MCID: LTT001

Lattice Corneal Dystrophy malady

Summaries for Lattice Corneal Dystrophy

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22MalaCards
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MalaCards: Lattice Corneal Dystrophy, also known as familial amyloid neuropathy, finnish type (disorder), 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 is TGF-beta/Smad Signaling. The compounds cmdb7 and vitamin d have been mentioned in the context of this disorder.

Aliases & Descriptions for Lattice Corneal Dystrophy

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6Disease Ontology, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 24MeSH
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Aliases & Descriptions:

lattice corneal dystrophy 6 8 32
familial amyloid neuropathy, finnish type (disorder) 6
familial amyloid polyneuropathy, type v 43
lattice corneal dystrophy (disorder) 6
amyloid neuropathies, familial 43

Related Diseases for Lattice Corneal Dystrophy

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13GeneCards, 14GeneDecks
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Disease types for lattice corneal dystrophy family:

lattice corneal dystrophy type 1 lattice corneal dystrophy type 3a
lattice corneal dystrophy type iiia lattice corneal dystrophy type ii

Diseases related to lattice corneal dystrophy by text searches and GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy35.2TACSTD2, TGIF1, GSN, TGFB1, CHST6, TGFBI
2lattice corneal dystrophy type 134.8TGFBI, TGIF1, GSN
3corneal dystrophy avellino type33.9TGIF1, TGFBI
4recurrent corneal erosion30.8TACSTD2, TGFBI
5amyloidosis corneal30.3TACSTD2, TGFBI, GSN
6amyloidosis30.2TGFBI, TGIF1, GSN, TGFB1, TACSTD2
7amyloid tumor13.0GSN, TGFBI
8ureteral disease13.0TGFBI, TGFB1
9facial paralysis12.9TGFB1, GSN
10hereditary hemorrhagic telangiectasia12.9TGFB1, TGFBI
11camurati-engelmann disease12.9TGIF1, TGFB1
12cutis laxa12.8TGFB1, GSN
13congenital heart block12.8TGIF1, TGFB1
14idiopathic interstitial pneumonia12.8TGIF1, TGFB1
15heart block12.7TGFB1, TGIF1
16periostitis12.6TGFB1, TGIF1
17cerebral amyloid angiopathy12.6GSN, TGFB1
18moyamoya disease12.6TGIF1, TGFB1
19renal clear cell carcinoma12.6GSN, TGFB1, TGFBI
20gingival overgrowth12.6TGFB1, GSN
21keratoconus12.6GSN, TGFBI, TGFB1
22corneal granular dystrophy12.5CHST6, H3F3C
23macular dystrophy, corneal type 112.5CHST6, TGFB1
24systemic scleroderma12.5TGFBI, TGFB1
25graft versus host disease12.4TGIF1, TGFB1, TGFBI
26corneal disease12.3GSN, CHST6, TGFBI
27chorioamnionitis12.2TGFB1, TGIF1
28pulmonary fibrosis12.2GSN, TGFB1, TGFBI, TGIF1
29renal carcinoma12.1TGFB1, TGIF1, GSN
30astrocytoma12.1GSN, TGFB1, TGFBI, TGIF1
31ovarian carcinoma11.9TGFB1, GSN, TGIF1, TACSTD2
32colon cancer11.7TGFBI, TGIF1, GSN, TACSTD2, TGFB1
33ovarian cancer11.6TGIF1, TACSTD2, TGFBI, TGFB1, GSN
34lattice corneal dystrophy type ii11.2
35pancreatic cancer11.1TACSTD2, GSN, TGFB1, TGFBI, TGIF1, ARPC1A
36pancreatitis11.1TGFB1, TACSTD2, TGIF1, TGFBI, GSN, ARPC1A
37lattice corneal dystrophy type iiia9.3
38finnish type amyloidosis8.9
39lattice corneal dystrophy type 3a8.9

Graphical network of the top 20 diseases related to lattice corneal dystrophy:



Graphical network of diseases related to lattice corneal dystrophy

Clinical Features for Lattice Corneal Dystrophy

Drugs & Therapeutics for Lattice Corneal Dystrophy

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Lattice Corneal Dystrophy

Anatomical Context for Lattice Corneal Dystrophy

Phenotypes for genes affiliated with Lattice Corneal Dystrophy

Publications for genes affiliated with Lattice Corneal Dystrophy

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35PubMed
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Articles related to lattice corneal dystrophy:

