Familial amyloidosis, Finnish type

General Information (adopted from Orphanet):

Synonyms, Signs: AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED, INCLUDED
AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY
CORNEAL DYSTROPHY, LATTICE TYPE II, INCLUDED
LCD2, INCLUDED
AMYLOIDOSIS, MERETOJA TYPE
AMYLOIDOSIS V
LATTICE CORNEAL DYSTROPHY, TYPE II, INCLUDED
Hereditary amyloidosis, Finnish type
Gelsolin amyloidosis
Familial amyloid polyneuropathy type 4
Number of Symptoms 17
OrphanetNr: 85448
OMIM Id: 105120
ICD-10: E85.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Amyloidosis
 -Rare systemic or rheumatologic disease
Rare hereditary systemic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome 83 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0001149) Lattice corneal dystrophy 7 / 7739
4
 (HPO:0001271) Polyneuropathy 56 / 7739
5
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
6
 (HPO:0000973) Cutis laxa 43 / 7739
7
 (HPO:0001638) Cardiomyopathy 192 / 7739
8
 (HPO:0003216) Generalized amyloid deposition 4 / 7739
9
 (HPO:0001283) Bulbar palsy 31 / 7739
10
 (HPO:0003581) Adult onset 117 / 7739
11
 (OMIM) Mutant gelsolin gene (137350) 1 / 7739
12
 (OMIM) Cranial neuropathy, esp. facial paresis 1 / 7739
13
 (OMIM) Peripheral polyneuropathy, esp. vibration and touch loss 1 / 7739
14
 (OMIM) Autonomic dysfunction does not occur 1 / 7739
15
 (OMIM) Amyloid cardiomyopathy 1 / 7739
16
 (OMIM) Gastrointestinal symptoms are inconstant 1 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including corneal lattice dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder ...
Clinical Description OMIM In a massive investigation in Finland, Meretoja (1973) identified 207 affected persons. Two patients, whose parents were affected and who were more severely affected than the others, were thought to represent homozygosity. A few of the patients developed ...
Molecular genetics OMIM Maury et al. (1990) studied amyloid fibrils isolated from the kidney of a patient with the Finnish form. The amino acid sequence determined for part of the protein was identical to that deduced for plasma gelsolin in the ...