3-Methylglutaconic Aciduria, Type Ix (MGCA9)

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Disease Ontology 12 DOID:0070002 OMIM 56 617698 OMIM Phenotypic Series 56 PS250950 MeSH 43 D008661

Orphanet 58 ORPHA505216 MedGen 41 C4540171 CN510468 SNOMED-CT via HPO 68 165232002 221360009 224958001 230456007 237950009 248004009 258211005 26544005 278849000 28055006 36440009 36649002 397790002 398151007 398152000 40700009 418143002 432788009 52522001 61372001 76976005 81308009 more

OMIM : ⁵⁶ MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). (617698)

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Ix, is also known as 3-methylglutaconic aciduria type 9. An important gene associated with 3-Methylglutaconic Aciduria, Type Ix is TIMM50 (Translocase Of Inner Mitochondrial Membrane 50). Related phenotypes are muscular hypotonia and muscle weakness

Disease Ontology : ¹² A 3-methylglutaconic aciduria that has material basis in homozygous mutation in the TIMM50 gene on chromosome 19q13.

UniProtKB/Swiss-Prot : ⁷³ 3-methylglutaconic aciduria 9: An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria.

Clinical features from OMIM:

617698

Search Clinical Trials , NIH Clinical Center for 3-Methylglutaconic Aciduria, Type Ix

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria, Type Ix.