:96169
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Hypoplasia of penis, Hypospadias, Dextrocardia, Hydronephrosis ORPHA:2315
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Stage 5 chronic kidney... OMIM:619534
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... OMIM:137920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Hydronephrosis, Megacystis OMIM:619362
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Abnormal aortic morphology ORPHA:1001
Hardikar Syndrome
Atrial septal defect, Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder,... OMIM:301068
Toluene Embryopathy
Abnormal localization of kidney, Hydronephrosis ORPHA:1920
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Cardiac rhabdomyoma, Pulmonary lymphangio... OMIM:191100
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Pulmonic stenosis, Unilateral renal agenesis, Hypospadias, Pa... OMIM:616737
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Ventricular septal def... ORPHA:464311
Trisomy 8P
Peripheral pulmonary artery stenosis, Micropenis, Recurrent upper respiratory tract infections, T... ORPHA:264450
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Left superior vena cava drainin... ORPHA:464738
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:250410
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Stroke, Atrial septal defect, Renal tubular acidosis, Coarc... OMIM:118450
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Renal dysplasia, Patent ductus arteriosus, Hydronephrosis, Recurrent respir... OMIM:300968
Kabuki Syndrome
Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, C... ORPHA:2322
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Abnormal renal collecting system morphology, Hypospadias, Methylmalo... ORPHA:17
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Congenital megaureter, Restrictive cardiomyopathy, Abnormality of the urina... ORPHA:369837
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Abnormal heart morphology OMIM:614866
Robinow Syndrome
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Micropenis, Pulmonic stenosis, ... ORPHA:97360
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Hypospadias, Pulmonary artery sling, Ventricular septal defect, Patent fora... OMIM:619268
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Unilateral renal dysplasia, Peripheral pulmonary artery stenosis, Atrial septal defect, Right ven... ORPHA:280633
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
Alg9-Cdg
Ureteral hypoplasia, Atrial septal defect, Hypoplasia of the bladder, Abnormal lung lobation, Ven... ORPHA:79328
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydroureter, Hydronephrosis OMIM:619431
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Renal duplication, Hematuria, Urethral stricture, Renal dysp... ORPHA:79403
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
De Barsy Syndrome
Prominent veins on trunk, Recurrent sinopulmonary infections, Ventricular septal defect, Patent d... ORPHA:2962
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Atrial septal defect, Hypoplasia of penis, Multicystic kidne... ORPHA:1507
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Vater/Vacterl Association
Renal agenesis, Hypospadias, Tetralogy of Fallot, Renal dysplasia, Ventricular septal defect, Ure... OMIM:192350
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Hydronephrosis OMIM:617913
Peters Plus Syndrome
Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypoplastic left heart, Pulmonic st... ORPHA:709
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Unilateral renal agenesis... ORPHA:90324
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Atrial septal defect, Unilateral renal agenesis, Hypospadias, Ventricular ... ORPHA:96121
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal angiomyolipoma, Renal cyst, Renal cell c... OMIM:613254
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Senior-Boichis Syndrome
Carotid artery dilatation, Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary ... ORPHA:84081
Tarp Syndrome