3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia (MGA7)

3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia(来自ICD-11)

别称:

3-Methylglutaconic Aciduria Type 7

Mga7

3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia

3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome

3-Methylglutaconic Aciduria Type Vii

Megcann

Mgca7

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia, also known as 3-methylglutaconic aciduria type 7, is related to 3-methylglutaconic aciduria, type viib and clpb deficiency. An important gene associated with 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia is CLPB (ClpB Family Mitochondrial Disaggregase), and among its related pathways/superpathways are Complex I biogenesis and Mitochondrial calcium ion transport. Affiliated tissues include eye and brain, and related phenotypes are cataract and nephrocalcinosis

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