KEGG   DISEASE: Folate-responsive megaloblastic anemia
Entry
H02699                      Disease                                
Name
Folate-responsive megaloblastic anemia
Description
Folate-responsive megaloblastic anemia (MEGAF) is a severe recurrent megaloblastic anemia caused by mutations in SLC19A1. It has been reported that the laboratory abnormalities and clinical signs were normalized only after adding folic acid to the patient's therapy. SLC19A1 encodes the reduced folate carrier (RFC) that facilitates the cellular uptake of anionic folates.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 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
     H02699  Folate-responsive megaloblastic anemia
Pathway
hsa04977  Vitamin digestion and absorption
Gene
SLC19A1 [HSA:6573] [KO:K14609]
Other DBs
ICD-11: 5C63.Y
OMIM: 601775
Reference
PMID:32276275
  Authors
Svaton M, Skvarova Kramarzova K, Kanderova V, Mancikova A, Smisek P, Jesina P, Krijt J, Stiburkova B, Dobrovolny R, Sokolova J, Bakardjieva-Mihaylova V, Vodickova E, Rackova M, Stuchly J, Kalina T, Stary J, Trka J, Fronkova E, Kozich V
  Title
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
  Journal
Blood 135:2427-2431 (2020)
DOI:10.1182/blood.2019003178
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