MCID: LTT008
MIFTS: 22

Lattice Corneal Dystrophy Type Ii

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

Aliases & Classifications for Lattice Corneal Dystrophy Type Ii

MalaCards integrated aliases for Lattice Corneal Dystrophy Type Ii:

Name: Lattice Corneal Dystrophy Type Ii 24 69
Meretoja Syndrome 24 28 69
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 24
Lattice Corneal Dystrophy, Gelsolin Type 24
Familial Amyloid Polyneuropathy Type Iv 24
Amyloidosis Due to Mutant Gelsolin 24
Familial Amyloidosis, Finnish Type 24
Gelsolin-Related Amyloidosis 24
Amyloidosis, Meretoja Type 24
Amyloidosis, Finnish Type 24
Kymenlaakso Syndrome 24
Amyloidosis V 24

Classifications:



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Summaries for Lattice Corneal Dystrophy Type Ii

Genetics Home Reference : 24 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 lattice corneal dystrophy. 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 12.1
2 lattice corneal dystrophy 11.6
3 familial amyloidosis, finnish type 11.4
4 corneal dystrophy 10.4
5 polyneuropathy 10.2
6 blood group, i system 10.0
7 cataract 10.0
8 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 28 GSN

Anatomical Context for Lattice Corneal Dystrophy Type Ii

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

38
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

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_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh37 Chromosome 9, 124073097: 124073097

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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