MCID: LTT001
MIFTS: 44

Lattice Corneal Dystrophy malady

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

Summaries for Lattice Corneal Dystrophy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

MalaCards: 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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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH
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Classifications:

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


Aliases & Descriptions:

lattice corneal dystrophy 9 11 46
familial amyloid neuropathy, finnish type 9
familial amyloid polyneuropathy, type v 63


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Disease Ontology9 DOID:8943
MeSH36 C537935

Related Diseases for Lattice Corneal Dystrophy

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Sources:
18GeneCards, 19GeneDecks
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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 39)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.9TACSTD2, GSN, TGIF1, TGFBI
2lattice corneal dystrophy type 131.2TGFBI, TGIF1, GSN
3corneal dystrophy avellino type31.0TGFBI, TGIF1
4amyloidosis corneal30.4TACSTD2, GSN, TGFBI
5lattice corneal dystrophy type ii10.9
6amyloidosis10.7
7lattice corneal dystrophy type 3a10.6
8finnish type amyloidosis10.5
9polyneuropathy10.4
10familial amyloidosis, finnish type10.4
11juvenile glaucoma10.3
12polycystic kidney disease10.3
13recurrent corneal erosion10.3
14choroiditis10.3
15autonomic neuropathy10.3
16cataract10.3
17corneal degeneration10.3
18glaucoma10.3
19kidney disease10.3
20neuropathy10.3
21corneal disease10.1TGFBI, GSN
22amyloid tumor10.1GSN, TGFBI
23keratoconus10.1GSN, TGFBI
24corneal granular dystrophy10.0H3F3C, TBCD
25camurati-engelmann disease10.0TGFB1, TGIF1
26biliary atresia10.0TGFB1, TGIF1
27idiopathic pulmonary fibrosis10.0TGFB1, GSN
28pulmonary fibrosis10.0TGFB1, TGIF1
29hepatitis c10.0TGIF1, TGFB1
30diabetic nephropathy10.0TGFB1, TGIF1
31primary hyperoxaluria10.0TGIF1, TGFB1, GSN
32asthma9.9GSN, TGFB1, TGIF1
33pancreatic cancer9.9TGIF1, TGFB1, TACSTD2
34breast cancer9.9GSN, TGFB1, TGIF1
35ovarian cancer9.9TGIF1, TGFB1, GSN
36glomerulonephritis9.9TGFB1, TGIF1
37colorectal cancer9.9TGFBI, TGFB1, GSN
38leukemia9.9TGFBI, TGIF1, TGFB1, GSN
39adenocarcinoma9.9TGFBI, 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Lattice Corneal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Lattice Corneal Dystrophy

Search NIH Clinical Center for Lattice Corneal Dystrophy

Search CenterWatch for Lattice Corneal Dystrophy

Genetic Tests for Lattice Corneal Dystrophy

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Anatomical Context for Lattice Corneal Dystrophy

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34MalaCards
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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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38MGI
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MGI Mouse Phenotypes related to Lattice Corneal Dystrophy:

38
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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53PubMed
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Articles related to Lattice Corneal Dystrophy:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. (24425855)
2014
2
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. (23455751)
2013
3
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
4
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. (22080335)
2012
5
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. (21617530)
2011
6
Unique TGFBI protein in lattice corneal dystrophy. (21948648)
2011
7
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. (21835759)
2011
8
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. (20161820)
2010
9
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. (20458218)
2010
10
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). (19832730)
2009
11
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. (19461933)
2009
12
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). (19190930)
2009
13
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. (17893671)
2007
14
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. (17001192)
2006
15
Delayed corneal epithelial wound healing after penetrating keratoplasty in individuals with lattice corneal dystrophy. (16815275)
2006
16
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. (17013691)
2006
17
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. (16541014)
2006
18
Excimer laser phototherapeutic keratectomy for granular and lattice corneal dystrophy: a comparative study. (16329366)
2005
19
Molecular genetic study on patients with lattice corneal dystrophy in China]. (16008913)
2005
20
First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. (16329070)
2005
21
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. (15790870)
2005
22
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. (15838722)
2005
23
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)
2004
24
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. (15013897)
2004
25
Lattice corneal dystrophy. (15693341)
2004
26
Penetrating limbo-keratoplasty for granular and lattice corneal dystrophy: survival of donor limbal stem cells and intermediate-term clinical results. (15288983)
2004
27
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. (12586172)
2003
28
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. (12400061)
2002
29
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
30
Gelatino-lattice corneal dystrophy: clinical features and mutational analysis. (10844062)
2000
31
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. (10682981)
2000
32
Lattice corneal dystrophy. (10964807)
2000
33
Confocal microscopy in lattice corneal dystrophy. (10459621)
1999
34
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. (10218700)
1999
35
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. (9787234)
1998
36
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. (9886734)
1998
37
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. (9657906)
1998
38
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
39
Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]. (9592740)
1998
40
Lattice corneal dystrophy: epithelial macroerosions in clear corneal grafts. (9676921)
1998
41
Granular-lattice corneal dystrophy. (8053808)
1994
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
Recurrence of lattice corneal dystrophy type 1 in the corneal grafts of two siblings. (6753590)
1982
45
Diagnosis of early lattice corneal dystrophy. (6979328)
1982
46
Lattice corneal dystrophy. Report of an unusual case. (300621)
1977
47
Lattice corneal dystrophy. (779730)
1976
48
Comparative histopathological and clinical findings in eyes with lattice corneal dystrophy of two different types. (4115977)
1972
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 39NCBI BioSystems Database, 5Cell Signaling Technology, 56Reactome, 31KEGG
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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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46Novoseek, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1cmdb7469.6TGFB1, TGIF1
24-hydroxytamoxifen469.5TGFB1, TGIF1
3procollagen469.4TGFB1, TGIF1
4tgf beta1469.3TGFB1, TGIF1
51,25 dihydroxy vitamin d3469.2TGIF1, TGFB1
6cytochalasin d46 6210.1GSN, TGFB1, TGIF1
7dihydrotestosterone46 30 25 1212.1TGIF1, TGFB1, GSN
8vitamin d469.1GSN, TGFB1, TGIF1
9oligonucleotide468.9GSN, TGFB1, TGIF1
10alanine468.7TACSTD2, GSN, TGFB1
11serine468.7TGFBI, TGIF1, TGFB1, GSN

GO Terms for genes affiliated with Lattice Corneal Dystrophy

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17Gene Ontology
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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
  • Antibodies

Sources for Lattice Corneal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet