3-Methylglutaconic Aciduria, Type V (MGCA5)

Alias:

3-Methylglutaconic Aciduria Type 5

Mga5

Dilated Cardiomyopathy with Ataxia

Dcma Syndrome

Mgca5

Dcma

3-Methylglutaconic Aciduria Type V

Mga Type V

Dilated Cardiomyopathy with Ataxia Syndrome

3-Alpha-Methylglutaconic Aciduria Type 5

Cardiomyopathy, Dilated, with Ataxia

3-@methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria 5

Dnajc19 Defect

Mga, Type V

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Methylglutaconic Aciduria, Type V, also known as 3-methylglutaconic aciduria type 5, is related to 3-methylglutaconic aciduria, type i and barth syndrome, and has symptoms including cerebellar ataxia and muscle weakness. An important gene associated with 3-Methylglutaconic Aciduria, Type V is DNAJC19 (DnaJ Heat Shock Protein Family (Hsp40) Member C19), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include heart and testes, and related phenotypes are ataxia and growth delay

Related ID：

MALACARDS：3MT014

OMIM：610198

MESH：D002311