MCID: MSM001
MIFTS: 42

Meesmann Corneal Dystrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Meesmann Corneal Dystrophy

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 28ICD10, 30ICD9CM, 43NCIt, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Meesmann Corneal Dystrophy:

Name: Meesmann Corneal Dystrophy 50 11 46 23 24 13 52 68 12
Mecd 11 24 52 68
Corneal Dystrophy, Juvenile Epithelial of Meesmann 46 24 37
Juvenile Hereditary Epithelial Dystrophy 11 46 24
Corneal Dystrophy, Meesmann 50 23 68
Meesmann Epithelial Corneal Dystrophy 24 68
Meesmann Corneal Epithelial Dystrophy 46 24
Meesman's Corneal Dystrophy 24 25
 
Juvenile Hereditary Epithelial Dystrophy of Meesmann 52
Corneal Dystrophy, Juvenile Epithelial, of Meesmann 23
Juvenile Epithelial Corneal Dystrophy of Meesmann 68
Corneal Dystrophy, Meesmann Epithelial 24
Stocker-Holt Dystrophy 11
Meesman Dystrophy 46
Epithelial 23
Mcd 68

Characteristics:

Orphanet epidemiological data:

52
meesmann corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
meesmann corneal dystrophy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: nonprogressive


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 122100
Disease Ontology11 DOID:0060451
ICD1028 H18.52
ICD9CM30 371.51
MeSH37 D053559
NCIt43 C84795
SNOMED-CT60 1674008, 193833008
Orphanet52 ORPHA98954
ICD10 via Orphanet29 H18.5
MESH via Orphanet38 D053559
UMLS via Orphanet67 C0339277
MedGen35 C0339277
UMLS66 C0339277

Summaries for Meesmann Corneal Dystrophy

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UniProtKB/Swiss-Prot:68 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 mecd, is related to epithelial basement membrane dystrophy and corneal dystrophy, epithelial basement membrane, 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.

NIH Rare Diseases:46 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

Genetics Home Reference:24 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:50 Meesmann corneal dystrophy is a dominantly inherited disorder characterized by fragility of the anterior corneal... (122100) more...

Wikipedia:69 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 193)
idRelated DiseaseScoreTop Affiliating Genes
1epithelial basement membrane dystrophy32.9CHST6, TGFBI
2corneal dystrophy, epithelial basement membrane31.3CHST6, COL8A2, KRT12, KRT3, TGFBI
3leber congenital amaurosis30.6COL8A2, KRT12, TGFBI
4epithelial-myoepithelial carcinoma12.2
5focal epithelial hyperplasia12.2
6epithelial recurrent erosion dystrophy12.1
7calcifying epithelial odontogenic tumor12.1
8ovarian epithelial cancer12.0
9mixed epithelial stromal tumour12.0
10thymic epithelial tumor12.0
11malignant epithelial mesothelioma11.9
12corneal dystrophy, lisch epithelial11.9
13ovary epithelial cancer11.9
14epithelial predominant wilms' tumor11.9
15spindle epithelial tumor with thymus-like differentiation tumor11.9
16infectious epithelial keratitis11.9
17punctate epithelial keratoconjunctivitis11.8
18malignant ovarian surface epithelial-stromal neoplasm11.8
19mixed epithelial tumor of ovary11.8
20epithelial malignant thymoma11.8
21epithelial and subepithelial dystrophy11.8
22epithelial-stromal tgfbi dystrophy11.8
23epithelial predominant pulmonary blastoma11.8
24flat ductal epithelial atypia11.8
25ovary mixed epithelial carcinoma11.8
26malignant ovarian mixed epithelial neoplasm11.8
27mixed epithelial/mesenchymal metaplastic breast carcinoma11.8
28borderline epithelial tumor of ovary11.8
29malignant mixed epithelial mesenchymal tumor of ovary11.8
30malignant epithelial tumor of salivary glands11.7
31ovarian cancer11.4
32multicentric castleman disease11.4
33holocarboxylase synthetase deficiency11.4
34kaposi sarcoma11.4
35hepatocellular carcinoma11.4
36cystic fibrosis11.3
37macular corneal dystrophy11.3
38malonyl-coa decarboxylase deficiency11.3
39biotinidase deficiency11.3
40diarrhea 5, with tufting enteropathy, congenital11.3
41thymoma, familial11.2
42adult mesoblastic nephroma11.2
43breast cancer11.2
44ovarian cancer, somatic11.1
45craniopharyngioma11.1
46renal oncocytoma11.0
47adenomatoid tumor11.0
48tufting enteropathy11.0
49mixed hepatoblastoma11.0
50macular dystrophy, retinal, 1, north carolina type11.0

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 corneal dystrophy HP:0001131
2 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


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 Dystrophy25
2 Corneal Dystrophy, Meesmann23 KRT12, KRT3

Anatomical Context for Meesmann Corneal Dystrophy

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MalaCards organs/tissues related to Meesmann Corneal Dystrophy:

34
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 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
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. (18661274)
2008
6
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
7
Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. (17068472)
2006
8
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
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
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. (16352477)
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:

68 (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
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:00058829.8KRT12, KRT3
2basement membraneGO:00056049.6COL8A2, TGFBI
3centrioleGO:00058149.1CEP152, CNTLN
4extracellular matrixGO:00310128.9CDON, COL8A2, TGFBI

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet