原发性淋巴水肿
Primary lymphedema
ORPHA:77240疾病组
定义 英文原文（暂无中文）
Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-5 / 10 000（Europe）
相关基因 28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 |
|---|---|---|
| ADAMTS3 | ADAM metallopeptidase with thrombospondin type 1 motif 3 | ORPHA:2136 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | ORPHA:648 |
| CBL | Cbl proto-oncogene | ORPHA:648 |
| CCBE1 | collagen and calcium binding EGF domains 1 | ORPHA:2136 |
| CELSR1 | cadherin EGF LAG seven-pass G-type receptor 1 | ORPHA:569816 |
| EPHB4 | EPH receptor B4 | ORPHA:568065 |
| FAT4 | FAT atypical cadherin 4 | ORPHA:2136 |
| FOXC2 | forkhead box C2 | ORPHA:33001 |
| GJC2 | gap junction protein gamma 2 | ORPHA:568051 |
| IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | ORPHA:69088 |
| KATNB1 | katanin regulatory subunit B1 | ORPHA:89844 |
| KIF11 | kinesin family member 11 | ORPHA:2526 |
| KRAS | KRAS proto-oncogene, GTPase | ORPHA:648 |
| LZTR1 | leucine zipper like post translational regulator 1 | ORPHA:648 |
| MPI | mannose phosphate isomerase | ORPHA:79319 |
| MRAS | muscle RAS oncogene homolog | ORPHA:648 |
| NDE1 | nudE neurodevelopment protein 1 | ORPHA:89844 |
| NRAS | NRAS proto-oncogene, GTPase | ORPHA:648 |
| PTPN11 | protein tyrosine phosphatase non-receptor type 11 | ORPHA:648 |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase | ORPHA:648 |
| RASA2 | RAS p21 protein activator 2 | ORPHA:648 |
| RELN | reelin | ORPHA:89844 |
| RIT1 | Ras like without CAAX 1 | ORPHA:648 |
| RRAS2 | RAS related 2 | ORPHA:648 |
| SOS1 | SOS Ras/Rac guanine nucleotide exchange factor 1 | ORPHA:648 |
| SOS2 | SOS Ras/Rho guanine nucleotide exchange factor 2 | ORPHA:648 |
| SPRED2 | sprouty related EVH1 domain containing 2 | ORPHA:648 |
| VEGFC | vascular endothelial growth factor C | ORPHA:569821 |
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）