KEGG   DISEASE: Vitamin B12 deficiency anaemia
Entry
H01277                      Disease                                

Name
Vitamin B12 deficiency anaemia
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
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01277  Vitamin B12 deficiency anaemia
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
    3A01  Megaloblastic anaemia due to vitamin B12 deficiency
     H01277  Vitamin B12 deficiency anaemia
Pathway
hsa04977  Vitamin digestion and absorption
Gene
(IFD) GIF [HSA:2694] [KO:K14615]
(IGS) CUBN [HSA:8029] [KO:K14616]
(IGS) AMN [HSA:81693] [KO:K18259]
Other DBs
ICD-11: 3A01
ICD-10: D51.0 D51.1
OMIM: 261000 261100
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)
DOI:10.1073/pnas.0500517102
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)
DOI:10.1038/6831
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)
DOI:10.1038/ng1098
Reference
  Authors
Grasbeck R
  Title
Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
  Journal
Orphanet J Rare Dis 1:17 (2006)
DOI:10.1186/1750-1172-1-17

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