CyageniCyagen
首页AI 智能助手
工具集
数据库
资源
关于我们
AI 工具
RNA剪接预测模型
ASO设计模型
致病性预测模型
生信工具
序列查看
突变查看
抗体发现
靶点洞察
计算分析
数据库
基因库
疾病库
模型库
突变库
学习
学习中心
探索
iCyagen
赛业生物
OriCell®细胞生物学
AbSeek®智能抗体计算平台
联系
联系我们
中文
EN
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 (FTDALS7)
别称:
Amyotrophic Lateral Sclerosis
|
Frontotemporal Dementia
|
Frontotemporal Lobar Degeneration
|
Ftd3
|
Als
|
Amyotrophic Lateral Sclerosis, Chmp2b-Related
|
Frontotemporal Dementia, Chromosome 3-Linked
|
Pallidopontonigral Degeneration
|
Lou Gehrig Disease
|
Chromosome 3-Linked Frontotemporal Dementia
|
Lou Gehrig's Disease
|
Charcot Disease
|
Ftdals7
|
Ftd
|
Multiple System Tauopathy with Presenile Dementia
|
Amyotrophic Lateral Sclerosis, Susceptibility to
|
Chmp2b-Related Frontotemporal Dementia
|
Amyotrophic Lateral Sclerosis 17
|
Motor Neuron Disease, Bulbar
|
Wilhemsen-Lynch Disease
|
Als17
|
Amyotrophic Lateral Sclerosis Caused by Mutation in Chmp2b
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Frontotemporal Dementia with Motor Neuron Disease
|
Dementia in Fronto-Temporal Lobar Degeneration
|
Chmp2b-Related Amyotrophic Lateral Sclerosis
|
Frontotemporal Dementia with Parkinsonism-17
|
Amyotrophic Lateral Sclerosis with Dementia
|
Dementia with Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis 17, Formerly
|
Amyotrophic Lateral Sclerosis Type 17
|
Chmp2b Amyotrophic Lateral Sclerosis
|
Grn-Related Frontotemporal Dementia
|
Amyotrophic Lateral Sclerosis-Plus
|
Progressive Atrophic Paralysis
|
Spinal Progressive Amyotrophy
|
Frontotemporal Lobe Dementia
|
Amyotrophy Lateral Sclerosis
|
Pick Disease of the Brain
|
Chmp2b-Related Disorder
|
Frontal Lobe Dementia
|
Amyotrophic Sclerosis
|
Amyotrophic Paralysis
|
Wasting Paralysis
|
Als17, Formerly
|
Temple Dementia
|
Chmp2b-Related
|
Wasting Palsy
|
Ftd-Chmp2b
|
Ftd-3
|
Dtm1
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Patients may exhibit muscle weakness, wasting, bulbar signs, respiratory insufficiency, behavioral changes, memory loss, cognitive decline, and disinhibition. Pathology shows UBB, p62/sequestosome, and TDP43-immunoreactive intraneuronal inclusions. FTD involves frontal and temporal lobe atrophy with neuronal loss, gliosis, and dementia. ALS is characterized by motor neuron death in the brain and spinal cord, leading to paralysis. FTDALS7 can manifest as both ALS and FTD. ALS, also known as Lou Gehrig's disease, affects motor neurons causing muscle problems, speech difficulties, and respiratory failure. FTD is a group of disorders involving behavioral changes, executive dysfunction, and language impairment due to brain degeneration. Familial ALS (FALS) constitutes 5-10% of cases and may involve mutations in the C9ORF72 and SOD1 genes. ALS-PDC is a rare form of ALS with parkinsonism and dementia. FTD can present with personality changes, language deficits, or movement-related issues. Onset of FTD is insidious with a gradual decline in behavior or language. ALS is progressive with muscle twitching, cramps, weakness, and eventual loss of voluntary muscle control. Diagnosis is based on symptoms and tests to rule out other diseases. No cure exists, but medications can manage symptoms and prolong survival.
相关ID:
MALACARDS: FRN059
|
OMIM: 600795
|
MESH: C563003
|
ICD11: 1982355687
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
常染色体显性遗传
AR
常染色体隐性遗传
成年期
1-9/100000
年发病率:
1-9/100000 (Europe, United Kingdom, Ireland, Finland, United States, Uruguay, Denmark, Italy, France, Spain, Norway, Faroe Islands, Specific population, Specific population)
1-9/1000000 (Taiwan, Province of China, Iran, Islamic Republic of)
1-9/100000 (Italy)
时点患病率:
1-9/100000 (Europe, United Kingdom, Ireland, Finland, Canada, Uruguay, Denmark, Spain, Norway, Taiwan, Province of China, Iran, Islamic Republic of, Specific population)
1-5/10000 (Specific population)
2197
16722
381
FRN059
疾病表征
当前疾病关联的表型信息:
分类:疾病表征所属解剖分类;
HPO概率/Orphanet概率:对应表征在当前疾病的发生概率,可根据发生概率进行排序;
HPO来源:跳转至HPO查看表征详情。
数据来源:HPO、Orphanet
基因 & 突变
当前疾病关联的基因及其突变:
作用分类:基因的主要生物学作用;
分值:疾病与基因之间的关联强度,分值越高,关联越紧密;
突变数量:疾病与基因相关的突变数量,括号内数字为同一Clinvar ID关联的数据总量,点击数字即可查看突变详情。
数据来源:Clinvar
靶点药物
与当前基因相关药物,展示CAS号、研发与临床试验状态。
数据来源:Clinical Trials
相关模型
当前基因相关的小鼠模型,点击模型名称,可查看模型详情。
数据来源:MGI
文献报道
当前基因最为密切相关的文献,可按年份、文献类型筛选,并可根据影响因子排序。
数据来源:Uniprot、PubMed
Cyagen
首页
工具
数据库
资源
关于我们
邮箱:icyagen-support@cyagen.com
电话:+86 18620792549
地址:广州市黄埔区香雪八路98号
欢迎关注我们
iCyagen
赛业(苏州)生物科技有限公司 Copyright © 2024 Cyagen Biosciences. All rights reserved. 备案号:苏ICP备16016913号-18
隐私条款
用户协议
回到顶部