| H00845 | |
| H番号 | H00845 |
| 名称 | 家族性アミロイド症 |
| 概要 | The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration that renders them avid for Congo red dye. In the familial amyloidoses, a gene mutation inherited in an autosomal-dominant manner results in a single amino acid substitution that renders a plasma protein amyloidogenic. Mutations in the TTR gene are the most common cause of familial amyloidosis. The clinical features of familial amyloidosis vary depending on the underlying amyloidogenic protein and the particular amino acid affected by the mutation, ranging from peripheral and autonomic neuropathy to cardiomyopathy. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | TTR [HSA:7276] [KO:K20731] FGA [HSA:2243] [KO:K03903] APOA1 [HSA:335] [KO:K08757] LYZ [HSA:4069] [KO:K13915] B2M [HSA:567] [KO:K08055] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ドロキシドパ [DR:D01277] タファミジスメグルミン [DR:D09674] パチシランナトリウム [DR:D10794] ブトリシランナトリウム [DR:D11916] タファミジス [DR:D09673] |
| コメント | - |
| リンク | ICD-11: 5D00.2 ICD-10: E85 MeSH: D028226 OMIM: 105210 105200 |
| 文献 | PMID:16105087 著者 Dember LM タイトル Emerging treatment approaches for the systemic amyloidoses. 雑誌 Kidney Int 68:1377-90 (2005) DOI:10.1111/j.1523-1755.2005.00535.x PMID:16009758 著者 Ando Y, Nakamura M, Araki S タイトル Transthyretin-related familial amyloidotic polyneuropathy. 雑誌 Arch Neurol 62:1057-62 (2005) DOI:10.1001/archneur.62.7.1057 PMID:8097946 著者 Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R タイトル Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. 雑誌 Nat Genet 3:252-5 (1993) DOI:10.1038/ng0393-252 PMID:9931341 著者 Yamakawa-Kobayashi K, Yanagi H, Fukayama H, Hirano C, Shimakura Y, Yamamoto N, Arinami T, Tsuchiya S, Hamaguchi H タイトル Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 雑誌 Hum Mol Genet 8:331-6 (1999) DOI:10.1093/hmg/8.2.331 PMID:8464497 著者 Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al. タイトル Human lysozyme gene mutations cause hereditary systemic amyloidosis. 雑誌 Nature 362:553-7 (1993) DOI:10.1038/362553a0 PMID:22693999 著者 Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, Touchard G, Goujon JM, Lacombe C, Lozeron P, Adams D, Lacroix C, Maisonobe T, Plante-Bordeneuve V, Vrana JA, Theis JD, Giorgetti S, Porcari R, Ricagno S, Bolognesi M, Stoppini M, Delpech M, Pepys MB, Hawkins PN, Bellotti V タイトル Hereditary systemic amyloidosis due to Asp76Asn variant beta2-microglobulin. 雑誌 N Engl J Med 366:2276-83 (2012) DOI:10.1056/NEJMoa1201356 |