KEGG   DISEASE: H01277Help
H01277                      Disease                                

Vitamin B12 deficiency anaemia, including:
Hereditary intrinsic factor deficiency (IFD);
Imerslund-Grasbeck syndrome (IGS)/ Megaloblastic anemia 1
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.
Hematologic disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01277  Vitamin B12 deficiency anaemia
Human diseases in ICD-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D50-D53  Nutritional anaemias
   D51  Vitamin B12 deficiency anaemia
    H01277  Vitamin B12 deficiency anaemia
BRITE hierarchy
Vitamin digestion and absorption
(IFD) GIF [HSA:2694] [KO:K14615]
(IGS) CUBN [HSA:8029] [KO:K14616]
(IGS) AMN [HSA:81693] [KO:K18259]
Low serum Vitamin B12 [CPD:C05776]
Low urinary radioactive vit B12 excretion (Schilling test)
Vitamin B12 [DR:D00191]
Other DBs
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
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
Proc Natl Acad Sci U S A 102:4130-3 (2005)
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
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Nat Genet 21:309-13 (1999)
Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary  megaloblastic anemia.
Nat Genet 33:426-9 (2003)
Grasbeck R
Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Orphanet J Rare Dis 1:17 (2006)

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