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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Cerebral Palsy, Ataxic, Autosomal Recessive (ACP)
Alias:
Ataxic Cerebral Palsy
Congenital Cerebral Palsy with Ataxia
Cerebral Infantile Diataxia
Ataxia with Cerebral Palsy
Ataxic Cerebral Paralysis
Hypotonic Cerebral Palsy
Cerebral Palsy, Atonic
Cerebral Palsy Ataxic
Acp
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
脑性瘫痪,共济失调,常染色体隐性,也称为共济失调性脑性瘫痪,与脊髓小脑性共济失调13和脊髓小脑性共济失调15有关,症状包括共济失调和二分节律失调。与脑性瘫痪,共济失调,常染色体隐性相关的基因是CPAT1(脑性瘫痪,共济失调1),其相关通路/超级通路包括CLEC7A(Dectin-1)信号通路和多巴胺-DARPP32反馈到cAMP通路。在该疾病的背景下提到了D-亮氨酸。相关组织包括小脑和大脑,相关表型为言语障碍和运动延迟。
Related ID:
MALACARDS:CRB108
OMIM:605388
ICD11:1134558601
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
12
92
4
CRB108
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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