KEGG   DISEASE: H00845Help
Entry
H00845                      Disease                                

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; Inherited metabolic disease
BRITE hierarchy
Pathway
Fat digestion and absorption
Vitamin digestion and absorption
Complement and coagulation cascades
Salivary secretion
Regulation of actin cytoskeleton
Gene
TTR [HSA:7276]
APOA1 [HSA:335] [KO:K08757]
APOA2 [HSA:336] [KO:K08758]
FGA [HSA:2243] [KO:K03903]
LYZ [HSA:4069] [KO:K13915]
GSN [HSA:2934] [KO:K05768]
Other DBs
Reference
PMID:16105087 (description, gene)
  Authors
Dember LM
  Title
Emerging treatment approaches for the systemic amyloidoses.
  Journal
Kidney Int 68:1377-90 (2005)

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