Schopf-Schulz-Passarge Syndrome (SSPS)

Schopf-Schulz-Passarge Syndrome(来自ICD-11)
别称:
Ssps
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Eccrine Tumors with Ectodermal Dysplasia
Eccrine Tumors-Ectodermal Dysplasia
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis
Schc6pf-Schulz-Passarge Syndrome
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Schopf-Schulz-Passarge Syndrome, also known as ssps, is related to hypotrichosis and ectodermal dysplasia. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (Wnt Family Member 10A), and among its related pathways/superpathways are Hair follicle development: organogenesis - part 2 of 3 and EDA signaling in hair follicle development. The drugs Oxacillin and Cloxacillin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are palmoplantar keratoderma and sparse hair
查看原文 参与反馈
相关ID:

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
AR
AD
Child
<1/1000000
12
104
16

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