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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
Pseudoachondroplasia (PSACH)
Alias:
Pseudoachondroplastic Dysplasia
Psach
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
Pseudoachondroplastic Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia Pseudoachondroplastic
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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
伪软骨发育不全,又称伪软骨发育不全性发育不良,与软骨发育不良、多发性1和软骨病有关,症状包括腕部尺偏和鸭步。与伪软骨发育不全相关的基因是COMP(软骨寡聚矩阵蛋白),其相关通路/超级通路包括整合素通路和磷脂酶-C通路。在该疾病的背景下,已提到过白藜芦醇和血小板聚集抑制剂。附属组织包括骨和骨髓,相关表型为关节松弛和比例不均的短肢短身高。
Related ID:
MALACARDS:PSD012
OMIM:177170
MESH:C535819
ICD11:1192649257
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
18
121
76
PSD012
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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