MECD
MCID: MSM001
MIFTS: 27

Meesmann Corneal Dystrophy (MECD) malady

Eye category

Summaries for Meesmann Corneal Dystrophy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 craniosynostosis 3 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.

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

Description from OMIM:47 122100

Aliases & Classifications for Meesmann Corneal Dystrophy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
meesmann corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

meesmann corneal dystrophy 43 21 47 49
corneal dystrophy, juvenile epithelial of meesmann 43 21
juvenile hereditary epithelial dystrophy 43 21
meesmann corneal epithelial dystrophy 43 21
mecd 21 49
juvenile hereditary epithelial dystrophy of meesmann 49
corneal dystrophy, epithelial basement membrane 61
corneal dystrophy, meesmann epithelial 21
meesmann epithelial corneal dystrophy 21
meesman's corneal dystrophy 21
meesman dystrophy 43


External Ids:

OMIM47 122100
MESH via Orphanet36 D053559
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet58 1674008
UMLS via Orphanet62 C0339277

Related Diseases for Meesmann Corneal Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis 310.4
2epithelial basement membrane corneal dystrophy10.3
3posterior polymorphous corneal dystrophy10.3
4corneal disease10.0KRT3, KRT12
5keratoconus10.0KRT12, KRT3
6amyloid tumor10.0KRT12, KRT3
7corneal dystrophy10.0KRT12, KRT3

Graphical network of diseases related to Meesmann Corneal Dystrophy:



Diseases related to meesmann corneal dystrophy

Clinical Features for Meesmann Corneal Dystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

122100

Clinical synopsis from OMIM:

122100

Drugs & Therapeutics for Meesmann Corneal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Meesmann Corneal Dystrophy

Animal Models for Meesmann Corneal Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Meesmann Corneal Dystrophy

Sources:
51PubMed
See all sources

Articles related to Meesmann Corneal Dystrophy:

(show all 27)
idTitleAuthorsYear
1
KRT12 Mutations and InA Vivo Confocal Microscopy in Two Japanese Families With Meesmann Corneal Dystrophy. (24099278)
2014
2
Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family. (23569037)
2013
3
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. (23222558)
2013
4
Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. (23233254)
2013
5
Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. (22174841)
2011
6
Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. (22737341)
2010
7
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. (20577595)
2010
8
Recurrent Meesmann's corneal dystrophy: treatment with keratectomy and mitomycin C. (19169328)
2009
9
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
10
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. (18806880)
2008
11
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. (18661274)
2008
12
Meesmann's corneal dystrophy managed with an epithelial delaminator. (18059516)
2007
13
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. (17653038)
2007
14
Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy]. (18201524)
2007
15
Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. (17068472)
2006
16
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
2005
17
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. (16352477)
2005
18
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (16227835)
2005
19
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. (15148206)
2004
20
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. (12543196)
2002
21
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. (12084738)
2002
22
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. (10781519)
2000
23
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. (10644419)
2000
24
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. (11024418)
2000
25
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (10612503)
1999
26
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. (9171831)
1997
27
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. (9399908)
1997

Genetic Variations for Meesmann Corneal Dystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Meesmann Corneal Dystrophy:

63 (show all 14)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Meesmann Corneal Dystrophy

Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1arginine459.1KRT3, KRT12
2proline458.8KRT3, KRT12

GO Terms for genes affiliated with Meesmann Corneal Dystrophy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Meesmann Corneal Dystrophy

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