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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/245348
http://purl.bioontology.org/ontology/OMIM/245348
|
|---|---|
| Preferred Name | PYRUVATE DEHYDROGENASE E2 DEFICIENCY |
| Synonyms |
PDHDD
LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PDHDD
LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX
|
|---|---|
| prefLabel | PYRUVATE DEHYDROGENASE E2 DEFICIENCY
|
| Gene Symbol |
DLAT
PDCE2
|
| Scope Statement | Caused by mutation in the dihydrolipoamide acetyltransferase gene (DLAT, 608770.0001) [MOLECULAR BASIS]
Very rare [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q23.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 245348
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1855565
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |