MCID: MSM001
MIFTS: 33

Meesmann Corneal Dystrophy malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Meesmann Corneal Dystrophy

About this section


NIH Rare Diseases:41 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.  overtime these cysts can rupture and cause erosions. the erosions may result in light sensitivity, redness, and pain. vision remains good in most cases. meesmann corneal dystrophy can be caused by mutations in the krt3 or krt12 gene. it is inherited in an autosomal dominant fashion. click here to view an image of the eye which includes an illustration of the epithelial membrane of the cornea. last updated: 7/30/2009

MalaCards based summary: Meesmann Corneal Dystrophy, also known as mecd, is related to corneal dystrophy and keratoconus, and has symptoms including autosomal dominant inheritance, corneal dystrophy and nonprogressive disorder. An important gene associated with Meesmann Corneal Dystrophy is KRT12 (keratin 12). The compounds arginine and proline have been mentioned in the context of this disorder. Affiliated tissues include eye.

Genetics Home Reference:21 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:45 Meesmann corneal dystrophy is a dominantly inherited disorder characterized by fragility of the anterior corneal... (122100) more...

Wikipedia:63 Meesmann corneal dystrophy, also Stocker-Holt dystrophy, is a type of corneal dystrophy and a keratin... more...

Aliases & Classifications for Meesmann Corneal Dystrophy

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Meesmann Corneal Dystrophy, Aliases & Descriptions:

Name: Meesmann Corneal Dystrophy 45 10 41 21 47
Mecd 41 21 47
Juvenile Hereditary Epithelial Dystrophy of Meesmann 41 47
Corneal Dystrophy, Juvenile Epithelial of Meesmann 41 21
Juvenile Hereditary Epithelial Dystrophy 41 21
Meesmann Corneal Epithelial Dystrophy 41 21
 
Meesman's Corneal Dystrophy 21 22
Corneal Dystrophy, Meesmann Epithelial 21
Meesmann Epithelial Corneal Dystrophy 21
Corneal Dystrophy, Meesmann 45
Meesman Dystrophy 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
meesmann corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 122100
Orphanet47 98954
MESH via Orphanet34 D053559
ICD10 via Orphanet26 H18.5
UMLS via Orphanet61 C0339277

Related Diseases for Meesmann Corneal Dystrophy

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy30.9KRT12, KRT3
2keratoconus9.9KRT3, KRT12
3corneal disease9.8KRT3, KRT12

Symptoms for Meesmann Corneal Dystrophy

About this section

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 disorder HP:0003680
4 punctate opacification of the cornea HP:0007856

Drugs & Therapeutics for Meesmann Corneal Dystrophy

About this section

Drug clinical trials:

Search ClinicalTrials for Meesmann Corneal Dystrophy

Search NIH Clinical Center for Meesmann Corneal Dystrophy

Genetic Tests for Meesmann Corneal Dystrophy

About this section

Genetic tests related to Meesmann Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Meesman's Corneal Dystrophy22

Anatomical Context for Meesmann Corneal Dystrophy

About this section

MalaCards organs/tissues related to Meesmann Corneal Dystrophy:

31
Eye

Animal Models for Meesmann Corneal Dystrophy or affiliated genes

About this section

Publications for Meesmann Corneal Dystrophy

About this section

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

About this section

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

62 (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:

6
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

About this section
Search GEO for disease gene expression data for Meesmann Corneal Dystrophy.

Pathways for genes affiliated with Meesmann Corneal Dystrophy

About this section

Compounds for genes affiliated with Meesmann Corneal Dystrophy

About this section
Sources:
43Novoseek
See all sources

Compounds related to Meesmann Corneal Dystrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1arginine439.1KRT3, KRT12
2proline438.8KRT3, KRT12

GO Terms for genes affiliated with Meesmann Corneal Dystrophy

About this section

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

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

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

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

Products for genes affiliated with Meesmann Corneal Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Meesmann Corneal Dystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet