MCID: CRN236
MIFTS: 29

Corneal Dystrophy, Lattice Type I

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

Aliases & Classifications for Corneal Dystrophy, Lattice Type I

MalaCards integrated aliases for Corneal Dystrophy, Lattice Type I:

Name: Corneal Dystrophy, Lattice Type I 54 13 52
Lattice Corneal Dystrophy Type I 24 25 56 71 29 69
Lcd1 50 56 71
Corneal Dystrophy, Lattice Type 1 50 71
Lattice Corneal Dystrophy Type 1 50 56
Biber-Haab-Dimmer Dystrophy 25 56
Cdl1 50 71
Classic Lattice Corneal Dystrophy 56
Corneal Dystrophy Lattice Type I 71
Lcdi 56
Lcd 71

Characteristics:

Orphanet epidemiological data:

56
lattice corneal dystrophy type i
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

54
Miscellaneous:
significant phenotypic variability

Inheritance:
autosomal dominant


HPO:

32
corneal dystrophy, lattice type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 122200
Orphanet 56 ORPHA98964
MESH via Orphanet 43 C537881
UMLS via Orphanet 70 C1690006 C2931650
ICD10 via Orphanet 34 H18.5
MedGen 40 C1690006

Summaries for Corneal Dystrophy, Lattice Type I

NIH Rare Diseases : 50 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 corneal dystrophy, gelatinous drop-like and cornelia de lange syndrome, 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/superpathways is Coregulation of Androgen receptor activity. Affiliated tissues include eye.

Genetics Home Reference : 25 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 : 71 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: 122200

Related Diseases for Corneal Dystrophy, Lattice Type I

Graphical network of the top 20 diseases related to Corneal Dystrophy, Lattice Type I:



Diseases related to Corneal Dystrophy, Lattice Type I

Symptoms & Phenotypes for Corneal Dystrophy, Lattice Type I

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
progressive visual impairment, mild
recurrent corneal ulceration
lattice corneal dystrophy
polymorphic geographic deposits at bowman's layer


Clinical features from OMIM:

122200

Human phenotypes related to Corneal Dystrophy, Lattice Type I:

32
id Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions 32 HP:0000495
2 progressive visual loss 32 HP:0000529
3 lattice corneal dystrophy 32 HP:0001149

Drugs & Therapeutics for Corneal Dystrophy, Lattice Type I

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Lattice Type I

Genetic Tests for Corneal Dystrophy, Lattice Type I

Genetic tests related to Corneal Dystrophy, Lattice Type I:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type I 29 24 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type I

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

39
Eye

Publications for Corneal Dystrophy, Lattice Type I

Variations for Corneal Dystrophy, Lattice Type I

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

71 (show all 13)
id Symbol AA change Variation ID SNP ID
1 TGFBI p.Leu527Arg VAR_005080
2 TGFBI p.Leu518Pro VAR_012446
3 TGFBI p.His626Arg VAR_012450
4 TGFBI p.Leu518Arg VAR_018484
5 TGFBI p.Thr538Arg VAR_018485
6 TGFBI p.Gly623Asp VAR_018487 rs121909215
7 TGFBI p.His626Pro VAR_018488
8 TGFBI p.Val505Asp VAR_031535
9 TGFBI p.Ala546Asp VAR_031539 rs267607109
10 TGFBI p.Pro551Gln VAR_031540 rs267607110
11 TGFBI p.Leu569Arg VAR_031541
12 TGFBI p.His572Arg VAR_031543
13 TGFBI p.Arg124Cys VAR_077904 rs121909210

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI NM_000358.2(TGFBI): c.370C> T (p.Arg124Cys) single nucleotide variant Pathogenic rs121909210 GRCh37 Chromosome 5, 135382095: 135382095

Expression for Corneal Dystrophy, Lattice Type I

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

Pathways for Corneal Dystrophy, Lattice Type I

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

id Super pathways Score Top Affiliating Genes
1 10.38 GSN TGIF1

GO Terms for Corneal Dystrophy, Lattice Type I

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 8.62 GSN TGFBI

Sources for Corneal Dystrophy, Lattice Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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