MCID: MCL002
MIFTS: 49

Macular Corneal Dystrophy malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Macular Corneal Dystrophy

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 29ICD9CM, 42NCIt, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all 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 1 45 22 24
Mcdc1 45 22 67
Macular Dystrophy, Corneal Type 1 45 65
Corneal Dystrophy, Macular Type 45 47
Fehr Corneal Dystrophy 10 51
Mcd 51 67
 
Corneal Dystrophy Groenouw Type Ii 51
Macular Corneal Dystrophy Type Ii 67
Macular Corneal Dystrophy Type I 67
Corneal Dystrophies, Hereditary 36
Corneal Dystrophy Macular Type 67
Macular Dystrophy, Corneal, 1 10
Macular Dystrophy, Corneal 67


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 217800
Disease Ontology10 DOID:2565
MeSH36 D003317
ICD9CM29 371.55
NCIt42 C34793
SNOMED-CT59 60258001
Orphanet51 98969
ICD10 via Orphanet28 H18.5
UMLS via Orphanet66 C0024439

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 corneal dystrophy and keratoconus, and has symptoms including autosomal recessive inheritance, recurrent corneal erosions and photophobia. An important gene associated with Macular Corneal Dystrophy is CHST6 (Carbohydrate (N-Acetylglucosamine 6-O) 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.

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

About this section

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.0CHST6, COL8A2, KRT12, KRT3
2keratoconus10.4
3multicentric castleman disease10.4
4mousa al din al nassar syndrome10.3
5holocarboxylase synthetase deficiency10.3
6corneal dystrophy, posterior polymorphous, 110.3
7malonyl-coa decarboxylase deficiency10.3
8focal segmental glomerulosclerosis10.3
9nephrotic syndrome10.3
10castleman disease10.3
11biotinidase deficiency10.2
12kaposi sarcoma10.2
13lipoid nephrosis10.2
14cataract10.2
15myopia10.2
16ataxia10.2
17mucopolysaccharidoses10.2
18spasticity10.2
19endotheliitis10.2
20metaphyseal chondrodysplasia, schmid type10.1
21glomerulosclerosis, focal segmental, 410.1
22glomerulosclerosis, focal segmental, 210.1
23glomerulosclerosis, focal segmental, 510.1
24glomerulosclerosis, focal segmental, 610.1
25glomerulosclerosis, focal segmental, 110.1
26child syndrome10.1
27peripheral vascular disease10.1
28glomerulonephritis10.1
29primary hyperoxaluria10.1
30glomerulosclerosis10.1
31kidney disease10.1
32sarcoma10.1
33urinary system disease10.1
34kid syndrome10.1
35coronary heart disease 210.0
36coronary artery disease10.0
37adult syndrome10.0
38coronary heart disease 710.0
39coronary heart disease 910.0
40focal segmental glomerulosclerosis 910.0
41coronary heart disease 310.0
42glomerulosclerosis, focal segmental, 310.0
43meesmann corneal dystrophy10.0
44angina pectoris10.0
45chronic angina10.0
46chronic kidney failure10.0
47chronic myocardial ischemia10.0
48ischemic heart disease10.0
49spondylosis10.0
50glucose intolerance10.0

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



Diseases related to macular corneal dystrophy

Symptoms for Macular Corneal Dystrophy

About this section

Symptoms by clinical synopsis from OMIM:

217800

Clinical features from OMIM:

217800

HPO human phenotypes related to Macular Corneal Dystrophy:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 recurrent corneal erosions HP:0000495
3 photophobia HP:0000613
4 corneal dystrophy HP:0001131
5 abnormality of metabolism/homeostasis HP:0001939
6 juvenile onset HP:0003621
7 macular dystrophy HP:0007754
8 punctate opacification of the cornea HP:0007856

Drugs & Therapeutics for Macular Corneal Dystrophy

About this section

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoloneapprovedPhase 4, Phase 2103350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
2
MethylprednisoloneapprovedPhase 4, Phase 2103383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
3Prednisolone hemisuccinatePhase 4, Phase 21033
4Prednisolone phosphatePhase 4, Phase 21033
5
Loteprednol etabonatePhase 44482034-46-6444025
Synonyms:
82034-46-6
AC1L9FKJ
AKOS005145741
Alrex
Alrex, Lotemax, Loteprednol etabonate
CDDD-5604
CHEBI:31784
CHEMBL1200865
CID444025
CPD000469178
D01689
DB00873
HGP-1
HMS2051F16
IDR-90102
IDR-90103
 
Locort
Loteflam
Lotemax
Lotemax (TN)
Loteprednol etabonate
Loteprednol etabonate (JAN/USAN)
Loterox
MLS001424221
MolPort-003-848-424
NCGC00164594-01
P-5604
S1669_Selleck
SAM001246630
SMR000469178
ZINC03920673
chloromethyl (8S,9S,10R,11S,13S,14S,17R)-17-ethoxycarbonyloxy-11-hydroxy-10,13-dimethyl-3-oxo-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthrene-17-carboxylate
chloromethyl 17alpha-[(ethoxycarbonyl)oxy]-11beta-hydroxy-3-oxoandrosta-1,4-diene-17beta-carboxylate
6Prednisolone acetatePhase 4, Phase 21033
7Methylprednisolone acetatePhase 4, Phase 21033
8Methylprednisolone HemisuccinatePhase 4, Phase 21033
9TetrahydrozolinePhase 4484
10
FluorometholoneapprovedPhase 217426-13-19878
Synonyms:
(1R,2S,8S,10S,11S,14R,15S,17S)-14-acetyl-1-fluoro-14,17-dihydroxy-2,8,15-trimethyltetracyclo[8.7.0.02,7.011,15]heptadeca-3,6-dien-5-one
(6S,8S,9R,10S,11S,13S,14S,17R)-17-acetyl-9-fluoro-11,17-dihydroxy-6,10,13-trimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one
11beta,17alpha-Dihydroxy-9-fluoro-6-methyl-1,4-pregnadiene-3,20-dione
426-13-1
9-Fluoro-11,17-dihydroxy-6-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11-beta,17-dihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11beta,17-dihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
AC-3520
AC1L1U0Y
AI3-52813
Alcon Brand of Fluorometholone
Allergan Brand 1 of Fluorometholone
Allergan Brand 2 of Fluorometholone
Allergan Brand 3 of Fluorometholone
BPBio1_001029
BRD-K64862097-001-03-9
BSPBio_000935
CHEMBL1200600
CID9878
Cortilet
Cortisdin
D005469
D01367
DB00324
Delmeson
EINECS 207-041-5
Efflumidex
F0414
F9381_SIGMA
FML
FML Forte
FML Liquifilm
FML S.O.P
FML-S Liquifilm
Flarex
Fluaton
Flucon
Flucon, Isopto
Flumetholon
Fluor Op
Fluor-OP
Fluor-Op
Fluor-op (TN)
Fluormetholon
Fluormetholone
Fluormetholonum
Fluoro Ophtal
Fluoro-Ophtal
Fluoromethalone
Fluorometholon
Fluorometholone
Fluorometholone (JP15/USP/INN)
 
Fluorometholone Acetate
Fluorometholone [INN:BAN:JAN]
Fluorometholonum
Fluorometholonum [INN-Latin]
Fluorometolona
Fluorometolona [INN-Spanish]
Fluorometolone
Fluorometolone [DCIT]
Fluorométholone
Fluoropos
Fml
Fml (TN)
Fml Forte
HMS1570O17
Isdin Brand of Fluorometholone
Isopto Flucon
LS-118455
Loticort
MLS000069537
MLS001076157
MolPort-003-941-413
NCGC00021575-03
NCI60_002886
NSC 33001
NSC-33001
NSC33001
Neo-Oxylone
Novartis Brand of Fluorometholone
Oxylone
Oxylone (TN)
PMS Fluorometholone
PMS-Fluorometholone
Pharm Allergan Brand of Fluorometholone
Pharm-Allergan Brand of Fluorometholone
Pharmascience Brand of Fluorometholone
Pregna-1,4-diene-3,20-dione, 9-fluoro-11.beta.,17
Pregna-1,4-diene-3,20-dione, 9-fluoro-11beta,17-dihydroxy-6alpha-methyl- (8CI)
Prestwick0_000718
Prestwick1_000718
Prestwick2_000718
Prestwick3_000718
Prestwick_227
SMR000058598
SPBio_002856
Trilcin
U 8614
UNII-SV0CSG527L
Ursapharm Brand of Fluorometholone
Ursnon
Winzer Brand of Fluorometholone
ZINC03876158
component of Neo-Oxylone
fluorometholone
11
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
12
Hyaluronanapproved3289067-32-7, 9004-61-953477741, 24759
Synonyms:
Hyaluronate
Hyaluronic acid
Hyaluronic acid sodium salt
Hylartil
Hyruan Plus
Luronit
Macronan
 
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sodium hyaluronate
Sofast
Synvisc

Interventional clinical trials:

(show all 32)
idNameStatusNCT IDPhase
1Fuchs' Torsional Phaco StudyCompletedNCT00781027Phase 4
2Comparison of Corticosteroid Dosing Regimens After Endothelial KeratoplastyCompletedNCT01853696Phase 4
3Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic KeratectomyRecruitingNCT02373397Phase 4
4Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK)CompletedNCT01448213Phase 2
5Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular DystrophyCompletedNCT00346853Phase 1
6Novel Diagnostics With Optical Coherence Tomography: Imaging the Anterior EyeRecruitingNCT00343473Phase 1
7Combined Cataract Surgery and Planned DescemetorhexisCompletedNCT02206594
8A Comparison Between Full Thickness and Partial Thickness Corneal Transplantation for Corneal EdemaCompletedNCT00346138
9Study of Eye Bank Pre-cut Donor Grafts for Endothelial KeratoplastyCompletedNCT00624221
10Studies in Families With Corneal Dystrophy or Other Inherited Corneal DiseasesRecruitingNCT00357435
11Descemet Membrane Endothelial Keratoplasty (DMEK)RecruitingNCT00521898
12Descemet Stripping (Automated) Endothelial Keratoplasty (DSEK or DSAEK)RecruitingNCT00543660
13DSAEK- Postoperative Positioning and Transplant DislocationRecruitingNCT01206127
14The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal DystrophyRecruitingNCT01795001
15Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK)RecruitingNCT02020044
16Study of Endothelial Keratoplasty OutcomesRecruitingNCT00800111
17ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial DystrophyRecruitingNCT02332109
18Technique And Results In Endothelial KeratoplastyRecruitingNCT02470793
19Comparing Endoglide to Endoserter for DSAEK Graft InsertionRecruitingNCT01791075
20Study of the Effect of Aspheric Lenses in Patients With Fuch's DystrophyRecruitingNCT02109276
21DISCOVER Study: Microscope-integrated Intraoperative OCT StudyRecruitingNCT02423213
22Specular Microscopy StudyRecruitingNCT02478970
23Spectral-domain Optical Coherence Tomography of the EyeRecruitingNCT02614625
24Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and PathologyActive, not recruitingNCT01979250
25Cornea Donor StudyActive, not recruitingNCT00006411
26Comparison of Two Techniques in Achieving Corneal GraftActive, not recruitingNCT01610973
27PIONEER: Intraoperative and Perioperative OCT StudyActive, not recruitingNCT02423161
28Repository for Inherited Eye DiseasesActive, not recruitingNCT00378742
29Using the Optovue OCT to Select IOL PowerEnrolling by invitationNCT01361282
30Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCTNot yet recruitingNCT02542644
31Comparison of Corneal Grafts Cultured in Serum-free Versus Corneal Grafts Cultured in Serum Supplemented Culture MediaNot yet recruitingNCT00623584
32OCT-guided DSAEK Graft Shaping and SmoothingSuspendedNCT01586234

Search NIH Clinical Center for Macular Corneal Dystrophy


Cochrane evidence based reviews: Corneal Dystrophies, Hereditary

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
2 Macular Corneal Dystrophy Type I24

Anatomical Context for Macular Corneal Dystrophy

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MalaCards organs/tissues related to Macular Corneal Dystrophy:

33
Endothelial, Eye, Skin

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:00053918.8COL8A2, KRT12, LUM

Publications for Macular Corneal Dystrophy

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Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 97)
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
Macular corneal dystrophy and associated corneal thinning. (25081284)
2014
5
Concurrent macular corneal dystrophy and keratoconus. (22623870)
2012
6
Molecular genetic analysis of macular corneal dystrophy patients from North India. (22261655)
2012
7
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. (21242781)
2011
8
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
9
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. (19223992)
2009
10
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. (19421034)
2009
11
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (19365571)
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
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
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. (16568029)
2006
17
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. (16207214)
2005
18
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. (15953452)
2005
19
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus. (16084784)
2005
20
Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. (16138998)
2005
21
Concomitant keratoconus and macular corneal dystrophy. (15220737)
2004
22
Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. (15787187)
2004
23
Novel mutations in the CHST6 gene causing macular corneal dystrophy. (14984470)
2004
24
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
25
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. (12883341)
2003
26
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (14609920)
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
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. (11139648)
2000
29
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (11017086)
2000
30
Phototherapeutic keratectomy for macular corneal dystrophy. (10445722)
1999
31
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
32
Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype. (9512173)
1998
33
Macular corneal dystrophy type II: multiple studies on a cornea with low levels of sulphated keratan sulphate. (9246278)
1997
34
Serum sulfotransferase levels in patients with macular corneal dystrophy type I. (9366673)
1997
35
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients. (8684802)
1996
36
Macular corneal dystrophy: reduction in both corneal thickness and collagen interfibrillar spacing. (2340750)
1990
37
Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy. (2394754)
1990
38
Macular corneal dystrophy: the macromolecular structure of the stroma observed using electron microscopy and synchrotron X-ray diffraction. (2515072)
1989
39
Macular corneal dystrophy in Iceland. (2606219)
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 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:

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4CHST6, LUM

GO Terms for genes affiliated with Macular Corneal Dystrophy

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Cellular components related to Macular Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.6KRT12, KRT3
2extracellular matrixGO:00310129.3COL8A2, LUM
3proteinaceous extracellular matrixGO:00055789.2COL8A2, LUM

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

idNameGO IDScoreTop Affiliating Genes
1keratan sulfate biosynthetic processGO:00181469.8CHST6, LUM
2keratan sulfate metabolic processGO:00423399.8CHST6, LUM
3visual perceptionGO:00076019.3KRT12, LUM
4glycosaminoglycan metabolic processGO:00302039.1CHST6, LUM

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.3COL8A2, LUM
2structural molecule activityGO:00051989.2KRT12, KRT3

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