MCID: LTT001
MIFTS: 31

Lattice Corneal Dystrophy

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

Aliases & Classifications for Lattice Corneal Dystrophy

MalaCards integrated aliases for Lattice Corneal Dystrophy:

Name: Lattice Corneal Dystrophy 12 56 15
Familial Amyloid Neuropathy, Finnish Type 12
Familial Amyloid Polyneuropathy, Type V 74
Lattice Corneal Dystrophies 38

Classifications:



External Ids:

Disease Ontology 12 DOID:8943
KEGG 38 H00956
MeSH 45 C537935
UMLS 74 C0155127

Summaries for Lattice Corneal Dystrophy

MalaCards based summary : Lattice Corneal Dystrophy, also known as familial amyloid neuropathy, finnish type, is related to corneal dystrophy, lattice type i and corneal dystrophy, avellino type. An important gene associated with Lattice Corneal Dystrophy is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways is Regulation of actin cytoskeleton. Affiliated tissues include eye and kidney, and related phenotypes are homeostasis/metabolism and vision/eye

Related Diseases for Lattice Corneal Dystrophy

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, lattice type i 34.0 GSN TGFBI TGIF1
2 corneal dystrophy, avellino type 33.2 CHST6 GCDH TBCD TGFBI
3 corneal dystrophy, gelatinous drop-like 33.1 CHST6 GSN TACSTD2 TGFBI
4 corneal dystrophy 31.3 CHST6 GSN TACSTD2 TGFBI TGIF1
5 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 30.6 TGFBI TGIF1
6 lattice corneal dystrophy type ii 12.8
7 corneal dystrophy, lattice type iiia 12.5
8 amyloidosis, finnish type 12.2
9 familial amyloidosis, finnish type 11.9
10 amyloidosis 10.6
11 polyneuropathy 10.3
12 facial paralysis 10.2 GSN TGFB1
13 macular dystrophy, corneal 10.2 CHST6 TGFBI
14 stromal dystrophy 10.1 CHST6 TGFBI
15 camurati-engelmann disease 10.1 TGFB1 TGIF1
16 corneal dystrophy, meesmann 10.1 CHST6 TGFBI
17 aging 10.1
18 cataract 10.1
19 polycystic kidney disease 10.1
20 juvenile glaucoma 10.1
21 autonomic neuropathy 10.1
22 corneal degeneration 10.1
23 kidney disease 10.1
24 neuropathy 10.1
25 amyloidosis aa 10.1
26 ah amyloidosis 10.1
27 burn scar 10.0 FAS TGFB1
28 keloids 10.0 FAS TGFB1
29 corneal endothelial dystrophy 10.0 CHST6 TGFBI
30 silicosis 9.9 FAS TGFB1
31 corneal granular dystrophy 9.9 CHST6 GCDH TGFBI
32 corneal disease 9.9 CHST6 GSN TACSTD2 TGFBI
33 epithelial and subepithelial dystrophy 9.8 CHST6 TACSTD2 TBCD TGFBI
34 corneal dystrophy, reis-bucklers type 9.8 GCDH TACSTD2 TBCD TGFBI
35 pneumoconiosis 9.7 FAS TGFB1
36 epithelial basement membrane dystrophy 9.7 FAS TBCD TGFB1 TGFBI
37 corneal dystrophy, thiel-behnke type 9.3 CHST6 GCDH GSN TACSTD2 TBCD TGFBI
38 epithelial-stromal tgfbi dystrophy 9.0 CHST6 FAS GCDH GSN TACSTD2 TBCD

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



Diseases related to Lattice Corneal Dystrophy

Symptoms & Phenotypes for Lattice Corneal Dystrophy

MGI Mouse Phenotypes related to Lattice Corneal Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 FAS GCDH GSN RFX6 TACSTD2 TGFB1
2 vision/eye MP:0005391 9.1 CHST6 FAS HTRA1 TGFB1 TGFBI TGIF1

Drugs & Therapeutics for Lattice Corneal Dystrophy

Search Clinical Trials , NIH Clinical Center for Lattice Corneal Dystrophy

Genetic Tests for Lattice Corneal Dystrophy

Anatomical Context for Lattice Corneal Dystrophy

MalaCards organs/tissues related to Lattice Corneal Dystrophy:

