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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614702
http://purl.bioontology.org/ontology/OMIM/614702
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|---|---|
| Preferred Name | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 |
| Synonyms |
COXPD10
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
COXPD10
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
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|---|---|
| prefLabel | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
| Gene Symbol |
MTO1
COXPD10
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| Scope Statement | Some favorable outcome has been seen with treatment with dichloroacetate (DCA) or ketogenic diet [MISCELLANEOUS]
Caused by mutation in the mitochondrial tRNA translation optimization 1 gene (MTO1, 614667.0001) [MOLECULAR BASIS]
Sudden infantile death (in some patients) [MISCELLANEOUS]
Onset at birth or in first months of life but a few have presented as late as 8 years of age [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 6q13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 614702
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4749921
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |