KEGG   DISEASE: Familial amyloidosisHelp
H00845                      Disease                                

Familial amyloidosis
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.
Nervous system disease; Inherited metabolic disease
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00845  Familial amyloidosis
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E85  Amyloidosis
    H00845  Familial amyloidosis
BRITE hierarchy
Fat digestion and absorption
Vitamin digestion and absorption
Complement and coagulation cascades
Salivary secretion
Regulation of actin cytoskeleton
TTR [HSA:7276] [KO:K20731]
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
PMID:16105087 (description, gene)
Dember LM
Emerging treatment approaches for the systemic amyloidoses.
Kidney Int 68:1377-90 (2005)

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