42
Eye, Kidney

Publications for Lattice Corneal Dystrophy

Articles related to Lattice Corneal Dystrophy:

(show top 50) (show all 134)
# Title Authors Year
1
Lattice corneal dystrophy with familial amyloid polyneuropathy. ( 30729626 )
2019
2
Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy. ( 30851800 )
2019
3
Impaired Autophagic Degradation of Transforming Growth Factor-β-Induced Protein by Macrophages in Lattice Corneal Dystrophy. ( 30884524 )
2019
4
Deep anterior lamellar keratoplasty or penetrating keratoplasty in lattice corneal dystrophy. ( 29676313 )
2018
5
Outcomes of keratoplasty in lattice corneal dystrophy in a large cohort of Indian eyes. ( 29676312 )
2018
6
Transforming growth factor I^ induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy. ( 29085627 )
2017
7
Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients. ( 28381645 )
2017
8
The Changing Face of Aging: Highly Sulfated Glycosaminoglycans Induce Amyloid Formation in a Lattice Corneal Dystrophy Model Protein. ( 28739480 )
2017
9
Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp. ( 28689406 )
2017
10
Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type. ( 28250773 )
2017
11
Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy. ( 28393022 )
2017
12
Unilateral lattice corneal dystrophy in a young female: A unique case report. ( 29022958 )
2017
13
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene. ( 27402970 )
2016
14
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. ( 27028151 )
2016
15
Epigallocatechin Gallate Remodels Fibrils of Lattice Corneal Dystrophy Protein, Facilitating Proteolytic Degradation and Preventing Formation of Membrane-Permeabilizing Species. ( 27042751 )
2016
16
Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation in TGFBI. ( 27163623 )
2016
17
Persistent staining of lattice lines after intraoperative trypan blue use in patients with lattice corneal dystrophy. ( 25255137 )
2014
18
A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene. ( 24505203 )
2014
19
Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene. ( 24589966 )
2014
20
Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene. ( 24473223 )
2014
21
Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome). ( 25741526 )
2014
22
Lattice corneal dystrophy type 1: an epithelial or stromal entity? ( 25055147 )
2014
23
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. ( 25321938 )
2014
24
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. ( 24425855 )
2014
25
Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype. ( 24579556 )
2013
26
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. ( 23455751 )
2013
27
Unilateral Variant of Late-Onset Lattice Corneal Dystrophy With the Pro501Thr Mutation in the TGFBI Gene Without Deposits in the Unaffected Cornea Using Confocal Microscopy. ( 23884333 )
2013
28
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. ( 22080335 )
2012
29
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
30
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. ( 21743312 )
2011
31
Unique TGFBI protein in lattice corneal dystrophy. ( 21948648 )
2011
32
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. ( 20974628 )
2011
33
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. ( 21835759 )
2011
34
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3). ( 20806046 )
2010
35
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. ( 20357204 )
2010
36
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality. ( 21191728 )
2010
37
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
38
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. ( 20161820 )
2010
39
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). ( 19832730 )
2009
40
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). ( 19190930 )
2009
41
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. ( 19956413 )
2009
42
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. ( 19092416 )
2009
43
Corneal melt in lattice corneal dystrophy type II after cataract surgery. ( 19101443 )
2009
44
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. ( 18385782 )
2008
45
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. ( 18470323 )
2008
46
A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. ( 18303168 )
2008
47
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. ( 18615206 )
2008
48
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. ( 18332318 )
2008
49
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. ( 17534828 )
2007
50
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. ( 17893671 )
2007

Variations for Lattice Corneal Dystrophy

Expression for Lattice Corneal Dystrophy

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

Pathways for Lattice Corneal Dystrophy

Pathways related to Lattice Corneal Dystrophy according to KEGG:

38
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

GO Terms for Lattice Corneal Dystrophy

Cellular components related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.8 HTRA1 TGFB1 TGFBI

Biological processes related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extrinsic apoptotic signaling pathway GO:0097191 9.26 FAS TGFB1
2 chondrocyte differentiation GO:0002062 9.16 TGFB1 TGFBI
3 oligodendrocyte development GO:0014003 8.96 GSN TGFB1
4 positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:2001269 8.62 FAS GSN

Sources for Lattice Corneal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....