斑驳病
Piebaldism
ORPHA:2884疾病
定义 英文原文（暂无中文）
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SNAI2 | snail family transcriptional repressor 2 | Disease-causing germline mutation(s) in |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | Disease-causing germline mutation(s) (loss of function) in |
临床表型 19
极常见 99–80%3
- 毛发色素减退 HP:0005599
- 皮肤斑驳性色素脱失 HP:0007544
- 额发变白 HP:0002211
常见 79–30%4
- 皮肤色素减退斑 HP:0001053
- 斑疹 HP:0012733
- 白眉 HP:0002226
- 白睫 HP:0002227
偶见 29–5%12
- 颅骨形态异常 HP:0002683
- 无神经节性巨结肠 HP:0002251
- 共济失调 HP:0001251
- 听力受损 HP:0000365
- 虹膜异色 HP:0001100
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 长人中 HP:0000343
- 小头畸形 HP:0000252
- 皮肤肿瘤 HP:0008069
- 连眉 HP:0000664
- 宽鼻梁 HP:0000431
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）