Multiple Endocrine Neoplasia Type 5

Preferred Label : Multiple Endocrine Neoplasia Type 5;

NCIt synonyms : MAX-Associated Tumor; MEN5; MEN Type 5;

NCIt definition : An inherited neoplastic syndrome caused by mutations in the MYC-associated factor X (MAX) gene. It is associated with the development of paragangliomas/pheochromocytomas, pituitary neuroendocrine tumors, and parathyroid adenomas. Renal cell carcinomas, squamous cell carcinomas, breast carcinomas, lung carcinomas, and endometrial carcinomas have also been reported.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1793094;

Details

Origin ID

C188257;

UMLS CUI

C5706232;

Disease excludes abnormal cell
- Neoplastic Smooth Muscle Cell [NCIt concept]
Disease excludes normal cell origin
- Thyroid Gland Follicular Cell [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Endocrine Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
disease_has_finding
- Endocrine Differentiation [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Multifocal Lesion [NCIt concept]
disease_has_molecular_abnormality
- MAX Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_mapped_to_gene
- MAX Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Endometrial Carcinoma [NCIt concept]
- Lung Carcinoma [NCIt concept]
- Paraganglioma [NCIt concept]
- Parathyroid Gland Adenoma [NCIt concept]
- Pituitary Neuroendocrine Tumor [NCIt concept]
- Renal Cell Carcinoma [NCIt concept]
- Squamous Cell Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- MAX Gene [NCIt concept]
- MAX wt Allele [NCIt concept]

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