MECD
MCID: CRN286
MIFTS: 43

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 58 76
Meesmann Corneal Dystrophy 58 12 54 26 60 76 38 13 15
Mecd 58 12 26 60 76
Corneal Dystrophy, Juvenile Epithelial of Meesmann 54 26 45
Juvenile Hereditary Epithelial Dystrophy 12 54 26
Meesman's Corneal Dystrophy 26 30 6
Corneal Dystrophy, Meesmann Epithelial 58 26
Meesmann Corneal Epithelial Dystrophy 54 26
Meesmann Epithelial Corneal Dystrophy 26 76
Juvenile Hereditary Epithelial Dystrophy of Meesmann 60
Corneal Dystrophy, Juvenile Epithelial, of Meesmann 58
Juvenile Epithelial Corneal Dystrophy of Meesmann 76
Dystrophy, Corneal, Meesmann 41
Stocker-Holt Dystrophy 12
Meesman Dystrophy 54
Mcd 76

Characteristics:

Orphanet epidemiological data:

60
meesmann corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
corneal dystrophy, meesmann:
Onset and clinical course nonprogressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060451
OMIM 58 122100
KEGG 38 H00726
ICD9CM 36 371.51
MeSH 45 D053559
NCIt 51 C84795
SNOMED-CT 69 1674008
ICD10 34 H18.52
MESH via Orphanet 46 D053559
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C0339277
Orphanet 60 ORPHA98954
MedGen 43 C0339277
UMLS 74 C0339277

Summaries for Corneal Dystrophy, Meesmann

NIH Rare Diseases : 54 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). The drugs Bupivacaine and Naproxen have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related phenotypes are photophobia and corneal dystrophy

Genetics Home Reference : 26 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 : 58 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 : 76 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 all 50)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, corneal 32.4 CHST6 KRT12 TGFBI
2 corneal dystrophy 29.8 CHST6 KRT12 KRT3 TGFBI
3 multicentric castleman disease 12.1
4 metaphyseal chondrodysplasia, schmid type 12.1
5 malonyl-coa decarboxylase deficiency 12.0
6 multiple carboxylase deficiency 12.0
7 kaposi sarcoma 11.8
8 holocarboxylase synthetase deficiency 11.8
9 biotinidase deficiency 11.7
10 lipoid nephrosis 11.5
11 focal segmental glomerulosclerosis 11.5
12 c1q nephropathy 11.2
13 metaphyseal dysplasia, spahr type 11.0
14 cortical malformations, occipital 11.0
15 microlissencephaly 11.0
16 castleman disease 10.3
17 liver disease 10.2
18 nonalcoholic fatty liver disease 10.2
19 sarcoma 10.2
20 fatty liver disease 10.2
21 focal segmental glomerulosclerosis 1 10.1
22 cortical dysplasia, complex, with other brain malformations 7 10.1
23 glomerulonephritis 10.1
24 nephrotic syndrome 10.1
25 epilepsy 10.1
26 kshv inflammatory cytokine syndrome 10.1
27 nonalcoholic steatohepatitis 10.1
28 limbal stem cell deficiency 10.0 KRT12 KRT3
29 aplasia cutis congenita, nonsyndromic 9.9
30 fish-eye disease 9.9
31 systemic lupus erythematosus 9.9
32 neutrophil migration 9.9
33 myeloma, multiple 9.9
34 poems syndrome 9.9
35 severe acute respiratory syndrome 9.9
36 spindle cell sarcoma 9.9
37 lupus erythematosus 9.9
38 cytokine deficiency 9.9
39 astigmatism 9.9 KRT12 KRT3
40 tyrosinemia, type ii 9.8 CHST6 KRT12
41 corneal degeneration 9.7 KRT12 MBTPS2 TGFBI
42 corneal dystrophy, avellino type 9.7 CHST6 TGFBI
43 stromal dystrophy 9.6 CHST6 TGFBI
44 epithelial-stromal tgfbi dystrophy 9.6 CHST6 KRT12 TGFBI
45 corneal dystrophy, gelatinous drop-like 9.6 CHST6 KRT12 TGFBI
46 corneal granular dystrophy 9.4 CHST6 KRT12 KRT3 TGFBI
47 epithelial and subepithelial dystrophy 9.4 CHST6 KRT12 KRT3 TGFBI
48 corneal dystrophy, thiel-behnke type 9.4 CHST6 KRT12 KRT3 TGFBI
49 corneal endothelial dystrophy 9.4 CHST6 KRT12 KRT3 TGFBI
50 corneal disease 9.4 CHST6 KRT12 KRT3 TGFBI

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



Diseases related to Corneal Dystrophy, Meesmann

Symptoms & Phenotypes for Corneal Dystrophy, Meesmann

Human phenotypes related to Corneal Dystrophy, Meesmann:

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 corneal dystrophy 33 HP:0001131
3 reduced visual acuity 33 HP:0007663
4 punctate opacification of the cornea 33 HP:0007856
5 epiphora 33 HP:0009926

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia
corneal dystrophy, nonprogressive
fine punctate corneal opacities
foreign body sensation, episodic
tearing
more

Clinical features from OMIM:

122100

Drugs & Therapeutics for Corneal Dystrophy, Meesmann

Drugs for Corneal Dystrophy, Meesmann (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4,Phase 3 38396-39-3, 2180-92-9 2474
2
Naproxen Approved, Vet_approved Phase 4 22204-53-1 156391 1302
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
4
Codeine Approved, Illicit Phase 4 76-57-3 5284371
5 Pharmaceutical Solutions Phase 4,Phase 3
6 Central Nervous System Depressants Phase 4,Phase 3
7 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Antirheumatic Agents Phase 4
11 Analgesics, Opioid Phase 4
12 Antitussive Agents Phase 4
13 Respiratory System Agents Phase 4
14 Narcotics Phase 4
15 Analgesics, Non-Narcotic Phase 4,Phase 3
16 Peripheral Nervous System Agents Phase 4,Phase 3
17 Cyclooxygenase Inhibitors Phase 4
18 Analgesics Phase 4,Phase 3
19
Dexmedetomidine Approved, Vet_approved Phase 3 113775-47-6 5311068 68602
20
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
21
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
22 GABA Agents Phase 3
23 Adrenergic alpha-2 Receptor Agonists Phase 3
24 Psychotropic Drugs Phase 3
25 Neurotransmitter Agents Phase 3
26 GABA Modulators Phase 3
27 Adrenergic alpha-Agonists Phase 3
28 Adjuvants, Anesthesia Phase 3
29 Tranquilizing Agents Phase 3
30 Anesthetics, Intravenous Phase 3
31 Adrenergic Agents Phase 3
32 Anesthetics, Local Phase 3
33 Hypnotics and Sedatives Phase 3
34 Anesthetics Phase 3
35 Adrenergic Agonists Phase 3
36 Anesthetics, General Phase 3
37 Anti-Anxiety Agents Phase 3
38
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
39 Gastrointestinal Agents Not Applicable
40 Hormones Not Applicable
41 Anti-Ulcer Agents Not Applicable
42 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
43 Antacids Not Applicable
44 Proton Pump Inhibitors Not Applicable
45 Gastrins Not Applicable
46 Hormone Antagonists Not Applicable
47 Insulin, Globin Zinc
48 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Periarticular Injection Versus Fascia Iliaca Block for Total Knee Arthroplasty Completed NCT02047331 Phase 4
2 Naproxen Codeine in Arthroscopic Surgery Completed NCT01952652 Phase 4 Group N:Naproxen sodium;Group NC :naproxen sodium codeine phosphate
3 Effects of Dexmedetomidine Premedication on Geriatric Patients With Chronic Renal Failure Undergoing Hip Surgery Completed NCT01837290 Phase 3 dexmedetomidine infusion for premedication;Midazolam;saline infusion;Spinal block with hyperbaric bupivacaine 0.5% 12.5 mg
4 The Effect of Esomeprazole on Type 2 Diabetes Completed NCT03598738 Not Applicable Esomeprazole 40mg
5 Bioimpedance Analysis for Follow-up of Dieters Completed NCT02975427

Search 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 30 KRT12 KRT3

Anatomical Context for Corneal Dystrophy, Meesmann

MalaCards organs/tissues related to Corneal Dystrophy, Meesmann:

42
Eye, Liver, Brain, Endothelial, Neutrophil

Publications for Corneal Dystrophy, Meesmann

Articles related to Corneal Dystrophy, Meesmann:

(show all 17)
# Title Authors Year
1
In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. ( 30535821 )
2019
2
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. ( 26788030 )
2015
3
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. ( 24099278 )
2014
4
Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. ( 22174841 )
2011
5
Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. ( 22737341 )
2010
6
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. ( 18661274 )
2008
7
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. ( 18806880 )
2008
8
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. ( 18362674 )
2008
9
Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. ( 17068472 )
2006
10
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. ( 16015084 )
2005
11
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. ( 16227835 )
2005
12
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. ( 16352477 )
2005
13
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. ( 11024418 )
2000
14
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. ( 10644419 )
2000
15
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. ( 10612503 )
1999
16
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. ( 9171831 )
1997
17
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. ( 9399908 )
1997

Variations for Corneal Dystrophy, Meesmann

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

76 (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 GRCh38 Chromosome 17, 40866792: 40866792
22 KRT12 NM_000223.3(KRT12): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs886038212 GRCh37 Chromosome 17, 39023044: 39023044

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

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

Sources for Corneal Dystrophy, Meesmann

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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