Details of Disease

General Information of Disease (ID: DISR6WPA)

• Disease Name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
• Synonyms: HDCA; pancreatic agenesis and congenital heart defects; pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease; heart defects, congenital, and other congenital anomalies; Yorifuji Okuno syndrome; congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease; pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Yorifuji-Okuno syndrome
• Definition: A rare, syndromic diabetes mellitus 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).
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISR6WPA: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010802
  UMLS CUI: C4012454
  OMIM ID: 600001
  MedGen ID: 860891
  Orphanet ID: 2255

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GATA4	TT1VDN2	Strong	Autosomal dominant	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATA4	OTQHWAZG	Strong	Autosomal dominant	[1]
GATA6	OTO2BC0F	Definitive	Autosomal dominant	[2]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035.