KEGG   DISEASE: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Entry
H02761                      Disease                                
Name
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Description
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) is a severe combined immunodeficiency resulting from MTHFD1 mutations. Variable phenotypes, including megaloblastic anemia, atypical hemolytic uremic syndrome, hyperhomocysteinemia, microangiopathy, infections and autoimmune diseases have been reported. MTHFD1 is a trifunctional enzyme that functions in the cytoplasmic folate cycle.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Nutritional or metabolic anaemias
    3A02  Folate deficiency anaemia
     H02761  Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C63  Disorders of vitamin or non-protein cofactor absorption or transport
     H02761  Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Gene
(CIMAH) MTHFD1 [HSA:4522] [KO:K00288]
Other DBs
ICD-11: 3A02.Y 5C63.1
OMIM: 617780
Reference
PMID:25633902
  Authors
Burda P, Kuster A, Hjalmarson O, Suormala T, Burer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR
  Title
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
  Journal
J Inherit Metab Dis 38:863-72 (2015)
DOI:10.1007/s10545-015-9810-3
Reference
PMID:32414565
  Authors
Bidla G, Watkins D, Chery C, Froese DS, Ells C, Kerachian M, Saskin A, Christensen KE, Gilfix BM, Gueant JL, Rosenblatt DS
  Title
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
  Journal
Mol Genet Metab 130:179-182 (2020)
DOI:10.1016/j.ymgme.2020.04.008
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