MCID: MSM001
MIFTS: 42

Meesmann Corneal Dystrophy malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Meesmann Corneal Dystrophy

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Meesmann Corneal Dystrophy:

Name: Meesmann Corneal Dystrophy 49 11 45 22 23 51 67
Corneal Dystrophy, Juvenile Epithelial of Meesmann 45 22 23
Mecd 23 51 67
Juvenile Hereditary Epithelial Dystrophy 45 23
Meesmann Corneal Epithelial Dystrophy 45 23
Meesmann Epithelial Corneal Dystrophy 23 67
Meesman's Corneal Dystrophy 23 24
 
Juvenile Hereditary Epithelial Dystrophy of Meesmann 51
Juvenile Epithelial Corneal Dystrophy of Meesmann 67
Corneal Dystrophy, Meesmann Epithelial 23
Corneal Dystrophy, Meesmann 67
Meesman Dystrophy 45
Epithelial 22
Mcd 67


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
meesmann corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 122100
Orphanet51 98954
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 D053559
UMLS via Orphanet66 C0339277
MedGen34 C0339277
MeSH36 D053559

Summaries for Meesmann Corneal Dystrophy

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UniProtKB/Swiss-Prot:67 Corneal dystrophy, Meesmann: An autosomal dominant corneal disease characterized by fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.

MalaCards based summary: Meesmann Corneal Dystrophy, also known as corneal dystrophy, juvenile epithelial of meesmann, is related to corneal dystrophy and liver cirrhosis, and has symptoms including autosomal dominant inheritance, corneal dystrophy and nonprogressive. An important gene associated with Meesmann Corneal Dystrophy is KRT12 (Keratin 12, Type I). Affiliated tissues include eye.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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.  over time these cysts can rupture and cause erosions. the erosions may result in light sensitivity, redness, and pain. vision remains good in most, but not all, cases. meesmann corneal dystrophy can be caused by mutations in the krt3 or krt12 gene. it is inherited in an autosomal dominant fashion.  last updated: 5/22/2015

OMIM:49 Meesmann corneal dystrophy is a dominantly inherited disorder characterized by fragility of the anterior corneal... (122100) more...

Wikipedia:68 Meesmann corneal dystrophy, also Stocker-Holt dystrophy, is a type of corneal dystrophy and a keratin... more...

Related Diseases for Meesmann Corneal Dystrophy

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Graphical network of the top 20 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 HP:0003680
4 punctate opacification of the cornea HP:0007856

Drugs & Therapeutics for Meesmann Corneal Dystrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Meesmann Corneal Dystrophy

Genetic Tests for Meesmann Corneal Dystrophy

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Genetic tests related to Meesmann Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Meesmann22 KRT12, KRT3
2 Meesman's Corneal Dystrophy24

Anatomical Context for Meesmann Corneal Dystrophy

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MalaCards organs/tissues related to Meesmann Corneal Dystrophy:

33
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:

67 (show all 19)
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
13KRT12p.Met129ValVAR_072069
14KRT12p.Leu132ProVAR_072070
15KRT12p.Leu140GlnVAR_072071
16KRT12p.Arg430ProVAR_072072
17KRT12p.Leu433ArgVAR_072073
18KRT3p.Glu509LysVAR_003868rs57872071
19KRT3p.Arg503ProVAR_031327rs60410063

Clinvar genetic disease variations for Meesmann Corneal Dystrophy:

5
id Gene Variation 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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Search GEO for disease gene expression data for Meesmann Corneal Dystrophy.

Pathways for genes affiliated with Meesmann Corneal Dystrophy

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GO Terms for genes affiliated with Meesmann Corneal Dystrophy

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Cellular components related to Meesmann Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.1KRT12, KRT3

Molecular functions related to Meesmann Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.1KRT12, KRT3

Sources for Meesmann Corneal Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet