Details of Disease

General Information of Disease (ID: DISDX9O0)

• Disease Name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
• Synonyms: MTCHRS; hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome; diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia; Mitchell-Riley syndrome; hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
• 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.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISDX9O0: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0017400
  MESH ID: C567570
  UMLS CUI: C2748662
  OMIM ID: 615710
  MedGen ID: 411637
  Orphanet ID: 293864

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RFX6	OT8H77DL	Strong	Autosomal recessive	[1]

References

• [1] Rfx6 directs islet formation and insulin production in mice and humans. Nature. 2010 Feb 11;463(7282):775-80. doi: 10.1038/nature08748.