MCD
MCID: MCL002
MIFTS: 49

Macular Corneal Dystrophy (MCD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Corneal Dystrophy

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Macular Corneal Dystrophy:

Name: Macular Corneal Dystrophy 52 11 54 12 13 68
Groenouw Type Ii Corneal Dystrophy 48 24 70
Macular Corneal Dystrophy Type Ii 70 27 68
Mcdc1 48 24 70
Macular Dystrophy, Corneal Type 1 48 68
Macular Corneal Dystrophy Type I 70 27
Corneal Dystrophy, Macular Type 48 50
Macular Dystrophy, Corneal 52 70
Fehr Corneal Dystrophy 11 54
 
Mcd 54 70
Corneal Dystrophy Groenouw Type Ii 54
Macular Corneal Dystrophy, Type 1 24
Macular Corneal Dystrophy Type 1 48
Corneal Dystrophy Macular Type 70
Macular Dystrophy, Corneal, 1 11
Macular Corneal Dystrophy I 24
Macular Corneal Dystrophy 1 24

Characteristics:

Orphanet epidemiological data:

54
macular corneal dystrophy:
Inheritance: Autosomal recessive; Age of onset: All ages

HPO:

64
macular corneal dystrophy:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 217800
Disease Ontology11 DOID:2565
ICD1030 H18.55
ICD9CM32 371.55
MeSH39 D003317
SNOMED-CT62 60258001
NCIt45 C34793
Orphanet54 ORPHA98969
UMLS via Orphanet69 C0024439
ICD10 via Orphanet31 H18.5

Summaries for Macular Corneal Dystrophy

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UniProtKB/Swiss-Prot:70 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 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia and multicentric castleman disease, and has symptoms including recurrent corneal erosions, photophobia and corneal dystrophy. An important gene associated with Macular Corneal Dystrophy is CHST6 (Carbohydrate Sulfotransferase 6), and among its related pathways is Keratan sulfate/keratin metabolism. Affiliated tissues include endothelial, eye and skin, and related mouse phenotype vision/eye.

OMIM:52 Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the... (217800) more...

Disease Ontology:11 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.

Wikipedia:71 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 47)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia12.0
2multicentric castleman disease11.6
3metaphyseal chondrodysplasia, schmid type11.6
4kaposi sarcoma11.5
5holocarboxylase synthetase deficiency11.5
6biotinidase deficiency11.4
7malonyl-coa decarboxylase deficiency11.2
8mousa al din al nassar syndrome11.1
9multiple carboxylase deficiency11.1
10hypotrichosis, congenital, with juvenile macular dystrophy10.9
11focal segmental glomerulosclerosis10.9
12c1q nephropathy10.9
13corneal dystrophy10.8
14lipoid nephrosis10.7
15cortical malformations, occipital10.7
16meesmann corneal dystrophy10.7
17metaphyseal dysplasia, spahr type10.7
18keratoconus10.1
19castleman disease10.0
20corneal dystrophy, thiel-behnke type10.0CHST6, TGFBI
21epithelial basement membrane dystrophy9.9CHST6, TGFBI
22chronic pulmonary heart disease9.9KRT12, TGFBI
23sarcoma9.9
24nephrotic syndrome9.9
25corneal endothelial dystrophy9.8CHST6, KRT12, TGFBI
26chromosome 1p32-p31 deletion syndrome9.8CHST6, KRT12, TGFBI
27epidermolysis bullosa simplex, weber-cockayne type9.8CHST6, KRT12, TGFBI
28complex partial epilepsy9.8KRT12, TGFBI
29muscular dystrophy, limb-girdle, type 1a9.8CHST6, KRT12, TGFBI
30cataract9.8
31spastic ataxia9.8
32myopia9.8
33ataxia9.8
34mucopolysaccharidoses9.8
35spasticity9.8
36endotheliitis9.8
37ciliary dyskinesia, primary, 59.8CHST6, KRT12, TGFBI
38desbuquois dysplasia9.8CHST6, KRT12, TGFBI
39poems syndrome9.7
40epilepsy9.7
41kshv inflammatory cytokine syndrome9.7
42biotin-responsive multiple carboxylase deficiencies9.7
43leigh-like syndrome9.7
44chromosome 3q29 microduplication syndrome9.6CHST6, LUM, TGFBI, UBIAD1
45venous insufficiency9.5CHST6, KRT12, TGFBI, UBIAD1
46malignant histiocytic disease9.5CHST6, KRT12, TGFBI, UBIAD1
47apparent mineralocorticoid excess9.3CHST6, KRT12, LUM, TGFBI, UBIAD1

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



Diseases related to macular corneal dystrophy

Symptoms & Phenotypes for Macular Corneal Dystrophy

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Symptoms by clinical synopsis from OMIM:

217800

Clinical features from OMIM:

217800

Human phenotypes related to Macular Corneal Dystrophy:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions64 HP:0000495
2 photophobia64 HP:0000613
3 corneal dystrophy64 HP:0001131
4 abnormality of metabolism/homeostasis64 HP:0001939
5 macular dystrophy64 HP:0007754
6 punctate opacification of the cornea64 HP:0007856

MGI Mouse Phenotypes related to Macular Corneal Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4CHST6, KRT12, LUM, TGFBI

Drugs & Therapeutics for Macular Corneal Dystrophy

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dexamethasoneapproved, investigational, vet_approvedPhase 2217150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
2HormonesPhase 214415
3HIV Protease InhibitorsPhase 25470
4Hormone AntagonistsPhase 213180
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
6
protease inhibitorsPhase 25471
Synonyms:
 
protease inhibitors
7Pharmaceutical SolutionsPhase 28192
8Peripheral Nervous System AgentsPhase 223689
9AntiemeticsPhase 24022
10glucocorticoidsPhase 25103
11Antineoplastic Agents, HormonalPhase 25592
12Anti-Inflammatory AgentsPhase 210729
13Gastrointestinal AgentsPhase 28402
14Autonomic AgentsPhase 210150
15BB 1101Phase 22171
16Dexamethasone acetatePhase 221711177-87-3
17Dexamethasone 21-phosphatePhase 22171
18
Fomepizoleapproved, vet_approvedPhase 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
19Protective AgentsPhase 17443
20AntidotesPhase 11071

Interventional clinical trials:

idNameStatusNCT IDPhase
1Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot StudyRecruitingNCT02834260Phase 2
2Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular DystrophyCompletedNCT00346853Phase 1
3Spectral-domain Optical Coherence Tomography of the EyeRecruitingNCT02614625
4DISCOVER Study: Microscope-integrated Intraoperative OCT StudyRecruitingNCT02423213
5PIONEER: Intraoperative and Perioperative OCT StudyActive, not recruitingNCT02423161
6Repository 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, Type Ii27
2 Macular Corneal Dystrophy Type I27
3 Macular Corneal Dystrophy 124 CHST6

Anatomical Context for Macular Corneal Dystrophy

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MalaCards organs/tissues related to Macular Corneal Dystrophy:

36
Endothelial, Eye, Skin

Publications for Macular Corneal Dystrophy

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Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. (27439461)
2016
2
Macular Corneal Dystrophy and Posterior Corneal Abnormalities. (27755187)
2016
3
Establishment of an in vitro monolayer model of macular corneal dystrophy. (27748734)
2016
4
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. (26604660)
2015
5
A novel proteotoxic stress associated mechanism for macular corneal dystrophy. (25597745)
2015
6
Deep Anterior Lamellar Keratoplasty in Macular Corneal Dystrophy. (25970437)
2015
7
Clinical outcomes and risk factors for graft failure after deep anterior lamellar keratoplasty and penetrating keratoplasty for macular corneal dystrophy. (25514701)
2015
8
A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. (26585178)
2015
9
Macular corneal dystrophy: inA vivo confocal and structural data. (24491640)
2014
10
Phenotype and genotype analysis in patients with macular corneal dystrophy. (24926691)
2014
11
Macular corneal dystrophy and associated corneal thinning. (25081284)
2014
12
Deep anterior lamellar keratoplasty versus penetrating keratoplasty for macular corneal dystrophy: a randomized trial. (23622562)
2013
13
Comparison of penetrating keratoplasty and deep lamellar keratoplasty for macular corneal dystrophy and risk factors of recurrence. (23017278)
2013
14
A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. (24311932)
2013
15
Concurrent macular corneal dystrophy and keratoconus. (22623870)
2012
16
Molecular genetic analysis of macular corneal dystrophy patients from North India. (22261655)
2012
17
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. (21242781)
2011
18
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. (21887843)
2011
19
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy. (20539220)
2010
20
Structural collagen alterations in macular corneal dystrophy occur mainly in the posterior stroma. (20597644)
2010
21
Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family]. (20388351)
2010
22
Molecular genetic study of Egyptian patients with macular corneal dystrophy. (19734134)
2010
23
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. (19421034)
2009
24
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
25
Bilateral coexistence of keratoconus and macular corneal dystrophy. (20671834)
2009
26
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. (19223992)
2009
27
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (19365571)
2009
28
Outcomes of penetrating keratoplasty for macular corneal dystrophy. (23056668)
2009
29
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. (18500531)
2008
30
Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. (18815430)
2008
31
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. (17962390)
2008
32
An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. (17896316)
2007
33
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. (17093400)
2006
34
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. (16568029)
2006
35
Penetrating keratoplasty for macular corneal dystrophy. (15691554)
2005
36
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. (15953452)
2005
37
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. (15652851)
2005
38
Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. (16138998)
2005
39
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. (16207214)
2005
40
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus. (16084784)
2005
41
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. (15013869)
2004
42
Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. (15787187)
2004
43
Concomitant keratoconus and macular corneal dystrophy. (15220737)
2004
44
Novel mutations in the CHST6 gene causing macular corneal dystrophy. (14984470)
2004
45
Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. (12882769)
2003
46
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. (14735064)
2003
47
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
48
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. (12824236)
2003
49
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (14609920)
2003
50
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. (12883341)
2003

