MCD
MCID: MCL002
MIFTS: 48

Macular Corneal Dystrophy (MCD) malady

Eye category

Summaries for Macular Corneal Dystrophy

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.

MalaCards: Macular Corneal Dystrophy, also known as macular corneal dystrophy type 1, is related to macular dystrophy and age related macular degeneration. An important gene associated with Macular Corneal Dystrophy is CHST6 (carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6), and among its related pathways are Biological oxidations and Articular Cartilage Extracellular Matrix. The drugs interferon alfa-2a and interferon alfa-2b and the compounds glycosaminoglycan and galactose have been mentioned in the context of this disorder. Affiliated tissues include skin and endothelial.

Wikipedia:64 Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar... more...

Description from OMIM:47 217800

Aliases & Classifications for Macular Corneal Dystrophy

Sources:
61UMLS, 8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 49Orphanet, 43NIH Rare Diseases, 45Novoseek, 20GeneTests, 22GTR, 57SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
macular corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

macular corneal dystrophy 8 9 47 10 49 61
macular corneal dystrophy type 1 43 20 22
corneal dystrophy, macular type 43 45
fehr corneal dystrophy 8 49
groenouw type ii corneal dystrophy 43
corneal dystrophy groenouw type ii 49
macular dystrophy, corneal type 1 43
age related macular degeneration 61
macular corneal dystrophy type i 61
macular dystrophy, corneal, 1 8
mcdc1 43
mcd 49


External Ids:

Disease Ontology8 DOID:2565
MeSH35 D003317
OMIM47 217800
ICD9CM27 371.55
SNOMED-CT57 60258001
NCIt40 C34793
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet58 60258001
UMLS via Orphanet62 C0024439

Related Diseases for Macular Corneal Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Macular Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1macular dystrophy11.2
2age related macular degeneration11.0
3stargardt disease10.8
4stargardt macular degeneration10.8
5char syndrome10.7
6charles bonnet syndrome10.7
7scotoma10.7
8age-related macular degeneration 110.7
9diabetic macular edema10.6
10central serous chorioretinopathy10.6
11n syndrome10.6
12atherosclerosis10.6
13retinal drusen10.5
14vitelliform macular dystrophy10.5
15age-related macular degeneration 210.5
16age-related macular degeneration 810.5
17blindness10.5
18retinitis pigmentosa10.5
19kuhnt-junius degeneration10.5
20vascular disease10.5
21late-onset retinal degeneration10.5
22age-related macular degeneration 310.5
23age-related macular degeneration 410.5
24age-related macular degeneration 510.5
25age-related macular degeneration 610.5
26age-related macular degeneration 710.5
27age-related macular degeneration 910.5
28cutis laxa10.4
29alzheimer's disease10.4
30vitreous detachment10.4
31uveitis10.4
32adult-onset vitelliform macular dystrophy10.4
33mousa al din al nassar syndrome10.3
34castleman's disease10.3
35coronary artery disease,10.2
36parkinson's disease10.2
37membranoproliferative glomerulonephritis10.2
38choroiditis10.2
39cystoid macular edema10.2
40systemic lupus erythematosus10.2
41pinguecula10.2
42primary open angle glaucoma10.2
43protein s deficiency10.2
44degenerative myopia10.2
45protein c deficiency10.2
46cone dystrophy10.2
47hemolytic-uremic syndrome10.2
48amyloidosis10.2
49arthritis10.2
50atypical hemolytic-uremic syndrome10.2

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



Diseases related to macular corneal dystrophy

Clinical Features for Macular Corneal Dystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

217800

Clinical synopsis from OMIM:

217800

Drugs & Therapeutics for Macular Corneal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Macular Corneal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Macular Corneal Dystrophy

Search NIH Clinical Center for Macular Corneal Dystrophy

Search CenterWatch for Macular Corneal Dystrophy

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Macular Corneal Dystrophy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Macular Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Macular Corneal Dystrophy 120 CHST6
2 Macular Corneal Dystrophy Type I22

Anatomical Context for Macular Corneal Dystrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Macular Corneal Dystrophy:

33
Skin, Endothelial

Animal Models for Macular Corneal Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Macular Corneal Dystrophy

Sources:
51PubMed
See all sources

Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Deep anterior lamellar keratoplasty versus penetrating keratoplasty for macular corneal dystrophy: a randomized trial. (23622562)
2013
2
Concurrent macular corneal dystrophy and keratoconus. (22623870)
2012
3
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. (21242781)
2011
4
Macular dystrophy in a young male with corneal dystrophy among sisters. (21897629)
2011
5
Molecular genetic study of Egyptian patients with macular corneal dystrophy. (19734134)
2010
6
Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family]. (20388351)
2010
7
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
8
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (19365571)
2009
9
Outcomes of penetrating keratoplasty for macular corneal dystrophy. (23056668)
2009
10
Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. (18815430)
2008
11
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. (17962390)
2008
12
An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. (17896316)
2007
13
Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]. (16804774)
2006
14
Keratoconus associated with corneal macular dystrophy: in vivo confocal microscopic evaluation. (17061228)
2006
15
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. (15953452)
2005
16
Penetrating keratoplasty for macular corneal dystrophy. (15691554)
2005
17
Concomitant keratoconus and macular corneal dystrophy. (15220737)
2004
18
Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. (15787187)
2004
19
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
20
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. (12883341)
2003
21
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. (12824236)
2003
22
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. (11818380)
2002
23
Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy. (11514545)
2001
24
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. (11139648)
2000
25
Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I. (10704529)
2000
26
Phototherapeutic keratectomy for macular corneal dystrophy. (10445722)
1999
27
Measurement of activities of human serum sulfotransferases which transfer sulfate to the galactose residues of keratan sulfate and to the nonreducing end N-acetylglucosamine residues of N-acetyllactosamine trisaccharide: comparison between normal controls and patients with macular corneal dystrophy. (9990120)
1999
28
Recurrent macular corneal dystrophy type II 49 years after penetrating keratoplasty. (10206585)
1999
29
Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype. (9512173)
1998
30
Macular corneal dystrophy type II: multiple studies on a cornea with low levels of sulphated keratan sulphate. (9246278)
1997
31
Linkage of a gene for macular corneal dystrophy to chromosome 16. (8644739)
1996
32
Phototherapeutic keratectomy in macular corneal dystrophy with recurrent erosions. (8653514)
1996
33
Macular corneal dystrophy: reduction in both corneal thickness and collagen interfibrillar spacing. (2340750)
1990
34
Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy. (2394754)
1990
35
Heterogeneity in macular corneal dystrophy. (3056354)
1988
36
Methenamine-silver staining in macular corneal dystrophy. (2461085)
1988
37
Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. (3293458)
1988
38
Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome. (3465874)
1986
39
Alterations in stromal glycoconjugates in macular corneal dystrophy. (3488295)
1986
40
Defective processing of keratan sulfate in macular corneal dystrophy. (6238957)
1984
41
Recurrence of macular corneal dystrophy within grafts. (6336901)
1983
42
Current concept of macular corneal dystrophy. (6293605)
1982
43
Transmission and scanning electron microscopic studies on endothelial cells in macular corneal dystrophy. (6752503)
1982
44
Research into the pathogenesis of macular corneal dystrophy. (6973846)
1980
45
Macular corneal dystrophy: failure to synthesize a mature keratan sulfate proteoglycan. (6447876)
1980
46
Abnormal product of corneal explants from patients with macular corneal dystrophy. (6969547)
1980
47
Recurrence of macular corneal dystrophy after lamellar keratoplasty. (333919)
1977
48
Macular corneal dystrophy: ultrastructural pathology of corneal endothelium and Descemet's membrane. (4265065)
1973
49
Scheie syndrome and macular corneal dystrophy. An ultrastructural comparison of conjunctiva and skin. (4253322)
1971
50
Histochemistry of corneal macular dystrophy. (4186541)
1969

Genetic Variations for Macular Corneal Dystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Macular Corneal Dystrophy:

63 (show all 53)
id Symbol AA change Variation SNP ID
1CHST6p.Leu15ProVAR_021417
2CHST6p.Leu22ArgVAR_021418
3CHST6p.Pro31SerVAR_021419
4CHST6p.His42TyrVAR_021420
5CHST6p.Arg50CysVAR_021421rs28937877
6CHST6p.Ser51LeuVAR_021422
7CHST6p.Gly52AspVAR_021423
8CHST6p.Ser53LeuVAR_021424
9CHST6p.Leu59ProVAR_021425
10CHST6p.Asn61ThrVAR_021426
11CHST6p.Val66LeuVAR_021427
12CHST6p.Tyr68HisVAR_021428
13CHST6p.Met70LeuVAR_021429
14CHST6p.Pro72SerVAR_021430
15CHST6p.Val76MetVAR_021431
16CHST6p.Arg93HisVAR_021432
17CHST6p.Arg97ProVAR_021433
18CHST6p.Ser98TrpVAR_021434
19CHST6p.Cys102GlyVAR_021435
20CHST6p.Cys102TyrVAR_021436
21CHST6p.Met104ValVAR_021437
22CHST6p.Phe107SerVAR_021438
23CHST6p.Tyr110CysVAR_021439
24CHST6p.Phe121LeuVAR_021440
25CHST6p.Gln122ProVAR_021441
26CHST6p.Arg127CysVAR_021442
27CHST6p.Ala128ValVAR_021443
28CHST6p.Ser131ProVAR_021444
29CHST6p.Leu152ProVAR_021445
30CHST6p.Arg162GlyVAR_021446rs117435647
31CHST6p.Arg166ProVAR_021447
32CHST6p.Lys174ArgVAR_021448rs28937878
33CHST6p.Arg177HisVAR_021449
34CHST6p.Val198GluVAR_021450
35CHST6p.Leu200ArgVAR_021451rs28937879
36CHST6p.Arg202SerVAR_021452
37CHST6p.Asp203GluVAR_021453rs28937878
38CHST6p.Pro204GlnVAR_021454
39CHST6p.Arg205LeuVAR_021455
40CHST6p.Arg205GlnVAR_021456
41CHST6p.Ala206ThrVAR_021457
42CHST6p.Ala206ValVAR_021458
43CHST6p.Ser210PheVAR_021459
44CHST6p.Arg211GlnVAR_021460
45CHST6p.Arg211TrpVAR_021461rs202175444
46CHST6p.Ala217ThrVAR_021462
47CHST6p.Asp221GluVAR_021463
48CHST6p.Asp221TyrVAR_021464
49CHST6p.His249ProVAR_021465
50CHST6p.Tyr268CysVAR_021466
51CHST6p.Glu274LysVAR_021467
52CHST6p.Leu276ProVAR_021468
53CHST6p.Tyr358AspVAR_021469

Expression for genes affiliated with Macular Corneal Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Macular Corneal Dystrophy

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

Pathways for genes affiliated with Macular Corneal Dystrophy

Sources:
54Reactome, 38NCBI BioSystems Database, 53R&D Systems, 30KEGG
See all sources

Compounds for genes affiliated with Macular Corneal Dystrophy

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan459.4TGFB1, CHST1
2galactose459.2CHST1, CHST6
3keratan sulfate459.0CHST1, CHST6, CHST5
4n-acetylglucosamine458.9CHST1, CHST6, CHST5
5sulfate45 249.8CHST5, CHST6, CHST1

GO Terms for genes affiliated with Macular Corneal Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.5TGFB1, LUM
2Golgi lumenGO:0057969.2TGFB1, LUM
3Golgi membraneGO:0001398.8CHST1, CHST6, CHST5

Biological processes related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosamine metabolic processGO:0060449.1CHST6, CHST5
2sulfur compound metabolic processGO:0067909.0CHST5, CHST6, CHST1
3keratan sulfate biosynthetic processGO:0181468.6LUM, CHST5, CHST6, CHST1
4keratan sulfate metabolic processGO:0423398.6LUM, CHST5, CHST6, CHST1
5glycosaminoglycan metabolic processGO:0302038.5LUM, CHST5, CHST1, CHST6
6small molecule metabolic processGO:0442818.5CHST1, CHST6, CHST5, LUM
7carbohydrate metabolic processGO:0059758.4CHST1, CHST6, CHST5, LUM

Molecular functions related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfotransferase activityGO:0081469.3CHST1, CHST5
2N-acetylglucosamine 6-O-sulfotransferase activityGO:0015179.1CHST6, CHST5

Products for genes affiliated with Macular Corneal Dystrophy

  • Antibodies
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  • Lysates
  • Antibodies

Sources for Macular Corneal Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet