掌跖角化病- 聋综合征
Palmoplantar keratoderma-deafness syndrome
定义 英文原文（暂无中文）
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.
别名
表皮松解性角化过度症-听力损失综合征
基本事实
- 遗传方式
- 常染色体显性、线粒体遗传
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GJB2 | gap junction protein beta 2 | Disease-causing germline mutation(s) in |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | Disease-causing germline mutation(s) in |
临床表型 3
极常见 99–80%3
- 角化过度 HP:0000962
- 掌跖角化症 HP:0000982
- 感音神经性听力受损 HP:0000407
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）