Mitchell-riley syndrome

Preferred Label : Mitchell-riley syndrome;

Symbol : MTCHRS;

CISMeF acronym : MTCHRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the regulatory factor X, 6 gene (RFX6, 612659.0001);

Laboratory abnormalities : Hyperbilirubinemia; Low or undetectable insulin; Low or undetectable C-peptide; Hyperglycemia;

Prefixed ID : #615710;

Détails

Origin ID

615710;

UMLS CUI

C2748662;

Automatic exact mappings (from CISMeF team)
- Martinez-Frias syndrome [MeSH Supplementary Concept]
CISMeF manual mappings
- Mitchell-Riley syndrome [MeSH concept]
- Mitchell-Riley syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Regulatory factor X, 6 [OMIM gene]
HPO term(s)
- Absent gallbladder [HPO term]
- Acholic stools [HPO term]
- Annular pancreas [HPO term]
- Anteriorly placed anus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biliary atresia [HPO term]
- Cholestasis [HPO term]
- Diarrhea [HPO term]
- Duodenal atresia [HPO term]
- Hyperbilirubinemia [HPO term]
- Hyperglycemia [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Jejunal atresia [HPO term]
- Malabsorption [HPO term]
- Pancreatic hypoplasia [HPO term]
ORDO concept(s)
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome [ORDO Disease]
- Mitchell-Riley syndrome [MeSH concept]
- Mitchell-Riley syndrome [MeSH Supplementary Concept]

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