MCID: LTT008
MIFTS: 22

Lattice Corneal Dystrophy Type Ii

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Lattice Corneal Dystrophy Type Ii

MalaCards integrated aliases for Lattice Corneal Dystrophy Type Ii:

Name: Lattice Corneal Dystrophy Type Ii 25 73
Meretoja Syndrome 25 29 6 73
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 25
Lattice Corneal Dystrophy, Gelsolin Type 25
Familial Amyloid Polyneuropathy Type Iv 25
Amyloidosis Due to Mutant Gelsolin 25
Familial Amyloidosis, Finnish Type 25
Gelsolin-Related Amyloidosis 25
Amyloidosis, Meretoja Type 25
Amyloidosis, Finnish Type 25
Kymenlaakso Syndrome 25
Amyloidosis V 25

Classifications:



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Summaries for Lattice Corneal Dystrophy Type Ii

Genetics Home Reference : 25 Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid deposits lead to characteristic signs and symptoms involving the eyes, nerves, and skin that worsen with age.

MalaCards based summary : Lattice Corneal Dystrophy Type Ii, also known as meretoja syndrome, is related to amyloidosis, finnish type and familial amyloidosis, finnish type. An important gene associated with Lattice Corneal Dystrophy Type Ii is GSN (Gelsolin). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include eye, skin and liver.

Related Diseases for Lattice Corneal Dystrophy Type Ii

Diseases in the Lattice Corneal Dystrophy family:

Corneal Dystrophy, Lattice Type I Corneal Dystrophy, Lattice Type Iiia
Lattice Corneal Dystrophy Type Ii

Diseases related to Lattice Corneal Dystrophy Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 11.9
2 familial amyloidosis, finnish type 11.7
3 corneal dystrophy 10.4
4 lattice corneal dystrophy 10.4
5 polyneuropathy 10.2
6 cataract 10.0
7 amyloidosis 10.0

Graphical network of the top 20 diseases related to Lattice Corneal Dystrophy Type Ii:



Diseases related to Lattice Corneal Dystrophy Type Ii

Symptoms & Phenotypes for Lattice Corneal Dystrophy Type Ii

Drugs & Therapeutics for Lattice Corneal Dystrophy Type Ii

Drugs for Lattice Corneal Dystrophy Type Ii (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 Lattice Corneal Dystrophy Type Ii

Genetic Tests for Lattice Corneal Dystrophy Type Ii

Genetic tests related to Lattice Corneal Dystrophy Type Ii:

# Genetic test Affiliating Genes
1 Meretoja Syndrome 29 GSN

Anatomical Context for Lattice Corneal Dystrophy Type Ii

MalaCards organs/tissues related to Lattice Corneal Dystrophy Type Ii:

41
Eye, Skin, Liver

Publications for Lattice Corneal Dystrophy Type Ii

Articles related to Lattice Corneal Dystrophy Type Ii:

# Title Authors Year
1
Corneal melt in lattice corneal dystrophy type II after cataract surgery. ( 19101443 )
2009
2
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. ( 17534828 )
2007
3
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. ( 8684801 )
1996
4
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. ( 8145387 )
1993
5
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. ( 1658654 )
1991
6
Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). ( 1923356 )
1991

Variations for Lattice Corneal Dystrophy Type Ii

ClinVar genetic disease variations for Lattice Corneal Dystrophy Type Ii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GSN NM_000177.4(GSN): c.640G> A (p.Asp214Asn) single nucleotide variant Pathogenic rs121909715 GRCh37 Chromosome 9, 124073097: 124073097
2 GSN NM_000177.4(GSN): c.640G> A (p.Asp214Asn) single nucleotide variant Pathogenic rs121909715 GRCh38 Chromosome 9, 121310819: 121310819
3 GSN NM_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh37 Chromosome 9, 124073097: 124073097
4 GSN NM_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh38 Chromosome 9, 121310819: 121310819

Expression for Lattice Corneal Dystrophy Type Ii

Search GEO for disease gene expression data for Lattice Corneal Dystrophy Type Ii.

Pathways for Lattice Corneal Dystrophy Type Ii

GO Terms for Lattice Corneal Dystrophy Type Ii

Sources for Lattice Corneal Dystrophy Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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