MCID: MCL002
MIFTS: 54

Macular Corneal Dystrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Corneal Dystrophy

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 12DISEASES, 51Orphanet, 65UMLS, 45NIH Rare Diseases, 47Novoseek, 22GeneTests, 67UniProtKB/Swiss-Prot, 24GTR, 27ICD10, 29ICD9CM, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Macular Corneal Dystrophy:

Name: Macular Corneal Dystrophy 49 10 11 12 51 65
Groenouw Type Ii Corneal Dystrophy 45 22 67
Macular Corneal Dystrophy Type Ii 67 24 65
Mcdc1 45 22 67
Macular Dystrophy, Corneal Type 1 45 65
Macular Corneal Dystrophy Type I 67 24
Corneal Dystrophy, Macular Type 45 47
Fehr Corneal Dystrophy 10 51
Mcd 51 67
 
Corneal Dystrophy Groenouw Type Ii 51
Macular Corneal Dystrophy, Type 1 22
Macular Corneal Dystrophy Type 1 45
Corneal Dystrophy Macular Type 67
Macular Dystrophy, Corneal, 1 10
Macular Corneal Dystrophy I 22
Macular Corneal Dystrophy 1 22
Macular Dystrophy, Corneal 67
Malonic Aciduria 65

Characteristics:

Orphanet epidemiological data:

51
macular corneal dystrophy:
Inheritance: Autosomal recessive; Age of onset: All ages

HPO:

61
macular corneal dystrophy:
Onset and clinical course: juvenile onset
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 217800
Disease Ontology10 DOID:2565
ICD1027 H18.55
ICD9CM29 371.55
MeSH36 D003317
SNOMED-CT59 60258001
NCIt42 C34793
Orphanet51 98969
ICD10 via Orphanet28 H18.5
UMLS via Orphanet66 C0024439
UMLS65 C0024439, C1636149, C0342793 C1691013, more

Summaries for Macular Corneal Dystrophy

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UniProtKB/Swiss-Prot:67 Macular dystrophy, corneal: An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined.

MalaCards based summary: Macular Corneal Dystrophy, also known as groenouw type ii corneal dystrophy, is related to mousa al din al nassar syndrome and metaphyseal chondrodysplasia, schmid type, and has symptoms including punctate opacification of the cornea, macular dystrophy and abnormality of metabolism/homeostasis. An important gene associated with Macular Corneal Dystrophy is CHST6 (Carbohydrate Sulfotransferase 6), and among its related pathways are Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include endothelial, eye and bone, and related mouse phenotypes are vision/eye and homeostasis/metabolism.

Disease Ontology:10 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.

OMIM:49 Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the... (217800) more...

Wikipedia:68 Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar... more...

Related Diseases for Macular Corneal Dystrophy

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1mousa al din al nassar syndrome11.2
2metaphyseal chondrodysplasia, schmid type11.2
3meesmann corneal dystrophy11.2
4multicentric castleman disease11.2
5corneal dystrophy10.9
6corneal abscess10.6KRT12, TGFBI
7corneal dystrophy, reis-bucklers type10.6GSN, TGFBI
8posterior amorphous corneal dystrophy10.6COL8A2, TGFBI
9liver cirrhosis10.6KRT12, KRT3
10bronchopneumonia10.6KRT12, SAT1
11corneal dystrophy, lattice type iiia10.5CHST6, TGFBI
12omodysplasia10.4DCN, LUM
13severe nonproliferative diabetic retinopathy10.4GSN, TACSTD2, TGFBI
14endothelial dystrophy10.4CHST6, DCN, LUM
15folic acid deficiency anemia10.3GGT2, LCAT
16subepithelial mucinous corneal dystrophy10.3DCN, LUM
17cough variant asthma10.3KRT12, KRT3, STS, TGFBI
18epithelial-stromal tgfbi dystrophy10.2KRT12, KRT3, TACSTD2, TGFBI
19keratoconus10.2
20frontonasal dysplasia 310.2DCN, LUM
21corneal dystrophy, avellino type10.0TACSTD2, TGFBI
22corneal dystrophy, gelatinous drop-like10.0CHST6, GSN, KRT12, TACSTD2, TGFBI
23stromal dystrophy10.0CHST6, GSN, KRT3, TACSTD2, TGFBI
24cataract9.9
25spastic ataxia9.9
26myopia9.9
27ataxia9.9
28mucopolysaccharidoses9.9
29spasticity9.9
30endotheliitis9.9
31epidermolysis bullosa simplex, koebner type9.8CHST6, COL8A2, KRT12, KRT3, SAT1, STS
32extrinsic allergic alveolitis9.7INSM1, PTPRN
33endometrial mucinous adenocarcinoma9.5INSM1, PTPRN
34orbit embryonal rhabdomyosarcoma9.4INSM1, PTPRN
35acute hydrops keratoconus9.3CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
36cervicitis9.2CHST6, COL8A2, DCN, GSN, KRT12, KRT3
37otosclerosis 49.0CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
38corneal dystrophy, epithelial basement membrane8.8CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
39fuchs' endothelial dystrophy8.8CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
40cirrhosis, north american indian childhood type4.5CHST5, CHST6, COL8A2, DCN, GGT2, GSN

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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Symptoms by clinical synopsis from OMIM:

217800

Clinical features from OMIM:

217800

HPO human phenotypes related to Macular Corneal Dystrophy:

(show all 6)
id Description Frequency HPO Source Accession
1 punctate opacification of the cornea HP:0007856
2 macular dystrophy HP:0007754
3 abnormality of metabolism/homeostasis HP:0001939
4 corneal dystrophy HP:0001131
5 photophobia HP:0000613
6 recurrent corneal erosions HP:0000495

UMLS symptoms related to Macular Corneal Dystrophy:


chronic constipation, vomiting, seizures, diarrhea, abdominal pain

Drugs & Therapeutics for Macular Corneal Dystrophy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FomepizoleapprovedPhase 137554-65-63406
Synonyms:
222569_ALDRICH
4-Methyl-1H-pyrazole
4-Methylpyrazol
4-Methylpyrazole
4-methylpyrazole
4-methylpyrazole monohydrochloride
5-23-05-00031 (Beilstein Handbook Reference)
7554-65-6
AC-4833
AC1L1FV5
AC1Q2OK9
AC1Q2OKA
AKOS000265586
Antizol
Antizol (TN)
BRN 0105204
C010238
C07837
C4H6N2
CHEBI:5141
CHEMBL1308
CID3406
CPD0-1652
D00707
DB01213
EINECS 231-445-0
 
Fomepizol
Fomepizol [INN-Spanish]
Fomepizole
Fomepizole (USAN/INN)
Fomepizole [USAN:INN]
Fomepizolum
Fomepizolum [INN-Latin]
I11-0350
LS-128524
Lopac-M-1387
Lopac0_000723
M0774
MLS001335923
MLS002153469
NCGC00015646-01
NCGC00015646-03
NCGC00162231-01
Orphan brand of fomepizole
Paladin brand of fomepizole
S14-0570
SBB004402
SMR000059088
SMR000326764
STK256626
TL8005172
UNII-83LCM6L2BY
ZINC00897288
fomepizole
2Protective AgentsPhase 15651

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular DystrophyCompletedNCT00346853Phase 1
2Spectral-domain Optical Coherence Tomography of the EyeRecruitingNCT02614625
3DISCOVER Study: Microscope-integrated Intraoperative OCT StudyRecruitingNCT02423213
4PIONEER: Intraoperative and Perioperative OCT StudyActive, not recruitingNCT02423161
5Repository for Inherited Eye DiseasesSuspendedNCT00378742

Search NIH Clinical Center for Macular Corneal Dystrophy

Genetic Tests for Macular Corneal Dystrophy

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Genetic tests related to Macular Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Macular Corneal Dystrophy 122 CHST6

Anatomical Context for Macular Corneal Dystrophy

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MalaCards organs/tissues related to Macular Corneal Dystrophy:

33
Endothelial, Eye, Bone, Breast, Thyroid, Prostate, Neutrophil

Animal Models for Macular Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Macular Corneal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3CHST6, COL8A2, DCN, KRT12, LCAT, LUM
2MP:00053766.2DCN, GSN, INSM1, LCAT, LUM, OGN

Publications for Macular Corneal Dystrophy

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Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
A novel proteotoxic stress associated mechanism for macular corneal dystrophy. (25597745)
2015
2
Deep Anterior Lamellar Keratoplasty in Macular Corneal Dystrophy. (25970437)
2015
3
Clinical outcomes and risk factors for graft failure after deep anterior lamellar keratoplasty and penetrating keratoplasty for macular corneal dystrophy. (25514701)
2015
4
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. (26604660)
2015
5
Macular corneal dystrophy and associated corneal thinning. (25081284)
2014
6
Concurrent macular corneal dystrophy and keratoconus. (22623870)
2012
7
Molecular genetic analysis of macular corneal dystrophy patients from North India. (22261655)
2012
8
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. (21242781)
2011
9
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
10
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. (19223992)
2009
11
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. (19421034)
2009
12
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (19365571)
2009
13
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. (18500531)
2008
14
Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. (18815430)
2008
15
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. (17962390)
2008
16
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. (17093400)
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
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus. (16084784)
2005
21
Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. (16138998)
2005
22
Concomitant keratoconus and macular corneal dystrophy. (15220737)
2004
23
Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. (15787187)
2004
24
Novel mutations in the CHST6 gene causing macular corneal dystrophy. (14984470)
2004
25
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
26
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. (12883341)
2003
27
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (14609920)
2003
28
Immunohistochemical classification of primary and recurrent macular corneal dystrophy in Germany: subclassification of immunophenotype I A using a novel keratan sulfate antibody. (11747360)
2001
29
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. (11139648)
2000
30
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (11017086)
2000
31
Phototherapeutic keratectomy for macular corneal dystrophy. (10445722)
1999
32
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
33
Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype. (9512173)
1998
34
Macular corneal dystrophy type II: multiple studies on a cornea with low levels of sulphated keratan sulphate. (9246278)
1997
35
Serum sulfotransferase levels in patients with macular corneal dystrophy type I. (9366673)
1997
36
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients. (8684802)
1996
37
Macular corneal dystrophy: reduction in both corneal thickness and collagen interfibrillar spacing. (2340750)
1990
38
Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy. (2394754)
1990
39
Macular corneal dystrophy: the macromolecular structure of the stroma observed using electron microscopy and synchrotron X-ray diffraction. (2515072)
1989
40
Heterogeneity in macular corneal dystrophy. (3056354)
1988
41
Methenamine-silver staining in macular corneal dystrophy. (2461085)
1988
42
Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. (2946233)
1986
43
Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. (2951638)
1986
44
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
45
Corneal alpha-galactosidase deficiency in macular corneal dystrophy. (2999674)
1985
46
Biochemical and histological analysis of "recurrent' macular corneal dystrophy. (7046710)
1982
47
Research into the pathogenesis of macular corneal dystrophy. (6973846)
1980
48
Macular corneal dystrophy: failure to synthesize a mature keratan sulfate proteoglycan. (6447876)
1980
49
Recurrence of macular corneal dystrophy after lamellar keratoplasty. (333919)
1977
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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UniProtKB/Swiss-Prot genetic disease variations for Macular Corneal Dystrophy:

67 (show all 57)
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_021466rs72547539
51CHST6p.Glu274LysVAR_021467
52CHST6p.Leu276ProVAR_021468
53CHST6p.Tyr358AspVAR_021469
54CHST6p.Arg177GlyVAR_075523
55CHST6p.Pro186ArgVAR_075524
56CHST6p.Arg205TrpVAR_075525
57CHST6p.Tyr358HisVAR_075527

Clinvar genetic disease variations for Macular Corneal Dystrophy:

5
id Gene Variation 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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Search GEO for disease gene expression data for Macular Corneal Dystrophy.

Pathways for genes affiliated with Macular Corneal Dystrophy

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GO Terms for genes affiliated with Macular Corneal Dystrophy

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Biological processes related to Macular Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratan sulfate metabolic processGO:004233910.1CHST5, CHST6, LUM
2glycosaminoglycan metabolic processGO:00302039.8CHST5, CHST6, DCN
3angiogenesisGO:00015259.7COL8A2, SAT1, TGFBI
4keratan sulfate biosynthetic processGO:00181469.6CHST5, CHST6, LUM, OGN
5extracellular matrix disassemblyGO:00226179.3COL8A2, DCN, GSN

Sources for Macular Corneal Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet