家族性黑素瘤
Familial melanoma
ORPHA:618疾病
定义 英文原文（暂无中文）
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family.
基本事实
- 遗传方式
- 常染色体显性、多基因/多因素
- 发病年龄
- 成年期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 11
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDK4 | cyclin dependent kinase 4 | Major susceptibility factor in |
| CDKN2A | cyclin dependent kinase inhibitor 2A | Major susceptibility factor in |
| MITF | melanocyte inducing transcription factor | Major susceptibility factor in |
| TERT | telomerase reverse transcriptase | Major susceptibility factor in |
| MC1R | melanocortin 1 receptor | Major susceptibility factor in |
| BAP1 | BRCA1 associated deubiquitinase 1 | Major susceptibility factor in |
| CDKN2B | cyclin dependent kinase inhibitor 2B | Candidate gene tested in |
| MGMT | O-6-methylguanine-DNA methyltransferase | Major susceptibility factor in |
| POT1 | protection of telomeres 1 | Major susceptibility factor in |
| ACD | ACD shelterin complex subunit and telomerase recruitment factor | Major susceptibility factor in |
| TERF2IP | TERF2 interacting protein | Major susceptibility factor in |
临床表型 11
极常见 99–80%2
- 黑色素瘤 HP:0002861
- 色素痣 HP:0003764
常见 79–30%4
- 毛发形态异常 HP:0001595
- 淋巴系统异常 HP:0100763
- 干性皮肤 HP:0000958
- 雀斑 HP:0001480
偶见 29–5%5
- 锥体外系功能障碍 HP:0002071
- 乳腺肿瘤 HP:0100013
- 胰腺肿瘤 HP:0002894
- 胃新生物 HP:0006753
- 视网膜病变 HP:0000488
外部标识与链接
OrphanetOMIM:155600OMIM:155601OMIM:155700MONDO:0018961GARD:3460ICD-10 C43.0、C43.1、C43.2、C43.3ICD-11 QC61.YClinicalTrials.gov 检索
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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）