MECD1
MCID: CRN317
MIFTS: 43

Corneal Dystrophy, Meesmann, 1 (MECD1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Meesmann, 1

MalaCards integrated aliases for Corneal Dystrophy, Meesmann, 1:

Name: Corneal Dystrophy, Meesmann, 1 57
Meesmann Corneal Dystrophy 57 12 20 43 58 72 36 29 13 15
Mecd 57 12 43 58 72
Meesmann Corneal Dystrophy 1 57 12 29 6
Corneal Dystrophy, Juvenile Epithelial of Meesmann 20 43 44
Juvenile Hereditary Epithelial Dystrophy 12 20 43
Corneal Dystrophy, Meesmann Epithelial 57 43 72
Meesmann Corneal Epithelial Dystrophy 20 43
Meesmann Epithelial Corneal Dystrophy 43 72
Mecd1 57 72
Juvenile Hereditary Epithelial Dystrophy of Meesmann 58
Corneal Dystrophy, Juvenile Epithelial, of Meesmann 57
Juvenile Epithelial Corneal Dystrophy of Meesmann 72
Corneal Dystrophy, Meesmann Epithelial; Mecd 57
Corneal Dystrophy, Meesmann 1 72
Dystrophy, Corneal, Meesmann 39
Meesman's Corneal Dystrophy 43
Stocker-Holt Dystrophy 12
Meesman Dystrophy 20
Mcd 72

Characteristics:

Orphanet epidemiological data:

58
meesmann corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
corneal dystrophy, meesmann, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060451 DOID:0080670
OMIM® 57 122100
OMIM Phenotypic Series 57 PS122100
KEGG 36 H00726
ICD9CM 34 371.51
MeSH 44 D053559
NCIt 50 C84795
SNOMED-CT 67 193833008
ICD10 32 H18.52
MESH via Orphanet 45 D053559
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 71 C0339277
Orphanet 58 ORPHA98954
UMLS 70 C0339277

Summaries for Corneal Dystrophy, Meesmann, 1

MedlinePlus Genetics : 43 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.In people with Meesmann corneal dystrophy, cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred vision.

MalaCards based summary : Corneal Dystrophy, Meesmann, 1, also known as meesmann corneal dystrophy, is related to macular dystrophy, corneal and epithelial basement membrane dystrophy. An important gene associated with Corneal Dystrophy, Meesmann, 1 is KRT12 (Keratin 12). Affiliated tissues include eye, liver and endothelial, and related phenotypes are photophobia and corneal dystrophy

Disease Ontology : 12 An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.

GARD : 20 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.

OMIM® : 57 Meesmann corneal dystrophy-1 (MECD1) is a dominantly inherited disorder characterized by the presence of multitudinous microcysts within the anterior epithelium on slit lamp examination. The disorder can cause foreign body sensation and photophobia but is often asymptomatic and detected in the course of routine eye examination. Microcysts are evident even in asymptomatic individuals. Rarely, a more severe phenotype with corneal erosions and scarring can lead to significant loss of visual acuity requiring treatment by keratoplasty or corneal grafting. A subtle feature is the presence of gray serpiginous lines within the anterior epithelium (summary by Liao et al., 2011). (122100) (Updated 20-May-2021)

KEGG : 36 Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits.

UniProtKB/Swiss-Prot : 72 Corneal dystrophy, Meesmann 1: A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. 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. MECD1 inheritance is autosomal dominant.

Wikipedia : 73 Meesmann corneal dystrophy (MECD) is a rare hereditary autosomal dominant disease that is characterized... more...

Related Diseases for Corneal Dystrophy, Meesmann, 1

Diseases in the Corneal Dystrophy, Meesmann, 1 family:

Corneal Dystrophy, Meesmann, 2

Diseases related to Corneal Dystrophy, Meesmann, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, corneal 32.3 UBIAD1 TGFBI KRT3 KRT12 CHST6
2 epithelial basement membrane dystrophy 30.4 TGFBI KRT3 CHST6
3 lattice corneal dystrophy 30.3 TGFBI KRT3 KRT12 CHST6
4 corneal dystrophy, lisch epithelial 30.3 UBIAD1 KRT3 KRT12 CHST6
5 recurrent corneal erosion 30.1 TGFBI KRT3 KRT12 COL8A2 CHST6
6 corneal dystrophy, posterior polymorphous, 1 29.8 UBIAD1 TGFBI KRT3 KRT12 COL8A2 CHST6
7 corneal dystrophy 29.6 UBIAD1 TGFBI KRT3 KRT12 COL8A2 CHST6
8 multicentric castleman disease 11.5
9 malonyl-coa decarboxylase deficiency 11.5
10 multiple carboxylase deficiency 11.4
11 holocarboxylase synthetase deficiency 11.4
12 biotinidase deficiency 11.3
13 lipoid nephrosis 11.0
14 c1q nephropathy 11.0
15 corneal dystrophy, meesmann, 2 10.9
16 kaposi sarcoma 10.9
17 cortical malformations, occipital 10.9
18 focal segmental glomerulosclerosis 10 10.9
19 microlissencephaly 10.9
20 non-alcoholic fatty liver disease 10.5
21 non-alcoholic steatohepatitis 10.4
22 helix syndrome 10.4
23 fatty liver disease 10.3
24 fatty liver disease, nonalcoholic 1 10.3
25 ifap syndrome 2 10.3
26 limbal stem cell deficiency 10.3 KRT3 KRT12
27 stromal corneal dystrophy 10.2 UBIAD1 TGFBI
28 pseudopterygium 10.2 KRT3 KRT12
29 interstitial keratitis 10.2 TGFBI COL8A2
30 castleman disease 10.2
31 corneal dystrophy, posterior polymorphous, 3 10.2 UBIAD1 COL8A2
32 metaphyseal chondrodysplasia, schmid type 10.1
33 focal segmental glomerulosclerosis 10.1
34 corneal dystrophy, band-shaped 10.1
35 suppression amblyopia 10.1
36 amblyopia 10.1
37 myopia 10.1
38 corneal ectasia 10.1 TGFBI KRT3 COL8A2
39 corneal edema 10.1 TGFBI KRT3 COL8A2
40 sarcoma 10.1
41 spindle cell sarcoma 10.1
42 corneal dystrophy, avellino type 10.1 TGFBI KRT3 KRT12 CHST6
43 cardiomyopathy, dilated, 1o 10.1 SERPINI2 SERPINB13
44 schnyder corneal dystrophy 10.0 UBIAD1 TGFBI KRT3 KRT12
45 microcephaly 14, primary, autosomal recessive 10.0 SASS6 CEP152
46 irregular astigmatism 10.0 TGFBI KRT3 KRT12 COL8A2
47 corneal dystrophy, groenouw type i 10.0 UBIAD1 TGFBI KRT12 CHST6
48 nephrotic syndrome 10.0
49 glomerulonephritis 10.0
50 liver disease 10.0

Graphical network of the top 20 diseases related to Corneal Dystrophy, Meesmann, 1:



Diseases related to Corneal Dystrophy, Meesmann, 1

Symptoms & Phenotypes for Corneal Dystrophy, Meesmann, 1

Human phenotypes related to Corneal Dystrophy, Meesmann, 1:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 corneal dystrophy 31 HP:0001131
3 reduced visual acuity 31 HP:0007663
4 epiphora 31 HP:0009926
5 punctate opacification of the cornea 31 HP:0007856

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
photophobia
corneal dystrophy, nonprogressive
fine punctate corneal opacities
foreign body sensation, episodic
tearing
more

Clinical features from OMIM®:

122100 (Updated 20-May-2021)

Drugs & Therapeutics for Corneal Dystrophy, Meesmann, 1

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Meesmann, 1

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

Genetic Tests for Corneal Dystrophy, Meesmann, 1

Genetic tests related to Corneal Dystrophy, Meesmann, 1:

# Genetic test Affiliating Genes
1 Meesmann Corneal Dystrophy 1 29 KRT12
2 Meesmann Corneal Dystrophy 29

Anatomical Context for Corneal Dystrophy, Meesmann, 1

MalaCards organs/tissues related to Corneal Dystrophy, Meesmann, 1:

40
Eye, Liver, Endothelial, Brain, Kidney

Publications for Corneal Dystrophy, Meesmann, 1

Articles related to Corneal Dystrophy, Meesmann, 1:

(show all 31)
# Title Authors PMID Year
1
Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. 6 57
22174841 2011
2
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 57 6
9171831 1997
3
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. 61 57
26788030 2015
4
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. 6
10644419 2000
5
Meesmann corneal epithelial dystrophy in a Saudi Arabian family. 57
9467444 1998
6
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 6
9399908 1997
7
Meesmann's epithelial dystrophy of the cornea. 57
301357 1977
8
Meesman's corneal dystrophy. 57
4181022 1968
9
Hereditary epithelial dystrophy of the cornea: Meesmann type. 57
5297150 1966
10
[On hereditary epithelial dystrophy of the cornea (type Meesmann-Wilke) in Schleswig-Holstein]. 57
5296628 1965
11
MEESMANN'S CORNEAL DYSTROPHY. A PATHOLOGICAL STUDY. 57
14120659 1964
12
Hereditary epithelial corneal dystrophy. 57
13993171 1963
13
A rare form of hereditary epithelial dystrophy of the cornea: a genetic, clinical, and pathologic study. 57
13274420 1954
14
Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report. 61
33346999 2021
15
Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy. 61
32308613 2020
16
[Corneal dystrophies in optical coherence tomography]. 61
30539228 2019
17
[Epithelial Dystrophies of the Cornea]. 61
30776844 2019
18
In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. 61
30535821 2019
19
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. 61
24099278 2014
20
Morphological evaluation of normal human corneal epithelium. 61
21114634 2010
21
Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. 61
22737341 2010
22
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. 61
18806880 2008
23
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. 61
18661274 2008
24
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. 61
18362674 2008
25
Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. 61
17068472 2006
26
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 61
16352477 2005
27
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 61
16227835 2005
28
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. 61
16015084 2005
29
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. 61
11024418 2000
30
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. 61
10612503 1999
31
A new clinical perspective of corneal dystrophies through molecular genetics. 61
10621529 1999

Variations for Corneal Dystrophy, Meesmann, 1

ClinVar genetic disease variations for Corneal Dystrophy, Meesmann, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT12 NM_000223.4(KRT12):c.404G>C (p.Arg135Thr) SNV Pathogenic 7921 rs57218384 GRCh37: 17:39023035-39023035
GRCh38: 17:40866783-40866783
2 KRT12 NM_000223.4(KRT12):c.427G>C (p.Val143Leu) SNV Pathogenic 7922 rs58343600 GRCh37: 17:39023012-39023012
GRCh38: 17:40866760-40866760
3 KRT12 NM_000223.4(KRT12):c.403A>G (p.Arg135Gly) SNV Pathogenic 7923 rs58410481 GRCh37: 17:39023036-39023036
GRCh38: 17:40866784-40866784
4 KRT12 NM_000223.4(KRT12):c.404G>T (p.Arg135Ile) SNV Pathogenic 7924 rs57218384 GRCh37: 17:39023035-39023035
GRCh38: 17:40866783-40866783
5 KRT12 NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp) SNV Pathogenic 7925 rs58162394 GRCh37: 17:39019406-39019406
GRCh38: 17:40863154-40863154
6 KRT12 NM_000223.4(KRT12):c.419T>G (p.Leu140Arg) SNV Pathogenic 7926 rs58918655 GRCh37: 17:39023020-39023020
GRCh38: 17:40866768-40866768
7 KRT12 NM_000223.4(KRT12):c.386T>C (p.Met129Thr) SNV Pathogenic 7927 rs28936695 GRCh37: 17:39023053-39023053
GRCh38: 17:40866801-40866801
8 KRT12 NM_000223.4(KRT12):c.395T>C (p.Leu132Pro) SNV Pathogenic 254686 rs886038212 GRCh37: 17:39023044-39023044
GRCh38: 17:40866792-40866792
9 KRT3 NM_057088.3(KRT3):c.59_60insA (p.Ala21fs) Insertion Pathogenic 1033026 GRCh37: 12:53189767-53189768
GRCh38: 12:52795983-52795984

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Meesmann, 1:

72 (show all 18)
# 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 KRT12 p.Leu132Val VAR_083313

Expression for Corneal Dystrophy, Meesmann, 1

Search GEO for disease gene expression data for Corneal Dystrophy, Meesmann, 1.

Pathways for Corneal Dystrophy, Meesmann, 1

GO Terms for Corneal Dystrophy, Meesmann, 1

Cellular components related to Corneal Dystrophy, Meesmann, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 TGFBI SERPINI2 SECTM1 PI16 PI15 LCAT
2 extracellular exosome GO:0070062 9.76 TGFBI SERPINI2 SERPINB13 SECTM1 PI15 LCAT
3 extracellular space GO:0005615 9.56 TGFBI SERPINI2 SERPINB13 SECTM1 PI16 PI15
4 deuterosome GO:0098536 8.62 SASS6 CEP152

Biological processes related to Corneal Dystrophy, Meesmann, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centriole replication GO:0007099 9.16 SASS6 CEP152
2 centrosome duplication GO:0051298 8.96 SASS6 CEP152
3 negative regulation of peptidase activity GO:0010466 8.92 SERPINI2 SERPINB13 PI16 PI15

Molecular functions related to Corneal Dystrophy, Meesmann, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 8.92 SERPINI2 SERPINB13 PI16 PI15

Sources for Corneal Dystrophy, Meesmann, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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