Basal Cell Nevus Syndrome 1 (BCNS1)

Basal Cell Nevus Syndrome 1(来自ICD-11)
别称:
Basal Cell Nevus Syndrome
Nevoid Basal Cell Carcinoma Syndrome
Gorlin Syndrome
Nbccs
Gorlin-Goltz Syndrome
Bcns
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies
Bcns1
Nevoid Basal Cell Carcinoma Syndrome 1
Naevoid Basal Cell Carcinoma Syndrome
Nevoid Basal-Cell Carcinoma Syndrome
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Basal Cell Nevus Syndrome 1, also known as basal cell nevus syndrome, is related to basal cell carcinoma 1 and basal cell nevus syndrome 2. An important gene associated with Basal Cell Nevus Syndrome 1 is PTCH1 (Patched 1), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and ERK Signaling. The drugs Verteporfin and Veratrum Alkaloids have been mentioned in the context of this disorder. Affiliated tissues include skin and heart, and related phenotypes are cerebral calcification and melanocytic nevus
查看原文 参与反馈
相关ID:
MESH:D001478
ICD11:1012745138

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
--
Unknown
1-9/1000000
64
1079
160

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