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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:0003560 | Muscular dystrophy |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0008151 | Prolonged prothrombin time |
| HP:0008169 | Reduced factor VII activity |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0010719 | Abnormality of hair texture |
| HP:0010901 | Abnormal circulating methionine concentration |
| HP:0010919 | Abnormal circulating homocysteine concentration |
| HP:0011900 | Hypofibrinogenemia |
| HP:0011996 | Elevated coagulation factor V activity |
