MECD
MCID: CRN286
MIFTS: 41

Corneal Dystrophy, Meesmann (MECD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Meesmann

MalaCards integrated aliases for Corneal Dystrophy, Meesmann:

Name: Corneal Dystrophy, Meesmann 57 75
Meesmann Corneal Dystrophy 57 12 53 25 59 75 37 13 15
Mecd 57 12 25 59 75
Corneal Dystrophy, Juvenile Epithelial of Meesmann 53 25 44
Juvenile Hereditary Epithelial Dystrophy 12 53 25
Meesman's Corneal Dystrophy 25 29 6
Corneal Dystrophy, Meesmann Epithelial 57 25
Meesmann Corneal Epithelial Dystrophy 53 25
Meesmann Epithelial Corneal Dystrophy 25 75
Juvenile Hereditary Epithelial Dystrophy of Meesmann 59
Corneal Dystrophy, Juvenile Epithelial, of Meesmann 57
Juvenile Epithelial Corneal Dystrophy of Meesmann 75
Dystrophy, Corneal, Meesmann 40
Stocker-Holt Dystrophy 12
Meesman Dystrophy 53
Mcd 75

Characteristics:

Orphanet epidemiological data:

59
meesmann corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 122100
Disease Ontology 12 DOID:0060451
ICD10 33 H18.52
ICD9CM 35 371.51
MeSH 44 D053559
NCIt 50 C84795
SNOMED-CT 68 1674008
Orphanet 59 ORPHA98954
MESH via Orphanet 45 D053559
UMLS via Orphanet 74 C0339277
ICD10 via Orphanet 34 H18.5
MedGen 42 C0339277
KEGG 37 H00726
UMLS 73 C0339277

Summaries for Corneal Dystrophy, Meesmann

NIH Rare Diseases : 53 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.

MalaCards based summary : Corneal Dystrophy, Meesmann, also known as meesmann corneal dystrophy, is related to macular dystrophy, corneal and corneal dystrophy. An important gene associated with Corneal Dystrophy, Meesmann is KRT12 (Keratin 12). Affiliated tissues include eye, brain and liver, and related phenotypes are photophobia and corneal dystrophy

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 : 57 Meesmann corneal dystrophy is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity (summary by Szaflik et al., 2008). (122100)

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Corneal Dystrophy, Meesmann

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, corneal 32.7 TGFBI KRT12 CHST6
2 corneal dystrophy 29.9 TGFBI KRT3 KRT12 COL8A2 CHST6
3 multicentric castleman disease 12.1
4 malonyl-coa decarboxylase deficiency 12.0
5 multiple carboxylase deficiency 11.9
6 metaphyseal chondrodysplasia, schmid type 11.8
7 kaposi sarcoma 11.8
8 holocarboxylase synthetase deficiency 11.8
9 biotinidase deficiency 11.7
10 focal segmental glomerulosclerosis 11.5
11 lipoid nephrosis 11.5
12 c1q nephropathy 11.1
13 metaphyseal dysplasia, spahr type 11.0
14 cortical malformations, occipital 11.0
15 microlissencephaly 11.0
16 castleman disease 10.3
17 sarcoma 10.2
18 limbal stem cell deficiency 10.1 KRT3 KRT12
19 tyrosinemia, type ii 10.1 KRT12 CHST6
20 focal segmental glomerulosclerosis 1 10.1
21 glomerulonephritis 10.1
22 liver disease 10.1
23 nonalcoholic fatty liver disease 10.1
24 nephrotic syndrome 10.1
25 fatty liver disease 10.1
26 kshv inflammatory cytokine syndrome 10.1
27 astigmatism 10.0 KRT3 KRT12
28 corneal degeneration 10.0 TGFBI KRT12
29 corneal dystrophy, avellino type 10.0 TGFBI CHST6
30 stromal dystrophy 10.0 TGFBI CHST6
31 epithelial basement membrane dystrophy 9.9 TGFBI COL8A2
32 microcephaly 3, primary, autosomal recessive 9.9 CNTLN CEP152
33 microcephaly 6, primary, autosomal recessive 9.9 CNTLN CEP152
34 systemic lupus erythematosus 9.9
35 cortical dysplasia, complex, with other brain malformations 7 9.9
36 poems syndrome 9.9
37 epilepsy 9.9
38 lupus erythematosus 9.9
39 nonalcoholic steatohepatitis 9.9
40 microcephaly 4, primary, autosomal recessive 9.9 CNTLN CEP152
41 microcephaly 5, primary, autosomal recessive 9.9 CNTLN CEP152
42 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.9 CNTLN CEP152
43 microcephaly 7, primary, autosomal recessive 9.9 CNTLN CEP152
44 fuchs' endothelial dystrophy 9.9 TGFBI COL8A2
45 epithelial-stromal tgfbi dystrophy 9.9 TGFBI KRT12 CHST6
46 corneal dystrophy, gelatinous drop-like 9.9 TGFBI KRT12 CHST6
47 corneal dystrophy, posterior polymorphous, 1 9.8 TGFBI COL8A2
48 corneal granular dystrophy 9.7 TGFBI KRT3 KRT12 CHST6
49 epithelial and subepithelial dystrophy 9.7 TGFBI KRT3 KRT12 CHST6
50 seckel syndrome 9.7 CNTLN CEP152

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



Diseases related to Corneal Dystrophy, Meesmann

Symptoms & Phenotypes for Corneal Dystrophy, Meesmann

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
corneal dystrophy, nonprogressive
fine punctate corneal opacities
foreign body sensation, episodic
tearing
more

Clinical features from OMIM:

122100

Human phenotypes related to Corneal Dystrophy, Meesmann:

32
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 corneal dystrophy 32 HP:0001131
3 reduced visual acuity 32 HP:0007663
4 punctate opacification of the cornea 32 HP:0007856
5 epiphora 32 HP:0009926

MGI Mouse Phenotypes related to Corneal Dystrophy, Meesmann:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CDON CHST6 COL8A2 KRT12 TGFBI

Drugs & Therapeutics for Corneal Dystrophy, Meesmann

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Meesmann

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

Genetic Tests for Corneal Dystrophy, Meesmann

Genetic tests related to Corneal Dystrophy, Meesmann:

# Genetic test Affiliating Genes
1 Meesman's Corneal Dystrophy 29 KRT12 KRT3

Anatomical Context for Corneal Dystrophy, Meesmann

MalaCards organs/tissues related to Corneal Dystrophy, Meesmann:

41
Eye, Brain, Liver, Endothelial

Publications for Corneal Dystrophy, Meesmann

Articles related to Corneal Dystrophy, Meesmann:

(show all 13)
# Title Authors Year
1
In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. ( 30535821 )
2018
2
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. ( 26788030 )
2015
3
KRT12 Mutations and InA Vivo Confocal Microscopy in Two Japanese Families With Meesmann Corneal Dystrophy. ( 24099278 )
2014
4
Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. ( 22737341 )
2010
5
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. ( 18661274 )
2008
6
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. ( 18806880 )
2008
7
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. ( 18362674 )
2008
8
Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. ( 17068472 )
2006
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
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. ( 16015084 )
2005
12
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. ( 11024418 )
2000
13
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. ( 10612503 )
1999

Variations for Corneal Dystrophy, Meesmann

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

75 (show all 19)
# 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 rs886038212
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 Corneal Dystrophy, Meesmann:

6 (show all 22)
# 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.404G> C (p.Arg135Thr) single nucleotide variant Pathogenic rs57218384 GRCh38 Chromosome 17, 40866783: 40866783
3 KRT12 NM_000223.3(KRT12): c.427G> C (p.Val143Leu) single nucleotide variant Pathogenic rs58343600 GRCh37 Chromosome 17, 39023012: 39023012
4 KRT12 NM_000223.3(KRT12): c.427G> C (p.Val143Leu) single nucleotide variant Pathogenic rs58343600 GRCh38 Chromosome 17, 40866760: 40866760
5 KRT12 NM_000223.3(KRT12): c.403A> G (p.Arg135Gly) single nucleotide variant Pathogenic rs58410481 GRCh37 Chromosome 17, 39023036: 39023036
6 KRT12 NM_000223.3(KRT12): c.403A> G (p.Arg135Gly) single nucleotide variant Pathogenic rs58410481 GRCh38 Chromosome 17, 40866784: 40866784
7 KRT12 NM_000223.3(KRT12): c.404G> T (p.Arg135Ile) single nucleotide variant Pathogenic rs57218384 GRCh37 Chromosome 17, 39023035: 39023035
8 KRT12 NM_000223.3(KRT12): c.404G> T (p.Arg135Ile) single nucleotide variant Pathogenic rs57218384 GRCh38 Chromosome 17, 40866783: 40866783
9 KRT12 NM_000223.3(KRT12): c.1285T> G (p.Tyr429Asp) single nucleotide variant Pathogenic rs58162394 GRCh37 Chromosome 17, 39019406: 39019406
10 KRT12 NM_000223.3(KRT12): c.1285T> G (p.Tyr429Asp) single nucleotide variant Pathogenic rs58162394 GRCh38 Chromosome 17, 40863154: 40863154
11 KRT12 NM_000223.3(KRT12): c.419T> G (p.Leu140Arg) single nucleotide variant Pathogenic rs58918655 GRCh37 Chromosome 17, 39023020: 39023020
12 KRT12 NM_000223.3(KRT12): c.419T> G (p.Leu140Arg) single nucleotide variant Pathogenic rs58918655 GRCh38 Chromosome 17, 40866768: 40866768
13 KRT12 NM_000223.3(KRT12): c.386T> C (p.Met129Thr) single nucleotide variant Pathogenic rs28936695 GRCh37 Chromosome 17, 39023053: 39023053
14 KRT12 NM_000223.3(KRT12): c.386T> C (p.Met129Thr) single nucleotide variant Pathogenic rs28936695 GRCh38 Chromosome 17, 40866801: 40866801
15 KRT3 NM_057088.2(KRT3): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic rs57872071 GRCh37 Chromosome 12, 53185000: 53185000
16 KRT3 NM_057088.2(KRT3): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic rs57872071 GRCh38 Chromosome 12, 52791216: 52791216
17 KRT3 NM_057088.2(KRT3): c.1493A> T (p.Glu498Val) single nucleotide variant Pathogenic rs267607431 GRCh37 Chromosome 12, 53185032: 53185032
18 KRT3 NM_057088.2(KRT3): c.1493A> T (p.Glu498Val) single nucleotide variant Pathogenic rs267607431 GRCh38 Chromosome 12, 52791248: 52791248
19 KRT3 NM_057088.2(KRT3): c.1508G> C (p.Arg503Pro) single nucleotide variant Pathogenic rs60410063 GRCh37 Chromosome 12, 53185017: 53185017
20 KRT3 NM_057088.2(KRT3): c.1508G> C (p.Arg503Pro) single nucleotide variant Pathogenic rs60410063 GRCh38 Chromosome 12, 52791233: 52791233
21 KRT12 NM_000223.3(KRT12): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs886038212 GRCh37 Chromosome 17, 39023044: 39023044
22 KRT12 NM_000223.3(KRT12): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs886038212 GRCh38 Chromosome 17, 40866792: 40866792

Expression for Corneal Dystrophy, Meesmann

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

Pathways for Corneal Dystrophy, Meesmann

GO Terms for Corneal Dystrophy, Meesmann

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

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.96 COL8A2 TGFBI
2 collagen-containing extracellular matrix GO:0062023 8.8 CDON COL8A2 TGFBI

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

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

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL8A2 TGFBI
2 protein binding, bridging GO:0030674 8.62 CNTLN COL8A2

Sources for Corneal Dystrophy, Meesmann

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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