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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 if (CDG1F)
Alias:
Cdg1f
Congenital Disorder of Glycosylation Type if
Congenital Disorder of Glycosylation 1f
Cdg if
Cdg-if
Cdgif
Carbohydrate Deficient Glycoprotein Syndrome Type if
Glycosylation, Congenital Disorder of, Type if
Congenital Disorder of Glycosylation Type 1f
Mpdu1-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation if
Cdg Syndrome Type if
Mpdu1-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
先天性糖基化紊乱,类型if,也称为cdg1f,与先天性糖基化紊乱,类型in和N-连接糖基化紊乱以及多条途径有关,症状包括共济失调、癫痫和皮肤干燥。与先天性糖基化紊乱,类型if有关的重要基因是MPDU1(甘露糖-P-多糖利用缺陷1)。附属组织包括皮肤和大脑,相关表型为智力障碍,严重和类型i转铁蛋白异构体表型。
Related ID:
MALACARDS:CNG188
OMIM:609180
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
3
CNG188
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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