KEGG DISEASE: Pancreatic agenesis and congenital heart disease

KEGG

DISEASE: Pancreatic agenesis and congenital heart disease

Entry

H02198                      Disease

Name

Pancreatic agenesis and congenital heart disease;
Pancreatic hypoplasia diabetes heart disease;
Yorifuji-Okuno syndrome

Description

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 have 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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02198  Pancreatic agenesis and congenital heart disease

Gene

GATA6 [HSA:2627] [KO:K17897]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, Ferrer J, Hattersley AT, Ellard S

Title

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Journal

Nat Genet 44:20-22 (2011)
DOI:10.1038/ng.1035

Reference

Authors

Yorifuji T, Kawakita R, Hosokawa Y, Fujimaru R, Yamaguchi E, Tamagawa N

Title

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.

Journal

J Med Genet 49:642-3 (2012)
DOI:10.1136/jmedgenet-2012-101161

LinkDB

» Japanese version

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