Klippel-TrÚnaunay综合征
Capillary-lymphatic-venous malformation with segmental distribution
定义 英文原文（暂无中文）
A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.
别名
CLVM with segmental distribution、KTS、Klippel-Trénaunay syndrome
基本事实
- 遗传方式
- 多基因/多因素、不适用
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000（United States）
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Disease-causing somatic mutation(s) in |
| AGGF1 | angiogenic factor with G-patch and FHA domains 1 | Major susceptibility factor in |
临床表型 31
极常见 99–80%5
- 骨骼形态异常 HP:0011842
- 血管瘤 HP:0001028
- 下肢不对称 HP:0100559
- 上肢不对称 HP:0100560
- 静脉功能不全 HP:0005293
常见 79–30%5
- 蜂窝织炎 HP:0100658
- 胃肠道出血 HP:0002239
- 肺栓塞 HP:0002204
- 高身材 HP:0000098
- 静脉血栓形成 HP:0004936
偶见 29–5%21
- 颅骨形态异常 HP:0000929
- 三尖瓣形态异常 HP:0001702
- 月经周期异常 HP:0000140
- 肺动脉异常 HP:0004414
- 腹水 HP:0001541
- 房间隔缺损 HP:0001631
- 充血性心力衰竭 HP:0001635
- 水肿 HP:0000969
- 血尿 HP:0000790
- 肝脏肿大 HP:0002240
- 胎儿水肿 HP:0001789
- 高凝状态 HP:0100724
- 智力障碍 HP:0001249
- 内出血 HP:0011029
- 巨头畸形 HP:0000256
- 小头畸形 HP:0000252
- 小细胞性贫血 HP:0001935
- 动脉导管未闭 HP:0001643
- 外围动静脉瘘 HP:0100784
- 出血时间延长 HP:0003010
- 呼吸功能不全 HP:0002093
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）