KEGG   DISEASE: Amyloidosis, Finnish type
Entry
H02322                      Disease                                
Name
Amyloidosis, Finnish type;
Meretoja syndrome;
Amyloid cranial neuropathy with lattice corneal dystrophy
  Supergrp
Familial amyloidosis [DS:H00845]
Description
Amyloidosis, Finnish type (Meretoja syndrome) is an autosomal dominant form of systemic amyloidosis caused by a mutation in the gelsolin gene. It is characterized by lattice corneal dystrophy [DS:H00956], progressive cranial neuropathy and systemic amyloid deposits.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Other metabolic disorders
    5D00  Amyloidosis
     H02322  Amyloidosis, Finnish type
Gene
GSN [HSA:2934] [KO:K05768]
Other DBs
ICD-11: 5D00.2Y
MeSH: C537459
OMIM: 105120
Reference
PMID:2176164
  Authors
Maury CP, Kere J, Tolvanen R, de la Chapelle A
  Title
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
  Journal
FEBS Lett 276:75-7 (1990)
DOI:10.1016/0014-5793(90)80510-P
Reference
PMID:1322359
  Authors
de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R, Maury CP
  Title
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.
  Journal
Genomics 13:898-901 (1992)
DOI:10.1016/0888-7543(92)90182-R
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