MCID: CRN236
MIFTS: 33

Corneal Dystrophy, Lattice Type I malady

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

Summaries for Corneal Dystrophy, Lattice Type I

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Genetics Home Reference:21 Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.

MalaCards based summary: Corneal Dystrophy, Lattice Type I, also known as lattice corneal dystrophy type i, is related to lattice corneal dystrophy and corneal dystrophy, and has symptoms including autosomal dominant inheritance, recurrent corneal erosions and progressive visual loss. An important gene associated with Corneal Dystrophy, Lattice Type I is TGFBI (transforming growth factor, beta-induced, 68kDa), and among its related pathways are Coregulation of Androgen receptor activity and Disease. The compounds leucine and cytochalasin d have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are cellular and immune system.

NIH Rare Diseases:41 Lattice corneal dystrophy is a type of stromal dystrophy. it is characterized by the build up of protein fibers (i.e., amyloid) in the stroma.  symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. most cases of lattice dystrophy are caused by mutations in the tgfbi gene. last updated: 5/29/2009

Description from OMIM:45 122200

Aliases & Classifications for Corneal Dystrophy, Lattice Type I

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Corneal Dystrophy, Lattice Type I, Aliases & Descriptions:

Name: Corneal Dystrophy, Lattice Type I 45 10 43
Lattice Corneal Dystrophy Type I 41 20 21 47 22 60
Biber-Haab-Dimmer Dystrophy 41 21 47
Classic Lattice Corneal Dystrophy 41 47
Lattice Corneal Dystrophy Type 1 41 47
 
Lcd1 41 47
Lcdi 41 47
Corneal Dystrophy, Lattice Type 1 41
Cdl1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
lattice corneal dystrophy type i:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

OMIM45 122200
Orphanet47 98964
MESH via Orphanet34 C537881
ICD10 via Orphanet26 H18.5
UMLS via Orphanet61 C1690006, C2931650

Related Diseases for Corneal Dystrophy, Lattice Type I

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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 Corneal Dystrophy, Lattice Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy30.6TGFBI, TGIF1, GSN
2corneal dystrophy30.6GSN, TGIF1, TGFBI
3cornelia de lange syndrome 110.1
4cornelia de lange syndrome10.1
5corneal dystrophy, gelatinous drop-like10.0GSN, TGFBI
6corneal disease10.0GSN, TGFBI
7keratoconus10.0TGFBI, GSN
8corneal dystrophy, avellino type9.9TGFBI, TGIF1
9asthma9.9GSN, TGIF1
10primary hyperoxaluria9.7TGIF1, GSN
11adenocarcinoma9.6GSN, TGIF1, TGFBI
12leukemia9.6TGFBI, TGIF1, GSN

Graphical network of diseases related to Corneal Dystrophy, Lattice Type I:



Diseases related to corneal dystrophy, lattice type i

Symptoms for Corneal Dystrophy, Lattice Type I

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Symptoms by clinical synopsis from OMIM:

122200

Clinical features from OMIM:

122200

HPO human phenotypes related to Corneal Dystrophy, Lattice Type I:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 recurrent corneal erosions HP:0000495
3 progressive visual loss HP:0000529
4 lattice corneal dystrophy HP:0001149

Drugs & Therapeutics for Corneal Dystrophy, Lattice Type I

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Lattice Type I

Search NIH Clinical Center for Corneal Dystrophy, Lattice Type I

Genetic Tests for Corneal Dystrophy, Lattice Type I

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Genetic tests related to Corneal Dystrophy, Lattice Type I:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type I20 22 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type I

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MalaCards organs/tissues related to Corneal Dystrophy, Lattice Type I:

31
Eye

Animal Models for Corneal Dystrophy, Lattice Type I or affiliated genes

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MGI Mouse Phenotypes related to Corneal Dystrophy, Lattice Type I:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.5GSN, TGIF1, TGFBI
2MP:00053878.2GSN, TGIF1, TGFBI

Publications for Corneal Dystrophy, Lattice Type I

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Variations for Corneal Dystrophy, Lattice Type I

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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Lattice Type I:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124CysVAR_005076
2TGFBIp.Leu527ArgVAR_005080
3TGFBIp.Leu518ProVAR_012446
4TGFBIp.His626ArgVAR_012450
5TGFBIp.Leu518ArgVAR_018484
6TGFBIp.Thr538ArgVAR_018485
7TGFBIp.Gly623AspVAR_018487
8TGFBIp.His626ProVAR_018488
9TGFBIp.Val505AspVAR_031535
10TGFBIp.Ala546AspVAR_031539
11TGFBIp.Pro551GlnVAR_031540
12TGFBIp.Leu569ArgVAR_031541
13TGFBIp.His572ArgVAR_031543

Clinvar genetic disease variations for Corneal Dystrophy, Lattice Type I:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.370C> T (p.Arg124Cys)single nucleotide variantPathogenicrs121909210GRCh37Chr 5, 135382095: 135382095
2TGFBINM_000358.2(TGFBI): c.1501C> A (p.Pro501Thr)single nucleotide variantPathogenicrs121909212GRCh37Chr 5, 135391459: 135391459
3TGFBINM_000358.2(TGFBI): c.1637C> A (p.Ala546Asp)single nucleotide variantPathogenicrs267607109GRCh37Chr 5, 135392443: 135392443
4TGFBINM_000358.2(TGFBI): c.1619T> C (p.Phe540Ser)single nucleotide variantPathogenicrs121909214GRCh37Chr 5, 135392425: 135392425

Expression for genes affiliated with Corneal Dystrophy, Lattice Type I

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Search GEO for disease gene expression data for Corneal Dystrophy, Lattice Type I.

Pathways for genes affiliated with Corneal Dystrophy, Lattice Type I

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Pathways related to Corneal Dystrophy, Lattice Type I according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GSN, TGIF1
28.5GSN, TGIF1, TGFBI

Compounds for genes affiliated with Corneal Dystrophy, Lattice Type I

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

idCompoundScoreTop Affiliating Genes
1leucine439.3GSN, TGFBI
2cytochalasin d43 5910.3GSN, TGIF1
3dihydrotestosterone43 28 24 1212.2GSN, TGIF1
4vitamin d439.1GSN, TGIF1
5dopamine43 28 24 1211.8GSN, TGIF1
6cysteine438.7GSN, TGIF1, TGFBI
7serine438.6TGFBI, TGIF1, GSN
8calcium43 49 24 1211.4TGFBI, TGIF1, GSN

GO Terms for genes affiliated with Corneal Dystrophy, Lattice Type I

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Products for genes affiliated with Corneal Dystrophy, Lattice Type I

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Corneal Dystrophy, Lattice Type I

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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