Preferred Label : Multiple Endocrine Neoplasia Type 1;
NCIt synonyms : Multiple Endocrine Neoplasia, Type I; MEA Type 1; Multiple Endocrine Adenomatosis, Type I; MEN 1; Multiple Endocrine Adenomatosis Type 1; Wermer's Syndrome; MEN Type I; Multiple Endocrine Adenomatosis Type I; MEA Type I; MEN Type 1; Multiple Endocrine Neoplasia Type I;
NCIt related terms : Wermer syndrome; Multiple Endocrine Adenomatosis; MEN1 syndrome; multiple endocrine neoplasia type 1 syndrome; Multiple endocrine neoplasia [MEN] type I;
NCIt definition : Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1.
Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary
gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.;
Alternative definition : NICHD: Multiple endocrine neoplasia caused by inactivating mutation(s) of the tumor
suppressor gene MEN1, encoding the menin protein, a component of the histone methyltransferase
complex. The condition is characterized by hyperfunctioning adenomas of the parathyroid
glands, adrenal glands, pituitary gland, and pancreatic endocrine cells (most commonly
gastrinomas and insulinomas); thymic and bronchial carcinoid tumors also may develop.; NCI-GLOSS: A rare, inherited disorder that affects the endocrine glands and can cause
tumors in the parathyroid and pituitary glands and the pancreas. These tumors are
usually benign (not cancer). They cause the glands to secrete high levels of hormones,
which can lead to other medical problems, such as kidney stones, fertility problems,
and severe ulcers. In some cases, tumors inside the pancreas can become malignant
(cancer).;
Neoplastic status : Undetermined;
Codes from synonyms : CDR0000270862; CDR0000270861; CDR0000270864; E31.21;
Origin ID : C3225;
UMLS CUI : C0025267;
- Currated CISMeF NLP mapping
- DO Cross reference
- Disease excludes abnormal cell
- Disease excludes normal cell origin
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
- associated_with_malfunction_of_gene_product
- concept_is_in_subset
- disease_has_abnormal_cell
- disease_has_finding
- disease_has_molecular_abnormality
- disease_has_normal_cell_origin
- disease_has_normal_tissue_origin
- disease_mapped_to_gene
- disease_may_have_associated_disease
- may_be_associated_disease_of_disease
- pathogenesis_of_disease_involves_gene
- related_to_genetic_biomarker