MCD
MCID: MCL002
MIFTS: 59

Macular Corneal Dystrophy (MCD) malady

Eye diseases category

Summaries for Macular Corneal Dystrophy

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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 corneal 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 eye, skin and endothelial.

Wikipedia:63 Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar... more...

Description from OMIM:46 217800

Aliases & Classifications for Macular Corneal Dystrophy

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Sources:
60UMLS, 8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 42NIH Rare Diseases, 44Novoseek, 20GeneTests, 22GTR, 56SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
macular corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

macular corneal dystrophy 8 9 46 10 48 60
macular corneal dystrophy type 1 42 20 22
corneal dystrophy, macular type 42 44
fehr corneal dystrophy 8 48
groenouw type ii corneal dystrophy 42
corneal dystrophy groenouw type ii 48
macular dystrophy, corneal type 1 42
age related macular degeneration 60
macular corneal dystrophy type i 60
macular dystrophy, corneal, 1 8
mcdc1 42
mcd 48


External Ids:

Disease Ontology8 DOID:2565
MeSH34 D003317
OMIM46 217800
ICD9CM27 371.55
SNOMED-CT56 60258001
NCIt39 C34793
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet57 60258001
UMLS via Orphanet61 C0024439

Related Diseases for Macular Corneal Dystrophy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Macular Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.7CHST6
2age related macular degeneration11.7
3choroiditis11.2
4retinal degeneration11.2
5retinitis11.2
6eye disease10.9
7stargardt disease10.8
8scotoma10.7
9diabetic retinopathy10.7
10age-related macular degeneration 110.6
11diabetic macular edema10.6
12glaucoma10.6
13retinal detachment10.6
14atherosclerosis10.6
15vitelliform macular dystrophy10.5
16refractive error10.5
17retinal disease10.5
18age-related macular degeneration 210.5
19age-related macular degeneration 810.5
20keratoconus10.5
21retinal drusen10.4
22retinitis pigmentosa10.4
23kuhnt-junius degeneration10.4
24pneumonia10.4
25vascular disease10.4
26age-related macular degeneration 310.4
27age-related macular degeneration 410.4
28age-related macular degeneration 510.4
29age-related macular degeneration 610.4
30age-related macular degeneration 710.4
31age-related macular degeneration 910.4
32cutis laxa10.4
33alzheimer's disease10.4
34vitreous detachment10.4
35complement deficiency10.4
36hepatitis10.4
37uveitis10.4
38best vitelliform macular dystrophy10.4
39mousa al din al nassar syndrome10.3
40coronary artery disease10.2
41parametritis10.2
42membranoproliferative glomerulonephritis10.2
43cystoid macular edema10.2
44systemic lupus erythematosus10.2
45pinguecula10.2
46primary open angle glaucoma10.2
47neuronitis10.2
48macular holes10.2
49degenerative myopia10.2
50cone dystrophy10.2

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



Diseases related to macular corneal dystrophy

Clinical Features for Macular Corneal Dystrophy

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Sources:
46OMIM
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Clinical features from OMIM:

217800

Clinical synopsis from OMIM:

217800

Drugs & Therapeutics for Macular Corneal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

Genetic Tests for Macular Corneal Dystrophy

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Sources:
20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Macular Corneal Dystrophy:

32
Eye, Skin, Endothelial

Animal Models for Macular Corneal Dystrophy or affiliated genes

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Publications for Macular Corneal Dystrophy

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Sources:
50PubMed
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Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. (24311932)
2013
2
Comparison of penetrating keratoplasty and deep lamellar keratoplasty for macular corneal dystrophy and risk factors of recurrence. (23017278)
2013
3
Molecular genetic analysis of macular corneal dystrophy patients from North India. (22261655)
2012
4
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. (21887843)
2011
5
Macular dystrophy in a young male with corneal dystrophy among sisters. (21897629)
2011
6
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy. (20539220)
2010
7
Structural collagen alterations in macular corneal dystrophy occur mainly in the posterior stroma. (20597644)
2010
8
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
9
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. (19421034)
2009
10
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (19365571)
2009
11
Bilateral coexistence of keratoconus and macular corneal dystrophy. (20671834)
2009
12
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. (18500531)
2008
13
Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. (18815430)
2008
14
Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]. (16804774)
2006
15
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. (17093400)
2006
16
Keratoconus associated with corneal macular dystrophy: in vivo confocal microscopic evaluation. (17061228)
2006
17
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. (16568029)
2006
18
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. (16207214)
2005
19
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. (15953452)
2005
20
Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. (16138998)
2005
21
Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. (15787187)
2004
22
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. (15013869)
2004
23
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
24
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. (12883341)
2003
25
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (14609920)
2003
26
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. (12824236)
2003
27
Immunohistochemical classification of primary and recurrent macular corneal dystrophy in Germany: subclassification of immunophenotype I A using a novel keratan sulfate antibody. (11747360)
2001
28
Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy. (11514545)
2001
29
Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I. (10704529)
2000
30
Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genes. (10869098)
2000
31
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
32
Linkage of a gene for macular corneal dystrophy to chromosome 16. (8644739)
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
Macular corneal dystrophy in Iceland. (2606219)
1989
36
Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. (3293458)
1988
37
Macular corneal dystrophy: immunochemical characterization using monoclonal antibodies. (3308759)
1987
38
Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. (2946233)
1986
39
Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. (2951638)
1986
40
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
41
Corneal thinning in macular corneal dystrophy. (3484610)
1986
42
Corneal alpha-galactosidase deficiency in macular corneal dystrophy. (2999674)
1985
43
Abnormalities of proteoglycans and glycoproteins synthesized by corneal organ cultures derived from patients with macular corneal dystrophy. (6601743)
1983
44
Macular corneal dystrophy-a localized disorder of mucopolysaccharides metabolism? (6810373)
1982
45
Current concept of macular corneal dystrophy. (6293605)
1982
46
Bilateral recurrence of macular corneal dystrophy (Fehr or Groenouw type II) after penetrating keratoplasty. (387145)
1978
47
Macular corneal dystrophy: ultrastructural pathology of corneal endothelium and Descemet's membrane. (4265065)
1973
48
Macular corneal dystrophy. (4127427)
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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Macular Corneal Dystrophy:

62 (show all 53)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 37NCBI BioSystems Database, 52R&D Systems, 29KEGG
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Compounds for genes affiliated with Macular Corneal Dystrophy

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44Novoseek, 24HMDB
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Compounds related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan449.4TGFB1, CHST1
2galactose449.2CHST1, CHST6
3keratan sulfate449.0CHST1, CHST6, CHST5
4n-acetylglucosamine448.9CHST1, CHST6, CHST5
5sulfate44 249.8CHST5, CHST6, CHST1

GO Terms for genes affiliated with Macular Corneal Dystrophy

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16Gene Ontology
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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:0060449.1CHST5, CHST6
2sulfur compound metabolic processGO:0067909.0CHST1, CHST6, CHST5
3keratan sulfate biosynthetic processGO:0181468.6CHST1, CHST6, CHST5, LUM
4keratan sulfate metabolic processGO:0423398.6LUM, CHST5, CHST6, CHST1
5glycosaminoglycan metabolic processGO:0302038.5LUM, CHST5, CHST6, CHST1
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Macular Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet