MAFA Related Familial Insulinomatosis

Preferred Label : MAFA Related Familial Insulinomatosis;

NCIt synonyms : Familial Insulinomatosis; MAFA-Related Familial Insulinomatosis;

NCIt definition : An autosomal dominant neoplastic syndrome caused by MAFA (MAF bZIP Transcription Factor A) gene mutations. It is characterized by the development of multiple insulin secreting pancreatic neuroendocrine tumors.;

NCI Metathesaurus CUI : CL1793097;

Details

Origin ID

C188259;

UMLS CUI

C5707685;

Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_associated_disease
- Pancreatic Insulinoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- MAFA Gene Mutation [NCIt concept]
disease_mapped_to_gene
- MAFA Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- MAFA Gene [NCIt concept]
- MAFA wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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