MECD
MCID: MSM001
MIFTS: 31

Meesmann Corneal Dystrophy (MECD) malady

Eye diseases category

Summaries for Meesmann Corneal Dystrophy

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. a slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane.  overtime these cysts can rupture and cause erosions. the erosions may result in light sensitivity, redness, and pain. vision remains good in most cases. meesmann corneal dystrophy can be caused by mutations in the krt3 or krt12 gene. it is inherited in an autosomal dominant fashion. click here to view an image of the eye which includes an illustration of the epithelial membrane of the cornea. last updated: 7/30/2009

MalaCards: Meesmann Corneal Dystrophy, also known as corneal dystrophy, juvenile epithelial of meesmann, is related to corneal dystrophy and epithelial basement membrane corneal dystrophy. An important gene associated with Meesmann Corneal Dystrophy is KRT12 (keratin 12). The compounds arginine and proline have been mentioned in the context of this disorder. Affiliated tissues include eye.

Genetics Home Reference:21 Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye.

Wikipedia:63 Meesmann corneal dystrophy , also Stocker-Holt dystrophy, is a type of corneal dystrophy and a keratin... more...

Description from OMIM:46 122100

Aliases & Classifications for Meesmann Corneal Dystrophy

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
meesmann corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

meesmann corneal dystrophy 42 21 46 48
corneal dystrophy, juvenile epithelial of meesmann 42 21
juvenile hereditary epithelial dystrophy 42 21
meesmann corneal epithelial dystrophy 42 21
mecd 21 48
juvenile hereditary epithelial dystrophy of meesmann 48
corneal dystrophy, epithelial basement membrane 60
corneal dystrophy, meesmann epithelial 21
meesmann epithelial corneal dystrophy 21
meesman's corneal dystrophy 21
meesman dystrophy 42


External Ids:

OMIM46 122100
MESH via Orphanet35 D053559
ICD10 via Orphanet26 H18.5
UMLS via Orphanet61 C0339277

Related Diseases for Meesmann Corneal Dystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Meesmann Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.2KRT12, KRT3
2epithelial basement membrane corneal dystrophy10.6
3craniosynostosis 310.4
4corneal disease10.0KRT3, KRT12
5keratoconus10.0KRT12, KRT3
6amyloid tumor10.0KRT12, KRT3

Graphical network of diseases related to Meesmann Corneal Dystrophy:



Diseases related to meesmann corneal dystrophy

Clinical Features for Meesmann Corneal Dystrophy

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46OMIM
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Clinical features from OMIM:

122100

Clinical synopsis from OMIM:

122100

Drugs & Therapeutics for Meesmann Corneal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Meesmann Corneal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Meesmann Corneal Dystrophy

Search NIH Clinical Center for Meesmann Corneal Dystrophy

Search CenterWatch for Meesmann Corneal Dystrophy

Genetic Tests for Meesmann Corneal Dystrophy

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Anatomical Context for Meesmann Corneal Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Meesmann Corneal Dystrophy:

32
Eye

Animal Models for Meesmann Corneal Dystrophy or affiliated genes

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Publications for Meesmann Corneal Dystrophy

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Genetic Variations for Meesmann Corneal Dystrophy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Meesmann Corneal Dystrophy:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1KRT12p.Arg135ThrVAR_003834rs57218384
2KRT12p.Val143LeuVAR_003835rs58343600
3KRT12p.Arg135IleVAR_008525
4KRT12p.Arg135GlyVAR_008526rs58410481
5KRT12p.Leu140ArgVAR_008527rs58918655
6KRT12p.Tyr429AspVAR_008528rs58162394
7KRT12p.Met129ThrVAR_013126rs28936695
8KRT12p.Gln130ProVAR_013127rs58864803
9KRT12p.Arg135SerVAR_031394rs61282718
10KRT12p.Ala137ProVAR_031395rs58038639
11KRT12p.Ile426SerVAR_031397rs59350319
12KRT12p.Tyr429CysVAR_031398rs59202432
13KRT3p.Glu509LysVAR_003868rs57872071
14KRT3p.Arg503ProVAR_031327rs60410063

Expression for genes affiliated with Meesmann Corneal Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Meesmann Corneal Dystrophy

Search GEO for disease gene expression data for Meesmann Corneal Dystrophy.

Pathways for genes affiliated with Meesmann Corneal Dystrophy

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Compounds for genes affiliated with Meesmann Corneal Dystrophy

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44Novoseek
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Compounds related to Meesmann Corneal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine449.1KRT3, KRT12
2proline448.8KRT3, KRT12

GO Terms for genes affiliated with Meesmann Corneal Dystrophy

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16Gene Ontology
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Cellular components related to Meesmann Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.1KRT3, KRT12

Molecular functions related to Meesmann Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1KRT3, KRT12

Products for genes affiliated with Meesmann Corneal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Meesmann Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet