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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 Iik (CDG2K)
Alias:
Congenital Disorder of Glycosylation Type Iik
Cdg2k
Cdg Iik
Carbohydrate Deficient Glycoprotein Syndrome Type Iik
Congenital Disorder of Glycosylation Type 2k
Cdg Syndrome Type Iik
Cdg-Iik
Cdgiik
Glycosylation, Congenital Disorder of, Type Iik
Tmem165-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2k
Tmem165-Cdg
Cdgiidk
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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Iik,又称先天性糖基化障碍类型Iik,与先天性糖基化障碍类型IH和先天性糖基化障碍类型IIM有关,症状包括肌肉无力。与先天性糖基化障碍,类型Iik有关的重要基因是TMEM165(跨膜蛋白165),其相关通路/超级通路包括传染病和蛋白质代谢。附属组织包括骨和眼,相关表型为中面部后缩和釉质发育不全。
Related ID:
MALACARDS:CNG383
OMIM:614727
MESH:D018981
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
17
74
2
CNG383
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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