MCID: MCL002
MIFTS: 47

Macular Corneal Dystrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Corneal Dystrophy

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Sources:
50OMIM, 11Disease Ontology, 13DISEASES, 52Orphanet, 12diseasecard, 66UMLS, 68UniProtKB/Swiss-Prot, 46NIH Rare Diseases, 23GeneTests, 48Novoseek, 25GTR, 28ICD10, 30ICD9CM, 37MeSH, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Macular Corneal Dystrophy:

Name: Macular Corneal Dystrophy 50 11 13 52 12 66
Groenouw Type Ii Corneal Dystrophy 46 23 68
Mcdc1 46 23 68
Macular Corneal Dystrophy Type Ii 68 25
Macular Dystrophy, Corneal Type 1 46 66
Macular Corneal Dystrophy Type I 68 25
Corneal Dystrophy, Macular Type 46 48
Macular Dystrophy, Corneal 50 68
Fehr Corneal Dystrophy 11 52
 
Mcd 52 68
Corneal Dystrophy Groenouw Type Ii 52
Macular Corneal Dystrophy, Type 1 23
Macular Corneal Dystrophy Type 1 46
Corneal Dystrophy Macular Type 68
Macular Dystrophy, Corneal, 1 11
Macular Corneal Dystrophy I 23
Macular Corneal Dystrophy 1 23

Characteristics:

Orphanet epidemiological data:

52
macular corneal dystrophy:
Inheritance: Autosomal recessive; Age of onset: All ages

HPO:

62
macular corneal dystrophy:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 217800
Disease Ontology11 DOID:2565
ICD1028 H18.55
ICD9CM30 371.55
MeSH37 D003317
SNOMED-CT60 60258001
NCIt43 C34793
Orphanet52 ORPHA98969
ICD10 via Orphanet29 H18.5
UMLS via Orphanet67 C0024439

Summaries for Macular Corneal Dystrophy

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UniProtKB/Swiss-Prot:68 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 mousa al din al nassar syndrome, 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.

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.

OMIM:50 Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the... (217800) more...

Wikipedia:69 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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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 recurrent corneal erosions HP:0000495
2 photophobia HP:0000613
3 corneal dystrophy HP:0001131
4 abnormality of metabolism/homeostasis HP:0001939
5 macular dystrophy HP:0007754
6 punctate opacification of the cornea HP:0007856

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
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
2
DexamethasonePhase 2200150-02-25743
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
3glucocorticoidsPhase 24756
4Dexamethasone acetatePhase 220011177-87-3
5
FomepizolePhase 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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot StudyNot yet recruitingNCT02834260Phase 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 Ii25
2 Macular Corneal Dystrophy Type I25
3 Macular Corneal Dystrophy 123 CHST6

Anatomical Context for Macular Corneal Dystrophy

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MalaCards organs/tissues related to Macular Corneal Dystrophy:

34
Endothelial, Eye, Skin

Animal Models for Macular Corneal Dystrophy or affiliated genes

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Publications for Macular Corneal Dystrophy

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Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Clinical outcomes and risk factors for graft failure after deep anterior lamellar keratoplasty and penetrating keratoplasty for macular corneal dystrophy. (25514701)
2015
2
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. (26604660)
2015
3
Macular corneal dystrophy and associated corneal thinning. (25081284)
2014
4
Macular corneal dystrophy: inA vivo confocal and structural data. (24491640)
2014
5
A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. (24311932)
2013
6
Comparison of penetrating keratoplasty and deep lamellar keratoplasty for macular corneal dystrophy and risk factors of recurrence. (23017278)
2013
7
Molecular genetic analysis of macular corneal dystrophy patients from North India. (22261655)
2012
8
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. (21887843)
2011
9
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy. (20539220)
2010
10
Molecular genetic study of Egyptian patients with macular corneal dystrophy. (19734134)
2010
11
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. (19223992)
2009
12
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. (19421034)
2009
13
Outcomes of penetrating keratoplasty for macular corneal dystrophy. (23056668)
2009
14
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. (17962390)
2008
15
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. (17093400)
2006
16
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. (16207214)
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 carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. (15013869)
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
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. (12824236)
2003
25
Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. (12882769)
2003
26
Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy. (11514545)
2001
27
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. (11139648)
2000
28
Phototherapeutic keratectomy for macular corneal dystrophy. (10445722)
1999
29
Recurrent macular corneal dystrophy type II 49 years after penetrating keratoplasty. (10206585)
1999
30
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
31
Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype. (9512173)
1998
32
Serum sulfotransferase levels in patients with macular corneal dystrophy type I. (9366673)
1997
33
Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy. (2394754)
1990
34
Macular corneal dystrophy: the macromolecular structure of the stroma observed using electron microscopy and synchrotron X-ray diffraction. (2515072)
1989
35
Macular corneal dystrophy in Iceland. (2606219)
1989
36
Methenamine-silver staining in macular corneal dystrophy. (2461085)
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
Alterations in stromal glycoconjugates in macular corneal dystrophy. (3488295)
1986
42
Corneal thinning in macular corneal dystrophy. (3484610)
1986
43
Defective processing of keratan sulfate in macular corneal dystrophy. (6238957)
1984
44
Macular corneal dystrophy-a localized disorder of mucopolysaccharides metabolism? (6810373)
1982
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
Macular corneal dystrophy. (4127427)
1973
50
Scheie syndrome and macular corneal dystrophy. An ultrastructural comparison of conjunctiva and skin. (4253322)
1971

Variations for Macular Corneal Dystrophy

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

68 (show all 57)
id Symbol AA change Variation ID SNP ID
1CHST6p.Leu15ProVAR_021417
2CHST6p.Leu22ArgVAR_021418
3CHST6p.Pro31SerVAR_021419rs72547549
4CHST6p.His42TyrVAR_021420
5CHST6p.Arg50CysVAR_021421rs28937877
6CHST6p.Ser51LeuVAR_021422
7CHST6p.Gly52AspVAR_021423
8CHST6p.Ser53LeuVAR_021424
9CHST6p.Leu59ProVAR_021425
10CHST6p.Asn61ThrVAR_021426
11CHST6p.Val66LeuVAR_021427rs72547547
12CHST6p.Tyr68HisVAR_021428rs775742450
13CHST6p.Met70LeuVAR_021429
14CHST6p.Pro72SerVAR_021430rs377617168
15CHST6p.Val76MetVAR_021431
16CHST6p.Arg93HisVAR_021432
17CHST6p.Arg97ProVAR_021433
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_021443
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_021465
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.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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Pathways related to Macular Corneal Dystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2CHST6, 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:00181469.7CHST6, LUM
2extracellular matrix organizationGO:00301988.8LUM, TGFBI
3visual perceptionGO:00076018.5KRT12, LUM, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.1LUM, TGFBI

Sources for Macular Corneal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet