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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/250850
http://purl.bioontology.org/ontology/OMIM/250850
|
|---|---|
| Preferred Name | METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY |
| Synonyms |
MAT I/III DEFICIENCY
MAT DEFICIENCY
HYPERMETHIONINEMIA, ISOLATED PERSISTENT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MAT I/III DEFICIENCY
MAT DEFICIENCY
HYPERMETHIONINEMIA, ISOLATED PERSISTENT
|
|---|---|
| prefLabel | METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
|
| Gene Symbol |
MATA1
MAT1A
SAMS1
|
| Scope Statement | Patient with truncating mutations are more likely to develop neurologic abnormalities [MISCELLANEOUS]
Most patients are clinically asymptomatic [MISCELLANEOUS]
Caused by mutation in the methionine adenosyltransferase 1 gene (MAT1A, 610550.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 250850
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268621
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |