Multiple endocrine neoplasia, type iv

Preferred Label : Multiple endocrine neoplasia, type iv;

Symbol : MEN4;

CISMeF acronym : MEN4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase inhibitor-1B gene (CDKN1B, 600778.0001);

Neoplasia : Neuroendocrine cervical carcinoma; Pancreatic endocrine neoplasia; Papillary thyroid cancer;

Prefixed ID : #610755;

Détails

Origin ID

610755;

UMLS CUI

C1970712;

Automatic exact mappings (from CISMeF team)
- CDKN1B wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Multiple Endocrine Neoplasia Type 4 [NCIt concept]
- Multiple endocrine neoplasia type 4 [ICD-11 More detail]
- Multiple endocrine neoplasia type 4 [ORDO Disease]
- Multiple endocrine neoplasia type 4 (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia type 4 [DO Concept]
- multiple endocrine neoplasia, type IV [MeSH concept]
- multiple endocrine neoplasia, type IV [MeSH Supplementary Concept]
DO Cross reference
- multiple endocrine neoplasia type 4 [DO Concept]
Genes related to phenotype
- Cyclin-dependent kinase inhibitor 1b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Carcinoid tumor [HPO term]
- Carcinoma [HPO term]
- Elevated circulating growth hormone concentration [HPO term]
- Hashimoto thyroiditis [HPO term]
- Hyperparathyroidism [HPO term]
- Hypothyroidism [HPO term]
- Pancreatic endocrine tumor [HPO term]
- Parathyroid adenoma [HPO term]
- Pituitary adenoma [HPO term]
- Primary hyperparathyroidism [HPO term]
- Renal angiomyolipoma [HPO term]
ORDO concept(s)
- Multiple endocrine neoplasia type 4 [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple Endocrine Neoplasia Type 4 [NCIt concept]
- Multiple endocrine neoplasia type 4 [ORDO Disease]
- Multiple endocrine neoplasia type 4 (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia, type IV [MeSH Supplementary Concept]
- multiple endocrine neoplasia, type IV [MeSH concept]

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