MCID: FCH001
MIFTS: 43

Fuchs' Endothelial Dystrophy malady

Genetic diseases, Eye diseases, Rare diseases categories

Aliases & Classifications for Fuchs' Endothelial Dystrophy

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Sources:
10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 36MeSH, 22GeneTests, 51Orphanet, 65UMLS, 47Novoseek, 59SNOMED-CT, 29ICD9CM, 42NCIt, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Fuchs' Endothelial Dystrophy:

Name: Fuchs' Endothelial Dystrophy 10 23 12 36
Fuchs' Endothelial Corneal Dystrophy 10 22
Fuchs Endothelial Corneal Dystrophy 23 51
Fuchs Endothelial Dystrophy 23 65
Fuchs Dystrophy 23 47
Fecd 22 51
Corneal Dystrophy, Fuchs' Endothelial, 1 65
 
Late Hereditary Endothelial Dystrophy 51
Corneal Dystrophy, Fuchs Endothelial 47
Endoepithelial Corneal Dystrophy 51
Fuchs' Corneal Dystrophy 10
Fuchs Corneal Dystrophy 23
Fuchs Atrophy 23
Fced 10


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
fuchs endothelial corneal dystrophy:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Age of onset: Adult


External Ids:

Disease Ontology10 DOID:11555
ICD9CM29 371.57
NCIt42 C84721
MeSH36 D005642
Orphanet51 98974
ICD10 via Orphanet28 H18.5

Summaries for Fuchs' Endothelial Dystrophy

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Genetics Home Reference:23 Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.

MalaCards based summary: Fuchs' Endothelial Dystrophy, also known as fuchs' endothelial corneal dystrophy, is related to corneal dystrophy and corneal edema. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (Collagen, Type VIII, Alpha 2), and among its related pathways are Vinka Alkaloid Pathway, Pharmacokinetics and Apoptosis Signaling Pathways. Affiliated tissues include endothelial and eye, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:10 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of descemet's membrane, leading to corneal edema and loss of vision.

Wikipedia:68 Fuchs\' dystrophy (pronounced fooks-DIS-trə-fe), also known as Fuchs\' corneal endothelial dystrophy or... more...

Related Diseases for Fuchs' Endothelial Dystrophy

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Diseases related to Fuchs' Endothelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy30.4AGBL1, COL8A2, PITX2, SLC4A11, TCF4, TGFBI
2corneal edema30.3AGBL1, COL8A2, SLC4A11, TGFBI, VSX1, ZEB1
3endotheliitis11.1
4corneal dystrophy, fuchs endothelial, 710.7
5corneal dystrophy, fuchs endothelial, 610.6
6corneal dystrophy, fuchs endothelial, 410.6
7cataract10.6
8keratopathy10.6
9bullous keratopathy10.6
10corneal dystrophy, fuchs endothelial, 110.5
11keratoconus10.5
12corneal dystrophy, fuchs endothelial, 210.4
13macular corneal dystrophy10.4
14spiradenoma10.4
15corneal disease10.4
16eye disease10.4
17globe disease10.4
18ocular hypertension10.4
19corneal deposit10.4
20tooth disease10.4
21myotonic dystrophy10.4
22posterior cortical atrophy10.4
23neonatal respiratory failure10.3COL8A2, VSX1
24spinocerebellar ataxia10.3BCL2, MUC1
25cataract 1, multiple types10.3
26cataract 2, multiple types10.3
27anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3
28c syndrome10.3
29corneal dystrophy, fuchs endothelial, 510.3
30corneal dystrophy, fuchs endothelial, 810.3
31corneal dystrophy, fuchs endothelial, 310.3
32cataract 3, multiple types10.3
33congenital ichthyosiform erythroderma10.3
34chandler syndrome10.3
35blepharospasm10.3
36iris disease10.3
37sexual disorder10.3
38corneal endothelial dystrophy type 210.3
39iridocorneal endothelial syndrome10.3
40uveal diseases10.3
41thyroid carcinoma with thyrotoxicosis10.2BCL2, MUC1
42residual stage of open angle glaucoma10.2KRT20, MUC1
43cartilage-hair hypoplasia10.2BAX, BCL2, FASLG
44mast cell neoplasm10.2BAX, BCL2
45coronary aneurysm10.2KRT20, MUC1
46craniofacial anomalies and anterior segment dysgenesis syndrome10.2COL8A2, VSX1, ZEB1
47pharynx squamous cell carcinoma10.2BCL2, KRT20, MUC1
48pagod syndrome10.2KRT20, MUC1
49bile duct cystadenoma10.1FASLG, KRT20, MUC1
50paralytic poliomyelitis10.1KRT20, MUC1

