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Gene: Slco2a1 MGI:1346021

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier organic anion transporter family, member 2a1
Synonyms:
Slc21a2,  2310021C19Rik,  mPgt,  Pgt

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 Slco2a1 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 Slco2a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level OMIM:167100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
OMIM:614441
Pachydermoperiostosis
ORPHA:2796

The table below shows human diseases predicted to be associated to Slco2a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro... OMIM:618845
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract ORPHA:1705
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy OMIM:619705
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:99811
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return ORPHA:99105
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation ORPHA:369840
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Patent ductus arteriosus OMIM:619519
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hypospadias OMIM:618330
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... OMIM:608978
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Right vent... ORPHA:99104
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Micropenis, Patent for... OMIM:619189
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Hy... OMIM:617661
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Pentasomy X
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:11
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo... ORPHA:2184
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Patent ductus arteriosus OMIM:610498
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Midshaft hypospadias, Dextrocardia, Renal hypoplasia/aplasia ORPHA:2863
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary ar... ORPHA:99106
Alg9-Cdg
Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericardial effusion, ... ORPHA:79328
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Char Syndrome
Patent ductus arteriosus OMIM:169100
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... OMIM:618142
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous ret... ORPHA:1120
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... ORPHA:2547
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormality of the urinary system, Abnormal cardiac septum morphology, ... ORPHA:2412
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... ORPHA:2847
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Death in infancy, Hypoplasia of penis, Ventricular septal defect ORPHA:452
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Microphthalmia, Syndromic 9
Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus,... OMIM:601186
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Micropenis, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... OMIM:615355
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale OMIM:616867
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Hematuria, Abno... ORPHA:90308
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Patent ... OMIM:613680
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve morphology... ORPHA:99103
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Analbuminemia
Hypercholesterolemia, Patent ductus arteriosus OMIM:616000
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Horseshoe kidney OMIM:218350
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteriosus, Atrial ... OMIM:618316
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Abnormal... ORPHA:500159
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Patent ductus ar... OMIM:267010
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Lethal Faciocardiomelic Dysplasia
Patent ductus arteriosus, Hypoplastic left heart ORPHA:1972
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Atrial septal defect, Hom... OMIM:614857
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... OMIM:617516
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus ORPHA:1516
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Death in infancy, Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Distal Deletion 17Q
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:1597
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias OMIM:617751
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Patent foramen ovale, Endocardial fibroelastosis ORPHA:60041
Hereditary Orotic Aciduria
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro... ORPHA:30
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron... OMIM:614846
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus,... OMIM:614576
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Renal hypoplasia, Micropenis ORPHA:171839
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal renal morpho... ORPHA:329224
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Hydronephrosis OMIM:619797
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:615668
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... OMIM:220500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct... OMIM:600460
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Abnormal aortic valve... ORPHA:86818
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... OMIM:617159
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Death in childhood OMIM:618961
Emanuel Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosus, Unilateral ren... OMIM:609029
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy... ORPHA:3378
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:2655
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:93274
8P23.1 Microdeletion Syndrome
Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab... ORPHA:251071
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1842
Kapur-Toriello Syndrome
Patent ductus arteriosus, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... OMIM:270100
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Ureteral atresia, Stage 5 ... OMIM:208540
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Death in childhood OMIM:612938
Trisomy 17P
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef... ORPHA:261290
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve, Micropenis OMIM:243310
Ssr4-Cdg
Patent ductus arteriosus, Horseshoe kidney ORPHA:370927
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... OMIM:265380
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse... OMIM:115470
Prune Belly Syndrome
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Fanconi Anemia, Complementation Group B
Death in infancy, Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Coarctatio... OMIM:300514
Odontochondrodysplasia
Death in infancy, Patent ductus arteriosus ORPHA:166272
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Neonatal ... OMIM:620300
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Patent ductus arteriosus, Death in childhood, Nephrotic syndrome, Focal segmental gl... OMIM:617303
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... ORPHA:391641
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid... OMIM:612562
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Right atrial enlargement ORPHA:70591
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Vesicoureteral reflux, Patent ductus arteriosus, Renal atrophy, Hypospadias OMIM:618659
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:606003
Distal Triplication 15Q
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... ORPHA:314588
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:589821
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... OMIM:600001
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Renal tubular dysf... OMIM:614886
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Hypospadias ORPHA:77298
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:618870
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Patent ductus arteriosu... ORPHA:96170
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... ORPHA:33001
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Micropenis, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis OMIM:609757
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... OMIM:612582
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Atrial septal d... OMIM:277380
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Patent ductus arteriosus, Abnormal renal corticomedullary differen... OMIM:617397
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus, Enuresis, Recurrent urinary tract infections, Hypospadias OMIM:619293
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale OMIM:616866
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
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
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arte... OMIM:201000
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis ORPHA:457193
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Kagami-Ogata Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:608149
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Patent ductus arteriosus,... OMIM:601808
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus OMIM:608799
Zaki Syndrome
Patent ductus arteriosus, Renal agenesis, Patent foramen ovale, Hydronephrosis OMIM:619648
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Pallister-Hall Syndrome
Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Ventricular septal defect, Di... OMIM:146510
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the urinary system, Atrial se... OMIM:244300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... OMIM:620024
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Unilateral rena... OMIM:617190
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Renal insufficiency, Patent foramen ovale OMIM:251290
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Pa... ORPHA:99776
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop... OMIM:313850
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Hydronephrosis OMIM:300048
Intellectual Disability-Strabismus Syndrome
Hypospadias, Patent ductus arteriosus, Atrial septal defect, Micropenis, Medullary nephrocalcinosis ORPHA:363528
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Micropenis, Ventricular septal defect, Hypospadias OMIM:106260
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... ORPHA:2712
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... ORPHA:980
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Oligosacchariduria ORPHA:397709
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... OMIM:300963
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Abnormal heart morphol... ORPHA:505248
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morpho... ORPHA:369837
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept... OMIM:158170
Distal Deletion 10Q
Patent ductus arteriosus, Functional abnormality of the bladder, Vesicoureteral reflux, Horseshoe... ORPHA:96148
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Dea... OMIM:214100
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Patent duct... OMIM:610443
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy, Patent ductus arteriosus ORPHA:1790
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:1860
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
D-Glyceric Aciduria
Patent ductus arteriosus, Aminoaciduria, Micropenis OMIM:220120
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Patent foramen ovale ORPHA:293939
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
Recombinant 8 Syndrome
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Pulmonary artery ... ORPHA:96167
Silver-Russell Syndrome 3
Patent ductus arteriosus, Penoscrotal hypospadias OMIM:616489
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... ORPHA:2255
7Q31 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus after birth at term, Galactosuria, Enuresis nocturna ORPHA:251061
Carpenter Syndrome
Patent ductus arteriosus ORPHA:65759
Sotos Syndrome
Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ... OMIM:117550
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, A... OMIM:130720
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Gm1 Gangliosidosis
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cardiomyopathy, C... ORPHA:354
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Renal duplication, Ventricular septal defect, Ectopic kidney OMIM:613309
3Q29 Microdeletion Syndrome
Patent ductus arteriosus, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis ORPHA:65286
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Horseshoe... OMIM:616368
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphol... OMIM:616737
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Micropenis, Patent ductus arteriosus, Vesicoureteral reflux OMIM:609625
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Micropenis, Patent foramen ovale, Hypospadias OMIM:607143
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atrial septal de... OMIM:603467
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Mitral valve prolapse OMIM:104350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... OMIM:614080
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Penoscrotal transposition, Patent ductus arteriosus, Pulmonic stenosis, Left ventric... OMIM:619148
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... ORPHA:2637
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ... ORPHA:163956
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardi... OMIM:610505
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypospadias, Abnormal renal collecting system morphology, Patent ductus arteriosus, Methylmalonic... ORPHA:17
Mosaic Trisomy 16
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear... ORPHA:1708
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic... OMIM:610759
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypospadias OMIM:217980
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney... OMIM:606232
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
C Syndrome
Patent ductus arteriosus, Ventricular septal defect, Renal cortical cysts OMIM:211750
Deafness-Craniofacial Syndrome
Patent ductus arteriosus ORPHA:3241
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
Opitz Gbbb Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Abnormal... ORPHA:2745
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:610168
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Nephrocalcinosis, Patent ductus arteriosus OMIM:618005
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:277600
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... OMIM:602782
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of... OMIM:618454
Lymphatic Malformation 13
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death OMIM:620244
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
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Neonatal death, Patent for... OMIM:269860
White-Sutton Syndrome
Atrial septal defect, Duplicated collecting system, Patent ductus arteriosus, Patent foramen ovale OMIM:616364
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:261279
Alg12-Cdg
Hypospadias, Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertro... ORPHA:79324
Distal Deletion 15Q
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... ORPHA:1596
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret... ORPHA:250989
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl... ORPHA:280633
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Renal hypoplasia, Abn... ORPHA:84064
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Vesicoureteral refl... OMIM:616894
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Patent ductus arteriosus, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduri... OMIM:617248
Neurodevelopmental Disorder With Spasticity And Poor Growth
Vesicoureteral reflux, Patent ductus arteriosus, Patent foramen ovale OMIM:618076
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Renal tubular acidosis, Ventricular septal defect, Patent foramen ovale OMIM:613457
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a... ORPHA:141127
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, Secundum atrial... OMIM:612541
Craniofacioskeletal Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Interrupted aortic arch, Atrial... OMIM:300712
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal meg... OMIM:619351
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus, Ectopic kidney OMIM:617247
Desmosterolosis
Patent ductus arteriosus, Renal agenesis, Anomalous pulmonary venous return, Renal hypoplasia/apl... ORPHA:35107
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79345
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Patent ductus arteriosus, Intracranial hemorrhag... OMIM:617053
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464311
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Death in infancy, Ventricular septal defect, Patent duct... OMIM:274000
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus, Renal dysplasia, Hydronephrosis OMIM:300968
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enur... ORPHA:96121
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
8P11.2 Deletion Syndrome
Atrial septal defect, Hypoplasia of penis, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Patent ductus ... ORPHA:2092
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Intracranial hemorrhage, Interr... ORPHA:163979
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Horseshoe... OMIM:227646
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Aminoaciduria, Abnormal cardiac septum morphology, Galactosuria, Organi... ORPHA:85276
Knobloch Syndrome
Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter, Dextrocardia ORPHA:1571
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... OMIM:618460
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s... OMIM:301068
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464306
Atelis Syndrome 2
Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Mgat2-Cdg
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:79329
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Ivic Syndrome
Patent ductus arteriosus, Tetralogy of Fallot OMIM:147750
Vater/Vacterl Association
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d... OMIM:192350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Stillbirth, Renal hypoplasia, Renal cyst OMIM:616300
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... OMIM:608328
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect, Steatorrhea OMIM:618268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:353281
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus ORPHA:2095
Coffin-Siris Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear... ORPHA:1465
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Patent foramen ovale, Renal dysplasia OMIM:300990
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus OMIM:618162
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Atrial septal defec... OMIM:619869
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Death in infancy, Hypospadias, ... OMIM:270400
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis OMIM:257920
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Enlarged kidney, Stroke, Unilateral renal agenesis OMIM:618188
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Dilatation of the sinus of Valsalva, Patent ductus arte... ORPHA:284984
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Death in infancy, Bilateral fetal pyelectasis, Patent ductus arteri... OMIM:300868
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Patent foramen ovale, Abnormality of the kidney, Abnormal heart morphology ORPHA:177907
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... OMIM:619534
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Retinal arteriolar t... ORPHA:567
Distal Deletion 12Q
Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki... ORPHA:96149
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Patent fo... OMIM:617137
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Patent ductus arteriosus, Proteinuria ORPHA:1272
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus OMIM:230600
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:1051
Feingold Syndrome
Patent ductus arteriosus ORPHA:1305
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl... OMIM:616975
Desmosterolosis
Patent ductus arteriosus, Total anomalous pulmonary venous return OMIM:602398
Ogden Syndrome
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atri... OMIM:300855
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Patent foramen ovale ORPHA:457395
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal heart morphology, Tota... ORPHA:487796
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Micropenis, Ventricular septal defect, Hypospadias OMIM:206900
Hunter-Macdonald Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse OMIM:611962
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Atrial septal defect, Dy... OMIM:602535
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Multicystic kidney dysplasia, Patent ductus arteriosus, Ventricular septal ... OMIM:300373
9Q33.3Q34.11 Microdeletion Syndrome
Patent ductus arteriosus, Micropenis, Abnormality of the kidney ORPHA:495818
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Proteinuria OMIM:616682
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Long penis, Nephrolithiasis, Cardiomyopathy, Aort... OMIM:135500
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... ORPHA:818
Degcags Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Bilateral renal dyspl... OMIM:619488
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Death in infancy, Bicuspid aortic valve, Paten... OMIM:612289
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma... ORPHA:1556
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d... OMIM:102500
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Hypospadias, Patent ductus arteriosus, Multiple renal... ORPHA:955
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove... ORPHA:508488
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear... ORPHA:444077
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Patent ductus arteriosus OMIM:259100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Unilateral renal agenesis OMIM:213980
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:353277
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Atrial septal defect, Tetral... ORPHA:1519
Weaver Syndrome
Patent ductus arteriosus OMIM:277590
Juvenile Polyposis Of Infancy
Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology ORPHA:79076
Neu-Laxova Syndrome 1
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Stillbirth, Transposition of... OMIM:256520
Cerebrocostomandibular Syndrome
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst... OMIM:117650
Cranioectodermal Dysplasia 2
Renal insufficiency, Patent ductus arteriosus, Renal cyst, Atrial septal defect, Left ventricular... OMIM:613610
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, C... OMIM:249000
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Coarctat... OMIM:180849
Zttk Syndrome
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Patent ductus arteriosus, Horsesh... OMIM:617140
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis OMIM:154400
17Q24.2 Microdeletion Syndrome
Vesicoureteral reflux, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti... OMIM:300166
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Pat... OMIM:616268
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Renal hypoplasia OMIM:620005
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal... ORPHA:1606
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve p... ORPHA:261337
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Restrictive Dermopathy 1
Ureteral duplication, Hypospadias, Patent ductus arteriosus, Stillbirth, Neonatal death, Atrial s... OMIM:275210
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... OMIM:619522
Eisenmenger Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, ... ORPHA:97214
Acrofacial Dysostosis, Cincinnati Type
Patent ductus arteriosus OMIM:616462
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargement, Hypospadi... OMIM:619991
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Abnormal cardiac septum morphol... ORPHA:138
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum, Patent ductus arteriosus, Aortic rupture OMIM:614557
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... ORPHA:857
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal... ORPHA:3047
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Horseshoe kidney, Coarctation of aorta OMIM:617088
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Urinary incontinence OMIM:619934
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Patent ductus arteriosus, Micropenis, Hypospadias ORPHA:2282
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent... ORPHA:709
Noonan Syndrome 1
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic ... OMIM:163950
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... OMIM:607872
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:619480
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Fetal pyelectasis, ... OMIM:619841
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten... OMIM:188400
Charge Syndrome
Overriding aorta, Ventricular septal defect, Renal agenesis, Pulmonary artery atresia, Secundum a... OMIM:214800
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Dextrocardia, Patent ductus arteriosus, Ascending tubular aort... ORPHA:1662
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Proboscis Lateralis
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis... ORPHA:141099
Turnpenny-Fry Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... OMIM:618371
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Cardiomyopathy, Dup... OMIM:312870
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Epispadias, Patent ductus arteriosus, Unilateral renal hypoplasia, Atr... OMIM:615948
Mowat-Wilson Syndrome
Hypospadias, Ventricular septal defect, Abnormality of the kidney, Pulmonary artery sling, Patent... OMIM:235730
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Renal hypoplasia/aplasia, Persistent cloaca ORPHA:1112
Coffin-Siris Syndrome 1
Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Patent ductus arteriosus, Re... OMIM:135900
Treacher-Collins Syndrome
Patent ductus arteriosus, Hypoplasia of penis ORPHA:861
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Knobloch Syndrome 1
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... OMIM:267750
Orofaciodigital Syndrome Type 14
Epispadias, Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta, Phimosis ORPHA:363611
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Abnormality of... ORPHA:821
Pallister-Hall Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... ORPHA:672
Knobloch Syndrome 2
Patent ductus arteriosus OMIM:618458
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Bicuspid aortic valve, Urinary incontinence, Hypospadias, Abnormali... ORPHA:2152
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Bilateral renal dysplasia, Unilateral renal agenesis, Patent ductus ar... ORPHA:500150
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel... ORPHA:261552
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal hyp... OMIM:261540
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, Horseshoe kidney, S... OMIM:268300
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis ORPHA:2363
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial septal defect, Renal dysplasia ORPHA:480880
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d... OMIM:164210
Cohen-Gibson Syndrome
Patent ductus arteriosus OMIM:617561
Pallister-Killian Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Coarctation of aort... OMIM:601803
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level OMIM:167100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
OMIM:614441
Pachydermoperiostosis
ORPHA:2796

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 Slco2a1

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 Slco2a1.

No publications found that use IMPC mice or data for Slco2a1.

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
Slco2a1em2(IMPC)Mhzh Indel Mice
Slco2a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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