Neurodegeneration with Brain Iron Accumulation 2a (NBIA2A)

Neurodegeneration with Brain Iron Accumulation 2a(来自ICD-11)
别称:
Infantile Neuroaxonal Dystrophy
Seitelberger Disease
Plan
Inad
Pla2g6-Associated Neurodegeneration
Infantile Neuroaxonal Dystrophy 1
Inad1
Nbia2a
Phospholipase A2-Associated Neurodegeneration
Neurodegeneration, Pla2g6-Associated
Neuroaxonal Dystrophy, Infantile
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related
Neurodegeneration, with Brain Iron Accumulation, Type 2a
Neurodegeneration with Brain Iron Accumulation 2
Neurodegeneration Pla2g6-Associated
Dystrophy, Neuroaxonal, Infantile
Pla2g6-Related Disorders
Neuroaxonal Dystrophies
Seitelberger's Disease
Nbia, Pla2g6-Related
Nbia2
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodegeneration with Brain Iron Accumulation 2a, also known as infantile neuroaxonal dystrophy, is related to spastic quadriplegic cerebral palsy and dementia, and has symptoms including ataxia, seizures and abnormal pyramidal signs. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2a is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Desipramine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are developmental regression and cerebellar atrophy
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
AR
Unknown
--
18
164
109

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