MCID: LTT001
MIFTS: 33

Lattice Corneal Dystrophy malady

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

Aliases & Classifications for Lattice Corneal Dystrophy

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Aliases & Descriptions for Lattice Corneal Dystrophy:

Name: Lattice Corneal Dystrophy 11 13 48
Familial Amyloid Neuropathy, Finnish Type 11
 
Familial Amyloid Polyneuropathy, Type V 66

Classifications:



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Disease Ontology11 DOID:8943
MeSH37 C537935

Summaries for Lattice Corneal Dystrophy

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Wikipedia:69 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, 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 are Coregulation of Androgen receptor activity and IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types. Affiliated tissues include eye and kidney, and related mouse phenotypes are neoplasm and cellular.

Related Diseases for Lattice Corneal Dystrophy

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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)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, gelatinous drop-like32.5GSN, TACSTD2, TGFBI
2corneal dystrophy, avellino type32.1TACSTD2, TBCD, TGFBI
3corneal dystrophy, lattice type iiia31.7TBCD, TGFBI, TGIF1
4lattice corneal dystrophy type ii12.5
5corneal dystrophy, lattice type i12.0
6amyloidosis, finnish type11.7
7familial amyloidosis, finnish type11.3
8corneal dystrophy11.1
9amyloidosis10.5
10polyneuropathy10.2
11urinary schistosomiasis10.1GSN, TGFB1
12lower gum cancer10.1GSN, TGFBI
13cerebral artery occlusion10.0TACSTD2, TGFBI
14calpainopathy10.0FAS, TGFB1
15cataract10.0
16juvenile glaucoma10.0
17choroiditis10.0
18autonomic neuropathy10.0
19recurrent corneal erosion10.0
20corneal degeneration10.0
21kidney disease10.0
22neuropathy10.0
23polycystic kidney disease10.0
24sinusitis9.9FAS, TGFB1
25lipodystrophy, familial partial, type 69.9TGFB1, TGIF1
26acute serous otitis media9.9GSN, TACSTD2, TGFBI
27retinal drusen9.8GSN, TACSTD2, TGFBI
28epidemic typhus9.8TGFB1, TGIF1
29corneal dystrophy, reis-bucklers type9.8GSN, TGFBI, TGIF1
30asbestosis9.7FAS, TGFB1
31eczematous dermatitis of eyelid9.5FAS, TGFB1
32stromal dystrophy9.5TACSTD2, TBCD, TGFBI
33desbuquois dysplasia9.5FAS, TBCD, TGFBI
34corneal dystrophy, epithelial basement membrane9.1GSN, TACSTD2, TBCD, TGFBI
35endothelial dystrophy8.6FAS, GSN, TACSTD2, TBCD, TGFBI
36sideroblastic anemia7.5FAS, GSN, TACSTD2, TBCD, TGFB1, TGFBI

Graphical network of the top 20 diseases related to Lattice Corneal Dystrophy:



Diseases related to lattice corneal dystrophy

Symptoms for Lattice Corneal Dystrophy

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Drugs & Therapeutics for Lattice Corneal Dystrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lattice Corneal Dystrophy

Genetic Tests for Lattice Corneal Dystrophy

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Anatomical Context for Lattice Corneal Dystrophy

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MalaCards organs/tissues related to Lattice Corneal Dystrophy:

34
Eye, Kidney

Animal Models for Lattice Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Lattice Corneal Dystrophy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6FAS, TACSTD2, TGFB1, TGFBI
2MP:00053847.7FAS, GSN, TACSTD2, TGFB1, TGFBI, TGIF1
3MP:00053767.6FAS, GSN, TACSTD2, TGFB1, TGFBI, TGIF1

Publications for Lattice Corneal Dystrophy

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Articles related to Lattice Corneal Dystrophy:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. (23455751)
2013
2
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. (21835759)
2011
3
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. (21743312)
2011
4
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. (20974628)
2011
5
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. (20161820)
2010
6
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. (20458218)
2010
7
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3). (20806046)
2010
8
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. (19956413)
2009
9
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. (18332318)
2008
10
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. (18470323)
2008
11
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. (18385782)
2008
12
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. (17893671)
2007
13
A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. (17317389)
2007
14
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. (17765440)
2007
15
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. (17001192)
2006
16
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. (16809844)
2006
17
Excimer laser phototherapeutic keratectomy for granular and lattice corneal dystrophy: a comparative study. (16329366)
2005
18
First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. (16329070)
2005
19
Penetrating limbo-keratoplasty for granular and lattice corneal dystrophy: survival of donor limbal stem cells and intermediate-term clinical results. (15288983)
2004
20
Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. (15183802)
2004
21
Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I]. (15499271)
2004
22
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. (15531312)
2004
23
Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene]. (15559315)
2004
24
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. (12770961)
2003
25
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. (14597039)
2003
26
R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1. (11741113)
2001
27
Triple anterior chamber after full-thickness lamellar keratoplasty for lattice corneal dystrophy. (11413412)
2001
28
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. (10682981)
2000
29
Lattice corneal dystrophy. (10964807)
2000
30
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. (10798644)
2000
31
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. (10328397)
1999
32
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. (9886734)
1998
33
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. (9657906)
1998
34
Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca. (9559741)
1998
35
Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]. (9592740)
1998
36
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. (7783175)
1995
37
Granular-lattice corneal dystrophy. (8053808)
1994
38
Idiopathic AA amyloidosis manifested by autonomic neuropathy, vestibulocochleopathy, and lattice corneal dystrophy. (8201343)
1994
39
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. (8145387)
1993
40
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. (1319113)
1992
41
Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations. (2003794)
1991
42
Juxtapapillary choroidal neovascular membrane in a patient with Paget's disease and lattice corneal dystrophy. (2477432)
1989
43
Recurrence of the clinical signs of lattice corneal dystrophy (type I) in corneal transplants. (6364818)
1984
44
Lack of evidence for protein AA reactivity in amyloid deposits of lattice corneal dystrophy and amyloid corneal degeneration. (6383050)
1984
45
Recurrence of lattice corneal dystrophy type 1 in the corneal grafts of two siblings. (6753590)
1982
46
Diagnosis of early lattice corneal dystrophy. (6979328)
1982
47
Corneal elastosis in lattice corneal dystrophy: a clinicopathologic report. (6172764)
1981
48
Adult polycystic kidney disease and lattice corneal dystrophy: occurrence in a single family. (307373)
1978
49
Primary familial corneal amyloidosis (lattice corneal dystrophy). (5298242)
1967
50
Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea. (4163628)
1967

Variations for Lattice Corneal Dystrophy

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Expression for genes affiliated with Lattice Corneal Dystrophy

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Search GEO for disease gene expression data for Lattice Corneal Dystrophy.

Pathways for genes affiliated with Lattice Corneal Dystrophy

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GO Terms for genes affiliated with Lattice Corneal Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:00301419.9FAS, TGFB1
2lateral plasma membraneGO:00163289.2TACSTD2, TBCD
3extracellular spaceGO:00056157.9FAS, GSN, TACSTD2, TGFB1, TGFBI

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1oligodendrocyte developmentGO:001400310.1GSN, TGFB1
2chondrocyte differentiationGO:000206210.0TGFB1, TGFBI
3extrinsic apoptotic signaling pathwayGO:009719110.0FAS, TGFB1
4liver regenerationGO:00974219.9FAS, TGFB1
5T cell homeostasisGO:00430299.9FAS, TGFB1
6cellular response to mechanical stimulusGO:00712609.9FAS, TGFB1
7hepatocyte apoptotic processGO:00972849.7FAS, GSN
8cellular response to growth factor stimulusGO:00713639.6TGFB1, TGIF1
9agingGO:00075689.2FAS, GSN, TGFB1
10cell proliferationGO:00082839.1TACSTD2, TGFB1, TGFBI
11response to drugGO:00424938.8FAS, TGFB1, TGIF1

Sources for Lattice Corneal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet