MCID: LTT001
MIFTS: 38

Lattice Corneal Dystrophy malady

Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Lattice Corneal Dystrophy

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Lattice Corneal Dystrophy, Aliases & Descriptions:

Name: Lattice Corneal Dystrophy 9 11 43
Familial Amyloid Neuropathy, Finnish Type 9
 
Familial Amyloid Polyneuropathy, Type V 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:8943
MeSH33 C537935

Summaries for Lattice Corneal Dystrophy

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Wikipedia:63 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 corneal dystrophy, lattice type i. 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.

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 39)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.7TACSTD2, GSN, TGIF1, TGFBI
2corneal dystrophy, lattice type i31.4TGFBI, TGIF1, GSN
3corneal dystrophy, avellino type31.4TGFBI, TGIF1
4corneal dystrophy, gelatinous drop-like30.5TACSTD2, GSN, TGFBI
5lattice corneal dystrophy type ii11.0
6amyloidosis10.8
7corneal dystrophy, lattice type iiia10.6
8familial amyloidosis, finnish type10.5
9polyneuropathy10.4
10amyloidosis, primary localized cutaneous, 110.3
11amyloidosis, finnish type10.3
12cataract10.3
13juvenile glaucoma10.3
14polycystic kidney disease10.3
15recurrent corneal erosion10.3
16choroiditis10.3
17autonomic neuropathy10.3
18corneal degeneration10.3
19kidney disease10.3
20neuropathy10.3
21secondary amyloidosis10.3
22corneal disease10.2TGFBI, GSN
23keratoconus10.2GSN, TGFBI
24corneal granular dystrophy10.1H3F3C, TBCD
25camurati-engelmann disease10.0TGFB1, TGIF1
26pulmonary fibrosis, idiopathic10.0TGFB1, GSN
27biliary atresia10.0TGFB1, TGIF1
28pulmonary fibrosis9.9TGFB1, TGIF1
29hepatitis c9.9TGIF1, TGFB1
30microvascular complications of diabetes 39.9TGFB1, TGIF1
31primary hyperoxaluria9.8TGIF1, TGFB1, GSN
32asthma9.8GSN, TGFB1, TGIF1
33pancreatic cancer9.8TGIF1, TGFB1, TACSTD2
34breast cancer9.8GSN, TGFB1, TGIF1
35ovarian cancer, somatic9.7TGIF1, TGFB1, GSN
36glomerulonephritis9.7TGFB1, TGIF1
37colorectal cancer9.7TGFBI, TGFB1, GSN
38leukemia9.6TGFBI, TGIF1, TGFB1, GSN
39adenocarcinoma9.5TGFBI, TGIF1, TGFB1, GSN, TACSTD2

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:

31
Eye, Kidney

Animal Models for Lattice Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Lattice Corneal Dystrophy:

35
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 120)
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
Unique TGFBI protein in lattice corneal dystrophy. (21948648)
2011
11
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. (21835759)
2011
12
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. (20161820)
2010
13
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. (20458218)
2010
14
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). (19832730)
2009
15
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. (19461933)
2009
16
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). (19190930)
2009
17
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. (17893671)
2007
18
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. (17001192)
2006
19
Delayed corneal epithelial wound healing after penetrating keratoplasty in individuals with lattice corneal dystrophy. (16815275)
2006
20
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. (17013691)
2006
21
Excimer laser phototherapeutic keratectomy for granular and lattice corneal dystrophy: a comparative study. (16329366)
2005
22
Molecular genetic study on patients with lattice corneal dystrophy in China]. (16008913)
2005
23
First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. (16329070)
2005
24
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. (15790870)
2005
25
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)
2004
26
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. (15013897)
2004
27
Lattice corneal dystrophy. (15693341)
2004
28
Penetrating limbo-keratoplasty for granular and lattice corneal dystrophy: survival of donor limbal stem cells and intermediate-term clinical results. (15288983)
2004
29
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. (12586172)
2003
30
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. (12400061)
2002
31
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
32
Gelatino-lattice corneal dystrophy: clinical features and mutational analysis. (10844062)
2000
33
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. (10682981)
2000
34
Lattice corneal dystrophy. (10964807)
2000
35
Confocal microscopy in lattice corneal dystrophy. (10459621)
1999
36
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. (10218700)
1999
37
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. (9787234)
1998
38
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. (9886734)
1998
39
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. (9657906)
1998
40
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
41
Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]. (9592740)
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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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 Suite gene sharing:

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

Compounds for genes affiliated with Lattice Corneal Dystrophy

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Sources:
43Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

Compounds related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1cmdb7439.6TGFB1, TGIF1
24-hydroxytamoxifen439.5TGFB1, TGIF1
3procollagen439.4TGFB1, TGIF1
4tgf beta1439.3TGFB1, TGIF1
51,25 dihydroxy vitamin d3439.2TGIF1, TGFB1
6cytochalasin d43 5910.1GSN, TGFB1, TGIF1
7dihydrotestosterone43 28 24 1212.1TGIF1, TGFB1, GSN
8vitamin d439.1GSN, TGFB1, TGIF1
9oligonucleotide438.9GSN, TGFB1, TGIF1
10alanine438.7TACSTD2, GSN, TGFB1
11serine438.7TGFBI, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.4GSN, TGFB1
2lateral plasma membraneGO:00163289.2TACSTD2, TBCD

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

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.4TGFB1, TGFBI
2transforming growth factor beta receptor signaling pathwayGO:00071799.3TGFB1, TGIF1
3agingGO:00075689.1GSN, TGFB1

Products for genes affiliated with Lattice Corneal Dystrophy

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lattice Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet