MCID: MSM001
MIFTS: 43

Meesmann Corneal Dystrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Meesmann Corneal Dystrophy

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 36MeSH, 24GTR, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Meesmann Corneal Dystrophy:

Name: Meesmann Corneal Dystrophy 49 10 11 45 22 23 12 51 67
Mecd 10 23 51 67
Corneal Dystrophy, Juvenile Epithelial of Meesmann 45 23 36
Juvenile Hereditary Epithelial Dystrophy 10 45 23
Meesmann Corneal Epithelial Dystrophy 45 23
Meesmann Epithelial Corneal Dystrophy 23 67
Corneal Dystrophy, Meesmann 22 67
Meesman's Corneal Dystrophy 23 24
Juvenile Hereditary Epithelial Dystrophy of Meesmann 51
 
Corneal Dystrophy, Juvenile Epithelial, of Meesmann 22
Juvenile Epithelial Corneal Dystrophy of Meesmann 67
Corneal Dystrophy, Meesmann Epithelial 23
Macular Dystrophy, Corneal Type 1 65
Stocker-Holt Dystrophy 10
Meesman Dystrophy 45
Malonic Aciduria 65
Epithelial 22
Mcd 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
meesmann corneal dystrophy:
Onset and clinical course: nonprogressive
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 122100
Disease Ontology10 DOID:0060451
ICD1027 H18.5
MeSH36 D053559
Orphanet51 98954
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 D053559
UMLS via Orphanet66 C0339277
MedGen34 C0339277
UMLS65 C0339277, C0342793, C1636149

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 mecd, is related to epithelial-stromal tgfbi dystrophy and corneal dystrophy, epithelial basement membrane, and has symptoms including punctate opacification of the cornea, corneal dystrophy and chronic constipation. An important gene associated with Meesmann Corneal Dystrophy is KRT12 (Keratin 12). Affiliated tissues include eye, ovary and breast, and related mouse phenotype vision/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

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.

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1epithelial-stromal tgfbi dystrophy33.2KRT12, KRT3
2corneal dystrophy, epithelial basement membrane30.1CHST6, COL8A2, KRT12, KRT3, SAT1, STS
3epithelial-myoepithelial carcinoma12.2
4focal epithelial hyperplasia12.1
5epithelial recurrent erosion dystrophy12.1
6epithelial basement membrane 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 predominant pulmonary blastoma11.8
23flat ductal epithelial atypia11.8
24ovary mixed epithelial carcinoma11.8
25malignant ovarian mixed epithelial neoplasm11.8
26mixed epithelial/mesenchymal metaplastic breast carcinoma11.8
27borderline epithelial tumor of ovary11.8
28benign epithelial tumor of salivary glands11.7
29malignant epithelial tumor of salivary glands11.7
30malignant mixed epithelial mesenchymal tumor of ovary11.7
31multicentric castleman disease11.6
32ovarian cancer11.4
33thymoma11.4
34holocarboxylase synthetase deficiency11.4
35hepatocellular carcinoma11.4
36cystic fibrosis11.3
37macular corneal dystrophy11.3
38malonyl-coa decarboxylase deficiency11.3
39biotinidase deficiency11.3
40north carolina macular dystrophy11.3
41tufting enteropathy11.3
42craniopharyngioma11.3
43ovarian cancer, somatic11.2
44adult mesoblastic nephroma11.2
45breast cancer11.2
46diarrhea 5, with tufting enteropathy, congenital11.1
47renal oncocytoma11.0
48adenomatoid tumor11.0
49mixed hepatoblastoma11.0
50metaphyseal chondrodysplasia, schmid 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 punctate opacification of the cornea HP:0007856
2 corneal dystrophy HP:0001131

UMLS symptoms related to Meesmann Corneal Dystrophy:


chronic constipation, vomiting, seizures, diarrhea, abdominal pain

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 Corneal Dystrophy, Meesmann22 KRT12, KRT3

Anatomical Context for Meesmann Corneal Dystrophy

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MalaCards organs/tissues related to Meesmann Corneal Dystrophy:

33
Eye, Ovary, Breast, Prostate, Salivary gland, Liver, Endothelial

Animal Models for Meesmann Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Meesmann Corneal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5CDON, CHST6, COL8A2, KRT12

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
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
5
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. (18806880)
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
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
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
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (16227835)
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:

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

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.3COL8A2, SAT1

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