Klippel-Trenaunay-Weber Syndrome (KTS)

Klippel-Trenaunay-Weber Syndrome(来自ICD-11)
别称:
Klippel-Trenaunay Syndrome
Angioosteohypertrophic Syndrome
Kts
Klippel-Trénaunay-Weber Syndrome
Angioosteohypertrophy Syndrome
Haemangiectatic Hypertrophy
Congenital Dysplastic Angiopathy
Angio-Osteohypertrophy Syndrome
Klippel-Trenaunay Disease
Weber Klippel Trenaunay
Ktw Syndrome
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to weber syndrome and hemangioma. An important gene associated with Klippel-Trenaunay-Weber Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Temsirolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are hemangioma and venous insufficiency
查看原文 参与反馈
相关ID:
MESH:D007715
ICD11:1561120378

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
--
Newborn
1-9/1000000
37
398
30

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top