Graphical network of the top 20 diseases related to Fuchs' Endothelial Dystrophy:



Diseases related to fuchs' endothelial dystrophy

Symptoms for Fuchs' Endothelial Dystrophy

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Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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Drugs for Fuchs' Endothelial Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
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
3Prednisolone hemisuccinatePhase 4, Phase 21033
4Prednisolone phosphatePhase 4, Phase 21033
5Methylprednisolone acetatePhase 4, Phase 21033
6Prednisolone acetatePhase 4, Phase 21033
7
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
8Methylprednisolone HemisuccinatePhase 4, Phase 21033
9
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
10
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 29)
idNameStatusNCT IDPhase
1Fuchs' Torsional Phaco StudyCompletedNCT00781027Phase 4
2Comparison of Corticosteroid Dosing Regimens After Endothelial KeratoplastyCompletedNCT01853696Phase 4
3Intrastromal Corneal Ring for High Astigmatism on PostkeratoplastyCompletedNCT01018797Phase 4
4Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK)Active, not recruitingNCT01357122Phase 4
5Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK)CompletedNCT01448213Phase 2
6A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED)RecruitingNCT02653391Phase 1, Phase 2
7Novel Diagnostics With Optical Coherence Tomography: Imaging the Anterior EyeRecruitingNCT00343473Phase 1
8Study of Eye Bank Pre-cut Donor Grafts for Endothelial KeratoplastyCompletedNCT00624221
9Combined Cataract Surgery and Planned DescemetorhexisCompletedNCT02206594
10A Comparison Between Full Thickness and Partial Thickness Corneal Transplantation for Corneal EdemaCompletedNCT00346138
11ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial DystrophyRecruitingNCT02332109
12Study of the Effect of Aspheric Lenses in Patients With Fuch's DystrophyRecruitingNCT02109276
13The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal DystrophyRecruitingNCT01795001
14Technique And Results In Endothelial KeratoplastyRecruitingNCT02470793
15DSAEK- Postoperative Positioning and Transplant DislocationRecruitingNCT01206127
16Comparing Endoglide to Endoserter for DSAEK Graft InsertionRecruitingNCT01791075
17DISCOVER Study: Microscope-integrated Intraoperative OCT StudyRecruitingNCT02423213
18Study of Endothelial Keratoplasty OutcomesRecruitingNCT00800111
19Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK)RecruitingNCT02020044
20Early Experience With Descemet's Stripping Automated Endothelial KeratoplastyRecruitingNCT00744796
21Specular Microscopy StudyRecruitingNCT02478970
22Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and PathologyActive, not recruitingNCT01979250
23Comparison of Two Techniques in Achieving Corneal GraftActive, not recruitingNCT01610973
24PIONEER: Intraoperative and Perioperative OCT StudyActive, not recruitingNCT02423161
25Cornea Donor StudyActive, not recruitingNCT00006411
26Using the Optovue OCT to Select IOL PowerEnrolling by invitationNCT01361282
27Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCTNot yet recruitingNCT02542644
28Comparison of Corneal Grafts Cultured in Serum-free Versus Corneal Grafts Cultured in Serum Supplemented Culture MediaNot yet recruitingNCT00623584
29OCT-guided DSAEK Graft Shaping and SmoothingSuspendedNCT01586234

Search NIH Clinical Center for Fuchs' Endothelial Dystrophy


Cochrane evidence based reviews: Fuchs' Endothelial Dystrophy

Genetic Tests for Fuchs' Endothelial Dystrophy

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Genetic tests related to Fuchs' Endothelial Dystrophy:

id Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy22

Anatomical Context for Fuchs' Endothelial Dystrophy

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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

33
Endothelial, Eye

Animal Models for Fuchs' Endothelial Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2AQP1, BAX, BCL2, LOXHD1, SLC4A11, TCF4
2MP:00053679.0AQP1, BAX, BCL2, CLU, FASLG, PRDX6
3MP:00053888.3AQP1, BAX, BCL2, FASLG, PITX2, PRDX3
4MP:00053848.1BAX, BCL2, COL8A2, FASLG, PITX2, PRDX2
5MP:00036318.1AQP1, BAX, BCL2, CLU, FASLG, LOXHD1
6MP:00053878.0BAX, BCL2, CLU, FASLG, PITX2, PRDX2
7MP:00053918.0AQP1, BAX, BCL2, COL8A2, FASLG, MUC1
8MP:00053767.2AQP1, BAX, BCL2, CLU, FASLG, MUC1

Publications for Fuchs' Endothelial Dystrophy

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Articles related to Fuchs' Endothelial Dystrophy:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Unusual Histopathological Views of Fuchs' Endothelial Dystrophy. (26498080)
2015
2
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. (26087656)
2015
3
Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy. (24508788)
2014
4
Vision-related Quality of Life Before and After Keratoplasty for Fuchs' Endothelial Dystrophy. (25015214)
2014
5
A retrospective study of the association between Fuchs' endothelial dystrophy and glaucoma. (25378902)
2014
6
Corneal Abnormalities Early in the Course ofA Fuchs' Endothelial Dystrophy. (25156138)
2014
7
Outcome of Two Corneal Collagen Crosslinking Methods in Bullous Keratopathy due to Fuchs' Endothelial Dystrophy. (25484904)
2014
8
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. (23607620)
2013
9
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. (23901260)
2013
10
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. (22480739)
2012
11
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. (22234156)
2012
12
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. (20847662)
2011
13
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. (21045656)
2011
14
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. (20597912)
2010
15
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. (19320314)
2009
16
Descemet's stripping automated endothelial keratoplasty and penetrating keratoplasty for Fuchs' endothelial dystrophy. (19302079)
2009
17
Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. (19507099)
2009
18
Increased clusterin expression in Fuchs' endothelial dystrophy. (18378577)
2008
19
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. (18580259)
2008
20
Decreased expression of peroxiredoxins in Fuchs' endothelial dystrophy. (18378575)
2008
21
Simultaneous phacoemulsification and DSEK in patients with concomitant cataract and bullous keratopathy due to Fuchs endothelial dystrophy. (18812092)
2008
22
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. (17964396)
2007
23
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. (16876867)
2006
24
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. (17102674)
2006
25
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. (17057173)
2006
26
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. (16996603)
2006
27
Cataract extraction in eyes with Fuchs' endothelial dystrophy in China. (16098269)
2005
28
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (15175909)
2004
29
Corneal decompensation after laser in situ keratomileusis in fuchs' endothelial dystrophy. (12792486)
2003
30
Mechanisms of disease: Fuchs' endothelial dystrophy. (12064077)
2002
31
The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. (11709009)
2001
32
Fuchs' endothelial dystrophy: a fresh look at an aging disease. (10627840)
1999
33
Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. (10396196)
1999
34
In vivo confocal microscopy of Fuchs' endothelial dystrophy. (9756443)
1998
35
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
36
Diagnosis of advanced Fuchs' endothelial dystrophy with the confocal microscope. (8238235)
1993
37
Blepharospasm and Fuchs' endothelial dystrophy. (8119439)
1993
38
Fuchs' endothelial dystrophy of the cornea. (8235998)
1993
39
Keratoconus and Fuchs' endothelial dystrophy. (1889226)
1991
40
Cataract formation following corneal transplantation in eyes with Fuchs' endothelial dystrophy. (2078957)
1990
41
Characterization of stroma from Fuchs' endothelial dystrophy corneas. (2785446)
1989
42
Moderate Fuchs' endothelial dystrophy ATPase pump site density. (2545644)
1989
43
Cytochrome oxidase activity of Fuchs' endothelial dystrophy. (3026733)
1986
44
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
45
Long term results of corneal grafting in Fuchs' endothelial dystrophy. (6380203)
1984
46
Is there an association between Fuchs' endothelial dystrophy and cardiovascular disease? (6333375)
1984
47
Bullous keratopathy (Fuchs' endothelial dystrophy) treated systemically with 4-trans-amino-cyclohexano-carboxylic acid. (302548)
1977
48
Inheritance of Fuchs' endothelial dystrophy. (5313141)
1971
49
Fate of successful corneal grafts in Fuchs' endothelial dystrophy. (4900890)
1969
50
THE FINE STRUCTURE OF THE CORNEA IN FUCHS' ENDOTHELIAL DYSTROPHY. (14121146)
1964

