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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
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:
MALACARDS:3MT025
OMIM:616271
MESH:D008661
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
3MT025
Medical Symptom
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No data available
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