| H00845 | |
| H number | H00845 |
| Name | Familial amyloidosis |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Tafamidis [DR:D09673] Tafamidis meglumine [DR:D09674] Patisiran sodium [DR:D10794] Inotersen sodium [DR:D10941] Vutrisiran sodium [DR:D11916] |
| Comment | - |
| Other DBs | ICD-11: 5D00.2 ICD-10: E85 MeSH: D028226 OMIM: 105210 105200 |
| Reference | PMID:16105087 AUTHORS Dember LM TITLE Emerging treatment approaches for the systemic amyloidoses. JOURNAL Kidney Int 68:1377-90 (2005) DOI:10.1111/j.1523-1755.2005.00535.x PMID:16009758 AUTHORS Ando Y, Nakamura M, Araki S TITLE Transthyretin-related familial amyloidotic polyneuropathy. JOURNAL Arch Neurol 62:1057-62 (2005) DOI:10.1001/archneur.62.7.1057 PMID:8097946 AUTHORS Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R TITLE Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. JOURNAL Nat Genet 3:252-5 (1993) DOI:10.1038/ng0393-252 PMID:9931341 AUTHORS Yamakawa-Kobayashi K, Yanagi H, Fukayama H, Hirano C, Shimakura Y, Yamamoto N, Arinami T, Tsuchiya S, Hamaguchi H TITLE Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. JOURNAL Hum Mol Genet 8:331-6 (1999) DOI:10.1093/hmg/8.2.331 PMID:8464497 AUTHORS Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al. TITLE Human lysozyme gene mutations cause hereditary systemic amyloidosis. JOURNAL Nature 362:553-7 (1993) DOI:10.1038/362553a0 PMID:22693999 AUTHORS 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 TITLE Hereditary systemic amyloidosis due to Asp76Asn variant beta2-microglobulin. JOURNAL N Engl J Med 366:2276-83 (2012) DOI:10.1056/NEJMoa1201356 |