皮肤松弛症
Cutis laxa
ORPHA:209疾病组
定义 英文原文（暂无中文）
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用、X 连锁隐性
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 14来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ALDH18A1 | aldehyde dehydrogenase 18 family member A1 | ORPHA:35664 |
| ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | ORPHA:357074 |
| ATP6V1A | ATPase H+ transporting V1 subunit A | ORPHA:357074 |
| ATP6V1E1 | ATPase H+ transporting V1 subunit E1 | ORPHA:357074 |
| ATP7A | ATPase copper transporting alpha | ORPHA:198 |
| EFEMP2 | EGF-like fibulin extracellular matrix protein 2 | ORPHA:90349 |
| ELN | elastin | ORPHA:90348 |
| FBLN5 | fibulin 5 | ORPHA:90348 |
| GORAB | golgin, RAB6 interacting | ORPHA:2078 |
| LTBP1 | latent transforming growth factor beta binding protein 1 | ORPHA:90349 |
| LTBP4 | latent transforming growth factor beta binding protein 4 | ORPHA:221145 |
| PYCR1 | pyrroline-5-carboxylate reductase 1 | ORPHA:2078 |
| RIN2 | Ras and Rab interactor 2 | ORPHA:217335 |
| SLC2A10 | solute carrier family 2 member 10 | ORPHA:3342 |
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）