KEGG   DISEASE: H01277Help
Entry
H01277                      Disease                                

Name
Vitamin B12 deficiency anaemia, including:
Hereditary intrinsic factor deficiency (IFD);
Imerslund-Grasbeck syndrome (IGS)/ Megaloblastic anemia 1
Description
Vitamin B12 deficiency anaemia is caused by intestinal malabsorption of cobalamin. Imerslund-Grasbeck syndrome (IGS) is an autosomal recessive disorder characterized by juvenile megaloblastic anaemia and neurological symptoms such as peripheral neuropathy, cognitive problems, and dementia. If untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. Both proteins are involved in intestinal absorption and renal tubular reabsorption. Hereditary intrinsic factor deficiency (IFD) is a phenotype that is caused by mutations in GIF, the gene encoding intrinsic factor.
Category
Hematologic disease
BRITE hierarchy
Pathway
Vitamin digestion and absorption
Gene
(IFD) GIF [HSA:2694] [KO:K14615]
(IGS) CUBN [HSA:8029] [KO:K14616]
(IGS) AMN [HSA:81693]
Marker
Low serum Vitamin B12 [CPD:C05776]
Low urinary radioactive vit B12 excretion (Schilling test)
Drug
Vitamin B12 [DR:D00191]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A
  Title
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
  Journal
Proc Natl Acad Sci U S A 102:4130-3 (2005)
Reference
  Authors
Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R
  Title
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
  Journal
Nat Genet 21:309-13 (1999)
Reference
  Authors
Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A
  Title
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary  megaloblastic anemia.
  Journal
Nat Genet 33:426-9 (2003)
Reference
  Authors
Grasbeck R
  Title
Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
  Journal
Orphanet J Rare Dis 1:17 (2006)

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