MCID: CRN236
MIFTS: 30

Corneal Dystrophy, Lattice Type I malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Corneal Dystrophy, Lattice Type I

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Sources:
50OMIM, 12diseasecard, 48Novoseek, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 23GeneTests, 24Genetics Home Reference, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Corneal Dystrophy, Lattice Type I:

Name: Corneal Dystrophy, Lattice Type I 50 12 48
Lattice Corneal Dystrophy Type I 23 24 52 68 66
Lcd1 46 52 68
Corneal Dystrophy, Lattice Type 1 46 68
Corneal Dystrophy Lattice Type I 68 25
Lattice Corneal Dystrophy Type 1 46 52
 
Biber-Haab-Dimmer Dystrophy 24 52
Cdl1 46 68
Classic Lattice Corneal Dystrophy 52
Lcdi 52
Lcd 68

Characteristics:

Orphanet epidemiological data:

52
lattice corneal dystrophy type i:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

62
corneal dystrophy, lattice type i:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 122200
Orphanet52 ORPHA98964
ICD10 via Orphanet29 H18.5
MESH via Orphanet38 C537881
UMLS via Orphanet67 C1690006, C2931650
MedGen35 C1690006

Summaries for Corneal Dystrophy, Lattice Type I

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NIH Rare Diseases:46 Lattice corneal dystrophy type 1 (lcd1) is an eye disorder that affects the cornea, the clear outer covering of the eye. in order to see properly, the cornea must remain clear. in lcd1, a protein, known as amyloid, builds up in a layer of the cornea called the stroma.   symptoms usually become apparent in childhood or adolescence and may include separation of layers of the cornea (corneal erosions), decreased vision, photosensitivity, and eye pain. lcd1 is caused by mutations in the tgfbi gene and is inherited in an autosomal dominant manner. treatment focuses on relieving erosions with antibiotics and bandage contact lenses. if treatment is not successful and erosions become recurrent, phototherapeutic keratectomy to smooth the corneal surface and corneal transplant may be considered. last updated: 5/13/2016

MalaCards based summary: Corneal Dystrophy, Lattice Type I, also known as lattice corneal dystrophy type i, is related to cornelia de lange syndrome and cornelia de lange syndrome 1, and has symptoms including recurrent corneal erosions, progressive visual loss and lattice corneal dystrophy. An important gene associated with Corneal Dystrophy, Lattice Type I is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways is Coregulation of Androgen receptor activity. Affiliated tissues include eye.

UniProtKB/Swiss-Prot:68 Corneal dystrophy, lattice type 1: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs.

Genetics Home Reference:24 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.

Description from OMIM:50 122200

Related Diseases for Corneal Dystrophy, Lattice Type I

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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 recurrent corneal erosions HP:0000495
2 progressive visual loss HP:0000529
3 lattice corneal dystrophy HP:0001149

Drugs & Therapeutics for Corneal Dystrophy, Lattice Type I

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Interventional clinical trials:

Search ClinicalTrials, 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 I25 23 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type I

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

34
Eye

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

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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:

68 (show all 13)
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124CysVAR_005076rs121909210
2TGFBIp.Leu527ArgVAR_005080
3TGFBIp.Leu518ProVAR_012446
4TGFBIp.His626ArgVAR_012450
5TGFBIp.Leu518ArgVAR_018484
6TGFBIp.Thr538ArgVAR_018485
7TGFBIp.Gly623AspVAR_018487rs121909215
8TGFBIp.His626ProVAR_018488
9TGFBIp.Val505AspVAR_031535
10TGFBIp.Ala546AspVAR_031539
11TGFBIp.Pro551GlnVAR_031540rs267607110
12TGFBIp.Leu569ArgVAR_031541
13TGFBIp.His572ArgVAR_031543

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.370C> T (p.Arg124Cys)single nucleotide variantPathogenicrs121909210GRCh37Chr 5, 135382095: 135382095

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 pathwaysScoreTop Affiliating Genes
19.1GSN, TGIF1

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

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.3GSN, TGFBI

Sources for Corneal Dystrophy, Lattice Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet