banner
Genes Phenotypes Help, News, Blog

Gene: Ephb4 MGI:104757

Log in to follow
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,  b2b2412Clo,  Htk

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Atrial septal defect OMIM:617300
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Abnormality of the muscula... 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
Hypospadias, Ventricular septal defect, Renal cyst, Right aortic arch, Transposition of the great... OMIM:231060
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Renal hypoplasia/aplasia, Tetralogy of Fallot, Abnormal aortic morphol... ORPHA:1166
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation, Abnormality of the ... ORPHA:1705
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ... OMIM:173900
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath... ORPHA:3033
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Megabladder, Congenital
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... OMIM:618719
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation, Polycystic kidney dysplasia OMIM:614859
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Tetralogy of Fallot, A... ORPHA:1926
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... OMIM:617478
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
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
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... ORPHA:477817
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... OMIM:615993
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ... ORPHA:99050
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection OMIM:135580
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Distal Triplication 15Q
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... ORPHA:314588
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Microphthalmia, Syndromic 9
Renal malrotation, Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels... OMIM:601186
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Abnormality of the kidney ORPHA:895
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Common atri... OMIM:608978
Ventricular Septal Defect 3
Patent ductus arteriosus, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... OMIM:212093
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata... OMIM:611773
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron... OMIM:614846
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... OMIM:600987
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Bronchiectasis, Situs inversus totalis OMIM:617577
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Mungan Syndrome
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis OMIM:611376
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial I... OMIM:613496
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... OMIM:617056
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... ORPHA:1727
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction OMIM:616501
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... ORPHA:229
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... ORPHA:2970
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Hematuria, Abno... ORPHA:90308
Trisomy 17P
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef... ORPHA:261290
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia OMIM:608776
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia ORPHA:3032
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hypertrophic cardiomyopathy, Tubular luminal dilatation, Renal interstitial fibrosis,... OMIM:619902
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Pulmo... OMIM:612946
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abnormal lung lobation, Abnormal... ORPHA:1666
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Ureteral... OMIM:208540
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... OMIM:601612
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Pulmonic s... OMIM:220210
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... OMIM:252011
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Pulmo... ORPHA:401935
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi... ORPHA:2326
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal lung lobation, Abno... ORPHA:2516
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
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Situs inversus totalis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Aorti... OMIM:615415
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly OMIM:617022
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Pulmonary hypoplasia, Atriov... OMIM:314390
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst OMIM:263630
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology OMIM:613390
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Coa... OMIM:618494
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Odontochondrodysplasia 1
Recurrent respiratory infections, Polycystic kidney dysplasia, Pulmonary hypoplasia, Nephronophth... OMIM:184260
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Birt-Hogg-Dube Syndrome 1
Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma OMIM:135150
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Antenatal intracereb... OMIM:608836
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Papillary renal cell carcinoma, Intracranial... ORPHA:363618
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Chordee, Atrial septal defect, Micropen... OMIM:309801
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Pulmonary artery ... ORPHA:991
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Hypospadias, Coarctation of aorta ORPHA:1923
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morph... ORPHA:2059
Joubert Syndrome 18
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:614815
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus,... ORPHA:3097
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... OMIM:178600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Patent ductu... ORPHA:391641
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... OMIM:219730
Chromosome 9P Deletion Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Perimembranous ventricular sept... OMIM:158170
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:614091
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tubular epitheli... ORPHA:228308
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Abn... ORPHA:84064
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Ureteral duplication, Ureteral stenosis, Atrial septal defect, Right atr... OMIM:270100
Prune Belly Syndrome
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Atrial septal defect, Hypos... ORPHA:353281
Verheij Syndrome
Ventricular septal defect, Renal agenesis, Renal hypoplasia, Renal cyst, Truncus arteriosus OMIM:615583
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... OMIM:613001
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Hydronephrosis, Polycy... ORPHA:2237
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Ischemic... ORPHA:1344
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal agenesis, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular c... ORPHA:508498
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:3186
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Abnormality of the kidney, Coarctation of aorta ORPHA:101028
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac... ORPHA:26791
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Hydronephrosis OMIM:619797
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney... OMIM:606232
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Abnormal lung lob... ORPHA:3378
Apert Syndrome
Overriding aorta, Ventricular septal defect, Hydronephrosis OMIM:101200
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Cat Eye Syndrome
Atrial septal defect, Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Horses... OMIM:115470
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... ORPHA:805
Joubert Syndrome 20
Renal cyst OMIM:614970
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:214110
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Polycystic kidney dysplasia, Single ventricle OMIM:619879
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Ventricular septal defect, Perimembranous ventricular septal defect,... OMIM:301040
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Kleefstra Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid... ORPHA:261494
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Neurogenic bladder, Perimembranous ventricular septal defect, Hydr... OMIM:608779
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Abnormal local... ORPHA:500
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
3C Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Ab... ORPHA:7
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Rubinstein-Taybi Syndrome 1
Hypospadias, Ventricular septal defect, Respiratory tract infection, Patent foramen ovale, Patent... OMIM:180849
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the kidney, Abnormality of... ORPHA:284227
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Mesocardia, Dilatation of the renal pelvis, Stage 5 chronic kidney d... ORPHA:2044
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Situs inversus totalis... OMIM:267010
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Gaucher Disease, Type Ii
Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Bicuspid aortic valve, Mitral stenosis, Mitral atresia... ORPHA:1596
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Atrial septal defect, Hypos... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Atrial septal defect, Hypos... ORPHA:353277
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Mckusick-Kaufman Syndrome
Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr... OMIM:236700
Tetraploidy
Aplasia/Hypoplasia of the lungs, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Ventricular septal defect, Vesicoureteral reflux, Doub... OMIM:301056
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... ORPHA:1330
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... ORPHA:2257
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... ORPHA:261311
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Patent foramen... OMIM:618950
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Coarct... OMIM:600460
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Abnormal lung m... ORPHA:141127
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Fetal pyelectasis, Bilateral rena... ORPHA:49
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... OMIM:300855
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Hydronephrosis OMIM:300048
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Hydronephrosis OMIM:222300
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
22Q11.2 Deletion Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:567
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis OMIM:620327
Trisomy 1Q
Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Congenital meg... ORPHA:261344
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Atrial septal defect, Hypospadias, Ventricular septal defect, P... OMIM:618316
Charge Syndrome
Atrial septal defect, Overriding aorta, Renal agenesis, Ventricular septal defect, Secundum atria... OMIM:214800
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Atrial septal de... OMIM:614866
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Polycystic kidney dysplasia, Atrial septal defec... OMIM:263520
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia OMIM:236500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Pu... OMIM:616897
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:616546
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:611134
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... ORPHA:33001
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia ORPHA:1745
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Mosaic Trisomy 1
Ventricular septal defect, Renal cyst, Coarctation of aorta, Renal cortical cysts, Pulmonary hypo... ORPHA:1692
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... OMIM:606812
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular septal defect, Pulmonary arte... OMIM:611812
Axial Osteomalacia
Renal cyst OMIM:109130
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val... ORPHA:99776
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Pulmonic stenosis OMIM:620141
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, C... OMIM:249000
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney ORPHA:166035
Distal Deletion 12Q
Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki... ORPHA:96149
Hajdu-Cheney Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Polycystic kidney d... OMIM:102500
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hydronephrosis ORPHA:1780
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis ORPHA:457193
Bardet-Biedl Syndrome 17
