着色性干皮病
Xeroderma pigmentosum
ORPHA:910疾病
定义 英文原文（暂无中文）
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（United States）
相关基因 7
| 基因 | 名称 | 关联类型 |
|---|---|---|
| XPA | XPA, DNA damage recognition and repair factor | Disease-causing germline mutation(s) in |
| XPC | XPC complex subunit, DNA damage recognition and repair factor | Disease-causing germline mutation(s) in |
| DDB2 | damage specific DNA binding protein 2 | Disease-causing germline mutation(s) in |
| ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in |
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | Disease-causing germline mutation(s) in |
| ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in |
| ERCC5 | ERCC excision repair 5, endonuclease | Disease-causing germline mutation(s) in |
临床表型 59
极常见 99–80%20
- 牙列异常 HP:0000164
- 关节疼痛 HP:0002829
- 认知功能损害 HP:0100543
- 结膜毛细血管扩张 HP:0000524
- 光感性皮肤 HP:0000992
- 发育倒退 HP:0002376
- 干性皮肤 HP:0000958
- 脑电图异常 HP:0002353
- 发育迟滞 HP:0001508
- 疲乏 HP:0012378
- 发热 HP:0001945
- 雀斑 HP:0001480
- 性腺功能减退症 HP:0000135
- 进行性智力障碍 HP:0006887
- 视神经萎缩 HP:0000648
- 皮肤异色症 HP:0001029
- 毛细血管扩张 HP:0001009
- 皮肤毛细血管扩张 HP:0100585
- 皮肤增厚 HP:0001072
- 皮肤变薄 HP:0000963
常见 79–30%13
- 白内障 HP:0000518
- 隐睾 HP:0000028
- 皮肤萎缩 HP:0004334
- 红斑 HP:0010783
- 角化过度 HP:0000962
- 色素沉着斑 HP:0001034
- 皮肤色素减退斑 HP:0001053
- 角膜炎 HP:0000491
- 斑疹 HP:0012733
- 黑色素瘤 HP:0002861
- 乳头状瘤 HP:0012740
- 感音神经性听力受损 HP:0000407
- 斜视 HP:0000486
偶见 29–5%26
- 锥体外系功能障碍 HP:0002071
- 脱发 HP:0001596
- 氨基酸尿 HP:0003355
- 睑缘粘连 HP:0009755
- 共济失调 HP:0001251
- 眼睑炎 HP:0000498
- 大脑皮层萎缩 HP:0002120
- 颅面骨骨质增生 HP:0004493
- 睾丸体积过小 HP:0008734
- 骨成熟延迟 HP:0002750
- 睑外翻 HP:0000656
- 眼睑内翻 HP:0000621
- 鼻翼扁平 HP:0010649
- 听力受损 HP:0000365
- 黑素细胞痣 HP:0000995
- 小头畸形 HP:0000252
- 肿瘤 HP:0002664
- 眼肿瘤 HP:0100012
- 角膜基质的混浊 HP:0007759
- 周围神经病 HP:0009830
- 畏光 HP:0000613
- 翼状胬肉 HP:0001059
- 腱反射减低 HP:0001315
- 癫痫发作 HP:0001250
- 身材矮小 HP:0004322
- 痉挛 HP:0001257
外部标识与链接
OrphanetOMIM:278700OMIM:278720OMIM:278730MONDO:0019600GARD:7910ICD-10 Q82.1ICD-11 LD27.1ClinicalTrials.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）