MCID: LTT001
MIFTS: 45

Lattice Corneal Dystrophy malady

Genetic diseases, Eye diseases, Neuronal diseases, Rare diseases categories
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Summaries for Lattice Corneal Dystrophy

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Wikipedia:65 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 and lattice corneal dystrophy type 1. An important gene associated with Lattice Corneal Dystrophy is TGFBI (transforming growth factor, beta-induced, 68kDa), and among its related pathways are Coregulation of Androgen receptor activity and TGF-beta/Smad Signaling. The compounds cmdb7 and 4-hydroxytamoxifen have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related mouse phenotypes are mortality/aging and cellular.

Aliases & Classifications for Lattice Corneal Dystrophy

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Lattice Corneal Dystrophy, Aliases & Descriptions:

Name: Lattice Corneal Dystrophy 8 10 44
Familial Amyloid Neuropathy, Finnish Type 8
 
Familial Amyloid Polyneuropathy, Type V 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases


External Ids:

Disease Ontology8 DOID:8943
MeSH34 C537935

Related Diseases for Lattice Corneal Dystrophy

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Diseases in the Lattice Corneal Dystrophy Type 1 family:

lattice corneal dystrophy Lattice Corneal Dystrophy Type 3a
Lattice Corneal Dystrophy Type Ii

Diseases related to Lattice Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.7TGIF1, TGFBI, GSN, TACSTD2
2lattice corneal dystrophy type 131.4TGFBI, GSN, TGIF1
3corneal dystrophy avellino type31.4TGFBI, TGIF1
4amyloidosis corneal30.8GSN, TGFBI, TACSTD2
5lattice corneal dystrophy type ii11.0
6amyloidosis10.8
7lattice corneal dystrophy type 3a10.6
8finnish type amyloidosis10.5
9familial amyloidosis, finnish type10.5
10polyneuropathy10.4
11cataract10.3
12juvenile glaucoma10.3
13polycystic kidney disease10.3
14recurrent corneal erosion10.3
15choroiditis10.3
16autonomic neuropathy10.3
17corneal degeneration10.3
18kidney disease10.3
19neuropathy10.3
20corneal disease10.3GSN, TGFBI
21amyloid tumor10.2GSN, TGFBI
22keratoconus10.2TGFBI, GSN
23corneal granular dystrophy10.1H3F3C, TBCD
24camurati-engelmann disease10.0TGIF1, TGFB1
25biliary atresia10.0TGFB1, TGIF1
26idiopathic pulmonary fibrosis10.0GSN, TGFB1
27pulmonary fibrosis9.9TGFB1, TGIF1
28hepatitis c9.9TGFB1, TGIF1
29diabetic nephropathy9.9TGFB1, TGIF1
30primary hyperoxaluria9.8GSN, TGFB1, TGIF1
31asthma9.8TGIF1, GSN, TGFB1
32pancreatic cancer9.8TACSTD2, TGFB1, TGIF1
33breast cancer9.8TGIF1, GSN, TGFB1
34ovarian cancer9.8TGFB1, GSN, TGIF1
35glomerulonephritis9.8TGIF1, TGFB1
36colorectal cancer9.7GSN, TGFB1, TGFBI
37leukemia9.7TGFBI, GSN, TGFB1, TGIF1
38adenocarcinoma9.5TGFBI, TGIF1, TACSTD2, TGFB1, GSN

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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Drug clinical trials:

Search ClinicalTrials for Lattice Corneal Dystrophy

Search 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:

32
Eye, Kidney

Animal Models for Lattice Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Lattice Corneal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.1TACSTD2, GSN, TGFB1, TGIF1, TGFBI
2MP:00053848.0TACSTD2, GSN, TGFB1, TGIF1, TGFBI
3MP:00053767.8TGFBI, TGIF1, TGFB1, GSN, TACSTD2

Publications for Lattice Corneal Dystrophy

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Articles related to Lattice Corneal Dystrophy:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. (25321938)
2014
2
Lattice corneal dystrophy type 1: an epithelial or stromal entity? (25055147)
2014
3
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. (24425855)
2014
4
Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene. (24473223)
2014
5
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. (23455751)
2013
6
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
7
Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype. (24579556)
2013
8
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. (22080335)
2012
9
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. (21617530)
2011
10
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. (21835759)
2011
11
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. (20161820)
2010
12
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. (20458218)
2010
13
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). (19832730)
2009
14
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. (19461933)
2009
15
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). (19190930)
2009
16
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. (17893671)
2007
17
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. (17001192)
2006
18
Delayed corneal epithelial wound healing after penetrating keratoplasty in individuals with lattice corneal dystrophy. (16815275)
2006
19
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. (17013691)
2006
20
Excimer laser phototherapeutic keratectomy for granular and lattice corneal dystrophy: a comparative study. (16329366)
2005
21
Molecular genetic study on patients with lattice corneal dystrophy in China]. (16008913)
2005
22
First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. (16329070)
2005
23
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. (15790870)
2005
24
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)
2004
25
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. (15013897)
2004
26
Lattice corneal dystrophy. (15693341)
2004
27
Penetrating limbo-keratoplasty for granular and lattice corneal dystrophy: survival of donor limbal stem cells and intermediate-term clinical results. (15288983)
2004
28
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. (12586172)
2003
29
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. (12400061)
2002
30
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
31
Gelatino-lattice corneal dystrophy: clinical features and mutational analysis. (10844062)
2000
32
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. (10682981)
2000
33
Lattice corneal dystrophy. (10964807)
2000
34
Confocal microscopy in lattice corneal dystrophy. (10459621)
1999
35
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. (10218700)
1999
36
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. (9787234)
1998
37
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. (9886734)
1998
38
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. (9657906)
1998
39
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
40
Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]. (9592740)
1998
41
Lattice corneal dystrophy: epithelial macroerosions in clear corneal grafts. (9676921)
1998
42
Granular-lattice corneal dystrophy. (8053808)
1994
43
Juxtapapillary choroidal neovascular membrane in a patient with Paget's disease and lattice corneal dystrophy. (2477432)
1989
44
Recurrence of the clinical signs of lattice corneal dystrophy (type I) in corneal transplants. (6364818)
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
Lattice corneal dystrophy. Report of an unusual case. (300621)
1977
48
Lattice corneal dystrophy. (779730)
1976
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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Expression patterns in normal tissues for genes affiliated with Lattice Corneal Dystrophy

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

Pathways for genes affiliated with Lattice Corneal Dystrophy

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Pathways related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5GSN, TGIF1
29.5TGFB1, TGFBI
39.4GSN, TGFB1
49.3TGIF1, TGFB1
5
Show member pathways
9.3TGIF1, TGFB1
6
Show member pathways
8.9TGFBI, GSN, H3F3C
78.5TGFB1, TGFBI, TGIF1, GSN

Compounds for genes affiliated with Lattice Corneal Dystrophy

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Sources:
44Novoseek, 61Tocris Bioscience, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1cmdb7449.6TGFB1, TGIF1
24-hydroxytamoxifen449.5TGFB1, TGIF1
3procollagen449.4TGFB1, TGIF1
4tgf beta1449.3TGFB1, TGIF1
51,25 dihydroxy vitamin d3449.2TGIF1, TGFB1
6cytochalasin d44 6110.1GSN, TGFB1, TGIF1
7dihydrotestosterone44 28 24 1112.1TGIF1, TGFB1, GSN
8vitamin d449.1GSN, TGFB1, TGIF1
9oligonucleotide448.9GSN, TGFB1, TGIF1
10alanine448.7TACSTD2, GSN, TGFB1
11serine448.7TGFBI, TGIF1, TGFB1, GSN

GO Terms for genes affiliated with Lattice Corneal Dystrophy

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Cellular components related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.4GSN, TGFB1
2lateral plasma membraneGO:0163289.2TACSTD2, TBCD

Biological processes related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:0020629.4TGFB1, TGFBI
2transforming growth factor beta receptor signaling pathwayGO:0071799.3TGFB1, TGIF1
3agingGO:0075689.1GSN, TGFB1

Products for genes affiliated with Lattice Corneal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Lattice Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet