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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0002119 | Ventriculomegaly |
| HP:0002160 | Hyperhomocystinemia |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002878 | Respiratory failure |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003073 | Hypoalbuminemia |
| HP:0003235 | Hypermethioninemia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003429 | CNS hypomyelination |
