CDL1
MCID: LTT004
MIFTS: 20

Lattice Corneal Dystrophy Type 1 (CDL1) malady

Eye, Genetic categories

Summaries for Lattice Corneal Dystrophy Type 1

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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 finnish type amyloidosis. An important gene associated with Lattice Corneal Dystrophy Type 1 is TGFBI (transforming growth factor, beta-induced, 68kDa).

NIH Rare Diseases:43 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:47 122200,608471

Aliases & Classifications for Lattice Corneal Dystrophy Type 1

Sources:
43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS, 47OMIM, 45Novoseek, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
lattice corneal dystrophy type i:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

lattice corneal dystrophy type 1 43 49
corneal dystrophy, lattice type 1 43 20 22
lattice corneal dystrophy type i 21 49 61
corneal dystrophy, lattice type i 47 45
biber-haab-dimmer dystrophy 21 49
lcd1 43 49
familial amyloid polyneuropathy, type v 61
classic lattice corneal dystrophy 49
lcdi 49
cdl1 43


External Ids:

ICD10 via Orphanet26 H18.5

Related Diseases for Lattice Corneal Dystrophy Type 1

Sources:
17GeneCards, 18GeneDecks
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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
2finnish type amyloidosis10.5
3lattice corneal dystrophy type 3a10.3
4cornelia de lange syndrome10.3
5cornelia de lange syndrome 110.0

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



Diseases related to lattice corneal dystrophy type 1

Clinical Features for Lattice Corneal Dystrophy Type 1

Sources:
47OMIM
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Clinical features from OMIM:

122200,608471

Clinical synopsis from OMIM:

122200

Drugs & Therapeutics for Lattice Corneal Dystrophy Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Genetic Tests for Lattice Corneal Dystrophy Type 1

Sources:
20GeneTests, 22GTR
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Genetic tests related to Lattice Corneal Dystrophy Type 1:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type I20 22 TGFBI

Anatomical Context for Lattice Corneal Dystrophy Type 1

Animal Models for Lattice Corneal Dystrophy Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lattice Corneal Dystrophy Type 1

Sources:
51PubMed
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Articles related to Lattice Corneal Dystrophy Type 1:

idTitleAuthorsYear
1
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3). (20806046)
2010

Genetic Variations for Lattice Corneal Dystrophy Type 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Lattice Corneal Dystrophy Type 1:

63 (show all 13)
id Symbol AA change Variation 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

Expression for genes affiliated with Lattice Corneal Dystrophy Type 1

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Lattice Corneal Dystrophy Type 1

GO Terms for genes affiliated with Lattice Corneal Dystrophy Type 1

Products for genes affiliated with Lattice Corneal Dystrophy Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lattice Corneal Dystrophy Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet