MCID: LTT001
MIFTS: 33

Lattice Corneal Dystrophy malady

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

Aliases & Classifications for Lattice Corneal Dystrophy

About this section

Aliases & Descriptions for Lattice Corneal Dystrophy:

Name: Lattice Corneal Dystrophy 11 50 13
Familial Amyloid Neuropathy, Finnish Type 11
 
Familial Amyloid Polyneuropathy, Type V 68

Classifications:



External Ids:

Disease Ontology11 DOID:8943
MeSH39 C537935

Summaries for Lattice Corneal Dystrophy

About this section
Wikipedia:71 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

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 are Coregulation of Androgen receptor activity and TGF-beta signaling pathway (KEGG). Affiliated tissues include eye and kidney, and related mouse phenotypes are neoplasm and respiratory system.

Related Diseases for Lattice Corneal Dystrophy

About this section

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)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, avellino type32.8GSN, TGFBI, TGIF1
2corneal dystrophy, lattice type iiia32.6TACSTD2, TBCD, TGFBI
3lattice corneal dystrophy type ii12.5
4corneal dystrophy, lattice type i12.0
5corneal dystrophy, gelatinous drop-like11.8
6amyloidosis, finnish type11.8
7familial amyloidosis, finnish type11.3
8corneal dystrophy10.9
9amyloidosis10.4
10benign paroxysmal positional nystagmus10.1GSN, TGFB1
11polyneuropathy10.0
12cartilage disease10.0FAS, TGFB1
13leber congenital amaurosis10.0FAS, TGFB1
14chromosome 1p32-p31 deletion syndrome10.0GSN, TACSTD2, TGFBI
15ciliary dyskinesia, primary, 510.0GSN, TACSTD2, TGFBI
16desbuquois dysplasia10.0GSN, TACSTD2, TGFBI
17venous insufficiency10.0GSN, TACSTD2, TGFBI
18lipodystrophy, familial partial, type 610.0TGFB1, TGIF1
19noninfectious dermatoses of eyelid10.0FAS, TGFB1
20atrophic vulva9.9TGFB1, TGIF1
21endemic typhus9.9TGFB1, TGIF1
22skin conditions9.9FAS, TGFB1
23cataract9.9
24juvenile glaucoma9.9
25choroiditis9.9
26autonomic neuropathy9.9
27recurrent corneal erosion9.9
28corneal degeneration9.9
29kidney disease9.9
30neuropathy9.9
31polycystic kidney disease9.9
32baritosis9.8FAS, TGFB1
33corneal endothelial dystrophy9.8TACSTD2, TBCD, TGFBI
34nut midline carcinoma9.8FAS, TBCD, TGFBI
35myopathy, myofibrillar, 39.8FAS, TBCD, TGFBI
36corneal dystrophy, thiel-behnke type9.8TBCD, TGFBI, TGIF1
37malignant histiocytic disease9.8GSN, TACSTD2, TGFBI, TGIF1
38muscular dystrophy, limb-girdle, type 1a9.7GSN, TACSTD2, TBCD, TGFBI
39epithelial basement membrane dystrophy9.5FAS, GSN, TACSTD2, TBCD, TGFBI
40cervix uteri carcinoma in situ9.0FAS, 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

About this section

MGI Mouse Phenotypes related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.2FAS, TACSTD2, TGFB1, TGFBI
2MP:00053888.4FAS, GSN, TGFB1, TGIF1
3MP:00053848.4FAS, GSN, TACSTD2, TGFB1, TGFBI, TGIF1
4MP:00053768.3FAS, GSN, TACSTD2, TGFB1, TGFBI, TGIF1

Drugs & Therapeutics for Lattice Corneal Dystrophy

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lattice Corneal Dystrophy

Genetic Tests for Lattice Corneal Dystrophy

About this section

Anatomical Context for Lattice Corneal Dystrophy

About this section

MalaCards organs/tissues related to Lattice Corneal Dystrophy:

36
Eye, Kidney

Publications for Lattice Corneal Dystrophy

About this section

Articles related to Lattice Corneal Dystrophy:

(show top 50)    (show all 126)
idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Lattice Corneal Dystrophy

About this section
Search GEO for disease gene expression data for Lattice Corneal Dystrophy.

Pathways for genes affiliated with Lattice Corneal Dystrophy

About this section

GO Terms for genes affiliated with Lattice Corneal Dystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.2TACSTD2, TBCD

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1hepatocyte apoptotic processGO:009728410.1FAS, GSN
2positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:200126910.1FAS, GSN
3chondrocyte differentiationGO:000206210.1TGFB1, TGFBI
4oligodendrocyte developmentGO:001400310.0GSN, TGFB1
5cellular response to growth factor stimulusGO:007136310.0TGFB1, TGIF1
6cellular response to mechanical stimulusGO:00712609.9FAS, TGFB1
7extrinsic apoptotic signaling pathwayGO:00971919.9FAS, TGFB1
8T cell homeostasisGO:00430299.8FAS, TGFB1
9cell proliferationGO:00082839.7TACSTD2, TGFB1, TGFBI
10wound healingGO:00420609.4GSN, TGFB1

Sources for Lattice Corneal Dystrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet