MCID: LTT001
MIFTS: 32

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 52 14
Familial Amyloid Neuropathy, Finnish Type 12
Familial Amyloid Polyneuropathy, Type V 69

Classifications:



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Disease Ontology 12 DOID:8943
MeSH 42 C537935

Summaries for Lattice Corneal Dystrophy

MalaCards based summary : Lattice Corneal Dystrophy, also known as familial amyloid neuropathy, finnish type, is related to corneal dystrophy, gelatinous drop-like 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 TGF-beta signaling pathway (KEGG) and TGF-beta Receptor Signaling (WikiPathways). 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 36)
id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, gelatinous drop-like 32.7 GSN TACSTD2 TGFBI
2 corneal dystrophy, avellino type 32.5 TACSTD2 TBCD TGFBI
3 corneal dystrophy, lattice type iiia 32.4 TBCD TGFBI TGIF1
4 lattice corneal dystrophy type ii 12.5
5 corneal dystrophy, lattice type i 12.0
6 amyloidosis, finnish type 11.7
7 familial amyloidosis, finnish type 11.2
8 corneal dystrophy 10.9
9 amyloidosis 10.4
10 benign paroxysmal positional nystagmus 10.0 GSN TGFB1
11 polyneuropathy 10.0
12 cataract 9.9
13 juvenile glaucoma 9.9
14 choroiditis 9.9
15 autonomic neuropathy 9.9
16 recurrent corneal erosion 9.9
17 corneal degeneration 9.9
18 kidney disease 9.9
19 neuropathy 9.9
20 polycystic kidney disease 9.9
21 acute allergic serous otitis media 9.8 GSN TACSTD2 TGFBI
22 otosclerosis 4 9.8 GSN TACSTD2 TGFBI
23 stromal dystrophy 9.8 TACSTD2 TBCD TGFBI
24 cerebral artery occlusion 9.8 GSN TACSTD2 TGFBI
25 corneal dystrophy, reis-bucklers type 9.8 GSN TGFBI TGIF1
26 hypoinsulinemic hypoglycemia with hemihypertrophy 9.7 TGFB1 TGIF1
27 holoprosencephaly 9.7 TGFB1 TGIF1
28 cartilage disease 9.7 FAS TGFB1
29 keratopathy 9.6 FAS TGFB1
30 sinusitis 9.4 FAS TGFB1
31 corneal dystrophy, epithelial basement membrane 9.4 GSN TACSTD2 TBCD TGFBI
32 malignant histiocytic disease 9.2 GSN TACSTD2 TGFBI TGIF1
33 asbestosis 9.2 FAS TGFB1
34 desbuquois dysplasia 8.9 FAS TBCD TGFB1 TGFBI
35 epithelial basement membrane dystrophy 8.6 FAS GSN TACSTD2 TBCD TGFBI
36 cowpox 7.4 FAS GSN TACSTD2 TBCD TGFB1 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:

44
id 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:

39
Eye, Kidney

Publications for Lattice Corneal Dystrophy

Articles related to Lattice Corneal Dystrophy:

(show top 50) (show all 131)
id Title Authors Year
1
Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type. ( 28250773 )
2017
2
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
3
Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients. ( 28381645 )
2017
4
The Changing Face of Aging: Highly Sulfated Glycosaminoglycans Induce Amyloid Formation in a Lattice Corneal Dystrophy Model Protein. ( 28739480 )
2017
5
Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy. ( 28393022 )
2017
6
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene. ( 27402970 )
2016
7
Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation in TGFBI. ( 27163623 )
2016
8
Epigallocatechin Gallate Remodels Fibrils of Lattice Corneal Dystrophy Protein, Facilitating Proteolytic Degradation and Preventing Formation of Membrane-Permeabilizing Species. ( 27042751 )
2016
9
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. ( 27028151 )
2016
10
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
11
Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome). ( 25741526 )
2014
12
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. ( 25321938 )
2014
13
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. ( 24425855 )
2014
14
A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene. ( 24505203 )
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
Persistent staining of lattice lines after intraoperative trypan blue use in patients with lattice corneal dystrophy. ( 25255137 )
2014
19
Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype. ( 24579556 )
2013
20
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
21
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. ( 23455751 )
2013
22
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. ( 22080335 )
2012
23
Unique TGFBI protein in lattice corneal dystrophy. ( 21948648 )
2011
24
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. ( 20974628 )
2011
25
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
26
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. ( 21835759 )
2011
27
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. ( 21743312 )
2011
28
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3). ( 20806046 )
2010
29
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
30
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality. ( 21191728 )
2010
31
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. ( 20161820 )
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
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). ( 19832730 )
2009
34
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. ( 19092416 )
2009
35
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. ( 19461933 )
2009
36
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). ( 19190930 )
2009
37
Corneal melt in lattice corneal dystrophy type II after cataract surgery. ( 19101443 )
2009
38
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. ( 19956413 )
2009
39
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. ( 18385782 )
2008
40
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. ( 18615206 )
2008
41
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. ( 18332318 )
2008
42
A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. ( 18303168 )
2008
43
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. ( 18470323 )
2008
44
A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. ( 17317389 )
2007
45
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. ( 17765440 )
2007
46
Delayed epithelial healing after keratoplasty for lattice corneal dystrophy. ( 18043172 )
2007
47
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. ( 17534828 )
2007
48
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. ( 17893671 )
2007
49
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. ( 16541014 )
2006
50
Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene. ( 16453189 )
2006

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

GO Terms for Lattice Corneal Dystrophy

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.61 TACSTD2 TGFB1 TGFBI
2 wound healing GO:0042060 9.48 GSN TGFB1
3 cellular response to mechanical stimulus GO:0071260 9.46 FAS TGFB1
4 cellular response to growth factor stimulus GO:0071363 9.4 TGFB1 TGIF1
5 extrinsic apoptotic signaling pathway GO:0097191 9.37 FAS TGFB1
6 chondrocyte differentiation GO:0002062 9.32 TGFB1 TGFBI
7 T cell homeostasis GO:0043029 9.26 FAS TGFB1
8 oligodendrocyte development GO:0014003 9.16 GSN TGFB1
9 hepatocyte apoptotic process GO:0097284 8.96 FAS GSN
10 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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