hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Findings
No curated finding names hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.
Definition from the Mondo Disease Ontology (MONDO:0017400), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Diabetes mellitusHPOHP:0000819
- 10 of 10 reported patients
- Duodenal atresiaHPOHP:0002247
- 9 of 10 reported patients
- Absent gallbladderHPOHP:0011467
- 8 of 10 reported patients
- CholestasisHPOHP:0001396
- 7 of 10 reported patients
- Intestinal malrotationHPOHP:0002566
- 5 of 10 reported patients
- Annular pancreasHPOHP:0001734
Genes
1 gene
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.
- RFX6HGNC:21478
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- Also called
- Mitchell-Riley syndrome