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Hypermethioninemia due to glycine N-methyltransferase deficiency
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
B-cell chronic lymphocytic leukemia
Dyskeratosis congenita
Familial isolated congenital asplenia
Hoyeraal-Hreidarsson syndrome
Retinopathy - anemia- central nervous system anomalies
Synonym(s):
- Glycine N-methyltransferase deficiency
- Hypermethioninemia due to GNMT deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GNMT Q14749606628
No signs/symptoms info available.