pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Findings
No curated finding names pancreatic hypoplasia-diabetes-congenital heart disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0010802), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
47 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrial septal defectHPOHP:0001631
- 6 of 15 reported patients · Antenatal onset
- Very frequent (80% to 99% of cases)
- Exocrine pancreatic insufficiencyHPOHP:0001738
- Very frequent (80% to 99% of cases)
- Neonatal insulin-dependent diabetes mellitusHPOHP:0000857
- Very frequent (80% to 99% of cases)
- Patent foramen ovaleHPOHP:0001655
- 2 of 15 reported patients · Neonatal onset
- Very frequent (80% to 99% of cases)
- Ventricular septal defectHPOHP:0001629
- 5 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
Show the remaining 35
- Pancreatic aplasiaHPOHP:0100801
- Frequent (30% to 79% of cases)
- Pancreatic hypoplasiaHPOHP:0002594
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 7 of 15 reported patients
- Congenital hypothyroidismHPOHP:0000851
- Occasional (5% to 29% of cases)
- Double outlet left ventricleHPOHP:0011581
- 1 of 15 reported patients · Antenatal onset
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GATA6HGNC:4174
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- GATA4HGNC:4173
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Also called
- Yorifuji-Okuno syndrome