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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
Methylmalonic Acidemia Due to Transcobalamin Receptor Defect
Alias:
Methylmalonic Aciduria Due to Transcobalamin Receptor Defect
Methylmalonic Acidemia, Tcblr Type
Methylmalonic Acidemia, Tcb1r Type
Methylmalonic Acidemia, Tcbir Type
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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
甲基丙二酸血症由于转钴胺素受体缺陷,也称为甲基丙二酸尿症由于转钴胺素受体缺陷,与转钴胺素受体缺陷引起的暂时性甲基丙二酸尿症有关。与甲基丙二酸血症由于转钴胺素受体缺陷有关的重要基因是CD320(CD320分子)。
Related ID:
MALACARDS:MTH069
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
6
2
MTH069
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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