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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612073
http://purl.bioontology.org/ontology/OMIM/612073
|
|---|---|
| Preferred Name | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) |
| Synonyms |
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED
MTDPS5
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED
MTDPS5
|
|---|---|
| prefLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
|
| Gene Symbol |
MTDPS5
SUCLA2
|
| Scope Statement | Caused by mutation in the succinate-CoA ligase ADP-forming beta-subunit gene (SUCLA2, 603921.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Increased frequency in the Faroe Islands (carrier 1 in 25) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 13q14.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 612073
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5980207
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |