MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:5421
Name:Heart Septal Defects, Ventricular
Definition:Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Alternative IDs:DO:DOID:1657|OMIM:614429|OMIM:614431|OMIM:614432
ParentIDs:MESH:D006343
TreeNumbers:C14.240.400.560.540 |C14.280.400.560.540 |C16.131.240.400.560.540
Synonyms:Defect, Intraventricular Septal |Defects, Intraventricular Septal |Defect, Ventricular Septal |Intraventricular Septal Defect |Intraventricular Septal Defects |Septal Defect, Intraventricular |Septal Defects, Intraventricular |Septal Defects, Ventricular |Septal
Slim Mappings:Cardiovascular disease|Congenital abnormality
Reference: MedGen: D006345
MeSH: D006345
OMIM: 614429;
MSeqDR LSDB:  
Genes: CITED2; GATA4; NKX2-5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001631Atrial septal defectHP:0040283
3 HP:0001642Pulmonic stenosisHP:0040283
4 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002052.5(GATA4):c.263G>T (p.Gly88Val)2626GATA4Uncertain significancers980402710RCV000765985; RCV000530941; RCV000765985; RCV000765985; RCV000765985; RCV000765985; NMedGen:C1842778,OMIM:607941; MedGen:C3280781,OMIM:614430; MedGen:C3280781,OMIM:614430; MedGen:C3809858,OMIM:615542; Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500, Orphanet:ORPHA3303,SNOMED CT:86299006; MedGen:C3280777,OMIM:614429811566084115660848:g.11566084G>T-
MSeqDR Portal