KEGG   DISEASE: Familial amyloidosis
Entry
H00845                      Disease                                

Name
Familial amyloidosis
  Subgroup
Amyloidosis, Finnish type [DS:H02322]
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00845  Familial amyloidosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Other metabolic disorders
    5D00  Amyloidosis
     H00845  Familial amyloidosis
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]
Drug
Tafamidis [DR:D09673]
Tafamidis meglumine [DR:D09674]
Patisiran sodium [DR:D10794]
Inotersen sodium [DR:D10941]
Other DBs
ICD-11: 5D00.2
ICD-10: E85
MeSH: D028226
OMIM: 105210 105200
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
  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
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