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COXPD10
MCID: CMB025
MIFTS: 38
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Combined Oxidative Phosphorylation Deficiency 10 (COXPD10)
Categories:
Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 10:
Characteristics:Orphanet epidemiological data:58
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth or in first months of life but a few have presented as late as 8 years of age sudden infantile death (in some patients) some favorable outcome has been seen with treatment with dichloroacetate (dca) or ketogenic diet HPO:31
combined oxidative phosphorylation deficiency 10:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Cardiovascular diseases
ICD10:
33
Orphanet: 58
Inborn errors of metabolism |
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OMIM® :
57
COXPD10 is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases (summary by Ghezzi et al., 2012).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (614702) (Updated 05-Mar-2021)
MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 10, also known as coxpd10, is related to queensland tick typhus and deafness, autosomal recessive 26. An important gene associated with Combined Oxidative Phosphorylation Deficiency 10 is MTO1 (Mitochondrial TRNA Translation Optimization 1), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include brain, and related phenotypes are spasticity and optic atrophy Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has material basis in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13. UniProtKB/Swiss-Prot : 73 Combined oxidative phosphorylation deficiency 10: An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. |
Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 10:31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:614702 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 10:40
Brain
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Articles related to Combined Oxidative Phosphorylation Deficiency 10:
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Genes related to Combined Oxidative Phosphorylation Deficiency 10 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:6 (show top 50) (show all 82)
UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:73
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Search
GEO
for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 10.
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Cellular components related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:
Biological processes related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:
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