KEGG DISEASE: Vitamin B12 deficiency anaemia

KEGG

DISEASE: Vitamin B12 deficiency anaemia

Entry

H01277                      Disease

Name

Vitamin B12 deficiency anaemia

Subgroup

Imerslund-Grasbeck syndrome (IGS)
Intrinsic factor deficiency (IFD)

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 CBLIF, the gene encoding intrinsic factor.

Category

Hematologic disease

Brite

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-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H01277  Vitamin B12 deficiency anaemia

Pathway

Vitamin digestion and absorption

Network

nt06538 Cobalamin transport and metabolism

Gene

(IGS1) CUBN [HSA:8029] [KO:K14616]
(IGS2) AMN [HSA:81693] [KO:K18259]
(IFD) CBLIF [HSA:2694] [KO:K14615]

Other DBs

ICD-11:

MeSH:

OMIM:

261100 618882 261000

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

Reference

PMID:10080186 (CUBN)

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

PMID:24044590 (AMN)

Authors

De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P

Title

Imerslund-Grasbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.

Journal

Ital J Pediatr 39:58 (2013)
DOI:10.1186/1824-7288-39-58

Reference

PMID:15738392 (CBLIF)

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

LinkDB

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