Variations for Fuchs' Endothelial Dystrophy

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Clinvar genetic disease variations for Fuchs' Endothelial Dystrophy:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1ZEB1NM_030751.5(ZEB1): c.233A> C (p.Asn78Thr)single nucleotide variantPathogenicrs80194531GRCh37Chr 10, 31750140: 31750140
2ZEB1NM_030751.5(ZEB1): c.2519A> C (p.Gln840Pro)single nucleotide variantPathogenicrs118020901GRCh37Chr 10, 31810782: 31810782
3SLC4A11NM_001174089.1(SLC4A11): c.2078G> A (p.Gly693Glu)single nucleotide variantPathogenicrs267607064GRCh37Chr 20, 3209598: 3209598
4SLC4A11NM_001174089.1(SLC4A11): c.2213C> T (p.Thr738Met)single nucleotide variantPathogenicrs267607066GRCh37Chr 20, 3209333: 3209333
5SLC4A11SLC4A11, 2-BP DEL, 99TCdeletionPathogenic
6SLC4A11NM_001174089.1(SLC4A11): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs267607065GRCh37Chr 20, 3211600: 3211600
7COL8A2NM_005202.3(COL8A2): c.1363_1364delCAinsGTindelPathogenicrs727504229GRCh37Chr 1, 36563918: 36563919
8COL8A2NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys)single nucleotide variantPathogenicrs80358191GRCh37Chr 1, 36563919: 36563919
9COL8A2NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp)single nucleotide variantPathogenicrs80358192GRCh37Chr 1, 36563933: 36563933
10TCF4TCF4, (CTG)n EXPANSIONNT expansionPathogenic
11AGBL1NM_152336.2(AGBL1): c.3082C> T (p.Arg1028Ter)single nucleotide variantPathogenicrs185919705GRCh37Chr 15, 87217666: 87217666
12AGBL1NM_152336.2(AGBL1): c.2969G> C (p.Cys990Ser)single nucleotide variantPathogenicrs181958589GRCh37Chr 15, 87217553: 87217553

Expression for genes affiliated with Fuchs' Endothelial Dystrophy

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Search GEO for disease gene expression data for Fuchs' Endothelial Dystrophy.

Pathways for genes affiliated with Fuchs' Endothelial Dystrophy

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GO Terms for genes affiliated with Fuchs' Endothelial Dystrophy

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Cellular components related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pore complexGO:004693010.6BAX, BCL2
2mitochondrial membraneGO:003196610.2BAX, BCL2, CLU
3extracellular exosomeGO:00700627.5AQP1, BAX, CLU, FASLG, MUC1, PRDX2

Biological processes related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1regulation of nitrogen utilizationGO:000680810.6BAX, BCL2
2positive regulation of developmental pigmentationGO:004808710.6BAX, BCL2
3retinal cell programmed cell deathGO:004666610.6BAX, FASLG
4cellular response to stressGO:003355410.6AQP1, KRT20
5regulation of protein homodimerization activityGO:004349610.5BAX, BCL2
6leukocyte homeostasisGO:000177610.5BAX, BCL2
7endoplasmic reticulum calcium ion homeostasisGO:003246910.4BAX, BCL2
8regulation of protein heterodimerization activityGO:004349710.4BAX, BCL2
9extrinsic apoptotic signaling pathway via death domain receptorsGO:000862510.2BAX, BCL2, FASLG
10release of cytochrome c from mitochondriaGO:000183610.2BAX, BCL2, CLU
11intrinsic apoptotic signaling pathwayGO:009719310.1BAX, BCL2, CLU
12regulation of mitochondrial membrane potentialGO:005188110.0BAX, BCL2, PRDX3
13positive regulation of intrinsic apoptotic signaling pathwayGO:200124410.0BAX, BCL2, CLU
14male gonad developmentGO:00085849.7BAX, BCL2, PITX2
15negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.5AQP1, FASLG, PRDX3, PRDX5
16response to reactive oxygen speciesGO:00003029.4PRDX2, PRDX3, PRDX5, PRDX6
17negative regulation of apoptotic processGO:00430669.1AQP1, BCL2, PRDX2, PRDX3, PRDX5
18hydrogen peroxide catabolic processGO:00427448.9PRDX2, PRDX3, PRDX5, PRDX6
19response to oxidative stressGO:00069798.7BCL2, PRDX2, PRDX3, PRDX5, PRDX6
20apoptotic processGO:00069158.3BAX, BCL2, FASLG, KRT20, PRDX3, PRDX5

Molecular functions related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BH3 domain bindingGO:005143410.3BAX, BCL2
2channel activityGO:001526710.3BAX, BCL2
3thioredoxin peroxidase activityGO:000837910.2PRDX2, PRDX3
4peroxiredoxin activityGO:00519209.4PRDX2, PRDX3, PRDX5, PRDX6
5antioxidant activityGO:00162099.4PRDX2, PRDX3, PRDX5, PRDX6
6oxidoreductase activityGO:00164919.0PRDX2, PRDX3, PRDX5, PRDX6

Sources for Fuchs' Endothelial 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