Defective CUBN causes MGA1

Stable Identifier
R-HSA-3359463
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CUBN causes hereditary megaloblastic anemia 1
ReviewStatus
5/5
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Defective CUBN causes MGA1
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Defects in the CUBN gene cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Finnish type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Finnish cases described by Grasbeck et al. were caused by defects in CUBN (Grasbeck et al. 1960). The resultant malabsorption of Cbl (cobalamin, vitamin B12) leads to impaired B12-dependent folate metabolism and ultimately impaired thymine synthesis and DNA replication.
Literature References
PubMed ID Title Journal Year
13828999 Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome

KANTERO, I, KUHLBACK, B, GORDIN, R, GRASBECK, R

Acta Med Scand 1960
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
megaloblastic anemia DOID:13382 megaloblastic anemia, Megaloblastic anemia (disorder), Anaemia - megaloblastic, Megaloblastic anemia NOS (disorder), Megaloblastic anaemia, ANEMIA MEGALOBLASTIC, Megaloblastic anemia NOS, Megaloblastic Anemia, Megaloblastic anemia NOS (disorder), Anaemia - megaloblastic, Megaloblastic anemia, NOS, Megaloblastic anemia NOS
Authored
Jassal, B  (2013-05-13)
Reviewed
Watkins, D  (2013-08-14)
Created
Jassal, B  (2013-05-13)
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