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GTR Home > Conditions/Phenotypes > Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

Synonyms
DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA; Mitchell-Riley syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mitchell-Riley syndrome 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]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MTCHRS, MTFS, RFXDC1, dJ955L16.1, RFX6
    Summary: regulatory factor X6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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