Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy (SMAFK)

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy(来自ICD-11)
别称:
Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant
Autosomal Dominant Adult-Onset Proximal Sma
Finkel Disease
Smafk
Autosomal Dominant Adult Proximal Spinal Muscular Atrophy
Finkel Late-Adult Type Sma
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy, also known as autosomal dominant late-onset spinal muscular atrophy, finkel type, is related to autosomal dominant proximal spinal muscular atrophy and spinal muscular atrophy, late-onset, finkel type, and has symptoms including muscular fasciculation An important gene associated with Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy is VAPB (VAMP Associated Protein B And C), and among its related pathways/superpathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics and Ethanol metabolism production of ROS by CYP2E1. Related phenotypes are fatigue and areflexia
查看原文 参与反馈

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
Adult
--
8
40
15

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