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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
Parastremmatic Dwarfism (PSTD)
Alias:
Parastremmatic Dysplasia
Dwarfism, Parastremmatic
Pstd
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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
旁系性侏儒症,也称为旁系性发育不良,与遗传性运动和感觉神经病,类型iiC和元转发育不良有关。与旁系性侏儒症有关的重要基因是TRPV4(瞬时受体电位阳离子通道家族V成员4),其相关通路/超通路包括离子通道转运和L1CAM相互作用。附属组织包括骨和前额叶皮层,相关表型为脊柱侧弯和脊柱后凸。
Related ID:
MALACARDS:PRS051
OMIM:168400
MESH:C537172
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
10
96
7
PRS051
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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