甲状旁腺癌
Parathyroid carcinoma
定义 英文原文（暂无中文）
A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDC73 | cell division cycle 73 | Disease-causing somatic mutation(s) in |
临床表型 36
必现 100%3
- 高钙血症 HP:0003072
- 甲状旁腺癌 HP:0006780
- 原发性甲状旁腺功能亢进症 HP:0008200
极常见 99–80%4
- 甲状旁腺形态异常 HP:0011766
- 血甲状旁腺激素水平升高 HP:0003165
- 高钙尿症 HP:0002150
- 低磷血症 HP:0002148
常见 79–30%11
- 吞咽困难 HP:0002015
- 疲乏 HP:0012378
- 纤维瘤 HP:0010614
- 声音嘶哑 HP:0001609
- 肾钙质沉着症 HP:0000121
- 肾结石 HP:0000787
- 骨质疏松 HP:0000939
- 烦渴 HP:0001959
- QT间期缩短 HP:0012232
- 子宫肌瘤 HP:0000131
- 体重减轻 HP:0001824
偶见 29–5%13
- 骨痛 HP:0002653
- 软骨钙质沉着症 HP:0000934
- 便秘 HP:0002019
- 阵发性腹痛 HP:0002574
- 头痛 HP:0002315
- 下颌疼痛 HP:0200025
- 肌无力 HP:0001324
- 恶心和呕吐 HP:0002017
- 胰腺炎 HP:0001733
- 消化性溃疡 HP:0004398
- 肾囊肿 HP:0000107
- 肾错构瘤 HP:0008696
- 肾功能不全 HP:0000083
罕见 <4–1%5
- 脂肪瘤 HP:0012032
- 肾母细胞瘤 HP:0002667
- 胰腺腺癌 HP:0006725
- 睾丸肿瘤 HP:0010788
- 甲状腺癌 HP:0002890
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）