MCID: LTT001
MIFTS: 33

Lattice Corneal Dystrophy malady

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

Aliases & Classifications for Lattice Corneal Dystrophy

Aliases & Descriptions 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, avellino type and corneal dystrophy, lattice type iiia. 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 : 71 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 40)
id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 32.8 GSN TGFBI TGIF1
2 corneal dystrophy, lattice type iiia 32.6 TACSTD2 TBCD TGFBI
3 lattice corneal dystrophy type ii 12.5
4 corneal dystrophy, lattice type i 12.0
5 corneal dystrophy, gelatinous drop-like 11.8
6 amyloidosis, finnish type 11.8
7 familial amyloidosis, finnish type 11.3
8 corneal dystrophy 10.9
9 amyloidosis 10.4
10 benign paroxysmal positional nystagmus 10.1 GSN TGFB1
11 polyneuropathy 10.0
12 cartilage disease 10.0 FAS TGFB1
13 leber congenital amaurosis 10.0 FAS TGFB1
14 chromosome 1p32-p31 deletion syndrome 10.0 GSN TACSTD2 TGFBI
15 ciliary dyskinesia, primary, 5 10.0 GSN TACSTD2 TGFBI
16 desbuquois dysplasia 10.0 GSN TACSTD2 TGFBI
17 venous insufficiency 10.0 GSN TACSTD2 TGFBI
18 lipodystrophy, familial partial, type 6 10.0 TGFB1 TGIF1
19 noninfectious dermatoses of eyelid 10.0 FAS TGFB1
20 atrophic vulva 9.9 TGFB1 TGIF1
21 endemic typhus 9.9 TGFB1 TGIF1
22 skin conditions 9.9 FAS TGFB1
23 cataract 9.9
24 juvenile glaucoma 9.9
25 choroiditis 9.9
26 autonomic neuropathy 9.9
27 recurrent corneal erosion 9.9
28 corneal degeneration 9.9
29 kidney disease 9.9
30 neuropathy 9.9
31 polycystic kidney disease 9.9
32 baritosis 9.8 FAS TGFB1
33 corneal endothelial dystrophy 9.8 TACSTD2 TBCD TGFBI
34 nut midline carcinoma 9.8 FAS TBCD TGFBI
35 myopathy, myofibrillar, 3 9.8 FAS TBCD TGFBI
36 corneal dystrophy, thiel-behnke type 9.8 TBCD TGFBI TGIF1
37 malignant histiocytic disease 9.8 GSN TACSTD2 TGFBI TGIF1
38 muscular dystrophy, limb-girdle, type 1a 9.7 GSN TACSTD2 TBCD TGFBI
39 epithelial basement membrane dystrophy 9.5 FAS GSN TACSTD2 TBCD TGFBI
40 cervix uteri carcinoma in situ 9.0 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 TGIF1 FAS GSN TACSTD2 TGFB1 TGFBI
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 126)
id Title Authors Year
1
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene. ( 27402970 )
2016
2
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. ( 27028151 )
2016
3
Epigallocatechin Gallate Remodels Fibrils of Lattice Corneal Dystrophy Protein, Facilitating Proteolytic Degradation and Preventing Formation of Membrane-Permeabilizing Species. ( 27042751 )
2016
4
Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation in TGFBI. ( 27163623 )
2016
5
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
6
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. ( 25321938 )
2014
7
Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome). ( 25741526 )
2014
8
A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene. ( 24505203 )
2014
9
Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene. ( 24473223 )
2014
10
Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. ( 24302499 )
2014
11
Persistent staining of lattice lines after intraoperative trypan blue use in patients with lattice corneal dystrophy. ( 25255137 )
2014
12
Lattice corneal dystrophy type 1: an epithelial or stromal entity? ( 25055147 )
2014
13
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. ( 24425855 )
2014
14
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. ( 23455751 )
2013
15
Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype. ( 24579556 )
2013
16
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
17
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. ( 22080335 )
2012
18
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. ( 21743312 )
2011
19
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
20
Unique TGFBI protein in lattice corneal dystrophy. ( 21948648 )
2011
21
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. ( 20974628 )
2011
22
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. ( 21835759 )
2011
23
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. ( 20161820 )
2010
24
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. ( 20357204 )
2010
25
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality. ( 21191728 )
2010
26
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3). ( 20806046 )
2010
27
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
28
Corneal melt in lattice corneal dystrophy type II after cataract surgery. ( 19101443 )
2009
29
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. ( 19092416 )
2009
30
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. ( 19461933 )
2009
31
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. ( 19956413 )
2009
32
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). ( 19832730 )
2009
33
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). ( 19190930 )
2009
34
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. ( 18385782 )
2008
35
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. ( 18332318 )
2008
36
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. ( 18470323 )
2008
37
A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. ( 18303168 )
2008
38
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. ( 18615206 )
2008
39
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. ( 17765440 )
2007
40
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. ( 17893671 )
2007
41
A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. ( 17317389 )
2007
42
Delayed epithelial healing after keratoplasty for lattice corneal dystrophy. ( 18043172 )
2007
43
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. ( 17534828 )
2007
44
Delayed corneal epithelial wound healing after penetrating keratoplasty in individuals with lattice corneal dystrophy. ( 16815275 )
2006
45
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. ( 17001192 )
2006
46
An atypical presentation of lattice corneal dystrophy in a patient with juvenile glaucoma. ( 16167073 )
2006
47
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. ( 16541014 )
2006
48
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. ( 17013691 )
2006
49
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. ( 16809844 )
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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