Roch-Leri体中部脂肪瘤样病
Roch-Leri mesosomatous lipomatosis
ORPHA:529疾病
定义 英文原文(暂无中文)
Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 无数据
临床表型 4
极常见 99–80%1
- 皮下结节 HP:0001482
常见 79–30%1
- 多发性脂肪瘤 HP:0001012
罕见 <4–1%2
- 紫癜 HP:0000979
- 血小板减少症 HP:0001873
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)