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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
Choreoacanthocytosis (CHAC)
Alias:
Chorea-Acanthocytosis
Chac
Levine-Critchley Syndrome
Acanthocytosis with Neurologic Disorder
Choreaacanthocytosis
Neuroacanthocytosis
Levine-Critchley Syndrome, Formerly
Chorea Acanthocytosis Syndrome
Neuroacanthocytosis, Formerly
Choreo-Acanthocytosis
Acanthocytosis Chorea
Chorea Acanthocytosis
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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
Choreoacanthocytosis, 也被称为舞蹈-尖头细胞症,与舌-面-颊部运动障碍和口腔-下颌肌张力障碍有关,症状包括癫痫发作、性格改变和反复肌肉抽搐(症状)。与Choreoacanthocytosis相关的基因是VPS13A(Vacuolar Protein Sorting 13 Homolog A),其相关通路/超级通路包括三羧酸循环(哺乳动物)。相关组织包括舌和皮肤,相关表型为舞蹈病和不自主运动
Related ID:
MALACARDS:CHR105
OMIM:200150
MESH:D054546
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
成年期
--
18
126
36
CHR105
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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