LECD
MCID: CRN126
MIFTS: 28

Corneal Dystrophy, Lisch Epithelial (LECD)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Lisch Epithelial

MalaCards integrated aliases for Corneal Dystrophy, Lisch Epithelial:

Name: Corneal Dystrophy, Lisch Epithelial 56 13 43 71
Lisch Epithelial Corneal Dystrophy 56 12 58 15
Lecd 56 12 58
Band-Shaped and Whorled Microcystic Dystrophy of the Corneal Epithelium 58
Band-Shaped and Whorled Microcystic Corneal Epithelial Dystrophy 56
Band-Shaped and Whorled Microcystic 12

Characteristics:

Orphanet epidemiological data:

58
lisch epithelial corneal dystrophy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Miscellaneous:
onset in childhood
asymptomatic if papillary zone is spared

Inheritance:
x-linked dominant


HPO:

31
corneal dystrophy, lisch epithelial:
Inheritance x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060450
OMIM 56 300778
MeSH 43 C567588
ICD10 32 H18.5
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C2749050
Orphanet 58 ORPHA98955
MedGen 41 C2749050
SNOMED-CT via HPO 68 5587004
UMLS 71 C2749050

Summaries for Corneal Dystrophy, Lisch Epithelial

MalaCards based summary : Corneal Dystrophy, Lisch Epithelial, also known as lisch epithelial corneal dystrophy, is related to corneal dystrophy and keratopathy. An important gene associated with Corneal Dystrophy, Lisch Epithelial is LECD (Corneal Dystrophy, Lisch Epithelial), and among its related pathways/superpathways are Keratan sulfate/keratin metabolism and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include eye and endothelial, and related phenotypes are corneal dystrophy and Increased virus production

More information from OMIM: 300778

Related Diseases for Corneal Dystrophy, Lisch Epithelial

Diseases related to Corneal Dystrophy, Lisch Epithelial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 28.5 UBIAD1 TBCD KRT3 KRT12 CHST6 CHST5
2 keratopathy 10.3
3 pseudopterygium 10.0 KRT3 KRT12
4 limbal stem cell deficiency 10.0 KRT3 KRT12
5 irregular astigmatism 10.0 KRT3 KRT12
6 astigmatism 10.0 KRT3 KRT12
7 epithelial basement membrane dystrophy 10.0 TBCD CHST6
8 corneal edema 9.9 KRT3 KRT12
9 iris disease 9.9 KRT3 KRT12
10 keratitis, hereditary 9.9 KRT3 KRT12
11 severe cutaneous adverse reaction 9.8 KRT3 KRT12
12 lattice corneal dystrophy 9.7 TBCD KRT12 CHST6
13 fuchs' endothelial dystrophy 9.7 KRT3 KRT12 CHST6
14 aniridia 1 9.6 KRT3 KRT12
15 schnyder corneal dystrophy 9.6 UBIAD1 KRT3 KRT12
16 recurrent corneal erosion 9.4 TBCD KRT3 KRT12 CHST6
17 granular corneal dystrophy 9.4 TBCD KRT3 KRT12 CHST6
18 epithelial-stromal tgfbi dystrophy 9.4 TBCD KRT3 KRT12 CHST6
19 corneal deposit 9.2 UBIAD1 TBCD KRT3 CHST6
20 corneal disease 9.2 UBIAD1 KRT3 KRT12 CHST6
21 corneal dystrophy, posterior polymorphous, 1 9.2 UBIAD1 KRT3 KRT12 CHST6
22 corneal dystrophy, avellino type 9.2 UBIAD1 TBCD KRT3 CHST6
23 corneal dystrophy, reis-bucklers type 9.0 UBIAD1 TBCD KRT3 KRT12 CHST6
24 corneal dystrophy, thiel-behnke type 9.0 UBIAD1 TBCD KRT3 KRT12 CHST6
25 corneal degeneration 9.0 UBIAD1 TBCD KRT3 KRT12 CHST6
26 epithelial and subepithelial dystrophy 9.0 UBIAD1 TBCD KRT3 KRT12 CHST6
27 corneal dystrophy, gelatinous drop-like 9.0 UBIAD1 TBCD KRT3 KRT12 CHST6
28 corneal dystrophy, meesmann, 1 8.9 UBIAD1 TBCD KRT3 KRT12 CHST6
29 macular dystrophy, corneal 8.6 UBIAD1 KRT3 KRT12 CHST6 CHST5
30 stromal dystrophy 8.4 UBIAD1 TBCD KRT3 KRT12 CHST6 CHST5
31 corneal endothelial dystrophy 8.3 UBIAD1 TBCD KRT3 KRT12 CHST6 CHST5

Graphical network of the top 20 diseases related to Corneal Dystrophy, Lisch Epithelial:



Diseases related to Corneal Dystrophy, Lisch Epithelial

Symptoms & Phenotypes for Corneal Dystrophy, Lisch Epithelial

Human phenotypes related to Corneal Dystrophy, Lisch Epithelial:

31
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 31 HP:0001131

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
band-shaped, whorled microcystic dystrophy of the corneal epithelium

Clinical features from OMIM:

300778

GenomeRNAi Phenotypes related to Corneal Dystrophy, Lisch Epithelial according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased virus production GR00378-A 8.8 CCL16 KRT3 MAOA

Drugs & Therapeutics for Corneal Dystrophy, Lisch Epithelial

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Lisch Epithelial

Cochrane evidence based reviews: corneal dystrophy, lisch epithelial

Genetic Tests for Corneal Dystrophy, Lisch Epithelial

Anatomical Context for Corneal Dystrophy, Lisch Epithelial

MalaCards organs/tissues related to Corneal Dystrophy, Lisch Epithelial:

40
Eye, Endothelial

Publications for Corneal Dystrophy, Lisch Epithelial

Articles related to Corneal Dystrophy, Lisch Epithelial:

# Title Authors PMID Year
1
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. 56
11024418 2000
2
A new, band-shaped and whorled microcystic dystrophy of the corneal epithelium. 56
1621784 1992
3
[In vitro histological analysis, in vivo confocal microscopy and anterior segment spectral domain OCT in a case of Lisch epithelial corneal dystrophy]. 61
31202779 2019
4
[Epithelial Dystrophies of the Cornea]. 61
30776844 2019
5
Combined Keratectomy and Localized Limbal Cauterization for Treating Lisch Epithelial Corneal Dystrophy. 61
30499831 2019
6
Keratolimbal autograft transplantation as a possible new treatment of Lisch epithelial corneal dystrophy. 61
26928889 2016
7
High-Resolution Optical Coherence Tomography Findings of Lisch Epithelial Corneal Dystrophy. 61
26764880 2016
8
In vivo confocal microscopy and spectral domain anterior segment OCT in Lisch epithelial corneal dystrophy. 61
26144589 2015
9
Contact lens-induced regression of Lisch epithelial corneal dystrophy. 61
20118787 2010

Variations for Corneal Dystrophy, Lisch Epithelial

Expression for Corneal Dystrophy, Lisch Epithelial

Search GEO for disease gene expression data for Corneal Dystrophy, Lisch Epithelial.

Pathways for Corneal Dystrophy, Lisch Epithelial

Pathways related to Corneal Dystrophy, Lisch Epithelial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.9 CHST6 CHST5
2 10.18 CHST6 CHST5

GO Terms for Corneal Dystrophy, Lisch Epithelial

Biological processes related to Corneal Dystrophy, Lisch Epithelial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.26 KRT3 KRT12
2 keratan sulfate biosynthetic process GO:0018146 9.16 CHST6 CHST5
3 N-acetylglucosamine metabolic process GO:0006044 8.96 CHST6 CHST5
4 sulfur compound metabolic process GO:0006790 8.62 CHST6 CHST5

Molecular functions related to Corneal Dystrophy, Lisch Epithelial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 8.96 CHST6 CHST5
2 N-acetylglucosamine 6-O-sulfotransferase activity GO:0001517 8.62 CHST6 CHST5

Sources for Corneal Dystrophy, Lisch Epithelial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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