Brooke-Spiegler Syndrome (BRSS)

Brooke-Spiegler Syndrome(来自ICD-11)
别称:
Cyld Cutaneous Syndrome
Familial Multiple Trichoepitheliomata
Spiegler-Brooke Syndrome
Familial Cylindromatosis
Bss
Multiple Familial Trichoepithelioma
Brss
Sbs
Mft
Hereditary Multiple Benign Cystic Epithelioma
Epithelioma Adenoides Cysticum of Brooke
Familial Multiple Trichoepithelioma
Trichoepithelioma Multiple Familial
Brooke-Fordyce Trichoepitheliomas
Ancell-Spiegler Cylindromas
Eccrine Dermal Cylindroma
Schilbach-Rott Syndrome
Turban Tumor Syndrome
Trichoepithelioma
Eac
Ccs
Fc
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brooke-Spiegler Syndrome, also known as cyld cutaneous syndrome, is related to cylindromatosis, familial and spiradenoma. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways/superpathways are Keratinization and Cytoskeletal Signaling. Affiliated tissues include skin and salivary gland, and related phenotypes are subcutaneous nodule and papule
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
AD
Unknown
<1/1000000
29
198
64

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