MCID: LTT001
MIFTS: 36

Lattice Corneal Dystrophy

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

Aliases & Classifications for Lattice Corneal Dystrophy

MalaCards integrated aliases for Lattice Corneal Dystrophy:

Name: Lattice Corneal Dystrophy 12 51 14
Familial Amyloid Neuropathy, Finnish Type 12
Familial Amyloid Polyneuropathy, Type V 69
Lattice Corneal Dystrophies 36

Classifications:



External Ids:

Disease Ontology 12 DOID:8943
MeSH 41 C537935
KEGG 36 H00956
UMLS 69 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 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

Wikipedia : 72 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

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 35)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, lattice type i 33.2 GSN TGFBI TGIF1
2 corneal dystrophy, avellino type 32.9 TBCD TGFBI TGIF1
3 corneal dystrophy, gelatinous drop-like 32.8 GSN TACSTD2 TGFBI
4 corneal dystrophy 31.3 GSN TACSTD2 TGFBI
5 lattice corneal dystrophy type ii 12.6
6 corneal dystrophy, lattice type iiia 12.3
7 amyloidosis, finnish type 12.2
8 familial amyloidosis, finnish type 11.4
9 amyloidosis 10.4
10 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 10.1
11 polyneuropathy 10.1
12 facial paralysis 10.0 GSN TGFB1
13 blood group, i system 10.0
14 aging 10.0
15 cataract 10.0
16 juvenile glaucoma 10.0
17 choroiditis 10.0
18 autonomic neuropathy 10.0
19 recurrent corneal erosion 10.0
20 corneal degeneration 10.0
21 kidney disease 10.0
22 neuropathy 10.0
23 polycystic kidney disease 10.0
24 corneal disease 9.8 GSN TACSTD2 TGFBI
25 camurati-engelmann disease 9.8 TGFB1 TGIF1
26 epithelial and subepithelial dystrophy 9.8 TACSTD2 TBCD TGFBI
27 corneal dystrophy, reis-bucklers type 9.8 TACSTD2 TBCD TGFBI
28 burn scar 9.7 FAS TGFB1
29 keloids 9.6 FAS TGFB1
30 silicosis 9.6 FAS TGFB1
31 hereditary hemorrhagic telangiectasia 9.5 TGFB1 TGIF1
32 pneumoconiosis 9.5 FAS TGFB1
33 corneal dystrophy, thiel-behnke type 9.5 GSN TACSTD2 TBCD TGFBI
34 epithelial basement membrane dystrophy 9.2 FAS TBCD TGFB1 TGFBI
35 epithelial-stromal tgfbi dystrophy 8.9 FAS GSN TACSTD2 TBCD 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 FAS GSN TACSTD2 TGFB1 TGFBI TGIF1
2 homeostasis/metabolism MP:0005376 9.63 FAS GSN TACSTD2 TGFB1 TGFBI TGIF1
3 neoplasm MP:0002006 9.26 FAS TACSTD2 TGFB1 TGFBI
4 respiratory system MP:0005388 8.92 FAS GSN TGFB1 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:

38
Eye, Kidney

Publications for Lattice Corneal Dystrophy

Articles related to Lattice Corneal Dystrophy:

(show top 50) (show all 133)
# Title Authors Year
1
The Changing Face of Aging: Highly Sulfated Glycosaminoglycans Induce Amyloid Formation in a Lattice Corneal Dystrophy Model Protein. ( 28739480 )
2017
2
Unilateral lattice corneal dystrophy in a young female: A unique case report. ( 29022958 )
2017
3
Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy. ( 28393022 )
2017
4
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
5
Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients. ( 28381645 )
2017
6
Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type. ( 28250773 )
2017
7
Transforming growth factor I^ induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy. ( 29085627 )
2017
8
Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation in TGFBI. ( 27163623 )
2016
9
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. ( 27028151 )
2016
10
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene. ( 27402970 )
2016
11
Epigallocatechin Gallate Remodels Fibrils of Lattice Corneal Dystrophy Protein, Facilitating Proteolytic Degradation and Preventing Formation of Membrane-Permeabilizing Species. ( 27042751 )
2016
12
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. ( 25321938 )
2014
13
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
14
Persistent staining of lattice lines after intraoperative trypan blue use in patients with lattice corneal dystrophy. ( 25255137 )
2014
15
Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. ( 24302499 )
2014
16
Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene. ( 24473223 )
2014
17
Lattice corneal dystrophy type 1: an epithelial or stromal entity? ( 25055147 )
2014
18
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. ( 24425855 )
2014
19
Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome). ( 25741526 )
2014
20
A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene. ( 24505203 )
2014
21
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. ( 23455751 )
2013
22
Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype. ( 24579556 )
2013
23
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
24
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. ( 22080335 )
2012
25
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. ( 21835759 )
2011
26
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. ( 20974628 )
2011
27
Unique TGFBI protein in lattice corneal dystrophy. ( 21948648 )
2011
28
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
29
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. ( 21743312 )
2011
30
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. ( 20161820 )
2010
31
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality. ( 21191728 )
2010
32
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. ( 20357204 )
2010
33
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
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
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. ( 19956413 )
2009
36
Corneal melt in lattice corneal dystrophy type II after cataract surgery. ( 19101443 )
2009
37
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. ( 19461933 )
2009
38
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. ( 19092416 )
2009
39
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). ( 19190930 )
2009
40
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). ( 19832730 )
2009
41
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. ( 18332318 )
2008
42
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. ( 18615206 )
2008
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
Delayed epithelial healing after keratoplasty for lattice corneal dystrophy. ( 18043172 )
2007
47
A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. ( 17317389 )
2007
48
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. ( 17893671 )
2007
49
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. ( 17534828 )
2007
50
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. ( 17765440 )
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:

36
# 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 lateral plasma membrane GO:0016328 8.62 TACSTD2 TBCD

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

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.54 TACSTD2 TGFB1 TGFBI
2 wound healing GO:0042060 9.43 GSN TGFB1
3 cellular response to mechanical stimulus GO:0071260 9.4 FAS TGFB1
4 cellular response to growth factor stimulus GO:0071363 9.32 TGFB1 TGIF1
5 extrinsic apoptotic signaling pathway GO:0097191 9.26 FAS TGFB1
6 chondrocyte differentiation GO:0002062 9.16 TGFB1 TGFBI
7 oligodendrocyte development GO:0014003 8.96 GSN TGFB1
8 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
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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