MCID: LTT008
MIFTS: 23

Lattice Corneal Dystrophy Type Ii malady

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

Aliases & Classifications for Lattice Corneal Dystrophy Type Ii

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Aliases & Descriptions for Lattice Corneal Dystrophy Type Ii:

Name: Lattice Corneal Dystrophy Type Ii 25 68
Meretoja Syndrome 25 27 68
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:



Summaries for Lattice Corneal Dystrophy Type Ii

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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 lattice corneal dystrophy and amyloidosis, finnish type. An important gene associated with Lattice Corneal Dystrophy Type Ii is GSN (Gelsolin). Affiliated tissues include eye, skin and liver.

Related Diseases for Lattice Corneal Dystrophy Type Ii

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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:

idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy11.5
2amyloidosis, finnish type11.3
3familial amyloidosis, finnish type11.3
4corneal dystrophy10.3
5polyneuropathy10.1
6cataract10.0
7amyloidosis10.0

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



Diseases related to lattice corneal dystrophy type ii

Symptoms & Phenotypes for Lattice Corneal Dystrophy Type Ii

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Drugs & Therapeutics for Lattice Corneal Dystrophy Type Ii

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Drugs for Lattice Corneal Dystrophy Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3868

Interventional clinical trials:

idNameStatusNCT IDPhase
1Changes in Body- and Liver-composition During Low Calorie Diet in Morbidly ObeseUnknown statusNCT01842425

Search NIH Clinical Center for Lattice Corneal Dystrophy Type Ii

Genetic Tests for Lattice Corneal Dystrophy Type Ii

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Genetic tests related to Lattice Corneal Dystrophy Type Ii:

id Genetic test Affiliating Genes
1 Meretoja Syndrome27

Anatomical Context for Lattice Corneal Dystrophy Type Ii

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

36
Eye, Skin, Liver

Publications for Lattice Corneal Dystrophy Type Ii

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Articles related to Lattice Corneal Dystrophy Type Ii:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Lattice Corneal Dystrophy Type Ii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GSNNM_001127666.1(GSN): c.520G> A (p.Asp174Asn)SNVPathogenicrs121909715GRCh37Chr 9, 124073097: 124073097
2GSNNM_001127666.1(GSN): c.520G> T (p.Asp174Tyr)SNVPathogenicrs121909715GRCh37Chr 9, 124073097: 124073097

Expression for genes affiliated with Lattice Corneal Dystrophy Type Ii

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

Pathways for genes affiliated with Lattice Corneal Dystrophy Type Ii

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GO Terms for genes affiliated with Lattice Corneal Dystrophy Type Ii

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Sources for Lattice Corneal Dystrophy Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet