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Echinobase
Summary Literature (0)
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 : LOC579215


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

Other Model Organisms: AGR, 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)