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:

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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
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. (23455751)
2013
2
Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies. (22876117)
2012
3
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. (20974628)
2011
4
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. (20357204)
2010
5
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). (19832730)
2009
6
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). (19190930)
2009
7
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. (19092416)
2009
8
Corneal melt in lattice corneal dystrophy type II after cataract surgery. (19101443)
2009
9
Gene symbol: TGFBI. Disease: Corneal dystrophy, lattice type. (18846615)
2008
10
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. (18615206)
2008
11
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. (17893671)
2007
12
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. (17765440)
2007
13
Delayed epithelial healing after keratoplasty for lattice corneal dystrophy. (18043172)
2007
14
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. (17534828)
2007
15
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. (17001192)
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
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. (16809844)
2006
19
Excimer laser phototherapeutic keratectomy for granular and lattice corneal dystrophy: a comparative study. (16329366)
2005
20
Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy. (15923518)
2005
21
Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. (16380889)
2005
22
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)
2004
23
Lattice corneal dystrophy. (15693341)
2004
24
Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. (15183802)
2004
25
Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I]. (15499271)
2004
26
Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene]. (15559315)
2004
27
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. (12586172)
2003
28
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. (14597039)
2003
29
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. (12400061)
2002
30
Survey of patients with granular, lattice, avellino, and Reis-BA1cklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. (11146721)
2001
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
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). (11222521)
2001
33
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. (10682981)
2000
34
Confocal microscopy in lattice corneal dystrophy. (10459621)
1999
35
Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I. (10482106)
1999
36
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
37
Homologous penetrating central limbokeratoplasty in granular and lattice corneal dystrophy. (10571296)
1999
38
Pseudoexfoliation syndrome in a patient with lattice corneal dystrophy. (10674861)
1998-1999
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
Combined granular-lattice corneal dystrophy (Avellino) in a patient with no known Italian ancestry. (8925485)
1996
41
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. (8145387)
1993
42
Clinical features of a newly recognized type of lattice corneal dystrophy. (3498366)
1987
43
Histopathologic and immunochemical features of lattice corneal dystrophy type III. (3498367)
1987
44
Protein AA and lattice corneal dystrophy. (6989251)
1980
45
Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis. (305513)
1978
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

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