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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
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P23526 | Adenosylhomocysteinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000164 | Abnormality of the dentition |
| HP:0000252 | Microcephaly |
| HP:0000486 | Strabismus |
| HP:0000565 | Esotropia |
| HP:0000708 | Atypical behavior |
| HP:0000736 | Short attention span |
| HP:0001263 | Global developmental delay |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001324 | Muscle weakness |
| HP:0001392 | Abnormality of the liver |