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... OMIM:619167
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Atrial septal defect, Hydroureter, Bicuspid aortic valve, Valvular pul... OMIM:300707
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta OMIM:616145
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... OMIM:146510
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... ORPHA:2255
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Lymphangiectasis, Renal cyst OMIM:602579
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia, Coarctation of the descending aortic arch ORPHA:79321
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Vascular dilatation, Abnormal heart morphology, Ovarian cyst, Poly... OMIM:311200
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia OMIM:617260
Craniofacioskeletal Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Atrial... OMIM:300712
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... OMIM:220500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Th... OMIM:235510
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... OMIM:614922
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Zaki Syndrome
Patent foramen ovale, Patent ductus arteriosus, Renal agenesis, Hydronephrosis OMIM:619648
Femoral-Facial Syndrome
Renal agenesis, Truncus arteriosus, Abnormal renal collecting system morphology, Ventricular sept... OMIM:134780
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta, Hydronephr... OMIM:614921
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutacon... ORPHA:445038
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arte... OMIM:201000
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret... ORPHA:250989
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph... OMIM:235255
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Renal cyst, Abnormal heart morphology, Ovarian cyst, Me... ORPHA:400
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of... OMIM:618454
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:610733
Czeizel-Losonci Syndrome
Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Pulmon... ORPHA:2437
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar... OMIM:210710
Duane-Radial Ray Syndrome
Renal malrotation, Atrial septal defect, Renal agenesis, Ventricular septal defect, Renal hypopla... OMIM:607323
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothorax, Pancreatic cys... ORPHA:731
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Netherton Syndrome
Recurrent respiratory infections, Ectopic kidney, Aminoaciduria, Emphysema, Hydronephrosis ORPHA:634
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interr... ORPHA:163979
Scleromyxedema
Abnormal coronary artery morphology, Abnormality of the kidney, Transient ischemic attack, Abnorm... ORPHA:167635
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Mitral valve prolapse OMIM:104350
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Acrorenal-Mandibular Syndrome
Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypoplasia, Polycyst... OMIM:200980
Joubert Syndrome 14
Intracranial hemorrhage, Ventricular septal defect, Renal cyst OMIM:614424
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Koolen-De Vries Syndrome
Atrial septal defect, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular sept... OMIM:610443
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Patent ductus ... ORPHA:2092
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Bladder trabecu... OMIM:614080
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... ORPHA:453499
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... ORPHA:449395
Opitz Gbbb Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent foramen ovale, Patent ductus... ORPHA:2745
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lymp... ORPHA:1655
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Meckel Syndrome, Type 6
Bilobed right lung, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Pulmonary hypoplasia, H... OMIM:612284
Seckel Syndrome 9
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:616777
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... OMIM:618460
Genitopatellar Syndrome
Hydronephrosis, Atrial septal defect, Multicystic kidney dysplasia, Pulmonary hypoplasia ORPHA:85201
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Patent foramen ovale, Aortopulmonary collater... OMIM:617557
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Hydronephrosis OMIM:616449
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Melnick-Needles Syndrome
Vesicoureteral reflux, Recurrent respiratory infections, Abnormal cardiac septum morphology, Hydr... ORPHA:2484
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... OMIM:612474
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Zellweger Syndrome
Ventricular septal defect, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Tarp Syndrome
Subdural hemorrhage, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis OMIM:311900
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Cutis Laxa, Autosomal Recessive, Type Ic
Vascular dilatation, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder div... OMIM:613177
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale, Hydronephrosis OMIM:619179
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... OMIM:619657
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... OMIM:617107
8P23.1 Microdeletion Syndrome
Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab... ORPHA:251071
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Hydronephrosis ORPHA:3079
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic... ORPHA:444072
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch, Nephroblastoma OMIM:267000
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... ORPHA:411709
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis ORPHA:2315
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hydronephrosis, Micropenis, Perimembranous ventricular septal defect, Pulmonary hypoplasia ORPHA:83617
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Pul... OMIM:214100
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... ORPHA:2962
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Abnormal heart morphology, Abnormality of the urinary system, Micropenis, Tetralogy... ORPHA:96092
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Hypospadias, Patent ductus arteriosus, Methylmalonic aciduria, ... ORPHA:17
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Recurrent urinary tract infections, Prominent superficial veins... OMIM:612541
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent foramen ovale, Patent ductus arteriosus, Hypertrophy of the urinary bladder, ... ORPHA:280633
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Bicuspid aortic valve, Abnormal cardiac septum morphology, Ves... ORPHA:96169
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pancreatic cysts, Pericardial effusion, Abnormal lung morphology, Abnormal l... ORPHA:464329
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Maternal Phenylketonuria
Ventricular septal defect, Abnormal renal morphology, Coarctation of aorta, Abnormal heart morpho... ORPHA:2209
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma ORPHA:1001
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent lower respira... OMIM:617913
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464311
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Recurrent pneumonia, Male urethral meatus stenosis, Left ... ORPHA:464738
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphol... OMIM:616737
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ventricular septal defect, Ectopic kidney, Patent d... OMIM:192350
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... OMIM:191100
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst, Abnormal heart morp... ORPHA:369837
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Alagille Syndrome 1
Duplicated collecting system, Atrial septal defect, Ventricular septal defect, Multiple small med... OMIM:118450
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:250410
Trisomy 8P
Abnormal atrioventricular connection, Fetal pyelectasis, Recurrent upper respiratory tract infect... ORPHA:264450
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Robinow Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart mor... ORPHA:97360
Lymphangioleiomyomatosis
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi... ORPHA:538
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect... OMIM:300968
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ... ORPHA:1507
Alzahrani-Kuwahara Syndrome
Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Paten... OMIM:619268
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Alg9-Cdg
Hypoplasia of the bladder, Ventricular septal defect, Hepatic cysts, Ureteral hypoplasia, Pericar... ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Hypospadias ORPHA:2075
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent... ORPHA:709
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Atele... OMIM:188400
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... OMIM:613254
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of the lung, Renal cell carcinom... ORPHA:2869
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464306
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronep... OMIM:618653
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma... ORPHA:1556
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... ORPHA:90324
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pneumothorax, Functional abnormality of the bladder, Nephrolithi... ORPHA:2953
Tarp Syndrome
Horseshoe kidney, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fallot, Persistent lef... ORPHA:2886
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Abnormal pulmonary interstitial mo... ORPHA:35687
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Pulmonary hypoplasia, Cystic renal dyspl... OMIM:608022
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic ... OMIM:157800
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Ventricular septal defect, Hydronephrosis OMIM:617798
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Ventricular septal defect, Pulmonary artery stenosis, Double outlet... OMIM:280000
Immunodeficiency 96
Recurrent lower respiratory tract infections, Multicystic kidney dysplasia OMIM:619774
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
7Q11.23 Microduplication Syndrome
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Enur... ORPHA:96121
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron... OMIM:611209
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Stroke-like episode, Nephrotic syndr... OMIM:212065
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Unilateral renal agenesis ORPHA:457284
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... ORPHA:261197
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Truncus arteriosus, Renal hypoplasia/aplasia, Abnor... ORPHA:2538
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu... ORPHA:3015
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Pulmonary valve atresia, Transposition of t... ORPHA:3474
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... OMIM:272950
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Atrioventricular... ORPHA:508488
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carcinoma, Multiple renal cysts... OMIM:193300
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Pulmonic stenosis, Atrial ... OMIM:257300
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Coarct... ORPHA:2308
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Baller-Gerold Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V... ORPHA:1225
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Glomerulopathy, Recurrent intrapulmonary hemorrhage, Ureteral s... ORPHA:900
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Recurrent upper respiratory tract infections, Hydronephrosis OMIM:612513
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morph... ORPHA:1052
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Polycystic ovaries, Pul... ORPHA:137675
Atypical Werner Syndrome
Renal neoplasm, Prominent superficial veins, Abnormal cerebral vascular morphology, Aortic valve ... ORPHA:79474
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmonary artery stenosis, H... ORPHA:140952
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis OMIM:257920
Al-Gazali Syndrome
Recurrent pneumonia, Hydronephrosis OMIM:609465
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal d... OMIM:300963
Congenital Myopathy 17
Respiratory tract infection, Renal hypoplasia, Pulmonary hypoplasia, Ureteropelvic junction obstr... OMIM:618975
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Ectopic kidney, Patent d... OMIM:164210
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis OMIM:615926
X-Linked Dominant Chondrodysplasia Punctata
Abnormal lung morphology, Hydronephrosis ORPHA:35173
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kid... OMIM:208500
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Alveolar Echinococcosis
Pulmonary cyst, Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder m... ORPHA:284
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Renal hypoplasia, Pulmonary hyp... OMIM:269860
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Otopalatodigital Syndrome Type 2
Hypospadias, Abnormal heart valve morphology, Ureteral obstruction, Abnormal cardiac septum morph... ORPHA:90652
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Ventricular septal defect, Abnormal renal mo... OMIM:122470
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Juxtaductal coarctation of the aorta, Perica... ORPHA:3310
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Atrial septal defect, Spontaneous pneumothorax, Bicuspid aortic valve, Arte... OMIM:610168
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Aortic root aneurysm, Vesicoureteral refl... OMIM:616580
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Recurrent urinary tract infections, Atrial septal defect, Renal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Atrial septal defect, Renal... ORPHA:363958
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Renal ... ORPHA:818
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia OMIM:616300
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal heart morphology, Tota... ORPHA:487796
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Ventricular septal defect, Renal cyst, Chyloth... OMIM:229850
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Hydronephros... OMIM:308050
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation ORPHA:3301
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Congenital posterior ... OMIM:136140
Cerebrocostomandibular Syndrome
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst... OMIM:117650
Ulbright-Hodes Syndrome
Abnormal penis morphology, Pneumothorax, Renal hypoplasia, Pulmonary hypoplasia, Polycystic kidne... ORPHA:3404
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... ORPHA:352665
Roberts-Sc Phocomelia Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Long penis, Horseshoe kidney, P... OMIM:268300
Microphthalmia, Syndromic 2
Hypospadias, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aorti... OMIM:300166
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Frontometaphyseal Dysplasia 1
Hydroureter, Cor pulmonale, Hydronephrosis, Mitral valve prolapse OMIM:305620
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins OMIM:610682
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia OMIM:200995
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Bicuspid... ORPHA:261537
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Abnormal cardiac septum morphol... ORPHA:138
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl... OMIM:616975
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel... ORPHA:261552
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... ORPHA:1340
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormal heart... ORPHA:1606
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis OMIM:115150
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral refl... OMIM:616894
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... ORPHA:892
Trisomy 18
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Abnormality of the upper urinary... ORPHA:3380
C Syndrome
Patent ductus arteriosus, Ventricular septal defect, Renal cortical cysts OMIM:211750
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,... ORPHA:2750
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Atelosteogenesis Type I
Multiple renal cysts, Pulmonary hypoplasia ORPHA:1190
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Kabuki Syndrome 1
Crossed fused renal ectopia, Ventricular septal defect, Micropenis, Coarctation of aorta, Atrial ... OMIM:147920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left ... ORPHA:438213
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Adams-Oliver Syndrome
Pulmonary artery atresia, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Arteriovenous... ORPHA:974
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Ascending aorta hypoplasia,... OMIM:619503
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction, Carotid artery tortuosity OMIM:304150
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Pulmonary ... ORPHA:96334
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia, Pulmonary hypoplasia OMIM:271520
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Ventricular septal defect,... OMIM:619522
Mowat-Wilson Syndrome
Hypospadias, Pulmonary artery sling, Abnormality of the kidney, Ventricular septal defect, Patent... OMIM:235730
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis ORPHA:847
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:616268
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Renal c... OMIM:312870
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Cranioectodermal Dysplasia 2
Renal insufficiency, Patent ductus arteriosus, Recurrent pneumonia, Renal cyst, Atrial septal def... OMIM:613610
Okamoto Syndrome
Ventricular septal defect, Urinary incontinence, Abnormal left ventricle morphology, Primum atria... ORPHA:2729
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect ORPHA:1393
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Recurrent respiratory infections, Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney ... OMIM:266920
Raine Syndrome
Hydronephrosis, Hydroureter, Pulmonary hypoplasia OMIM:259775
Schinzel-Giedion Syndrome
Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micrope... ORPHA:798
Melnick-Needles Syndrome
Recurrent respiratory infections, Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prola... OMIM:309350
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... ORPHA:363700
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Hydronephrosis, Pulmonic stenosis ORPHA:100078
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Hyperlysinemia
Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery hypoplasia, Hyperlysinuria, Decrea... ORPHA:2203
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus, Atrial septal defect, Multicystic kidney dysplasia, Ventricular septal ... OMIM:300373
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hypospadias, Mitral stenosis, Ventricular septal defect, Patent... ORPHA:955
