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Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome(MTCHRS)

MedGen UID:
411637
Concept ID:
C2748662
Disease or Syndrome
Synonyms: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA; Mitchell-Riley syndrome
Modes of inheritance:
 
RFX6 (6q22.1)
 
Monarch Initiative: MONDO:0017400
OMIM®: 615710
Orphanet: ORPHA293864

Definition

Mitchell-Riley syndrome (MTCHRS) is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (601346), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (Smith et al., 2010). [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

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