(show all 48)
idTitleAuthorsYearAffiliating Genes
1Novel and known mutations of TGFBI, their genotype-ph enotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. (20161820)Zhong X.... Wang Y.2010TGFBI
2Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. (20458218)Edelstein S.L.... Waltman S.R.2010TGFBI
3Different phenotypes of lattice corneal dystrophy typ e I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFB I (BIGH3). (20806046)Romero P.... Herrera L.2010TGFBI
4Case of lattice corneal dystrophy due to L527R mutati on in the TGFBI gene with asymmetric corneal opacity in eye laterality. (21191728)Ohnishi T.... Sawa M.2010TGFBI
5Lattice corneal dystrophy type IV (p.Leu527Arg) is ca used by a founder mutation of the TGFBI gene in a single Japanese ancestor. (20357204)Fukuoka H.... Kinoshita S.2010TGFB1
6Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). (19832730)Carrwik C.... Stenevi U.2009GSN
7Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. (19461933)Yamada N.... Hinoda Y.2009TGFBI
8Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. (19092416)Kamal K.M.... Aldave A.J.2009TGIF1
9A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. (18332318)Aldave A.J.... Glasgow B.J.2008TGFBI
10Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. (18470323)Romero P.... Herrera L.2008TGFBI
11Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. (18385782)Afshari N.A.... Klintworth G.K.2008TGFBI
12An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. (18615206)Liu Z.... Xie L.X.2008TGFB1, TGFBI
13A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. (18303168)Yellore V.S.... Aldave A.J.2008TGFBI
14The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. (17893671)Correa-Gomez V.... Zenteno J.C.2007TGFBI
15A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. (17317389)Aldave A.J.... Glasgow B.J.2007TGFBI
16A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. (17765440)Tian X.... Ma Z.2007TGFBI
17Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. (17534828)Huerva V.... Matias-Guiu X.2007GSN
18A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. (16809844)Yu P.... Guo L.2006TGFBI
19A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. (17013691)Atchaneeyasakul L.-O.... Srisawat C.2006TGFBI
20Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. (16541014)Aldave A.J.... Yellore V.S.2006TGFBI
21Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene. (16453189)Funayama T.... Yamada M.2006TGFBI
22First genetic analysis of lattice corneal dystrophy t ype I in a family from Bulgaria. (16329070)Capoluongo E.... Brancaccio A.2005TGFBI
23Molecular genetic study on patients with lattice corneal dystrophy in China. (16008913)Dong W.L.... Yu J.2005TGFBI
24Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. (15790870)Stix B.... Roecken C.2005TGFBI
25Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. (15838722)Tian X.... Liu Z.2005TGFBI
26Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy. (15923518)Yamada N.... Seki K.2005TGFBI
27Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. (15183802)Aldave A.J.... Weissman B.A.2004TGFBI
28Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I (15499271)Chiambaretta F.... Rigal D.2004TGFBI
29Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. (15531312)Aldave A.J.... Klintworth G.K.2004TGFBI
30Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene (15559315)Nakagawa Asahina S.... Kanai A.2004TGFBI, TGIF1
31Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)Klintworth G.K.... Afshari N.A.2004TGFBI
32Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. (15013897)Yoshida S.... Ishibashi T.2004TGFBI
33H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. (12770961)Chau H.M.... Kanai A.2003TGFBI
34A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. (14597039)Warren J.F.... Margolis T.P.2003TGFBI
35A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. (12586172)Sakimoto T.... Sawa M.2003TGFBI, TGIF1
36Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. (12400061)Tsujikawa K.... Tano Y.2002TGFBI
37R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1. (11741113)Hellenbroich Y.... Zuhlke C.2001TGFBI
38Late-onset form of lattice corneal dystrophy caused by Leu527Arg mutation of the TGFBI gene. (11413411)Hirano K.... Yamamoto N.2001TGFBI
39BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. (10798644)Schmitt-Bernard C.F.... Tuffery-Giraud S.2000TGFBI
40Gelatino-lattice corneal dystrophy: clinical features and mutational analysis. (10844062)Nakamura T.... Kinoshita S.2000TACSTD2
41Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. (10729296)Stewart H.S.... Black G.C.2000GSN
42A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. (10328397)Stewart H.S.... Ridgway A.A.1999TGFBI, TGIF1
43Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family (9592740)Meins M.... Gal A.1998TGFBI
44Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. (9787234)Longanesi L.... De Pol A.1998GSN
45A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA. (9497262)Yamamoto S.... Tano Y.1998TGFBI
46A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. (9799082)Fujiki K.... Kanai A.1998TGFBI
47Immunohistochemical analysis of lattice corneal dystrophies types I and II. (8110676)KivelAo T.... Haltia M.1993GSN
48Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. (1658654)Gorevic P.D.... Frangione B.1991GSN

Expression for genes affiliated with Lattice Corneal Dystrophy

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Lattice Corneal Dystrophy

Pathways for genes affiliated with Lattice Corneal Dystrophy

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3Cell Signaling Technology
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Pathways related to lattice corneal dystrophy according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1TGF-beta/Smad Signaling39.6TGFB1, TGFBI

Compounds for genes affiliated with Lattice Corneal Dystrophy

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB
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Compounds related to lattice corneal dystrophy according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1cmdb732 9.5TGFB1, TGIF1
2vitamin d32 9.1GSN, TGFB1, TGIF1
3cytochalasin d32 42 10.0GSN, TGFB1, TGIF1
4dihydrotestosterone32 9 18 9 11.8TGIF1, TGFB1, GSN

GO Terms for genes affiliated with Lattice Corneal Dystrophy

Sources:
12Gene Ontology
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Biological processes related to lattice corneal dystrophy according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to growth factor stimulusGO:0713639.5TGFB1, TGIF1

Sources for Lattice Corneal Dystrophy

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS