loading...| Preferred Name |
METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY |
|
| Synonyms |
MAT I/III DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/250850 |
|
| altLabel |
MAT I/III DEFICIENCY MAT DEFICIENCY HYPERMETHIONINEMIA, ISOLATED PERSISTENT |
|
| cui |
C0268621 |
|
| Gene Locus |
10q22 |
|
| Gene Symbol |
MATA1 MAT1A SAMS1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002306 http://purl.bioontology.org/ontology/OMIM/MTHU020647 http://purl.bioontology.org/ontology/OMIM/MTHU061502 http://purl.bioontology.org/ontology/OMIM/MTHU020646 http://purl.bioontology.org/ontology/OMIM/MTHU020644 http://purl.bioontology.org/ontology/OMIM/MTHU036384 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
250850 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY |
|
| 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] |
|
| tui |
T047 |