Variations for Macular Corneal Dystrophy

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

70 (show all 57)
id Symbol AA change Variation ID SNP ID
1CHST6p.Leu15ProVAR_021417
2CHST6p.Leu22ArgVAR_021418rs68043642
3CHST6p.Pro31SerVAR_021419rs72547549
4CHST6p.His42TyrVAR_021420
5CHST6p.Arg50CysVAR_021421rs28937877
6CHST6p.Ser51LeuVAR_021422rs370335460
7CHST6p.Gly52AspVAR_021423
8CHST6p.Ser53LeuVAR_021424
9CHST6p.Leu59ProVAR_021425
10CHST6p.Asn61ThrVAR_021426rs72547548
11CHST6p.Val66LeuVAR_021427rs72547547
12CHST6p.Tyr68HisVAR_021428rs775742450
13CHST6p.Met70LeuVAR_021429
14CHST6p.Pro72SerVAR_021430rs377617168
15CHST6p.Val76MetVAR_021431
16CHST6p.Arg93HisVAR_021432
17CHST6p.Arg97ProVAR_021433rs72547546
18CHST6p.Ser98TrpVAR_021434
19CHST6p.Cys102GlyVAR_021435rs121917822
20CHST6p.Cys102TyrVAR_021436
21CHST6p.Met104ValVAR_021437
22CHST6p.Phe107SerVAR_021438rs72547545
23CHST6p.Tyr110CysVAR_021439rs72547544
24CHST6p.Phe121LeuVAR_021440
25CHST6p.Gln122ProVAR_021441rs758105699
26CHST6p.Arg127CysVAR_021442
27CHST6p.Ala128ValVAR_021443rs72547543
28CHST6p.Ser131ProVAR_021444
29CHST6p.Leu152ProVAR_021445rs142954809
30CHST6p.Arg162GlyVAR_021446rs117435647
31CHST6p.Arg166ProVAR_021447rs72547542
32CHST6p.Lys174ArgVAR_021448rs28937878
33CHST6p.Arg177HisVAR_021449
34CHST6p.Val198GluVAR_021450
35CHST6p.Leu200ArgVAR_021451rs28937879
36CHST6p.Arg202SerVAR_021452
37CHST6p.Asp203GluVAR_021453rs28937878
38CHST6p.Pro204GlnVAR_021454rs759870075
39CHST6p.Arg205LeuVAR_021455
40CHST6p.Arg205GlnVAR_021456rs377706989
41CHST6p.Ala206ThrVAR_021457rs374493344
42CHST6p.Ala206ValVAR_021458
43CHST6p.Ser210PheVAR_021459rs745571211
44CHST6p.Arg211GlnVAR_021460rs771397083
45CHST6p.Arg211TrpVAR_021461rs202175444
46CHST6p.Ala217ThrVAR_021462rs752785520
47CHST6p.Asp221GluVAR_021463
48CHST6p.Asp221TyrVAR_021464
49CHST6p.His249ProVAR_021465rs72547540
50CHST6p.Tyr268CysVAR_021466rs72547539
51CHST6p.Glu274LysVAR_021467rs72547538
52CHST6p.Leu276ProVAR_021468rs121917824
53CHST6p.Tyr358AspVAR_021469
54CHST6p.Arg177GlyVAR_075523
55CHST6p.Pro186ArgVAR_075524rs376162109
56CHST6p.Arg205TrpVAR_075525rs750219546
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.892C> T (p.Gln298Ter)SNVPathogenicrs886052321GRCh38Chr 16, 75478937: 75478937
2CHST6NM_ 021615.4(CHST6): c.521A> G (p.Lys174Arg)SNVPathogenic/ Likely pathogenicrs28937877GRCh37Chr 16, 75513206: 75513206
3CHST6NM_ 021615.4(CHST6): c.609C> A (p.Asp203Glu)SNVPathogenicrs28937878GRCh37Chr 16, 75513118: 75513118
4CHST6NM_ 021615.4(CHST6): c.599T> G (p.Leu200Arg)SNVPathogenicrs28937879GRCh37Chr 16, 75513128: 75513128
5CHST6NM_ 021615.4(CHST6): c.304T> G (p.Cys102Gly)SNVPathogenicrs121917822GRCh37Chr 16, 75513423: 75513423
6CHST6NM_ 021615.4(CHST6): c.329A> G (p.Tyr110Cys)SNVPathogenicrs72547544GRCh37Chr 16, 75513398: 75513398
7CHST6NM_ 021615.4(CHST6): c.827T> C (p.Leu276Pro)SNVPathogenicrs121917824GRCh37Chr 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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Pathways related to Macular Corneal Dystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5CHST6, LUM

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 biosynthetic processGO:001814610.1CHST6, LUM
2extracellular matrix organizationGO:003019810.0LUM, TGFBI
3visual perceptionGO:00076018.8KRT12, LUM, TGFBI

Molecular functions related to Macular Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.4LUM, TGFBI

Sources for Macular Corneal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet