MCID: CRN236
MIFTS: 33

Corneal Dystrophy, Lattice Type I

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

Aliases & Classifications for Corneal Dystrophy, Lattice Type I

MalaCards integrated aliases for Corneal Dystrophy, Lattice Type I:

Name: Corneal Dystrophy, Lattice Type I 53 13 51
Lattice Corneal Dystrophy Type I 24 55 71 28 69
Lcd1 53 49 55 71
Cdl1 53 49 71
Corneal Dystrophy, Lattice Type 1 49 71
Lattice Corneal Dystrophy Type 1 49 55
Biber-Haab-Dimmer Dystrophy 24 55
Lcd 53 71
Lattice Corneal Dystrophy, Type I 53
Classic Lattice Corneal Dystrophy 55
Corneal Dystrophy Lattice Type I 71
Lcdi 55

Characteristics:

Orphanet epidemiological data:

55
lattice corneal dystrophy type i
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
significant phenotypic variability


HPO:

31
corneal dystrophy, lattice type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 122200
Orphanet 55 ORPHA98964
MESH via Orphanet 42 C537881
UMLS via Orphanet 70 C1690006 C2931650
ICD10 via Orphanet 33 H18.5
MedGen 39 C1690006
UMLS 69 C1690006

Summaries for Corneal Dystrophy, Lattice Type I

NIH Rare Diseases : 49 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 corneal dystrophy, 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 : 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.

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

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 13)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, gelatinous drop-like 31.3 GSN TGFBI
2 corneal dystrophy 29.5 GSN TGFBI
3 lattice corneal dystrophy 28.8 GSN TGFBI TGIF1
4 amyloidosis, finnish type 11.5
5 cornelia de lange syndrome 11.4
6 cornelia de lange syndrome 1 10.9
7 hepatocellular carcinoma 9.9
8 epithelial-stromal tgfbi dystrophy 9.9 GSN TGFBI
9 corneal dystrophy, thiel-behnke type 9.8 GSN TGFBI
10 corneal disease 9.8 GSN TGFBI
11 amyloidosis 9.7 GSN TGFBI
12 corneal dystrophy, avellino type 9.6 TGFBI TGIF1
13 keratoconus 9.5 GSN TGFBI

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:

53
Head And Neck Eyes:
polymorphic geographic deposits at bowman's layer
lattice corneal dystrophy
recurrent corneal ulceration
progressive visual impairment, mild


Clinical features from OMIM:

122200

Human phenotypes related to Corneal Dystrophy, Lattice Type I:

31
# Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions 31 HP:0000495
2 progressive visual loss 31 HP:0000529
3 lattice corneal dystrophy 31 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:

# Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type I 28 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type I

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

38
Eye

Publications for Corneal Dystrophy, Lattice Type I

Articles related to Corneal Dystrophy, Lattice Type I:

(show all 20)
# Title Authors Year
1
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. ( 24425855 )
2014
2
New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops. ( 22080335 )
2012
3
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3). ( 20806046 )
2010
4
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. ( 18615206 )
2008
5
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. ( 18470323 )
2008
6
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. ( 17013691 )
2006
7
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. ( 15838722 )
2005
8
First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. ( 16329070 )
2005
9
[Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I]. ( 15499271 )
2004
10
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. ( 15013897 )
2004
11
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. ( 14597039 )
2003
12
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. ( 12586172 )
2003
13
Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I. ( 10482106 )
1999
14
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. ( 9787234 )
1998
15
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. ( 9886734 )
1998
16
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. ( 9657906 )
1998
17
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. ( 7783175 )
1995
18
Immunohistochemical analysis of lattice corneal dystrophies types I and II. ( 8110676 )
1993
19
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. ( 1319113 )
1992
20
Recurrence of the clinical signs of lattice corneal dystrophy (type I) in corneal transplants. ( 6364818 )
1984

Variations for Corneal Dystrophy, Lattice Type I

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

71 (show all 13)
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Leu527Arg VAR_005080 rs1050842080Corneal
2 TGFBI p.Leu518Pro VAR_012446
3 TGFBI p.His626Arg VAR_012450 rs1052006472Corneal
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
# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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