Insulinomatosis and diabetes mellitus

Preferred Label : Insulinomatosis and diabetes mellitus;

Symbol : INSDM;

CISMeF acronym : INSDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Islet cell adenomatosis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MAF bZIP transcription factor A gene (MAFA, 610303.0001);

Neoplasia : Multifocal well-differentiated beta-cell neuroendocrine tumors;

Laboratory abnormalities : Low serum glucose with inappropriately high insulin levels (in some patients); Elevated serum glucose (in some patients);

Prefixed ID : #147630;

Détails

Origin ID

147630;

UMLS CUI

C1578917;

Automatic exact mappings (from CISMeF team)
- Adenoma of pancreas [ORDO Disease]
- Islet cell adenoma (morphologic abnormality) [SNOMED CT concept]
- Islet cell adenomatosis [ICD-11 Extension code]
Currated CISMeF NLP mapping
- Islet cell adenomatosis (disorder) [SNOMED CT concept]
- Nesidioblastosis [NCIt concept]
- islet cell adenomatosis [MeSH concept]
- islet cell adenomatosis [MeSH Supplementary Concept]
Genes related to phenotype
- Maf bzip transcription factor a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Developmental glaucoma [HPO term]
- Diabetes mellitus [HPO term]
- Glucose intolerance [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Impaired glucose tolerance [HPO term]
- Multiple pancreatic beta-cell adenomas [HPO term]
- obsolete Glucose intolerance [HPO term]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Islet cell adenomatosis (disorder) [SNOMED CT concept]
- islet cell adenomatosis [MeSH Supplementary Concept]
- islet cell adenomatosis [MeSH concept]

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