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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
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP)
Alias:
Jacobs Syndrome
Pericarditis-Arthropathy-Camptodactyly Syndrome
Arthropathy-Camptodactyly Syndrome
Cacp Syndrome
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly-Arthropathy-Pericarditis Syndrome
Pac Syndrome
Cap Syndrome
Cacp
Hypertrophic Synovitis, Congenital Familial
Fibrosing Serositis, Familial
Congenital Familial Hypertrophic Synovitis
Familial Fibrosing Serositis
Cdags Syndrome
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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
先天性手足徐动症-关节炎-股骨头坏死-心包炎综合征,也被称为雅各布氏综合征,与股骨头坏死和心包炎有关。与先天性手足徐动症-关节炎-股骨头坏死-心包炎综合征相关的基因是PRG4(蛋白聚糖4),其相关通路/超级通路包括心脏传导和肌纤维收缩通路。相关组织包括骨和心脏,相关表型为股骨头坏死和手指手足徐动症。
Related ID:
MALACARDS:CMP012
OMIM:208250
MESH:C537560
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
26
127
14
CMP012
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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