MCID: LTT001
MIFTS: 36

Lattice Corneal Dystrophy malady

Neuronal diseases, Genetic diseases categories

Summaries for Lattice Corneal Dystrophy

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63Wikipedia, 32MalaCards
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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: 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 Packaging Of Telomere Ends and Coregulation of Androgen receptor activity. The compounds cmdb7 and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney.

Aliases & Classifications for Lattice Corneal Dystrophy

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH
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Classifications:

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


Aliases & Descriptions:

lattice corneal dystrophy 8 10 44
familial amyloid neuropathy, finnish type 8
familial amyloid polyneuropathy, type v 60


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Disease Ontology8 DOID:8943
MeSH34 C537935

Related Diseases for Lattice Corneal Dystrophy

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17GeneCards, 18GeneDecks
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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 41)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.8TGIF1, CHST6, TACSTD2, GSN, TGFBI
2lattice corneal dystrophy type 131.1TGIF1, TGFBI, GSN
3amyloidosis31.0GSN
4corneal granular dystrophy31.0H3F3C, TBCD
5corneal dystrophy avellino type30.7TGFBI, TGIF1
6corneal disease30.5TGFBI, GSN, CHST6
7recurrent corneal erosion30.3TGFBI
8lattice corneal dystrophy type ii10.8
9corneal deposit10.6
10lattice corneal dystrophy type 3a10.6
11finnish type amyloidosis10.5
12polyneuropathy10.4
13choroiditis10.2
14juvenile glaucoma10.2
15polycystic kidney disease10.2
16autonomic neuropathy10.2
17cataract10.2
18choroid disease10.2
19corneal degeneration10.2
20corneal neovascularization10.2
21glaucoma10.2
22kidney disease10.2
23neuropathy10.2
24familial amyloidosis, finnish type10.2
25renal clear cell carcinoma10.0GSN
26colon cancer10.0TGIF1
27macular corneal dystrophy10.0CHST6
28cutis laxa10.0GSN
29astrocytoma10.0TGIF1
30moyamoya disease10.0TGIF1
31keratoconus10.0TGFBI, GSN
32amyloid tumor10.0TGFBI, GSN
33hereditary hemorrhagic telangiectasia10.0TGFB1
34pancreatitis10.0TGFB1
35amyloidosis corneal10.0TACSTD2, GSN, TGFBI
36camurati-engelmann disease10.0TGIF1, TGFB1
37pancreatic cancer10.0TGFB1, TGIF1, TACSTD2
38colorectal cancer10.0TGFB1, TGFBI, GSN
39ovarian cancer10.0TGFB1, TGIF1, GSN
40pulmonary fibrosis10.0TGIF1, TGFB1
41primary hyperoxaluria10.0GSN, TGIF1, TGFB1

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



Diseases related to lattice corneal dystrophy

Clinical Features for Lattice Corneal Dystrophy

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Drugs & Therapeutics for Lattice Corneal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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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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Publications for Lattice Corneal Dystrophy

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50PubMed
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Articles related to Lattice Corneal Dystrophy:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. (24425855)
2014
2
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
3
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. (22080335)
2012
4
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. (21617530)
2011
5
Unique TGFBI protein in lattice corneal dystrophy. (21948648)
2011
6
A novel mutation in transforming growth factor-beta induced protein (TGFI^Ip) reveals secondary structure perturbation in lattice corneal dystrophy. (21835759)
2011
7
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. (21743312)
2011
8
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. (21887843)
2011
9
Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp. (20697279)
2010
10
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. (20458218)
2010
11
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality. (21191728)
2010
12
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. (18332318)
2008
13
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. (18385782)
2008
14
A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. (17317389)
2007
15
Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene. (16453189)
2006
16
Excimer laser phototherapeutic keratectomy for granular and lattice corneal dystrophy: a comparative study. (16329366)
2005
17
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. (15623763)
2005
18
First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. (16329070)
2005
19
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. (15013897)
2004
20
Differences in amyloid deposition in primary and recurrent corneal lattice dystrophy type 1. (11917182)
2002
21
Ophthaproblem. Lattice corneal dystrophy. (11228024)
2001
22
Triple anterior chamber after full-thickness lamellar keratoplasty for lattice corneal dystrophy. (11413412)
2001
23
Lattice corneal dystrophy. (10964807)
2000
24
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. (10798644)
2000
25
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. (10729296)
2000
26
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. (10218700)
1999
27
Apolipoproteins J and E co-localise with amyloid in gelatinous drop-like and lattice type I corneal dystrophies. (10502582)
1999
28
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. (9787234)
1998
29
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
30
Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]. (9592740)
1998
31
Lattice corneal dystrophy: epithelial macroerosions in clear corneal grafts. (9676921)
1998
32
A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA. (9497262)
1998
33
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. (9799082)
1998
34
Granular-lattice (Avellino) corneal dystrophy in Japanese patients. (9395872)
1997
35
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. (8684801)
1996
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
Immunohistochemical analysis of lattice corneal dystrophies types I and II. (8110676)
1993
40
Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). (1923356)
1991
41
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. (1658654)
1991
42
Specular microscopic findings of lattice corneal dystrophy. (3493986)
1987
43
Superficial involvement in lattice corneal dystrophy. (3495762)
1986
44
Recurrence of the clinical signs of lattice corneal dystrophy (type I) in corneal transplants. (6364818)
1984
45
Lack of evidence for protein AA reactivity in amyloid deposits of lattice corneal dystrophy and amyloid corneal degeneration. (6383050)
1984
46
Linkage analysis in lattice corneal dystrophy. (6334443)
1984
47
Lattice corneal dystrophy: a source of confusion. (6603867)
1983
48
Diagnosis of early lattice corneal dystrophy. (6979328)
1982
49
Adult polycystic kidney disease and lattice corneal dystrophy: occurrence in a single family. (307373)
1978
50
Primary familial corneal amyloidosis (lattice corneal dystrophy). (5298242)
1967

Genetic Variations for Lattice Corneal Dystrophy

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Expression for genes affiliated with Lattice Corneal Dystrophy

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8TGFBI, GSN
29.7TGIF1, GSN
39.6TGFB1, TGFBI
49.5TGFB1, TGIF1
5
Hide members
9.5TGFB1, TGIF1
68.8CHST6, GSN, TGFBI, TGFB1

Compounds for genes affiliated with Lattice Corneal Dystrophy

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cmdb7449.5TGFB1, TGIF1
2vitamin d449.2TGFB1, TGIF1, GSN
3cytochalasin d44 5910.1TGFB1, TGIF1, GSN
4dihydrotestosterone44 28 11 2411.9GSN, TGIF1, TGFB1

GO Terms for genes affiliated with Lattice Corneal Dystrophy

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16Gene Ontology
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Cellular components related to Lattice Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:0163289.3TACSTD2, TBCD
2extracellular spaceGO:0056158.9TGFB1, TGFBI, GSN, TACSTD2

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet