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:
Pgt,  2310021C19Rik,  mPgt,  Slc21a2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 Recessive, 2
OMIM:614441
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
OMIM:167100
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
Tetralogy of Fallot, Patent ductus arteriosus, 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 2
Patent ductus arteriosus OMIM:617035
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, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hyperechogenic kidneys, Vent... OMIM:618719
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Dea... OMIM:618845
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the upper urinary tract ORPHA:1705
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic ste... OMIM:615382
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616276
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Hypoplastic left heart, Patent ductus arteriosus, Chronic kidney disease OMIM:617661
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Patent ductus arteriosus ORPHA:1321
Peripartum Cardiomyopathy
Abnormal atrioventricular valve morphology, Left atrial enlargement, Left ventricular hypertrophy... ORPHA:563
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Patent ductus arteriosus OMIM:211930
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Atrial Septal Defect, Sinus Venosus Type
Anomalous pulmonary venous return, Right ventricular dilatation ORPHA:99105
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Vesicoureteral reflux OMIM:601450
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Prune Belly Syndrome
Atrial septal defect, Urogenital sinus anomaly, Hydroureter, Ventricular septal defect, Patent du... ORPHA:2970
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:619189
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Abnormality of the urinary system, Tetralogy of Fallot, Patent... ORPHA:2184
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Renal hypoplasia/aplasia, Midshaft hypospadias, Patent ductus arteriosus ORPHA:2863
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Pentasomy X
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:11
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Unroofed coronary sinus, Right atrial enlargement, Anomalous o... ORPHA:99104
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Patent ductus arteriosus, Vascular dilatation OMIM:220220
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Ventricular septal defect, Recurrent urinary tract infections, Patent ductus ar... OMIM:613680
Char Syndrome
Patent ductus arteriosus OMIM:169100
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Patent ductus arteriosus, Abnormality of the bladder, Abnormality of the upper urina... ORPHA:2547
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Pulmonary artery... ORPHA:99106
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Prune Belly Syndrome
Hydroureter, Urethral valve, Abnormal heart morphology, Patent ductus arteriosus, Hydronephrosis,... OMIM:100100
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agene... OMIM:618142
Silver-Russell Syndrome 3
Hypospadias, Patent ductus arteriosus OMIM:616489
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Pa... ORPHA:2847
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Patent ductus arteriosus, Unilateral renal agenesis, Ventricular septal defect OMIM:608406
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Increased level of ri... ORPHA:488618
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormality of the urinary system, Patent ductus arteriosus, ... ORPHA:2412
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:615355
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:616501
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Abnormal tricuspid valve morphology, Patent ductus arteriosus, P... ORPHA:90308
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect ORPHA:452
Analbuminemia
Hypercholesterolemia, Patent ductus arteriosus OMIM:616000
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Patent ductus arteriosus ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus OMIM:610498
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Patent ductus arteriosus ORPHA:1972
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Hypospadias, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:1597
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Multicystic kidney dyspla... OMIM:267010
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Craniofacial Dyssynostosis
Patent ductus arteriosus ORPHA:1516
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy, Patent ductus arteriosus OMIM:613623
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Crossed fused re... ORPHA:3097
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Patent duc... OMIM:609029
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductus arteriosus, Recu... ORPHA:363444
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Congenital Disorder Of Glycosylation, Type Ih
Abnormal cardiac septum morphology, Patent ductus arteriosus, Abnormal heart morphology OMIM:608104
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Hardikar Syndrome
Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Recurrent urinary tract infecti... OMIM:612726
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Patent ductus arteriosus OMIM:616867
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:500159
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Death in childhood,... OMIM:600460
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal aortic valve morphology, Patent ductus arteriosus, Glomerulopathy, Microscopic hematuria... ORPHA:86818
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Patent ductus arteriosus, Hypospadias, Renal agenesis, Micropenis ORPHA:171839
Hereditary Orotic Aciduria
Patent ductus arteriosus, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria, Oro... ORPHA:30
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300963
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Patent ductus arteriosus OMIM:618961
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Proximal tubulopathy, Death in infancy, Patent d... OMIM:614576
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, Patent ductus... ORPHA:1880
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Right ventricular dilatation ORPHA:99103
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Trisomy 13
Atrial septal defect, Multiple renal cysts, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:3378
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:613457
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy ORPHA:1842
Johnson Neuroectodermal Syndrome
Micropenis, Right aortic arch, Patent ductus arteriosus, Ventricular septal defect OMIM:147770
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Abnormal renal morphology, Atrial septal defect, Ventricular septal defect, Patent ductus arterio... ORPHA:329224
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:93274
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect ORPHA:2328
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ureteral stenos... OMIM:615398
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Baraitser-Winter Syndrome 1
Micropenis, Aortic valve stenosis, Patent ductus arteriosus, Bicuspid aortic valve OMIM:243310
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinuria, Patent du... OMIM:617303
Ssr4-Cdg
Horseshoe kidney, Patent ductus arteriosus ORPHA:370927
Odontochondrodysplasia
Death in infancy, Patent ductus arteriosus ORPHA:166272
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:606003
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Hypospadias, Ureteral du... OMIM:617516
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Death in infancy, Patent ductus arteriosus, Coarctation of aorta, Rena... OMIM:300514
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:614886
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Feingold Syndrome Type 1
Tricuspid atresia, Nephritis, Horseshoe kidney, Interrupted aortic arch, Abnormal heart morpholog... ORPHA:391641
Sotos Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Nephroblastoma, Abnorm... OMIM:117550
Chops Syndrome
Horseshoe kidney, Abnormal cardiac septum morphology, Vesicoureteral reflux, Patent ductus arteri... OMIM:616368
Mckusick-Kaufman Syndrome
Glandular hypospadias, Atrial septal defect, Urogenital sinus anomaly, Ventricular septal defect,... ORPHA:2473
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... OMIM:612562
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Vesicoureteral reflux, Patent ductus arteriosus, Renal atrophy OMIM:618659
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Atrial septal defect, Cystic renal dysplasia, Ventricular septal defect, Patent ductus arteriosus... OMIM:220500
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Patent ductus arteriosus, Glomerulopathy, Tubulointerstitial ... ORPHA:33001
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Patent duc... ORPHA:96170
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Right ventricular dilatation ORPHA:70591
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:612938
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect ORPHA:77298
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Trisomy 17P
Urethral valve, Patent ductus arteriosus, Urethral stenosis, Aortic valve stenosis, Hypoplastic l... ORPHA:261290
Distal Tetrasomy 15Q
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductus arteriosus, Hypo... ORPHA:314588
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery athero... ORPHA:435638
Trisomy 1Q
Ventricular septal defect, Congenital megaureter, Patent ductus arteriosus, Multicystic kidney dy... ORPHA:261344
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Enlarged kidney, Patent ductus arteriosus, Renal dysplasia, Aortic valve st... OMIM:208540
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... OMIM:616564
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... OMIM:601808
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus OMIM:608799
Kagami-Ogata Syndrome
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:608149
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent urinary tract infections, Patent ductus arteriosus, Enuresis, Hypospadias OMIM:619293
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Abnormality of the urinary system, Patent ductus... OMIM:244300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Renal cyst, Hydr... OMIM:618454
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect, Patent ductus a... OMIM:605275
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Patent ductus arteriosus, Cor triatriatum, Pulmonic stenosis, Hydronephrosi... OMIM:612541
Mosaic Trisomy 9
Atrial septal defect, Multiple renal cysts, Horseshoe kidney, Ventricular septal defect, Abnormal... ORPHA:99776
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618870
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Ventricular septal defect, Hydroureter, Decreased circulating... OMIM:146510
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Pulmonic ... OMIM:201000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Patent ductus arteriosus, Pulmonary artery sten... OMIM:265380
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Oligosacchariduria ORPHA:397709
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Micropenis, Patent ductus arteriosus, Hypospadias OMIM:607143
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:121050
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ectopic kidney, Ventricular septal defect OMIM:613309
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Enlarged kidney, Proteinuria, Patent ductus arte... ORPHA:505248
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Hypospadias, Renal agenesis, Transposition of the great... OMIM:313850
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent ductus arteriosus, Concentric hypertrophic cardiomyopathy, Death i... OMIM:610505
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal dysplasia, Hypoplastic left heart, Mitral stenosis, Renal cyst, C... OMIM:617260
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Hydronephrosis OMIM:300048
Chromosome 10Q26 Deletion Syndrome
Vesicoureteral reflux, Micropenis, Atrial septal defect, Patent ductus arteriosus OMIM:609625
Distal Monosomy 10Q
Atrial septal defect, Horseshoe kidney, Acute kidney injury, Patent ductus arteriosus, Enuresis, ... ORPHA:96148
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Oculofaciocardiodental Syndrome
Mitral valve prolapse, Abnormal cardiac septum morphology, Patent ductus arteriosus, Peripheral p... ORPHA:2712
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy, Congenital megaurete... ORPHA:369837
Chromosome 9P Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypospadias, Micropenis OMIM:158170
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Patent ductus arteriosus ORPHA:293939
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Ventricular septal defect, Patent ductus arteriosus, Aminoaciduria, Hydronephrosis, ... OMIM:214100
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery steno... ORPHA:96167
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Unilateral renal agenesis, Hydronephrosis OMIM:609757
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:1860
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:612582
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
3Q29 Microdeletion Syndrome
Horseshoe kidney, Hypospadias, Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Penoscrotal transposition, Pulmonic stenosis, Left ventricular hypertro... OMIM:619148
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Ureteral triplication, Patent ductus arteriosus, Hydronephrosis OMIM:104350
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy OMIM:616866
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Micropenis, Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Holt-Oram Syndrome
Secundum atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular sept... OMIM:142900
Gm1 Gangliosidosis
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Cherry red spot o... ORPHA:354
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Unilateral renal agenesis, Pulmonic stenosis, Hydronephrosis, Hypospadi... OMIM:616737
Fanconi Anemia, Complementation Group F
Atrial septal defect, Microphallus, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral re... OMIM:603467
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Microphthalmia, Syndromic 3
Hypospadias, Micropenis, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Abnormal cardiac septum morphology, Patent ductus arteriosus, Cardiomyopathy OMIM:217980
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Recurrent urinary trac... OMIM:610443
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, Polycystic kidney dys... OMIM:606232
C Syndrome
Patent ductus arteriosus, Renal cortical cysts, Ventricular septal defect OMIM:211750
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Carpenter Syndrome
Patent ductus arteriosus ORPHA:65759
Noonan Syndrome 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tri... OMIM:609942
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Abnorm... ORPHA:163956
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ureteral hypoplasia, Bladder trabeculation, Renal... OMIM:614080
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Patent ductus arte... OMIM:609192
Khan-Khan-Katsanis Syndrome
Abnormal heart morphology, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Hyd... OMIM:618460
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Pulmonary valve defects... ORPHA:1600
Pseudo-Torch Syndrome 2
Patent ductus arteriosus OMIM:617397
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus, Medullary nephrocalcinosis, Hypospadias, Micropenis ORPHA:363528
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:618223
Hemifacial Microsomia
Ventricular septal defect, Patent ductus arteriosus, Multicystic kidney dysplasia, Ureteropelvic ... OMIM:164210
Deafness-Craniofacial Syndrome
Patent ductus arteriosus ORPHA:3241
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:602782
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Mosaic Trisomy 16
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Abnormal heart morphology, Pat... ORPHA:1708
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:277600
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:261279
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Pulmonic ... OMIM:610759
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Interrupted aortic arch, Patent ductus arteriosus, M... ORPHA:17
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Patent ductus arteriosus, Arterial stenosis, Vascular dilatation ORPHA:2637
Syndromic Diarrhea
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Renal hypoplasia, Pat... ORPHA:84064
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosu... OMIM:300712
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agene... ORPHA:96121
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Anomalous origin of left pulmonary artery from ascending aort... ORPHA:141127
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Carotid artery dilatation, Atrial septal defect, Arterial tor... OMIM:610168
Lateral Meningocele Syndrome
Patent ductus arteriosus, Bicuspid aortic valve OMIM:130720
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery at... OMIM:616894
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Tricuspid valve prolapse ORPHA:276413
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Atrial septal defect, Patent ductus arteriosus, Hydronephrosis OMIM:300968
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus OMIM:618162
8P11.2 Deletion Syndrome
Mitral valve prolapse, Atrial septal defect, Patent ductus arteriosus, Hypoplasia of penis ORPHA:251066
Zimmermann-Laband Syndrome 1
Long penis, Patent ductus arteriosus, Aortic root aneurysm, Nephrolithiasis, Cardiomyopathy, Aort... OMIM:135500
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy, Patent ductus arteriosus ORPHA:1790
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Thoracic aortic aneury... OMIM:613834
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Abnormal heart morphology, Patent ductus arteriosus, Duplicated collecting syst... OMIM:227646
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Ventricular septal defect, Renal hypoplasia, Patent ductus arteriosus, Ne... OMIM:269860
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Anuria, Patent ductus arteriosus, T... OMIM:619351
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect ORPHA:79345
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agenesis, Aortic valve sten... ORPHA:464311
Fanconi Anemia
Abnormal renal morphology, Atrial septal defect, Abnormal carotid artery morphology, Hydroureter,... ORPHA:84
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Opitz Gbbb Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:2745
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary a... OMIM:617506
Knobloch Syndrome
Dextrocardia, Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter ORPHA:1571
Kniest-Like Dysplasia, Lethal
Atrial septal defect, Patent ductus arteriosus OMIM:245190
Focal Dermal Hypoplasia
Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Multicystic kidney dysplas... ORPHA:2092
Desmosterolosis
Renal hypoplasia/aplasia, Anomalous pulmonary venous return, Renal agenesis, Patent ductus arteri... ORPHA:35107
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosu... ORPHA:163979
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Abnormal renal collecting system morphology, Hydroureter, Hypertrophy of th... ORPHA:280633
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Patent ductus arteriosus, Hypospadias OMIM:617053
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic l... OMIM:301043
Oculoectodermal Syndrome
Atrial septal defect, Patent ductus arteriosus, Bladder exstrophy, Coarctation of aorta, Hypertro... OMIM:600268
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agenesis, Aortic valve sten... ORPHA:464306
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Aminoaciduria, Galactosuria, Organic aciduria, Abnormal cardiac septum ... ORPHA:85276
Ivic Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:147750
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Micropenis, Patent ductus arteriosus, Hypospadias OMIM:141750
De Barsy Syndrome
Prominent veins on trunk, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic... ORPHA:2962
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Vesicoureteral reflux, Hydronephrosis, Abnorma... ORPHA:250989
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Hypercalciuria, Renal dysplasia, Patent foramen ovale, Nephrocalcinosis OMIM:300990
Marshall-Smith Syndrome
Atrial septal defect, Death in childhood, Patent ductus arteriosus OMIM:602535
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture, Bladder diverticulum OMIM:614557
3Mc Syndrome 1
Hydronephrosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:257920
Opitz Gbbb Syndrome, Type Ii
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ure... OMIM:145410
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, As... OMIM:608328
Coffin-Siris Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Abnormal heart morphology, Pat... ORPHA:1465
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta OMIM:617088
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Patent ductus arteriosus, Unilateral renal agenesis, Ventricular septal defect OMIM:154400
Williams Syndrome
Abnormal carotid artery morphology, Proteinuria, Abnormal endocardium morphology, Patent ductus a... ORPHA:904
Distal Monosomy 12Q
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Ectopi... ORPHA:96149
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus ORPHA:2095
Aymé-Gripp Syndrome
Pericardial effusion, Patent ductus arteriosus, Pericarditis, Proteinuria ORPHA:1272
Vater/Vacterl Association
Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Ureteropelvic junction obstr... OMIM:192350
Feingold Syndrome
Patent ductus arteriosus ORPHA:1305
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Patent ductus arteriosus, Unil... OMIM:270400
Cerebrocostomandibular Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Rena... OMIM:117650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, Renal cyst, Patent fo... OMIM:616975
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:353281
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent fo... OMIM:617137
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Patent ductus arteriosus, Multicystic kidney dysplasia, Ventricular septal ... OMIM:300373
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:1051
Loeys-Dietz Syndrome 3
Arterial tortuosity, Atrial septal defect, Ventricular hypertrophy, Aortic tortuosity, Aortic ane... OMIM:613795
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale, Patent ductus arteriosus ORPHA:457395
22Q11.2 Deletion Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Multiple renal cysts, Ventricular se... ORPHA:567
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney OMIM:213980
Hunter-Macdonald Syndrome
Hypospadias, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve OMIM:611962
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Abnormal heart morphology, Patent ductus arteriosus, Dilatation of the sinus... ORPHA:284984
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect ORPHA:96191
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Patent ductus arteriosus, Renal cyst OMIM:616300
Acrofacial Dysostosis, Cincinnati Type
Patent ductus arteriosus OMIM:616462
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Death in infancy, Patent ductus arteriosus, Neon... OMIM:612289
Sener Syndrome
Micropenis, Patent ductus arteriosus OMIM:606156
Prader-Willi Syndrome Due To Translocation
Patent foramen ovale, Patent ductus arteriosus, Abnormality of the kidney, Abnormal heart morphology ORPHA:177907
Hajdu-Cheney Syndrome
Hypospadias, Abnormal cardiac septum morphology, Patent ductus arteriosus, Renal cyst OMIM:102500
9Q33.3Q34.11 Microdeletion Syndrome
Micropenis, Patent ductus arteriosus, Abnormality of the kidney ORPHA:495818
Cranioectodermal Dysplasia 2
Atrial septal defect, Patent ductus arteriosus, Renal cyst, Left ventricular hypertrophy, Patent ... OMIM:613610
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Patent ductus arteriosus, Vascular dilatation, Abnormality of the uret... OMIM:249000
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Ectopic kidney, Tetral... ORPHA:1519
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Patent ductus arteriosus OMIM:259100
Hajdu-Cheney Syndrome
Multiple renal cysts, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... ORPHA:955
Desmosterolosis
Total anomalous pulmonary venous return, Patent ductus arteriosus OMIM:602398
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, ... OMIM:139210
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Multicystic kidney dys... ORPHA:818
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Multicystic kidney dysplasia, Arteriovenous malformation, Displacement ... ORPHA:1556
Neu-Laxova Syndrome 1
Stillbirth, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Renal agen... OMIM:256520
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Patent ductus arteriosus, Unilateral renal agenesis, Hydronephrosis, H... ORPHA:487796
Zttk Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Poly... OMIM:617140
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Vesicoureteral reflux, Patent ductus arteriosus after birth at term ORPHA:529962
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Tricuspid valve prolapse, Ventricular septal... ORPHA:261337
Restrictive Dermopathy, Lethal
Atrial septal defect, Stillbirth, Patent ductus arteriosus, Hypospadias, Ureteral duplication OMIM:275210
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Horseshoe kidney, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus,... ORPHA:444077
Townes-Brocks Syndrome
Atrial septal defect, Multiple renal cysts, Renal hypoplasia, Urethral valve, Patent ductus arter... ORPHA:857
Juvenile Polyposis Of Infancy
Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology ORPHA:79076
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:353277
1P36 Deletion Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Re... ORPHA:1606
Charge Syndrome
Horseshoe kidney, Interrupted aortic arch, Abnormal aortic valve morphology, Patent ductus arteri... ORPHA:138
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:438213
Arboleda-Tham Syndrome
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:616268
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Atrial septal defect, Patent ductus arteriosus, Ventricular septal... ORPHA:3047
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arc... OMIM:300166
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Arterial dissection, Vascular dilatation, Aortic d... ORPHA:60030
Noonan Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Coa... OMIM:163950
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Persistent cloaca, Renal hypoplasia/aplasia, Patent ductus arteriosus ORPHA:1112
Turnpenny-Fry Syndrome
Mitral valve prolapse, Atrial septal defect, Patent ductus arteriosus, Tricuspid valve prolapse OMIM:618371
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Micropenis, Patent ductus arteriosus, Hypospadias ORPHA:2282
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the... ORPHA:466791
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Ureteral duplication, Patent ductus arteriosus, Multicystic k... ORPHA:709
Charge Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Renal hypoplasia, Patent ductu... OMIM:214800
Eisenmenger Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Aortopulmonary window... ORPHA:97214
Restrictive Dermopathy
Atrial septal defect, Patent ductus arteriosus, Dextrocardia, Hypospadias, Ureteral duplication, ... ORPHA:1662
Coffin-Siris Syndrome 1
Atrial septal defect, Ventricular septal defect, Hydroureter, Renal hypoplasia, Patent ductus art... OMIM:135900
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Enlarged kidney, Cardiomyopathy, Patent ductus arteriosus, Pulmonic st... OMIM:312870
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Dextrocardia, Micropenis,... OMIM:614976
Mowat-Wilson Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery slin... OMIM:235730
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Epispadias, Micropenis OMIM:615948
Treacher-Collins Syndrome
Patent ductus arteriosus, Hypoplasia of penis ORPHA:861
Chromosome 1P36 Deletion Syndrome
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Ventricular septal de... OMIM:607872
Feingold Syndrome 1
Patent ductus arteriosus OMIM:164280
Ctcf-Related Neurodevelopmental Disorder
Phimosis, Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta ORPHA:363611
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Horseshoe kidney, Long penis, Stillbirth, Ventricular septal defect, Patent... OMIM:268300
Sotos Syndrome
Abnormality of the kidney, Atrial septal defect, Renal agenesis, Ventricular septal defect, Abnor... ORPHA:821
Orofaciodigital Syndrome Type 14
Epispadias, Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, Complete atrioventricul... ORPHA:508488
Mowat-Wilson Syndrome
Abnormal heart morphology, Chordee, Pulmonary artery sling, Coarctation of aorta, Micropenis, Pat... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Patent ductus arteriosus, Vesicoureteral reflux, Pelvic kidney, Micropenis, Webbed penis... ORPHA:261552
Peters-Plus Syndrome
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Patent ductus arteriosus, Pulm... OMIM:261540
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Ventricular septal defect, Abnormality of the urinary system, Patent ductus... OMIM:180849
Pallister-Hall Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral renal agenesis, Patent ductus arterios... ORPHA:672
Partial Deletion Of The Short Arm Of Chromosome 7
Hypospadias, Patent ductus arteriosus after birth at term, Partial anomalous pulmonary venous return ORPHA:261911
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Vesicoureteral reflux, Patent ductus arteriosus, Hydronephrosis ORPHA:2363
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Patent ductus arteriosus after birth at term, Horseshoe kidney, Abnormal he... ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Patent ductus arteriosus, Renal dysplasia, Hydronephrosis, Cardiomyopathy ORPHA:480880
Pallister-Killian Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect, Patent ductus arteriosus, Renal dysp... OMIM:601803
Cohen-Gibson Syndrome
Patent ductus arteriosus OMIM:617561
Pachydermoperiostosis
ORPHA:2796
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
OMIM:614441
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
OMIM:167100

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.

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MGI Allele Allele Type Produced
Slco2a1em2(IMPC)Mhzh Indel causing a Frameshift Mutation Mice
Slco2a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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