| H01277 | |
| H番号 | H01277 |
| 名称 | ビタミン B12 欠乏性貧血 |
| 概要 | 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. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | (IGS1) CUBN [HSA:8029] [KO:K14616] (IGS2) AMN [HSA:81693] [KO:K18259] (IFD) CBLIF [HSA:2694] [KO:K14615] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A01 ICD-10: D51.0 D51.1 OMIM: 261100 618882 261000 |
| 文献 | PMID:16722557 著者 Grasbeck R タイトル Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). 雑誌 Orphanet J Rare Dis 1:17 (2006) DOI:10.1186/1750-1172-1-17 PMID:10080186 (CUBN) 著者 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 タイトル Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. 雑誌 Nat Genet 21:309-13 (1999) DOI:10.1038/6831 PMID:24044590 (AMN) 著者 De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P タイトル Imerslund-Grasbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. 雑誌 Ital J Pediatr 39:58 (2013) DOI:10.1186/1824-7288-39-58 PMID:15738392 (CBLIF) 著者 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 タイトル Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 雑誌 Proc Natl Acad Sci U S A 102:4130-3 (2005) DOI:10.1073/pnas.0500517102 |