homocystinuria-megaloblastic anemia cblG type

Summary

DOID:0112256 - homocystinuria-megaloblastic anemia cblG type

Disease Ontology Definition:An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.

Synonyms: HMAG, homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type, homocystinuria-megaloblastic anemia, cblG complementation type, methylcobalamin deficiency, cblG type

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: LOC579215

MIM:

MIM:250940 - homocystinuria-megaloblastic anemia, cblg complementation type; hmag

MIM:250940 - homocystinuria-megaloblastic anemia, cblg complementation type; hmag

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)