MCD
MCID: MCL002
MIFTS: 56

Macular Corneal Dystrophy (MCD) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Macular Corneal Dystrophy

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9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Disease Ontology:9 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 keratoconus. An important gene associated with Macular Corneal Dystrophy is CHST6 (carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6), and among its related pathways are Disease and Metabolism. The drugs interferon alfa-2a and interferon alfa-2b and the compounds galactose and Keratan have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and endothelial.

Wikipedia:66 Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar... more...

Description from OMIM:48 217800

Aliases & Classifications for Macular Corneal Dystrophy

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 41NCIt, 36MeSH, 28ICD9CM, 59SNOMED-CT, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
macular corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

macular corneal dystrophy 9 10 48 11 50 63
macular corneal dystrophy type 1 44 21 23
corneal dystrophy, macular type 44 46
fehr corneal dystrophy 9 50
groenouw type ii corneal dystrophy 44
corneal dystrophy groenouw type ii 50
macular dystrophy, corneal type 1 44
age related macular degeneration 63
macular corneal dystrophy type i 63
macular dystrophy, corneal, 1 9
mcdc1 44
mcd 50


External Ids:

Disease Ontology9 DOID:2565
NCIt41 C34793
MeSH36 D003317
ICD9CM28 371.55
SNOMED-CT59 60258001
OMIM48 217800
ICD10 via Orphanet27 H18.5
SNOMED-CT via Orphanet60 60258001
UMLS via Orphanet64 C0024439

Related Diseases for Macular Corneal Dystrophy

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Macular Corneal Dystrophy:



Diseases related to macular corneal dystrophy

Symptoms for Macular Corneal Dystrophy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

217800

Clinical features from OMIM:

217800

Drugs & Therapeutics for Macular Corneal Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Macular Corneal Dystrophy

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21GeneTests, 23GTR
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Genetic tests related to Macular Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Macular Corneal Dystrophy 121 CHST6
2 Macular Corneal Dystrophy Type I23

Anatomical Context for Macular Corneal Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Macular Corneal Dystrophy:

34
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:
53PubMed
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Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
Concurrent macular corneal dystrophy and keratoconus. (22623870)
2012
2
Molecular genetic analysis of macular corneal dystrophy patients from North India. (22261655)
2012
3
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. (21242781)
2011
4
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. (21887843)
2011
5
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
6
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. (19223992)
2009
7
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. (19421034)
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
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. (18500531)
2008
11
Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. (18815430)
2008
12
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. (17962390)
2008
13
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. (17093400)
2006
14
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. (16568029)
2006
15
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. (16207214)
2005
16
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. (15953452)
2005
17
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus. (16084784)
2005
18
Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. (16138998)
2005
19
Concomitant keratoconus and macular corneal dystrophy. (15220737)
2004
20
Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. (15787187)
2004
21
Novel mutations in the CHST6 gene causing macular corneal dystrophy. (14984470)
2004
22
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
23
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. (12883341)
2003
24
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (14609920)
2003
25
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. (12824236)
2003
26
Immunohistochemical classification of primary and recurrent macular corneal dystrophy in Germany: subclassification of immunophenotype I A using a novel keratan sulfate antibody. (11747360)
2001
27
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. (11139648)
2000
28
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (11017086)
2000
29
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
30
Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype. (9512173)
1998
31
Macular corneal dystrophy type II: multiple studies on a cornea with low levels of sulphated keratan sulphate. (9246278)
1997
32
Serum sulfotransferase levels in patients with macular corneal dystrophy type I. (9366673)
1997
33
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients. (8684802)
1996
34
Macular corneal dystrophy: reduction in both corneal thickness and collagen interfibrillar spacing. (2340750)
1990
35
Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy. (2394754)
1990
36
Macular corneal dystrophy: the macromolecular structure of the stroma observed using electron microscopy and synchrotron X-ray diffraction. (2515072)
1989
37
Macular corneal dystrophy in Iceland. (2606219)
1989
38
Heterogeneity in macular corneal dystrophy. (3056354)
1988
39
Methenamine-silver staining in macular corneal dystrophy. (2461085)
1988
40
Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. (3293458)
1988
41
Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. (2946233)
1986
42
Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. (2951638)
1986
43
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
44
Corneal alpha-galactosidase deficiency in macular corneal dystrophy. (2999674)
1985
45
Biochemical and histological analysis of "recurrent' macular corneal dystrophy. (7046710)
1982
46
Research into the pathogenesis of macular corneal dystrophy. (6973846)
1980
47
Macular corneal dystrophy: failure to synthesize a mature keratan sulfate proteoglycan. (6447876)
1980
48
Recurrence of macular corneal dystrophy after lamellar keratoplasty. (333919)
1977
49
Macular corneal dystrophy: ultrastructural pathology of corneal endothelium and Descemet's membrane. (4265065)
1973
50
MACULAR CORNEAL DYSTROPHY. AN INHERITED ACID MUCOPOLYSACCHARIDE STORAGE DISEASE OF THE CORNEAL FIBROBLAST. (14217673)
1964

Variations for Macular Corneal Dystrophy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Macular Corneal Dystrophy:

65 (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

Clinvar genetic disease variations for Macular Corneal Dystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1CHST6NM_021615.4(CHST6): c.521A> G (p.Lys174Arg)single nucleotide variantPathogenicrs28937877GRCh37Chr 16, 75513206: 75513206
2CHST6NM_021615.4(CHST6): c.609C> A (p.Asp203Glu)single nucleotide variantPathogenicrs28937878GRCh37Chr 16, 75513118: 75513118
3CHST6NM_021615.4(CHST6): c.599T> G (p.Leu200Arg)single nucleotide variantPathogenicrs28937879GRCh37Chr 16, 75513128: 75513128
4CHST6NM_021615.4(CHST6): c.304T> G (p.Cys102Gly)single nucleotide variantPathogenicrs121917822GRCh37Chr 16, 75513423: 75513423
5CHST6NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys)single nucleotide variantPathogenicrs72547544GRCh37Chr 16, 75513398: 75513398
6CHST6NM_021615.4(CHST6): c.827T> C (p.Leu276Pro)single nucleotide variantPathogenicrs121917824GRCh37Chr 16, 75512900: 75512900

Expression for genes affiliated with Macular Corneal Dystrophy

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2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 55R&D Systems
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Pathways related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.6CHST6, CHST5, CHST1
2
Show member pathways
8.6CHST6, CHST5, CHST1
3
Show member pathways
8.6CHST1, CHST5, CHST6
4
Show member pathways
8.6CHST6, CHST5, CHST1
58.6CHST1, CHST5, CHST6
6
Show member pathways
8.6CHST6, CHST5, CHST1

Compounds for genes affiliated with Macular Corneal Dystrophy

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46Novoseek, 25HMDB
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Compounds related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1galactose469.4CHST6, CHST1
2Keratan259.1CHST6, CHST1
3Poly-N-acetyllactosamine259.0CHST6, CHST5
4keratan sulfate468.7CHST6, CHST5, CHST1
5n-acetylglucosamine468.7CHST6, CHST5, CHST1
6sulfate46 259.6CHST1, CHST5, CHST6

GO Terms for genes affiliated with Macular Corneal Dystrophy

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17Gene Ontology
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Cellular components related to Macular Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:0057949.1CHST6, CHST5
2Golgi membraneGO:0001398.3CHST6, CHST5, CHST1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosamine metabolic processGO:0060449.0CHST6, CHST5
2sulfur compound metabolic processGO:0067908.8CHST6, CHST5, CHST1
3keratan sulfate biosynthetic processGO:0181468.7CHST1, CHST5, CHST6
4keratan sulfate metabolic processGO:0423398.7CHST6, CHST5, CHST1
5glycosaminoglycan metabolic processGO:0302038.6CHST1, CHST5, CHST6
6small molecule metabolic processGO:0442818.6CHST6, CHST5, CHST1
7carbohydrate metabolic processGO:0059758.3CHST6, CHST5, CHST1

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

idNameGO IDScoreTop Affiliating Genes
1sulfotransferase activityGO:0081469.1CHST5, CHST1
2N-acetylglucosamine 6-O-sulfotransferase activityGO:0015178.8CHST6, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet