Heart defects, congenital, and other congenital anomalies

Preferred Label : Heart defects, congenital, and other congenital anomalies;

Symbol : HDCA;

CISMeF acronym : HDCA; PACHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pancreatic agenesis and congenital heart defects; Pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease; PACHD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-6 gene (GATA6, 601656.0006);

Prefixed ID : #600001;

Details

Origin ID

600001;

UMLS CUI

C4012454;

Automatic exact mappings (from CISMeF team)
- pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease [MeSH concept]
- pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease [MeSH Supplementary Concept]
- pancreatic hypoplasia-diabetes-congenital heart disease syndrome [DO Concept]
Currated CISMeF NLP mapping
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [ORDO Disease]
- yorifuji okuno syndrome [MeSH Supplementary Concept]
DO Cross reference
- pancreatic hypoplasia-diabetes-congenital heart disease syndrome [DO Concept]
Genes related to phenotype
- Gata-binding protein 6 [OMIM gene]
HPO term(s)
- Absent gallbladder [HPO term]
- Aplasia of the left hemidiaphragm [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biliary atresia [HPO term]
- Cervical ribs [HPO term]
- Colon perforation [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Diabetes mellitus [HPO term]
- Double outlet left ventricle [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Glycosuria [HPO term]
- Hyperglycemia [HPO term]
- Hypoplastic tricuspid valve [HPO term]
- Inguinal hernia [HPO term]
- Interrupted aortic arch [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Microcolon [HPO term]
- Pancreatic hypoplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Perimembranous ventricular septal defect [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonic stenosis [HPO term]
- Seizure [HPO term]
- Single umbilical artery [HPO term]
- Tetralogy of Fallot [HPO term]
- Total absence of the pericardium [HPO term]
- Transposition of the great arteries [HPO term]
- Truncus arteriosus [HPO term]
- Umbilical hernia [HPO term]
- Ureteral duplication [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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