Hypermethioninemia due to glycine N-methyltransferase deficiency
Synonyms: Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypermethioninemia due to glycine N-methyltransferase deficiency | Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency |
| fr | Hyperméthioninémie par déficit en glycine N-méthyltransférase | Hyperméthioninémie par déficit en GNMT |
| de | Hypermethioninämie durch Glycin N-Methyltransferase-Mangel | Glycin N-Methyltransferase-Mangel · Hypermethioninämie durch GNMT-Mangel |
| es | Hipermetioninemia por deficiencia de glicina N-metiltransferasa | Deficiencia de glicina N-metiltransferasa · Hipermetioninemia por deficiencia de GNMT |
| it | Ipermetioninemia da deficit di glicina N-metiltransferasi | Deficit di glicina N-metiltransferasi · Ipermetioninemia da deficit di GNMT |
| nl | Hypermethioninemie door deficiëntie van glycine N-methyltransferase | Deficiëntie van glycine N-methyltransferase · Hypermethioninemie door GNMT-deficiëntie |
| pt | Hipermetioninemia por deficiência de glicina N-metiltransferase | Deficiência de glicina N-metiltransferase · Hipermetioninemia por deficiência de GNMT |
| pl | Hipermetioninemia z powodu niedoboru N-metylotransferazy glicyny | Hipermetioninemia z powodu niedoboru GNMT · Niedobór N-metylotransferazy glicyny |
| cs | Hypermethioninemie způsobená deficitem glycin N-methyltransferázy | Deficit glycin N-methyltransferázy · Hypermethioninemie způsobená deficitem GNMT |
| uk | Гіперметіонінемія внаслідок дефіциту гліцин-N-метилтрансферази | Дефіцит гліцин-N-метилтрансферази · Гіперметіонінемія внаслідок дефіциту GNMT |
| zh | 甘氨酸N-甲基转移酶缺陷所致高蛋氨酸血症 | 甘氨酸N-甲基转移酶缺乏症所致高蛋氨酸血症 |
| tr | Glisin N-metiltransferaz eksikliğine bağlı hipermetiyoninemi | Glisin N-metiltransferaz eksikliği · GNMT eksikliğine bağlı hipermetiyoninemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606664 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0011698 | E | validated | |
| UMLS | C1847720 | E | validated | |
| GARD | 10764 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNMT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4415 | ENSG00000124713 | 606628 | 6p21.1 | glycine N-methyltransferase | 19585268[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289891
- This record as JSON: /data/d/289891.json