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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/245349
http://purl.bioontology.org/ontology/OMIM/245349
|
|---|---|
| Preferred Name | PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY |
| Synonyms |
LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX
PDHXD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX
PDHXD
|
|---|---|
| prefLabel | PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
|
| Gene Symbol |
PDHX
PDHXD
PDX1
E3BP
|
| Scope Statement | Caused by mutation in the component X gene of the pyruvate dehydrogenase complex (PDHX, 608769.0001) [MOLECULAR BASIS]
Phenotypic similarities to Leigh syndrome (256000) [MISCELLANEOUS]
Patients may or may not have dysmorphic features [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Onset at birth or in early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 11p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 245349
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1855553
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |