H01277 | |
H number | H01277 |
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 CBLIF, the gene encoding intrinsic factor. |
Category | Hematologic disease |
Network | - |
Gene | (IGS1) CUBN [HSA:8029] [KO:K14616] (IGS2) AMN [HSA:81693] [KO:K18259] (IFD) CBLIF [HSA:2694] [KO:K14615] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3A01 ICD-10: D51.0 D51.1 OMIM: 261100 618882 261000 |
Reference | PMID:16722557 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 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 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 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 |