Heart Defects, Congenital, and Other Congenital Anomalies (HDCA)

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Disease Ontology 12 DOID:0111733 OMIM® 57 600001 KEGG 36 H02198 MeSH 44 D003920 D006330 ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 72 C2931296 Orphanet 58 ORPHA2255 MedGen 41 C1838780 C4012454 SNOMED-CT via HPO 68 109428005 128613002 17190001 18389004 190268003 199612005 204296002 204317008 204470001 205294008 217710005 218728005 22033007 224958001 228156007 230145002 237598005 246545002 247578003 253549006 253732001 253789002 26146002 263681008 267036007 267258002 271611007 271825005 276610007 29980002 30288003 313307000 36440009 37992001 396232000 396347007 409675001 432788009 45154002 47367009 48641006 49496001 56786000 58140002 59566000 68591005 72535009 73211009 7368005 77480004 78164000 80394007 82821008 83330001 84757009 86299006 86507001 91138005 91175000 95441000 more UMLS 71 C2931296 C3888085 C4012454

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2255DefinitionPancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).EpidemiologyIt has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth).Genetic counselingThe syndrome appears to be inherited as an autosomal dominant trait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Heart Defects, Congenital, and Other Congenital Anomalies, also known as pancreatic agenesis and congenital heart defects, is related to diabetes mellitus, 6q24-related transient neonatal and diaphragmatic hernia, congenital. An important gene associated with Heart Defects, Congenital, and Other Congenital Anomalies is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include heart, pancreas and ovary, and related phenotypes are exocrine pancreatic insufficiency and ventricular septal defect

Disease Ontology : ¹² A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has material basis in heterozygous mutation in GATA6 on chromosome 18q11.2.

KEGG : ³⁶ Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 has been linked to this disease. GATA6 is expressed during the embryogenesis of a variety of endodermally derived organs, including the heart, pancreas, ovary, lung, and liver.

UniProtKB/Swiss-Prot : ⁷³ Pancreatic agenesis and congenital heart defects: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.

More information from OMIM: 600001

Clinical features from OMIM®:

600001 (Updated 05-Mar-2021)

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