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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/251880
http://purl.bioontology.org/ontology/OMIM/251880
|
|---|---|
| Preferred Name | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) |
| Synonyms |
MTDPS3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MTDPS3
|
|---|---|
| prefLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
|
| Gene Symbol |
PEOB4
DGK
NCPH1
MTDPS3
DGUOK
|
| Scope Statement | Caused by mutation in the nuclear-encoded mitochondrial deoxyguanosine kinase gene (DGUOK, 601465.0001). [MOLECULAR BASIS]
Most patients die of hepatic failure by 9 months of age [MISCELLANEOUS]
Onset as neonate [MISCELLANEOUS]
Hepatic failure develops in first months of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 251880
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3711385
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |