MECD
MCID: MSM001
MIFTS: 40

Meesmann Corneal Dystrophy (MECD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Meesmann Corneal Dystrophy

Aliases & Descriptions for Meesmann Corneal Dystrophy:

Name: Meesmann Corneal Dystrophy 54 12 50 24 25 56 66 13 14
Mecd 12 25 56 66
Corneal Dystrophy, Juvenile Epithelial of Meesmann 50 25 42
Juvenile Hereditary Epithelial Dystrophy 12 50 25
Corneal Dystrophy, Meesmann 54 24 66
Meesmann Corneal Epithelial Dystrophy 50 25
Meesmann Epithelial Corneal Dystrophy 25 66
Meesman's Corneal Dystrophy 25 29
Juvenile Hereditary Epithelial Dystrophy of Meesmann 56
Corneal Dystrophy, Juvenile Epithelial, of Meesmann 24
Juvenile Epithelial Corneal Dystrophy of Meesmann 66
Corneal Dystrophy, Meesmann Epithelial 25
Stocker-Holt Dystrophy 12
Meesman Dystrophy 50
Epithelial 24
Mcd 66

Characteristics:

Orphanet epidemiological data:

56
meesmann corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
meesmann corneal dystrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 122100
Disease Ontology 12 DOID:0060451
ICD10 33 H18.52
ICD9CM 35 371.51
MeSH 42 D053559
NCIt 47 C84795
SNOMED-CT 64 1674008 193833008
Orphanet 56 ORPHA98954
MESH via Orphanet 43 D053559
UMLS via Orphanet 70 C0339277
ICD10 via Orphanet 34 H18.5
MedGen 40 C0339277
UMLS 69 C0339277

Summaries for Meesmann Corneal Dystrophy

NIH Rare Diseases : 50 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 phenotype is vision/eye.

UniProtKB/Swiss-Prot : 66 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 : 54 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

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

(show top 50) (show all 96)
id Related Disease Score Top Affiliating Genes
1 epithelial basement membrane dystrophy 32.8 CHST6 KRT3 TGFBI
2 epithelial-myoepithelial carcinoma 12.1
3 focal epithelial hyperplasia 12.1
4 epithelial recurrent erosion dystrophy 12.1
5 calcifying epithelial odontogenic tumor 12.0
6 corneal dystrophy, epithelial basement membrane 12.0
7 mixed epithelial stromal tumour 12.0
8 ovarian epithelial cancer 11.9
9 thymic epithelial tumor 11.9
10 spindle epithelial tumor with thymus-like differentiation tumor 11.8
11 malignant epithelial mesothelioma 11.8
12 corneal dystrophy, lisch epithelial 11.8
13 epithelial predominant wilms' tumor 11.8
14 ovary epithelial cancer 11.8
15 infectious epithelial keratitis 11.7
16 epithelial malignant thymoma 11.7
17 punctate epithelial keratoconjunctivitis 11.7
18 malignant ovarian surface epithelial-stromal neoplasm 11.7
19 mixed epithelial tumor of ovary 11.7
20 mixed epithelial/mesenchymal metaplastic breast carcinoma 11.7
21 borderline epithelial tumor of ovary 11.7
22 epithelial predominant pulmonary blastoma 11.7
23 flat ductal epithelial atypia 11.7
24 epithelial and subepithelial dystrophy 11.7
25 ovary mixed epithelial carcinoma 11.7
26 epithelial-stromal tgfbi dystrophy 11.7
27 malignant ovarian mixed epithelial neoplasm 11.7
28 malignant epithelial tumor of salivary glands 11.6
29 multicentric castleman disease 11.6
30 metaphyseal chondrodysplasia, schmid type 11.6
31 kaposi sarcoma 11.5
32 holocarboxylase synthetase deficiency 11.5
33 diarrhea 5, with tufting enteropathy, congenital 11.5
34 macular corneal dystrophy 11.5
35 hepatocellular carcinoma 11.4
36 biotinidase deficiency 11.4
37 ovarian cancer 11.3
38 ovarian cancer, somatic 11.3
39 cystic fibrosis 11.3
40 thymoma, familial 11.2
41 malonyl-coa decarboxylase deficiency 11.2
42 breast cancer 11.1
43 adult mesoblastic nephroma 11.1
44 multiple carboxylase deficiency 11.1
45 adenoma 11.1
46 adenocarcinoma 11.1
47 limbal stem cell deficiency 11.1
48 lymphoepithelioma-like carcinoma 11.0
49 squamous cell carcinoma 11.0
50 thymoma 11.0

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



Diseases related to Meesmann Corneal Dystrophy

Symptoms & Phenotypes for Meesmann Corneal Dystrophy

Symptoms by clinical synopsis from OMIM:

122100

Clinical features from OMIM:

122100

Human phenotypes related to Meesmann Corneal Dystrophy:

32
id Description HPO Frequency HPO Source Accession
1 corneal dystrophy 32 HP:0001131
2 punctate opacification of the cornea 32 HP:0007856

MGI Mouse Phenotypes related to Meesmann Corneal Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CDON CHST6 COL8A2 KRT12 TGFBI

Drugs & Therapeutics for Meesmann Corneal Dystrophy

Search Clinical Trials , NIH Clinical Center for Meesmann Corneal Dystrophy

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

Genetic Tests for Meesmann Corneal Dystrophy

Genetic tests related to Meesmann Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Meesman's Corneal Dystrophy 29
2 Corneal Dystrophy, Meesmann 24 KRT12 KRT3

Anatomical Context for Meesmann Corneal Dystrophy

MalaCards organs/tissues related to Meesmann Corneal Dystrophy:

39
Eye

Publications for Meesmann Corneal Dystrophy

Articles related to Meesmann Corneal Dystrophy:

(show all 12)
id Title Authors Year
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

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

66 (show all 19)
id Symbol AA change Variation ID SNP ID
1 KRT12 p.Arg135Thr VAR_003834 rs57218384
2 KRT12 p.Val143Leu VAR_003835 rs58343600
3 KRT12 p.Arg135Ile VAR_008525 rs57218384
4 KRT12 p.Arg135Gly VAR_008526 rs58410481
5 KRT12 p.Leu140Arg VAR_008527 rs58918655
6 KRT12 p.Tyr429Asp VAR_008528 rs58162394
7 KRT12 p.Met129Thr VAR_013126 rs28936695
8 KRT12 p.Gln130Pro VAR_013127 rs58864803
9 KRT12 p.Arg135Ser VAR_031394 rs61282718
10 KRT12 p.Ala137Pro VAR_031395 rs58038639
11 KRT12 p.Ile426Ser VAR_031397 rs59350319
12 KRT12 p.Tyr429Cys VAR_031398 rs59202432
13 KRT12 p.Met129Val VAR_072069 rs267607387
14 KRT12 p.Leu132Pro VAR_072070
15 KRT12 p.Leu140Gln VAR_072071
16 KRT12 p.Arg430Pro VAR_072072 rs62635290
17 KRT12 p.Leu433Arg VAR_072073 rs267607386
18 KRT3 p.Glu509Lys VAR_003868 rs57872071
19 KRT3 p.Arg503Pro VAR_031327 rs60410063

ClinVar genetic disease variations for Meesmann Corneal Dystrophy:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT12 NM_000223.3(KRT12): c.404G> C (p.Arg135Thr) single nucleotide variant Pathogenic rs57218384 GRCh37 Chromosome 17, 39023035: 39023035
2 KRT12 NM_000223.3(KRT12): c.427G> C (p.Val143Leu) single nucleotide variant Pathogenic rs58343600 GRCh37 Chromosome 17, 39023012: 39023012
3 KRT12 NM_000223.3(KRT12): c.403A> G (p.Arg135Gly) single nucleotide variant Pathogenic rs58410481 GRCh37 Chromosome 17, 39023036: 39023036
4 KRT12 NM_000223.3(KRT12): c.404G> T (p.Arg135Ile) single nucleotide variant Pathogenic rs57218384 GRCh37 Chromosome 17, 39023035: 39023035
5 KRT12 NM_000223.3(KRT12): c.1285T> G (p.Tyr429Asp) single nucleotide variant Pathogenic rs58162394 GRCh37 Chromosome 17, 39019406: 39019406
6 KRT12 NM_000223.3(KRT12): c.419T> G (p.Leu140Arg) single nucleotide variant Pathogenic rs58918655 GRCh37 Chromosome 17, 39023020: 39023020
7 KRT12 NM_000223.3(KRT12): c.386T> C (p.Met129Thr) single nucleotide variant Pathogenic rs28936695 GRCh37 Chromosome 17, 39023053: 39023053
8 KRT3 NM_057088.2(KRT3): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic rs57872071 GRCh37 Chromosome 12, 53185000: 53185000
9 KRT3 NM_057088.2(KRT3): c.1493A> T (p.Glu498Val) single nucleotide variant Pathogenic rs267607431 GRCh37 Chromosome 12, 53185032: 53185032
10 KRT3 NM_057088.2(KRT3): c.1508G> C (p.Arg503Pro) single nucleotide variant Pathogenic rs60410063 GRCh37 Chromosome 12, 53185017: 53185017
11 KRT12 NM_000223.3(KRT12): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs886038212 GRCh37 Chromosome 17, 39023044: 39023044

Expression for Meesmann Corneal Dystrophy

Search GEO for disease gene expression data for Meesmann Corneal Dystrophy.

Pathways for Meesmann Corneal Dystrophy

GO Terms for Meesmann Corneal Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 centriole GO:0005814 9.16 CEP152 CNTLN
2 basement membrane GO:0005604 8.96 COL8A2 TGFBI
3 extracellular matrix GO:0031012 8.8 CDON COL8A2 TGFBI

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

id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.62 KRT12 KRT3

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

id Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 8.62 CNTLN COL8A2

Sources for Meesmann Corneal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....