家族性甲状腺髓样癌
Isolated familial medullary thyroid carcinoma
ORPHA:99361疾病
定义 英文原文（暂无中文）
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.
别名
家族性MTC
基本事实
- 遗传方式
- 常染色体显性
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RET | ret proto-oncogene | Disease-causing germline mutation(s) in |
| NTRK1 | neurotrophic receptor tyrosine kinase 1 | Disease-causing germline mutation(s) in |
| ESR2 | estrogen receptor 2 | Disease-causing germline mutation(s) (loss of function) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）