homocystinuria-megaloblastic anemia cblE type

Summary

DOID:0112255 - homocystinuria-megaloblastic anemia cblE type

Disease Ontology Definition:An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine 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 the MTRR gene on chromosome 5p15.31.

Synonyms: HMAE, functional methionine synthase deficiency type cblE, homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type, methylcobalamin deficiency, cblE type, vitamin B12-responsive homocystinuria, cblE type,

Xenbase 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

: mtrr

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)