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hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Summary
- Synonym
-
- hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
- Definition
- A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.
- Super Class
- hypermethioninemia
External Links
- Disease Ontology
- DOID:0111039
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001402 | Hepatocellular carcinoma |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0001638 | Cardiomyopathy |
| HP:0001763 | Pes planus |
| HP:0001789 | Hydrops fetalis |
| HP:0001928 | Abnormality of coagulation |
| HP:0001976 | Reduced antithrombin III activity |
| HP:0001999 | Abnormal facial shape |
| HP:0002079 | Hypoplasia of the corpus callosum |
