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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
Congenital Disorder of Glycosylation, Type Ix (CDG1X)
Alias:
Cdg1x
Congenital Disorder of Glycosylation Type Ix
Congenital Disorder of Glycosylation 1x
Cdg Ix
Cdg-Ix
Cdgix
Carbohydrate Deficient Glycoprotein Syndrome Type Ix
Glycosylation, Congenital Disorder of, Type Ix
Congenital Disorder of Glycosylation Type 1x
Stt3b-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Ix
Cdg Syndrome Type Ix
Stt3b-Cdg
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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
先天性糖基化障碍,类型IX,也称为cdg1x,与stt3a-cdg和stt3b-cdg有关,由于凝血酶缺陷导致血栓形成。与先天性糖基化障碍,类型IX有关的重要基因是STT3B(STT3寡糖基转移酶复合物催化亚基B)。附属组织包括睾丸和骨髓,相关表型为智力障碍和癫痫发作。
Related ID:
MALACARDS:CNG403
OMIM:615597
MESH:D018981
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
2
CNG403
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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