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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.
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:38 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Diabetes mellitus; and very common findings: Absent gallbladder and Duodenal atresia. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 7 | Diarrhea, Cholestasis, Ascites |
Hormones | 1 | Diabetes mellitus |
Lab test results | 1 | Hyperbilirubinemia |
Growth and development | 1 | Intrauterine growth retardation |
RFX6 function has not been fully characterized.
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome is associated with mutations in the RFX6 gene on chromosome 6.
Genetic testing for RFX6 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 2 very common features, 4 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome.
7 publications have been identified in PubMed for hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome. Research spans Review / Meta-Analysis (43%), Basic Science / Preclinical (43%), and Case Report / Case Series (14%).
Bate TSR (2026). [PMID: 41716817](https://pubmed.ncbi.nlm.nih.gov/41716817/). *Diabetol Int*. [Review / Meta-Analysis]
Mohammed AK (2026). [PMID: 42214606](https://pubmed.ncbi.nlm.nih.gov/42214606/). *Life Sci*. [Review / Meta-Analysis]
Sá B (2025). [PMID: 40445129](https://pubmed.ncbi.nlm.nih.gov/40445129/). *Clin Dysmorphol*. [Case Report / Case Series]
Ni X (2025). [PMID: 41422049](https://pubmed.ncbi.nlm.nih.gov/41422049/). *Cancer Cell Int*. [Review / Meta-Analysis]
Zhao J (2024). [PMID: 39003281](https://pubmed.ncbi.nlm.nih.gov/39003281/). *Nat Commun*. [Basic Science / Preclinical]
Sanchez JG (2024). [PMID: 38587174](https://pubmed.ncbi.nlm.nih.gov/38587174/). *Development*. [Basic Science / Preclinical]
Ibrahim H (2024). [PMID: 38743124](https://pubmed.ncbi.nlm.nih.gov/38743124/). *Diabetologia*. [Basic Science / Preclinical]