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MGCA9
MCID: 3MT023
MIFTS: 22
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3-Methylglutaconic Aciduria, Type Ix (MGCA9)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for 3-Methylglutaconic Aciduria, Type Ix:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset of seizures in first months of life seizures tend to be responsive to medical treatment four patients from 2 unrelated consanguineous families have been reported (last curated september 2017) Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases |
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OMIM
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57
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 mgca9. An important gene associated with 3-Methylglutaconic Aciduria, Type Ix is TIMM50 (Translocase Of Inner Mitochondrial Membrane 50). Affiliated tissues include eye, and related phenotypes are spasticity 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 : 75 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. |
Diseases in the 3-Methylglutaconic Aciduria family: |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617698Human phenotypes related to 3-Methylglutaconic Aciduria, Type Ix:32 (show all 14)
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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria, Type Ix:41
Eye
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Genes related to 3-Methylglutaconic Aciduria, Type Ix (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for 3-Methylglutaconic Aciduria, Type Ix:6
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Search
GEO
for disease gene expression data for 3-Methylglutaconic Aciduria, Type Ix.
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