MCID: LTT001
MIFTS: 35

Lattice Corneal Dystrophy

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

Aliases & Classifications for Lattice Corneal Dystrophy

MalaCards integrated aliases for Lattice Corneal Dystrophy:

Name: Lattice Corneal Dystrophy 12 55 15
Familial Amyloid Neuropathy, Finnish Type 12
Familial Amyloid Polyneuropathy, Type V 73
Lattice Corneal Dystrophies 37

Classifications:



External Ids:

Disease Ontology 12 DOID:8943
MeSH 44 C537935
KEGG 37 H00956
UMLS 73 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, avellino type and corneal dystrophy, lattice type i. An important gene associated with Lattice Corneal Dystrophy is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways are Regulation of actin cytoskeleton and TGF-beta signaling pathway (KEGG). Affiliated tissues include eye and kidney, and related phenotypes are cellular and homeostasis/metabolism

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 37)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 33.3 TGFBI TGIF1
2 corneal dystrophy, lattice type i 32.9 GSN TGFBI TGIF1
3 corneal dystrophy, gelatinous drop-like 32.8 GSN TACSTD2 TGFBI
4 corneal dystrophy 31.2 GSN TACSTD2 TGFBI
5 lattice corneal dystrophy type ii 12.6
6 corneal dystrophy, lattice type iiia 12.3
7 amyloidosis, finnish type 12.1
8 familial amyloidosis, finnish type 11.7
9 type i 10.6
10 amyloidosis 10.4
11 epithelial and subepithelial dystrophy 10.2 TACSTD2 TGFBI
12 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 10.1
13 polyneuropathy 10.1
14 corneal dystrophy, reis-bucklers type 10.1 TACSTD2 TGFBI
15 burn scar 10.0 FAS TGFB1
16 aging 10.0
17 cataract 10.0
18 juvenile glaucoma 10.0
19 choroiditis 10.0
20 autonomic neuropathy 10.0
21 recurrent corneal erosion 10.0
22 corneal degeneration 10.0
23 kidney disease 10.0
24 neuropathy 10.0
25 polycystic kidney disease 10.0
26 amyloidosis aa 10.0
27 hereditary amyloidosis 10.0
28 ah amyloidosis 10.0
29 facial paralysis 10.0 GSN TGFB1
30 keloids 9.8 FAS TGFB1
31 corneal dystrophy, thiel-behnke type 9.8 GSN TACSTD2 TGFBI
32 corneal disease 9.8 GSN TACSTD2 TGFBI
33 epithelial basement membrane dystrophy 9.6 FAS TGFB1 TGFBI
34 camurati-engelmann disease 9.6 TGFB1 TGIF1
35 silicosis 9.6 FAS TGFB1
36 pneumoconiosis 9.3 FAS TGFB1
37 epithelial-stromal tgfbi dystrophy 9.2 FAS GSN TACSTD2 TGFBI

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.88 GSN TACSTD2 TGFB1 FAS TGFBI TGIF1
2 homeostasis/metabolism MP:0005376 9.85 TGIF1 GSN TACSTD2 TGFB1 TGFBI FAS
3 cardiovascular system MP:0005385 9.83 TGIF1 GSN HTRA1 TGFB1 FAS
4 mortality/aging MP:0010768 9.8 TGIF1 GSN TACSTD2 TGFB1 TGFBI FAS
5 neoplasm MP:0002006 9.56 TACSTD2 TGFB1 FAS TGFBI
6 respiratory system MP:0005388 9.46 TGIF1 GSN TGFB1 FAS
7 skeleton MP:0005390 9.35 GSN HTRA1 TGFB1 FAS TGIF1
8 vision/eye MP:0005391 9.02 HTRA1 TGFB1 FAS 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:

41
Eye, Kidney

Publications for Lattice Corneal Dystrophy

Articles related to Lattice Corneal Dystrophy:

(show top 50) (show all 135)
# Title Authors Year
1
Deep anterior lamellar keratoplasty or penetrating keratoplasty in lattice corneal dystrophy. ( 29676313 )
2018
2
Outcomes of keratoplasty in lattice corneal dystrophy in a large cohort of Indian eyes. ( 29676312 )
2018
3
Transforming growth factor I^ induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy. ( 29085627 )
2017
4
Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients. ( 28381645 )
2017
5
The Changing Face of Aging: Highly Sulfated Glycosaminoglycans Induce Amyloid Formation in a Lattice Corneal Dystrophy Model Protein. ( 28739480 )
2017
6
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
7
Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type. ( 28250773 )
2017
8
Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy. ( 28393022 )
2017
9
Unilateral lattice corneal dystrophy in a young female: A unique case report. ( 29022958 )
2017
10
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene. ( 27402970 )
2016
11
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. ( 27028151 )
2016
12
Epigallocatechin Gallate Remodels Fibrils of Lattice Corneal Dystrophy Protein, Facilitating Proteolytic Degradation and Preventing Formation of Membrane-Permeabilizing Species. ( 27042751 )
2016
13
Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation in TGFBI. ( 27163623 )
2016
14
Persistent staining of lattice lines after intraoperative trypan blue use in patients with lattice corneal dystrophy. ( 25255137 )
2014
15
A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene. ( 24505203 )
2014
16
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
17
Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. ( 24302499 )
2014
18
Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene. ( 24473223 )
2014
19
Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome). ( 25741526 )
2014
20
Lattice corneal dystrophy type 1: an epithelial or stromal entity? ( 25055147 )
2014
21
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. ( 25321938 )
2014
22
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. ( 24425855 )
2014
23
Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype. ( 24579556 )
2013
24
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. ( 23455751 )
2013
25
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
26
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. ( 22080335 )
2012
27
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
28
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. ( 21743312 )
2011
29
Unique TGFBI protein in lattice corneal dystrophy. ( 21948648 )
2011
30
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. ( 20974628 )
2011
31
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. ( 21835759 )
2011
32
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3). ( 20806046 )
2010
33
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. ( 20357204 )
2010
34
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality. ( 21191728 )
2010
35
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
36
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. ( 20161820 )
2010
37
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). ( 19832730 )
2009
38
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). ( 19190930 )
2009
39
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. ( 19956413 )
2009
40
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. ( 19092416 )
2009
41
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. ( 19461933 )
2009
42
Corneal melt in lattice corneal dystrophy type II after cataract surgery. ( 19101443 )
2009
43
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. ( 18385782 )
2008
44
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. ( 18470323 )
2008
45
A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. ( 18303168 )
2008
46
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. ( 18615206 )
2008
47
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. ( 18332318 )
2008
48
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. ( 17534828 )
2007
49
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. ( 17893671 )
2007
50
Delayed epithelial healing after keratoplasty for lattice corneal dystrophy. ( 18043172 )
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:

37
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

Pathways related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 TGFB1 TGIF1
2 10.72 TGFB1 TGIF1
3 10.38 GSN TGIF1

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 extracellular exosome GO:0070062 9.65 FAS GSN HTRA1 TACSTD2 TGFBI
2 extracellular region GO:0005576 9.55 FAS GSN HTRA1 TGFB1 TGFBI
3 extracellular space GO:0005615 9.35 GSN HTRA1 TACSTD2 TGFB1 TGFBI
4 extracellular matrix GO:0031012 8.8 HTRA1 TGFB1 TGFBI

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.54 TACSTD2 TGFB1 TGFBI
2 wound healing GO:0042060 9.49 GSN TGFB1
3 extracellular matrix disassembly GO:0022617 9.48 GSN HTRA1
4 cellular response to mechanical stimulus GO:0071260 9.46 FAS TGFB1
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.43 HTRA1 TGFB1
6 positive regulation of epithelial cell proliferation GO:0050679 9.4 HTRA1 TGFB1
7 cellular response to growth factor stimulus GO:0071363 9.32 TGFB1 TGIF1
8 extrinsic apoptotic signaling pathway GO:0097191 9.26 FAS TGFB1
9 chondrocyte differentiation GO:0002062 9.16 TGFB1 TGFBI
10 oligodendrocyte development GO:0014003 8.96 GSN TGFB1
11 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 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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