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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614458
http://purl.bioontology.org/ontology/OMIM/614458
|
|---|---|
| Preferred Name | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) |
| Synonyms |
THMD5
ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
THMD5
ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY
|
|---|---|
| prefLabel | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
|
| Gene Symbol |
THMD5
TPK1
|
| Scope Statement | Some features may be progressive [MISCELLANEOUS]
Encephalopathic episodes associated with increased serum and CSF lactate [MISCELLANEOUS]
Onset in early childhood [MISCELLANEOUS]
Thiamine supplementation may be beneficial [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the thiamine pyrophosphokinase gene (TPK1, 606370.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 7q34
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 614458
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280866
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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 |