MECD
MCID: MSM001
MIFTS: 34

Meesmann Corneal Dystrophy (MECD) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Meesmann Corneal Dystrophy

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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 based summary: Meesmann Corneal Dystrophy, also known as corneal dystrophy, juvenile epithelial of meesmann, is related to corneal dystrophy and posterior polymorphous corneal dystrophy, and has symptoms including 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:65 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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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Meesmann Corneal Dystrophy, Aliases & Descriptions:

Name: 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 62
Corneal Dystrophy, Meesmann Epithelial 21
Meesmann Epithelial Corneal Dystrophy 21
Meesman's Corneal Dystrophy 21
Meesman Dystrophy 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 122100
MESH via Orphanet35 D053559
ICD10 via Orphanet26 H18.5
UMLS via Orphanet63 C0339277

Related Diseases for Meesmann Corneal Dystrophy

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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 dystrophy31.1KRT12, KRT3
2posterior polymorphous corneal dystrophy10.3
3corneal disease9.9KRT12, KRT3
4keratoconus9.9KRT12, KRT3
5amyloid tumor9.8KRT12, KRT3

Graphical network of diseases related to Meesmann Corneal Dystrophy:



Diseases related to meesmann corneal dystrophy

Symptoms for Meesmann Corneal Dystrophy

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Symptoms by clinical synopsis from OMIM:

122100

Clinical features from OMIM:

122100

HPO human phenotypes related to Meesmann Corneal Dystrophy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 corneal dystrophy HP:0001131
3 nonprogressive disorder HP:0003680
4 punctate opacification of the cornea HP:0007856

Drugs & Therapeutics for Meesmann Corneal Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Meesmann Corneal Dystrophy

Search NIH Clinical Center for Meesmann Corneal Dystrophy

Genetic Tests for Meesmann Corneal Dystrophy

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Anatomical Context for Meesmann Corneal Dystrophy

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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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Articles related to Meesmann Corneal Dystrophy:

(show all 11)
idTitleAuthorsYear
1
KRT12 Mutations and InA Vivo Confocal Microscopy in Two Japanese Families With Meesmann Corneal Dystrophy. (24099278)
2014
2
Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. (22737341)
2010
3
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
4
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. (18806880)
2008
5
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. (18661274)
2008
6
Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. (17068472)
2006
7
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
2005
8
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. (16352477)
2005
9
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (16227835)
2005
10
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. (11024418)
2000
11
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (10612503)
1999

Variations for Meesmann Corneal Dystrophy

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UniProtKB/Swiss-Prot genetic disease variations for Meesmann Corneal Dystrophy:

64 (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

Clinvar genetic disease variations for Meesmann Corneal Dystrophy:

6
id Gene Name Type Significance SNP ID Assembly Location
1KRT3NM_057088.2(KRT3): c.1525G> A (p.Glu509Lys)single nucleotide variantPathogenicrs57872071GRCh37Chr 12, 53185000: 53185000
2KRT3NM_057088.2(KRT3): c.1493A> T (p.Glu498Val)single nucleotide variantPathogenicrs267607431GRCh37Chr 12, 53185032: 53185032
3KRT3NM_057088.2(KRT3): c.1508G> C (p.Arg503Pro)single nucleotide variantPathogenicrs60410063GRCh37Chr 12, 53185017: 53185017
4KRT12NM_000223.3(KRT12): c.404G> C (p.Arg135Thr)single nucleotide variantPathogenicrs57218384GRCh37Chr 17, 39023035: 39023035
5KRT12NM_000223.3(KRT12): c.427G> C (p.Val143Leu)single nucleotide variantPathogenicrs58343600GRCh37Chr 17, 39023012: 39023012
6KRT12NM_000223.3(KRT12): c.403A> G (p.Arg135Gly)single nucleotide variantPathogenicrs58410481GRCh37Chr 17, 39023036: 39023036
7KRT12NM_000223.3(KRT12): c.404G> T (p.Arg135Ile)single nucleotide variantPathogenicrs57218384GRCh37Chr 17, 39023035: 39023035
8KRT12NM_000223.3(KRT12): c.1285T> G (p.Tyr429Asp)single nucleotide variantPathogenicrs58162394GRCh37Chr 17, 39019406: 39019406
9KRT12NM_000223.3(KRT12): c.419T> G (p.Leu140Arg)single nucleotide variantPathogenicrs58918655GRCh37Chr 17, 39023020: 39023020
10KRT12NM_000223.3(KRT12): c.386T> C (p.Met129Thr)single nucleotide variantPathogenicrs28936695GRCh37Chr 17, 39023053: 39023053

Expression for genes affiliated with Meesmann Corneal Dystrophy

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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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Sources:
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet