MECD
MCID: MSM001
MIFTS: 40

Meesmann Corneal Dystrophy (MECD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Meesmann Corneal Dystrophy

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Meesmann Corneal Dystrophy:

Name: Meesmann Corneal Dystrophy 52 11 48 24 25 54 70 12 13
Mecd 11 25 54 70
Corneal Dystrophy, Juvenile Epithelial of Meesmann 48 25 39
Juvenile Hereditary Epithelial Dystrophy 11 48 25
Corneal Dystrophy, Meesmann 52 24 70
Meesmann Corneal Epithelial Dystrophy 48 25
Meesmann Epithelial Corneal Dystrophy 25 70
Meesman's Corneal Dystrophy 25 27
 
Juvenile Hereditary Epithelial Dystrophy of Meesmann 54
Corneal Dystrophy, Juvenile Epithelial, of Meesmann 24
Juvenile Epithelial Corneal Dystrophy of Meesmann 70
Corneal Dystrophy, Meesmann Epithelial 25
Stocker-Holt Dystrophy 11
Meesman Dystrophy 48
Epithelial 24
Mcd 70

Characteristics:

Orphanet epidemiological data:

54
meesmann corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
meesmann corneal dystrophy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: nonprogressive

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 122100
Disease Ontology11 DOID:0060451
ICD1030 H18.52
ICD9CM32 371.51
MeSH39 D053559
NCIt45 C84795
SNOMED-CT62 1674008, 193833008
Orphanet54 ORPHA98954
MESH via Orphanet40 D053559
UMLS via Orphanet69 C0339277
ICD10 via Orphanet31 H18.5
MedGen37 C0339277

Summaries for Meesmann Corneal Dystrophy

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NIH Rare Diseases:48 Meesmann corneal dystrophy (mecd) is a rare genetic condition affecting the clear front covering of the eye (cornea). it is characterized by the development of multiple tiny round cysts in the outermost layer of the cornea (corneal epithelium). over time, these cysts can break open (rupture) and cause irritation and erosions. symptoms usually appear around adulthood and may include light sensitivity (photophobia), redness, and pain. vision remains good in most individuals, but some individuals can have temporary episodes of blurred vision. mecd can be caused by mutations in the either the krt3 gene or the krt12 gene and is inherited in an autosomal dominant fashion. while there is no cure for mecd, symptoms are usually effectively managed with use of lubricating eye drops. last updated: 11/8/2016

MalaCards based summary: Meesmann Corneal Dystrophy, also known as MECD, is related to epithelial basement membrane dystrophy and epithelial-myoepithelial carcinoma, and has symptoms including corneal dystrophy and punctate opacification of the cornea. An important gene associated with Meesmann Corneal Dystrophy is KRT12 (Keratin 12). Affiliated tissues include eye, and related mouse phenotype vision/eye.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 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.

OMIM:52 Meesmann corneal dystrophy is a dominantly inherited disorder characterized by fragility of the anterior corneal... (122100) more...

Wikipedia:71 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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Diseases related to Meesmann Corneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1epithelial basement membrane dystrophy32.8CHST6, KRT3, TGFBI
2epithelial-myoepithelial carcinoma12.1
3focal epithelial hyperplasia12.1
4epithelial recurrent erosion dystrophy12.1
5calcifying epithelial odontogenic tumor12.0
6corneal dystrophy, epithelial basement membrane12.0
7mixed epithelial stromal tumour12.0
8ovarian epithelial cancer11.9
9thymic epithelial tumor11.9
10spindle epithelial tumor with thymus-like differentiation tumor11.8
11malignant epithelial mesothelioma11.8
12corneal dystrophy, lisch epithelial11.8
13ovary epithelial cancer11.8
14epithelial predominant wilms' tumor11.8
15infectious epithelial keratitis11.7
16punctate epithelial keratoconjunctivitis11.7
17malignant ovarian surface epithelial-stromal neoplasm11.7
18mixed epithelial tumor of ovary11.7
19epithelial malignant thymoma11.7
20epithelial and subepithelial dystrophy11.7
21epithelial-stromal tgfbi dystrophy11.7
22epithelial predominant pulmonary blastoma11.7
23flat ductal epithelial atypia11.7
24ovary mixed epithelial carcinoma11.7
25malignant ovarian mixed epithelial neoplasm11.7
26mixed epithelial/mesenchymal metaplastic breast carcinoma11.7
27borderline epithelial tumor of ovary11.7
28malignant epithelial tumor of salivary glands11.6
29multicentric castleman disease11.6
30metaphyseal chondrodysplasia, schmid type11.6
31kaposi sarcoma11.5
32holocarboxylase synthetase deficiency11.5
33diarrhea 5, with tufting enteropathy, congenital11.5
34macular corneal dystrophy11.5
35hepatocellular carcinoma11.4
36biotinidase deficiency11.4
37ovarian cancer11.3
38ovarian cancer, somatic11.3
39cystic fibrosis11.3
40thymoma, familial11.2
41malonyl-coa decarboxylase deficiency11.2
42breast cancer11.1
43adult mesoblastic nephroma11.1
44multiple carboxylase deficiency11.1
45adenoma11.1
46adenocarcinoma11.1
47limbal stem cell deficiency11.1
48lymphoepithelioma-like carcinoma11.0
49squamous cell carcinoma11.0
50thymoma11.0

Graphical network of the top 20 diseases related to Meesmann Corneal Dystrophy:



Diseases related to meesmann corneal dystrophy

Symptoms & Phenotypes for Meesmann Corneal Dystrophy

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Symptoms by clinical synopsis from OMIM:

122100

Clinical features from OMIM:

122100

Human phenotypes related to Meesmann Corneal Dystrophy:

 64
id Description HPO Frequency HPO Source Accession
1 corneal dystrophy64 HP:0001131
2 punctate opacification of the cornea64 HP:0007856

MGI Mouse Phenotypes related to Meesmann Corneal Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.0CDON, CHST6, COL8A2, KRT12, TGFBI

Drugs & Therapeutics for Meesmann Corneal Dystrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Meesmann Corneal Dystrophy


Cochrane evidence based reviews: corneal dystrophy, juvenile epithelial of meesmann

Genetic Tests for Meesmann Corneal Dystrophy

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Genetic tests related to Meesmann Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Meesman's Corneal Dystrophy27
2 Corneal Dystrophy, Meesmann24 KRT12, KRT3

Anatomical Context for Meesmann Corneal Dystrophy

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MalaCards organs/tissues related to Meesmann Corneal Dystrophy:

36
Eye

Publications for Meesmann Corneal Dystrophy

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Articles related to Meesmann Corneal Dystrophy:

(show all 12)
idTitleAuthorsYear
1
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. (26788030)
2015
2
KRT12 Mutations and InA Vivo Confocal Microscopy in Two Japanese Families With Meesmann Corneal Dystrophy. (24099278)
2014
3
Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. (22737341)
2010
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
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
6
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. (18661274)
2008
7
Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. (17068472)
2006
8
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (16227835)
2005
9
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. (16352477)
2005
10
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
2005
11
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. (11024418)
2000
12
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:

70 (show all 19)
id Symbol AA change Variation ID SNP ID
1KRT12p.Arg135ThrVAR_003834rs57218384
2KRT12p.Val143LeuVAR_003835rs58343600
3KRT12p.Arg135IleVAR_008525rs57218384
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_072069rs267607387
14KRT12p.Leu132ProVAR_072070
15KRT12p.Leu140GlnVAR_072071
16KRT12p.Arg430ProVAR_072072rs62635290
17KRT12p.Leu433ArgVAR_072073rs267607386
18KRT3p.Glu509LysVAR_003868rs57872071
19KRT3p.Arg503ProVAR_031327rs60410063

Clinvar genetic disease variations for Meesmann Corneal Dystrophy:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1KRT3NM_ 057088.2(KRT3): c.1525G> A (p.Glu509Lys)SNVPathogenicrs57872071GRCh37Chr 12, 53185000: 53185000
2KRT12NM_ 000223.3(KRT12): c.395T> C (p.Leu132Pro)SNVPathogenicrs886038212GRCh37Chr 17, 39023044: 39023044
3KRT3NM_ 057088.2(KRT3): c.1493A> T (p.Glu498Val)SNVPathogenicrs267607431GRCh37Chr 12, 53185032: 53185032
4KRT3NM_ 057088.2(KRT3): c.1508G> C (p.Arg503Pro)SNVPathogenicrs60410063GRCh37Chr 12, 53185017: 53185017
5KRT12NM_ 000223.3(KRT12): c.404G> C (p.Arg135Thr)SNVPathogenicrs57218384GRCh37Chr 17, 39023035: 39023035
6KRT12NM_ 000223.3(KRT12): c.427G> C (p.Val143Leu)SNVPathogenicrs58343600GRCh37Chr 17, 39023012: 39023012
7KRT12NM_ 000223.3(KRT12): c.403A> G (p.Arg135Gly)SNVPathogenicrs58410481GRCh37Chr 17, 39023036: 39023036
8KRT12NM_ 000223.3(KRT12): c.404G> T (p.Arg135Ile)SNVPathogenicrs57218384GRCh37Chr 17, 39023035: 39023035
9KRT12NM_ 000223.3(KRT12): c.1285T> G (p.Tyr429Asp)SNVPathogenicrs58162394GRCh37Chr 17, 39019406: 39019406
10KRT12NM_ 000223.3(KRT12): c.419T> G (p.Leu140Arg)SNVPathogenicrs58918655GRCh37Chr 17, 39023020: 39023020
11KRT12NM_ 000223.3(KRT12): c.386T> C (p.Met129Thr)SNVPathogenicrs28936695GRCh37Chr 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
1basement membraneGO:000560410.0COL8A2, TGFBI
2centrioleGO:00058149.9CEP152, CNTLN
3extracellular matrixGO:00310128.9CDON, COL8A2, TGFBI

Biological processes related to Meesmann Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cornificationGO:00702689.8KRT12, KRT3

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

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:00306749.1CNTLN, COL8A2

Sources for Meesmann Corneal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet