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:
49OMIM, 11diseasecard, 47Novoseek, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 22GeneTests, 23Genetics Home Reference, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Corneal Dystrophy, Lattice Type I:

Name: Corneal Dystrophy, Lattice Type I 49 11 47
Lattice Corneal Dystrophy Type I 22 23 51 67 65
Lcd1 45 51 67
Corneal Dystrophy, Lattice Type 1 45 67
Corneal Dystrophy Lattice Type I 67 24
Lattice Corneal Dystrophy Type 1 45 51
 
Biber-Haab-Dimmer Dystrophy 23 51
Cdl1 45 67
Classic Lattice Corneal Dystrophy 51
Lcdi 51
Lcd 67

Characteristics:

Orphanet epidemiological data:

51
lattice corneal dystrophy type i:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

61
corneal dystrophy, lattice type i:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 122200
Orphanet51 98964
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 C537881
UMLS via Orphanet66 C1690006, C2931650
MedGen34 C1690006
UMLS65 C1690006

Summaries for Corneal Dystrophy, Lattice Type I

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NIH Rare Diseases:45 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 lattice corneal dystrophy, progressive visual loss and recurrent corneal erosions. 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 and endothelial.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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.

Description from OMIM:49 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 lattice corneal dystrophy HP:0001149
2 progressive visual loss HP:0000529
3 recurrent corneal erosions HP:0000495

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 I22 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type I

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

33
Eye, Endothelial

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:

67 (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:

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
2TGFBINM_000358.2(TGFBI): c.1637C> A (p.Ala546Asp)single nucleotide variantPathogenicrs267607109GRCh37Chr 5, 135392443: 135392443

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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Sources for Corneal Dystrophy, Lattice Type I

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet