Lissencephaly, X-Linked, 1 (LISX1)

Lissencephaly, X-Linked, 1(来自ICD-11)
别称:
Lissencephaly Type 1 Due to Doublecortin Gene Mutation
Lissencephaly, X-Linked
Subcortical Laminal Heterotopia, X-Linked
X-Linked Lissencephaly Type 1
X-Linked Lissencephaly 1
Double Cortex
Lisx1
Xlis
Lissencephaly and Agenesis of Corpus Callosum
Subcortical Band Heterotopia X-Linked
Subcortical Laminar Heterotopia
Lissencephaly, X-Linked, Type 1
Subcortical Band Heterotopia
Lissencephaly, X-Linked 1
X-Linked Lissencephaly
Xlis1
Sclh
Sbhx
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lissencephaly, X-Linked, 1, also known as lissencephaly type 1 due to doublecortin gene mutation, is related to lissencephaly, x-linked, 2 and lissencephaly 1, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly, X-Linked, 1 is DCX (Doublecortin), and among its related pathways/superpathways are Lissencephaly gene (LIS1) in neuronal migration and development and PAFAH1B1 copy number variation. Affiliated tissues include cortex and brain, and related phenotypes are seizure and cognitive impairment
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
XL
XLD
Newborn
--
6
46
33

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