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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Familial medullary thyroid carcinoma | |
| Synonyms |
Familial MTC |
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| Definitions |
A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. In rare cases, the tumor can also cause Cushing syndrome due to ectopic corticotropin production. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_99361 |
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| alternative_term |
Familial MTC
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|
| definition |
A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. In rare cases, the tumor can also cause Cushing syndrome due to ectopic corticotropin production.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99361 |
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| hasDbXref |
UMLS:C1833921 MedDRA:10073153 MeSH:C536911 OMIM:155240 ICD-10:C73
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| label |
Familial medullary thyroid carcinoma
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| notation |
ORPHA:99361
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_99361
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| prefLabel |
Familial medullary thyroid carcinoma
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| treeView | ||
| subClassOf |
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