Thyroid carcinoma, familial medullary

Preferred Label : Thyroid carcinoma, familial medullary;

Symbol : MTC;

CISMeF acronym : FMTC; MTC; MTC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FMTC; MTC1;

Description : Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see 171400)/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see 188550.;

Inheritance : Autosomal dominant;

Prefixed ID : #155240;

Details

Origin ID

155240;

UMLS CUI

C1833921;

Automatic exact mappings (from CISMeF team)
- NTRK1 wt Allele [NCIt concept]
- Oncogene RET [NCIt concept]
- RET wt Allele [NCIt concept]
- neurotrophic receptor tyrosine kinase 1 [ORDO Gene]
- neurotrophic receptor tyrosine kinase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Familial medullary thyroid cancer [MedDRA Preferred Term]
- Familial medullary thyroid carcinoma [ORDO Disease]
- Hereditary Thyroid Gland Medullary Carcinoma [NCIt concept]
- Medullary thyroid cancer [MedDRA Preferred Term]
- Medullary thyroid carcinoma [ORDO Disease]
- Medullary thyroid carcinoma [HPO term]
- Medullary thyroid carcinoma (disorder) [SNOMED CT concept]
- Thyroid Gland Medullary Carcinoma [NCIt concept]
- familial medullary thyroid carcinoma [DO Concept]
- familial medullary thyroid carcinoma [Disease (Nov.)]
- familial medullary thyroid carcinoma [MeSH concept]
- familial medullary thyroid carcinoma [MeSH Supplementary Concept]
- thyroid cancer, medullary [MeSH Supplementary Concept]
- thyroid cancer, medullary [MeSH concept]
DO Cross reference
- familial medullary thyroid carcinoma [DO Concept]
False automatic mappings
- Magnetic-Targeted Carrier [NCIt concept]
- Medicine, Chinese Traditional [DeCS]
Genes related to phenotype
- Ret protooncogene [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Medullary thyroid carcinoma [HPO term]
ORDO concept(s)
- Familial medullary thyroid carcinoma [ORDO Disease]
- Multiple endocrine neoplasia type 2 [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Familial medullary thyroid cancer [MedDRA Preferred Term]
- Familial medullary thyroid carcinoma [ORDO Disease]
- Hereditary Thyroid Gland Medullary Carcinoma [NCIt concept]
- familial medullary thyroid carcinoma [MeSH Supplementary Concept]
- familial medullary thyroid carcinoma [MeSH concept]
- familial medullary thyroid carcinoma [DO Concept]
- familial medullary thyroid carcinoma [Disease (Nov.)]

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