MCID: FML249
MIFTS: 24

Familial Amyloidosis, Finnish Type

Categories: Bone diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Amyloidosis, Finnish Type

MalaCards integrated aliases for Familial Amyloidosis, Finnish Type:

Name: Familial Amyloidosis, Finnish Type 54
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 54
Lattice Corneal Dystrophy Type Ii Finnish 54
Familial Amyloid Polyneuropathy, Type Iv 74
Familial Amyloid Polyneuropathy Type Iv 54
Type Iv Familial Amyloid Polyneuropathy 56
Lattice Corneal Dystrophy Type Ii 74
Hereditary Gelsolin Amyloidosis 54
Amyloidosis, Meretoja Type 54
Meretoja Syndrome 74
Agel Amyloidosis 54
Amyloidosis V 54

Classifications:



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Summaries for Familial Amyloidosis, Finnish Type

NIH Rare Diseases : 54 Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.

MalaCards based summary : Familial Amyloidosis, Finnish Type, also known as amyloid cranial neuropathy with lattice corneal dystrophy, is related to amyloidosis, finnish type and lattice corneal dystrophy type ii. An important gene associated with Familial Amyloidosis, Finnish Type is GSN (Gelsolin). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver.

Related Diseases for Familial Amyloidosis, Finnish Type

Diseases in the Amyloidosis, Finnish Type family:

Familial Amyloidosis, Finnish Type

Diseases related to Familial Amyloidosis, Finnish Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 11.8
2 lattice corneal dystrophy type ii 11.3
3 amyloidosis 10.6
4 polyneuropathy 10.3
5 cutis laxa 10.2
6 retinitis pigmentosa 10.0
7 leber congenital amaurosis 4 10.0
8 facial paralysis 10.0
9 retinitis 10.0
10 anhidrosis 9.9
11 neuropathy 9.9
12 corneal dystrophy 9.7
13 lattice corneal dystrophy 9.7

Graphical network of the top 20 diseases related to Familial Amyloidosis, Finnish Type:



Diseases related to Familial Amyloidosis, Finnish Type

Symptoms & Phenotypes for Familial Amyloidosis, Finnish Type

Drugs & Therapeutics for Familial Amyloidosis, Finnish Type

Drugs for Familial Amyloidosis, Finnish Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Changes in Body- and Liver-composition During Low Calorie Diet in Morbidly Obese Unknown status NCT01842425

Search NIH Clinical Center for Familial Amyloidosis, Finnish Type

Genetic Tests for Familial Amyloidosis, Finnish Type

Anatomical Context for Familial Amyloidosis, Finnish Type

MalaCards organs/tissues related to Familial Amyloidosis, Finnish Type:

42
Skin, Eye, Liver

Publications for Familial Amyloidosis, Finnish Type

Articles related to Familial Amyloidosis, Finnish Type:

(show all 21)
# Title Authors Year
1
Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report. ( 27217609 )
2016
2
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. ( 25444639 )
2015
3
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. ( 14639586 )
2003
4
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. ( 11753432 )
2002
5
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). ( 11226199 )
2001
6
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). ( 11222521 )
2001
7
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. ( 9547007 )
1998
8
[Familial amyloidosis, Finnish type with marked anhidrosis]. ( 8741346 )
1996
9
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. ( 8684801 )
1996
10
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). ( 7868127 )
1995
11
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. ( 8107706 )
1994
12
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). ( 7836945 )
1994
13
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. ( 8145387 )
1993
14
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. ( 8243656 )
1993
15
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. ( 8383491 )
1993
16
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. ( 8395367 )
1993
17
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. ( 1322359 )
1992
18
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. ( 2157434 )
1990
19
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. ( 2176550 )
1990
20
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. ( 2162627 )
1990
21
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. ( 2176481 )
1990

Variations for Familial Amyloidosis, Finnish Type

Expression for Familial Amyloidosis, Finnish Type

Search GEO for disease gene expression data for Familial Amyloidosis, Finnish Type.

Pathways for Familial Amyloidosis, Finnish Type

GO Terms for Familial Amyloidosis, Finnish Type

Sources for Familial Amyloidosis, Finnish Type

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50 NCI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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