CDL1
MCID: CRN236
MIFTS: 33

Corneal Dystrophy, Lattice Type I (CDL1)

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

Aliases & Classifications for Corneal Dystrophy, Lattice Type I

MalaCards integrated aliases for Corneal Dystrophy, Lattice Type I:

Name: Corneal Dystrophy, Lattice Type I 58 13 56
Lattice Corneal Dystrophy Type I 26 60 76 30 6 74
Lcd1 58 54 60 76
Cdl1 58 54 76
Corneal Dystrophy, Lattice Type 1 54 76
Lattice Corneal Dystrophy Type 1 54 60
Biber-Haab-Dimmer Dystrophy 26 60
Lcd 58 76
Dystrophy, Corneal, Lattice Type I 41
Lattice Corneal Dystrophy, Type I 58
Classic Lattice Corneal Dystrophy 60
Corneal Dystrophy Lattice Type I 76
Lcdi 60

Characteristics:

Orphanet epidemiological data:

60
lattice corneal dystrophy type i
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
significant phenotypic variability


HPO:

33
corneal dystrophy, lattice type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 122200
MESH via Orphanet 46 C537881
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C1690006 C2931650
Orphanet 60 ORPHA98964
MedGen 43 C1690006
UMLS 74 C1690006

Summaries for Corneal Dystrophy, Lattice Type I

NIH Rare Diseases : 54 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.

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. 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 and lung, and related phenotypes are progressive visual loss and recurrent corneal erosions

Genetics Home Reference : 26 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 : 76 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

Human phenotypes related to Corneal Dystrophy, Lattice Type I:

33
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 33 HP:0000529
2 recurrent corneal erosions 33 HP:0000495
3 lattice corneal dystrophy 33 HP:0001149

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
lattice corneal dystrophy
polymorphic geographic deposits at bowman's layer
recurrent corneal ulceration
progressive visual impairment, mild

Clinical features from OMIM:

122200

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 30 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type I

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

42
Eye, Lung

Publications for Corneal Dystrophy, Lattice Type I

Articles related to Corneal Dystrophy, Lattice Type I:

(show all 23)
# 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
First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. ( 16329070 )
2005
8
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. ( 15838722 )
2005
9
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. ( 15013897 )
2004
10
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. ( 15111592 )
2004
11
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. ( 15531312 )
2004
12
[Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I]. ( 15499271 )
2004
13
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. ( 12586172 )
2003
14
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. ( 14597039 )
2003
15
Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I. ( 10482106 )
1999
16
Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca. ( 9559741 )
1998
17
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. ( 9657906 )
1998
18
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. ( 9787234 )
1998
19
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. ( 9886734 )
1998
20
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. ( 9054935 )
1997
21
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. ( 7783175 )
1995
22
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. ( 1319113 )
1992
23
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:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Leu527Arg VAR_005080 rs105084208
2 TGFBI p.Leu518Pro VAR_012446
3 TGFBI p.His626Arg VAR_012450 rs105200647
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
2 TGFBI NM_000358.2(TGFBI): c.370C> T (p.Arg124Cys) single nucleotide variant Pathogenic rs121909210 GRCh38 Chromosome 5, 136046406: 136046406
3 TGFBI NM_000358.2(TGFBI): c.1637C> A (p.Ala546Asp) single nucleotide variant no interpretation for the single variant rs267607109 GRCh37 Chromosome 5, 135392443: 135392443
4 TGFBI NM_000358.2(TGFBI): c.1637C> A (p.Ala546Asp) single nucleotide variant no interpretation for the single variant rs267607109 GRCh38 Chromosome 5, 136056754: 136056754
5 TGFBI NM_000358.2(TGFBI): c.1652C> A (p.Pro551Gln) single nucleotide variant no interpretation for the single variant rs267607110 GRCh37 Chromosome 5, 135392458: 135392458
6 TGFBI NM_000358.2(TGFBI): c.1652C> A (p.Pro551Gln) single nucleotide variant no interpretation for the single variant rs267607110 GRCh38 Chromosome 5, 136056769: 136056769

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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