3-Methylglutaconic Aciduria, Type Viib (MGCA7B)

Alias:
3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia
Megcann
Mgca7b
Mgca7
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia, Autosomal Recessive
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia
3-Methylglutaconic Aciduria, Type Viib, Autosomal Recessive
3-Methylglutaconic Aciduria, Type Vii
3-Methylglutaconic Aciduria Type 7b
3-Methylglutaconic Aciduria 7b
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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
3-甲基戊二酸尿症,类型VIIB,也称为3-甲基戊二酸尿症,类型VII,伴有白内障、神经病变和中性粒细胞减少,与clpb缺乏和3-甲基戊二酸尿症,类型VIIA有关。与3-甲基戊二酸尿症,类型VIIB相关的基因是CLPB(ClpB家族线粒体解聚酶)。相关组织包括大脑和骨髓。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
14

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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