Multiple endocrine neoplasia, type I

Preferred Label : Multiple endocrine neoplasia, type I;

Symbol : MEN1;

CISMeF acronym : MEN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Men I; Endocrine adenomatosis, multiple; Mea I; Wermer syndrome;

Included titles and symbols : Men1 somatic mutations;

Description : Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of parathyroids, pancreatic islets, duodenal endocrine cells, and the anterior pituitary, with 94% penetrance by age 50. Less commonly associated tumors include foregut carcinoids, lipomas, angiofibromas, thyroid adenomas, adrenocortical adenomas, angiomyolipomas, and spinal cord ependymomas. Except for gastrinomas, most of the tumors are nonmetastasizing, but many can create striking clinical effects because of the secretion of endocrine substances such as gastrin, insulin, parathyroid hormone, prolactin, growth hormone, glucagon, or adrenocorticotropic hormone (summary by Chandrasekharappa et al., 1997). - Genetic Heterogeneity of Multiple Endocrine Neoplasia Other forms of multiple endocrine neoplasia include MEN2A (171400) and MEN2B (162300), both of which are caused by mutation in the RET gene (164761), and MEN4 (610755), which is caused by mutation in the CDKN1B gene (600778).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the menin gene (MEN1, 131100.0001);

Neoplasia : Carcinoid tumors;

Laboratory abnormalities : Elevated ACTH; Abnormal secretin test; Elevated gastrin concentration; Hypercalcemia; Hypoglycemia; Elevated PTH (parathyroid hormone);

Prefixed ID : #131100;

Details

Origin ID

131100;

UMLS CUI

C0025267;

Automatic exact mappings (from CISMeF team)
- ELL wt Allele [NCIt concept]
- MEN1 Gene [NCIt concept]
- MEN1 gene [LOINC component]
- MEN1 wt Allele [NCIt concept]
- Menin [NCIt concept]
- Menogaril [NCIt concept]
- Multiple endocrine adenomatosis [MedDRA LLT]
- Multiple endocrine adenomatosis NOS [MedDRA LLT]
- Multiple endocrine neoplasia type II [PASCAL descriptor]
- Multiple endocrine neoplasia type III [PASCAL descriptor]
- men [MeSH concept]
- menin 1 [HGNC gene]
- menin 1 [ORDO Gene]
- multiple endocrine neoplasia [DO Concept]
- multiple endocrine neoplasia [MeSH Descriptor]
- multiple endocrine neoplasia [MeSH concept]
- multiple endocrine neoplasia type 2a [MeSH Descriptor]
Currated CISMeF NLP mapping
- MEA Type I [MedDRA LLT]
- MEN Type I [MedDRA LLT]
- Multiple Endocrine Neoplasia Type 1 [NCIt concept]
- Multiple endocrine adenomatosis Type I [MedDRA LLT]
- Multiple endocrine neoplasia Type 1 [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type I [MedDRA LLT]
- Multiple endocrine neoplasia [MEN] type I [ICD-9 code]
- Multiple endocrine neoplasia type 1 [ORDO Disease]
- Multiple endocrine neoplasia type 1 [ICD-11 More detail]
- Multiple endocrine neoplasia type I [PASCAL descriptor]
- Multiple endocrine neoplasia, type 1 (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia type 1 [Disease (Nov.)]
- multiple endocrine neoplasia type 1 [DO Concept]
- multiple endocrine neoplasia type 1 [MeSH Descriptor]
- multiple endocrine neoplasia type 1 [MeSH concept]
- multiple endocrine neoplasia, type 1 [SNOMED Notion]
DO Cross reference
- multiple endocrine neoplasia type 1 [DO Concept]
Genes related to phenotype
- Menin 1 [OMIM gene]
HPO term(s)
- Adenoma sebaceum [HPO term]
- Adrenocortical adenoma [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Carcinoid tumor [HPO term]
- Confetti-like hypopigmented macules [HPO term]
- Cushing syndrome [HPO term]
- Diarrhea [HPO term]
- Elevated circulating growth hormone concentration [HPO term]
- Esophagitis [HPO term]
- Glucagonoma [HPO term]
- Hypercalcemia [HPO term]
- Hypoglycemia [HPO term]
- Increased circulating cortisol level [HPO term]
- Increased circulating prolactin concentration [HPO term]
- Insulinoma [HPO term]
- Pancreatic islet cell adenoma [HPO term]
- Parathyroid adenoma [HPO term]
- Peptic ulcer [HPO term]
- Pituitary adenoma [HPO term]
- Pituitary prolactin cell adenoma [HPO term]
- Prolactinoma [HPO term]
- Subcutaneous lipoma [HPO term]
- Thyroid adenoma [HPO term]
- Zollinger-Ellison syndrome [HPO term]
NCIt concept(s)
- MEN1 Gene [NCIt concept]
- MEN1 wt Allele [NCIt concept]
- Menin [NCIt concept]
ORDO concept(s)
- Multiple endocrine neoplasia type 1 [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- MEA Type I [MedDRA LLT]
- MEN Type I [MedDRA LLT]
- Multiple Endocrine Neoplasia Type 1 [NCIt concept]
- Multiple endocrine adenomatosis Type I [MedDRA LLT]
- Multiple endocrine neoplasia Type 1 [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type I [MedDRA LLT]
- Multiple endocrine neoplasia [MEN] type I [ICD-9 code]
- Multiple endocrine neoplasia type 1 [ORDO Disease]
- Multiple endocrine neoplasia, type 1 (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia type 1 [MeSH Descriptor]
- multiple endocrine neoplasia type 1 [MeSH concept]
- multiple endocrine neoplasia type 1 [DO Concept]
- multiple endocrine neoplasia type 1 [Disease (Nov.)]
- multiple endocrine neoplasia, type 1 [SNOMED Notion]
Validated automatic mappings to NTBT
- Multiple Endocrine Neoplasia [NCIt concept]
- multiple endocrine neoplasia [Disease (Nov.)]

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