OBO ID: DOID:0112255
Term Name: homocystinuria-megaloblastic anemia cblE type Search Ontology:
Synonyms:
  • functional methionine synthase deficiency type cblE
  • HMAE
  • homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type
  • methylcobalamin deficiency, cblE type
  • vitamin B12-responsive homocystinuria, cblE type
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. https://pubmed.ncbi.nlm.nih.gov/3384945/
References:
Ontology: Human Disease   ( DOID:0112255 )
OTHER homocystinuria-megaloblastic anemia cblE type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTRR Homocystinuria-megaloblastic anemia, cbl E type 236270
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None