Scalp-Ear-Nipple Syndrome (SENS)

Scalp-Ear-Nipple Syndrome(来自ICD-11)
别称:
Finlay-Marks Syndrome
Sen Syndrome
Sens
Scalp Ear Nipple Syndrome
Hereditary Syndrome of Lumpy Scalp, Odd Ears, and Rudimentary Nipples
Hereditary Syndrome of Lumpy Scalp, Odd Ears and Rudimentary Nipples
Indian Childhood Cirrhosis
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Scalp-Ear-Nipple Syndrome, also known as finlay-marks syndrome, is related to branchiooculofacial syndrome and chromosome 2q35 duplication syndrome, and has symptoms including swelling of eyelid An important gene associated with Scalp-Ear-Nipple Syndrome is KCTD1 (Potassium Channel Tetramerization Domain Containing 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. The drugs Acetylsalicylic acid and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include breast and skin, and related phenotypes are microtia and aplasia/hypoplasia of the nipples
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
Newborn
<1/1000000
13
64
10

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