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Recurrent pneumonia, Bronchiectasis, Hydronephrosis, Recurren... OMIM:251260
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Pneumonia, Left atrial enlargement, Cardiomegaly... OMIM:619991
Joubert Syndrome 21
Hyperechogenic kidneys, Pulmonary hypoplasia, Renal cyst OMIM:615636
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Atrial septal defect, Micropenis, Hydronephrosis OMIM:269150
Knobloch Syndrome 1
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... OMIM:267750
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Hydroureter, Hypospadias, Ventricular septal defect, Ectopic ki... OMIM:135900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Recurrent respiratory infections, Duplicated collecting system, Hydroureter, Ren... OMIM:129900
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Atrial septal defect, Hypospadias, Abnormality of the ... ORPHA:821
Townes-Brocks Syndrome
Atrial septal defect, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the k... ORPHA:857
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... OMIM:614609
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology ORPHA:1826
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Long penis, Nephrolithiasis, Cardiomyopathy, Aort... OMIM:135500
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary ... OMIM:614437
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Descending aortic dissection, Emphysema, Di... ORPHA:558
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pneumothorax, Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse, Atrial septal ... OMIM:601776
Cousin Syndrome
Hydronephrosis OMIM:260660
Hydrolethalus Syndrome 1
Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Abnormal lung lob... OMIM:236680
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Genitopatellar Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defe... OMIM:606170
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy... ORPHA:699
Dubowitz Syndrome
Hypospadias, Hydronephrosis ORPHA:235
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Abnormal... ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Townes-Brocks Syndrome 1
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral va... OMIM:107480
Beckwith-Wiedemann Syndrome
Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicouret... OMIM:130650
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmonic stenosis, ... OMIM:245150
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... ORPHA:2785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Glomerulopathy, Renal insufficiency, Proteinuria, Atelectasis, ... ORPHA:534
Campomelic Dysplasia
Hypospadias, Recurrent upper respiratory tract infections, Abnormal heart morphology, Recurrent l... OMIM:114290
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperec... ORPHA:397715
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Left ven... ORPHA:99106
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology ORPHA:171929
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Ebstein anomaly of the tricuspid valve, Patent foramen ovale,... ORPHA:506358
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Atrial... ORPHA:480880
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Atrial septal defect OMIM:617300
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Ure... ORPHA:564
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Nephrolithiasis, Hypercalciuria, Hypertrophic cardiomyopathy,... ORPHA:116
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Dilatation of the sinus of Valsalva, Hydronephrosis, Hypospadias OMIM:304120
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, ... ORPHA:93271
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Ventricular septal defect, Hydronephrosis, Recurrent bronchitis OMIM:620330
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis ORPHA:2363
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal hyp... OMIM:261540
Proteus Syndrome
Enlarged polycystic ovaries, Long penis, Abnormal lung lobation, Renal cyst, Neoplasm of the lung... ORPHA:744
Marfan Syndrome
Bicuspid aortic valve, Emphysema, Pneumothorax, Mitral annular calcification, Mitral valve prolap... OMIM:154700
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Renal agenesis, Pulmonary hypoplasia, Urethral atresia OMIM:273395
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent urinary tract infections, Hypospadias, Congenital malformation o... ORPHA:3455
Johanson-Blizzard Syndrome
Hypospadias, Ventricular septal defect, Urethrovaginal fistula, Situs inversus totalis, Dilated c... OMIM:243800
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... OMIM:187300
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, High urinary gonadotropin leve... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, High urinary gonadotropin leve... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, High urinary gonadotropin leve... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, High urinary gonadotropin leve... ORPHA:881
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormality of the uppe... ORPHA:2273
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung lobation, Renal hyp... ORPHA:2052
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Cornelia De Lange Syndrome
Atrial septal defect, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hyp... ORPHA:199
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Recurrent u... OMIM:308205
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Pallister-Killian Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Coarctation of aort... OMIM:601803
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Lipodystrophy, Familial Partial, Type 7
Pleural effusion, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation OMIM:606721
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Abnormality of the muscula... ORPHA:137667
Pmm2-Cdg
Pericarditis, Proteinuria, Pericardial effusion, Intracranial hemorrhage, Nephrotic syndrome, Mul... ORPHA:79318
Juvenile Polyposis Syndrome
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:2929
Meige Disease
Varicose veins ORPHA:90186
Capillary Malformation-Arteriovenous Malformation 2
Vein of Galen aneurysmal malformation OMIM:618196

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ephb4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ephb4.

No publications found that use IMPC mice or data for Ephb4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ephb4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter