Conditions / Syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
info · Syndrome
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.
Signs and symptoms
- Congenital diaphragmatic hernia
- Glycosuria
- Hyperglycemia
- Diabetes mellitus
- Failure to thrive
- Transposition of the great arteries
- Patent ductus arteriosus
- Pulmonic stenosis
- Pancreatic hypoplasia
- Hypoplastic tricuspid valve
Also known as: HDCA; PACHD; Yorifuji-Okuno syndrome; congenital heart defects and other congenital anomalies; congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease