CDL1
MCID: LTT004
MIFTS: 30

Lattice Corneal Dystrophy Type 1 (CDL1) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Summaries for Lattice Corneal Dystrophy Type 1

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Lattice Corneal Dystrophy Type 1, also known as corneal dystrophy, lattice type 1, is related to lattice corneal dystrophy and corneal dystrophy. An important gene associated with Lattice Corneal Dystrophy Type 1 is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

NIH Rare Diseases:44 Lattice corneal dystrophy is a type of stromal dystrophy. it is characterized by the build up of protein fibers (i.e., amyloid) in the stroma.  symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. most cases of lattice dystrophy are caused by mutations in the tgfbi gene. last updated: 5/29/2009

Description from OMIM:48 122200,608471

Aliases & Classifications for Lattice Corneal Dystrophy Type 1

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44NIH Rare Diseases, 50Orphanet, 21GeneTests, 23GTR, 22Genetics Home Reference, 63UMLS, 48OMIM, 46Novoseek, 64UMLS via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 37MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
lattice corneal dystrophy type i:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

lattice corneal dystrophy type 1 44 50
corneal dystrophy, lattice type 1 44 21 23
lattice corneal dystrophy type i 22 50 63
corneal dystrophy, lattice type i 48 46
biber-haab-dimmer dystrophy 22 50
lcd1 44 50
familial amyloid polyneuropathy, type v 63
classic lattice corneal dystrophy 50
lcdi 50
cdl1 44


External Ids:

UMLS via Orphanet64 C1690006, C2931650
ICD10 via Orphanet27 H18.5
SNOMED-CT via Orphanet60 419197009
MESH via Orphanet37 C537881

Related Diseases for Lattice Corneal Dystrophy Type 1

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18GeneCards, 19GeneDecks
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Diseases in the Lattice Corneal Dystrophy Type 1 family:

Lattice Corneal Dystrophy Lattice Corneal Dystrophy Type 3a
Lattice Corneal Dystrophy Type Ii

Diseases related to Lattice Corneal Dystrophy Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy10.6
2corneal dystrophy10.6
3finnish type amyloidosis10.6
4cornelia de lange syndrome10.1
5cornelia de lange syndrome 110.1

Graphical network of diseases related to Lattice Corneal Dystrophy Type 1:



Diseases related to lattice corneal dystrophy type 1

Symptoms for Lattice Corneal Dystrophy Type 1

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48OMIM
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Symptoms by clinical synopsis from OMIM:

122200

Clinical features from OMIM:

122200,608471

Drugs & Therapeutics for Lattice Corneal Dystrophy Type 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Lattice Corneal Dystrophy Type 1

Drug clinical trials:

Search ClinicalTrials for Lattice Corneal Dystrophy Type 1

Search NIH Clinical Center for Lattice Corneal Dystrophy Type 1

Search CenterWatch for Lattice Corneal Dystrophy Type 1

Genetic Tests for Lattice Corneal Dystrophy Type 1

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21GeneTests, 23GTR
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Genetic tests related to Lattice Corneal Dystrophy Type 1:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type I21 23 TGFBI

Anatomical Context for Lattice Corneal Dystrophy Type 1

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34MalaCards
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MalaCards organs/tissues related to Lattice Corneal Dystrophy Type 1:

34
Eye

Animal Models for Lattice Corneal Dystrophy Type 1 or affiliated genes

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Publications for Lattice Corneal Dystrophy Type 1

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53PubMed
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Articles related to Lattice Corneal Dystrophy Type 1:

idTitleAuthorsYear
1
R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1. (11741113)
2001
2
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
3
Recurrence of lattice corneal dystrophy type 1 in the corneal grafts of two siblings. (6753590)
1982

Variations for Lattice Corneal Dystrophy Type 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lattice Corneal Dystrophy Type 1:

65 (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 Lattice Corneal Dystrophy Type 1:

1
id Gene Name 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 Lattice Corneal Dystrophy Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lattice Corneal Dystrophy Type 1

Search GEO for disease gene expression data for Lattice Corneal Dystrophy Type 1.

Pathways for genes affiliated with Lattice Corneal Dystrophy Type 1

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Compounds for genes affiliated with Lattice Corneal Dystrophy Type 1

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GO Terms for genes affiliated with Lattice Corneal Dystrophy Type 1

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Products for genes affiliated with Lattice Corneal Dystrophy Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lattice Corneal Dystrophy Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet