MCID: FCH001
MIFTS: 42

Fuchs' Endothelial Dystrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Fuchs' Endothelial Dystrophy

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Aliases & Descriptions for Fuchs' Endothelial Dystrophy:

Name: Fuchs' Endothelial Dystrophy 10 23 12 36
Fuchs Endothelial Corneal Dystrophy 45 22 23 51
Fecd 45 22 51
Late Hereditary Endothelial Dystrophy 45 51
Endoepithelial Corneal Dystrophy 45 51
Fuchs Endothelial Dystrophy 23 65
Fuchs Dystrophy 23 47
 
Corneal Dystrophy, Fuchs' Endothelial, 1 65
Corneal Dystrophy, Fuchs Endothelial 47
Fuchs' Endothelial Corneal Dystrophy 10
Fuchs' Corneal Dystrophy 10
Fuchs Corneal Dystrophy 23
Fuchs Atrophy 23
Fced 10

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:11555
ICD1027 H18.51
MeSH36 D005642
NCIt42 C84721
Orphanet51 98974
ICD10 via Orphanet28 H18.5
UMLS65 C0016781, C1850959

Summaries for Fuchs' Endothelial Dystrophy

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NIH Rare Diseases:45 Fuchs endothelial corneal dystrophy (fecd) is an eye disease. it affects the thin layer of cells that line the back part of the cornea. this layer is called the endothelium. the disease occurs when these cells slowly start to die off. the cells help pump excess fluid out of the cornea. as more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. there are several forms of the disease according to the age of onset of the symptoms and the cause. the early-onset form is very rare and is known as fuchs endothelial corneal dystrophy 1 (or early-onset fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the col8a2 gene. late-onset fuchs endothelial corneal dystrophies are common and include:fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13) fuchs endothelial corneal dystrophy 3 (may be caused by tcf4 gene mutations) fuchs endothelial corneal dystrophy 4 (caused by a mutation in the slc4a11 gene) fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15) fuchs endothelial corneal dystrophy 6 (caused by a mutation in the zeb1 gene) fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9) fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the agbl1 gene).  early in the disease, patients typically do not have symptoms. in the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases. last updated: 2/3/2016

MalaCards based summary: Fuchs' Endothelial Dystrophy, also known as fuchs endothelial corneal dystrophy, is related to cervicitis and corneal dystrophy, fuchs endothelial, 3. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (Collagen Type VIII Alpha 2), and among its related pathways are TP53 network and Vinka Alkaloid Pathway, Pharmacokinetics. Affiliated tissues include endothelial, eye and liver, and related mouse phenotypes are hearing/vestibular/ear and respiratory 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.

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.

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 77)
idRelated DiseaseScoreTop Affiliating Genes
1cervicitis29.6AGBL1, COL8A2, SLC4A11, TCF4, TGFBI, VSX1
2corneal dystrophy, fuchs endothelial, 312.1
3corneal dystrophy, fuchs endothelial, 111.6
4corneal dystrophy, fuchs endothelial, 510.5
5pancreatitis10.4
6lung cancer10.3
7measles10.3
8fallopian tube teratoma10.3BAX, BCL2
9breast cancer10.3
10retinitis10.3
11lymphoproliferative syndrome, x-linked, 210.2COL8A2, SLC4A11, VSX1
12congenital sucrase-isomaltase deficiency without starch intolerance10.2BAX, BCL2
13fuchs' endothelial dystrophy10.2COL8A2, SLC4A11, TGFBI
14corneal dystrophy, epithelial basement membrane10.1COL8A2, SLC4A11, TGFBI
15posterior amorphous corneal dystrophy10.1COL8A2, TGFBI
16rheumatoid arthritis10.1
17colorectal cancer10.1
18systemic lupus erythematosus10.1
19obesity10.1
20pfeiffer syndrome10.1
21prader-willi syndrome10.1
22alveolar soft-part sarcoma10.1
23becker muscular dystrophy10.1
24arthritis10.1
25craniosynostosis10.1
26leukemia10.1
27retinal vein occlusion10.1
28ulcerative colitis10.1
29dengue shock syndrome10.1
30colitis10.1
31sarcoma10.1
32chlamydia10.1
33cicatricial pemphigoid10.1
34gestational diabetes10.1
35esophagitis10.1
36synostosis10.1
37chagas disease10.1
38crimean-congo hemorrhagic fever10.1
39von willebrand's disease10.1
40hypochondriasis10.1
41tuberous sclerosis10.1
42keratosis10.1
43bone cancer10.1
44melanoma10.1
45ovarian cancer10.1
46central retinal vein occlusion10.1
47papilloma10.1
48pigmented villonodular synovitis10.1
49synovitis10.1
50dermatitis10.1

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 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethylprednisoloneapprovedPhase 4, Phase 2108283-43-26741
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 2108250-24-85755
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
3Ophthalmic SolutionsPhase 4, Phase 1, Phase 21006
4Neuroprotective AgentsPhase 4, Phase 21376
5Protective AgentsPhase 4, Phase 25651
6Peripheral Nervous System AgentsPhase 4, Phase 218510
7Pharmaceutical SolutionsPhase 4, Phase 2, Phase 17004
8Prednisolone hemisuccinatePhase 4, Phase 21082
9Prednisolone acetatePhase 4, Phase 21082
10Methylprednisolone HemisuccinatePhase 4, Phase 21082
11Prednisolone phosphatePhase 4, Phase 21082
12Methylprednisolone acetatePhase 4, Phase 21082
13Gastrointestinal AgentsPhase 4, Phase 26401
14Antineoplastic Agents, HormonalPhase 4, Phase 24256
15Anti-Inflammatory AgentsPhase 4, Phase 28478
16AntiemeticsPhase 4, Phase 23213
17Anti-Allergic AgentsPhase 4, Phase 21312
18glucocorticoidsPhase 4, Phase 23896
19
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
20Hormone AntagonistsPhase 4, Phase 210002
21Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 29988
22HormonesPhase 4, Phase 211748
23
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
24
Hyaluronanapproved3629067-32-7, 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 Elamipretide 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
11Study of the Effect of Aspheric Lenses in Patients With Fuch's DystrophyRecruitingNCT02109276
12The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal DystrophyRecruitingNCT01795001
13Technique And Results In Endothelial KeratoplastyRecruitingNCT02470793
14DSAEK- Postoperative Positioning and Transplant DislocationRecruitingNCT01206127
15Comparing Endoglide to Endoserter for DSAEK Graft InsertionRecruitingNCT01791075
16DISCOVER Study: Microscope-integrated Intraoperative OCT StudyRecruitingNCT02423213
17Study of Endothelial Keratoplasty OutcomesRecruitingNCT00800111
18Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK)RecruitingNCT02020044
19Early Experience With Descemet's Stripping Automated Endothelial KeratoplastyRecruitingNCT00744796
20Specular Microscopy StudyRecruitingNCT02478970
21ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial DystrophyActive, not recruitingNCT02332109
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, Liver, Skin, Neutrophil, T cells, Myeloid

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:00053778.8AQP1, BAX, BCL2, SLC4A11, TCF4, ZEB1
2MP:00053888.5AQP1, BAX, BCL2, PITX2, PRDX3, PRDX6
3MP:00053878.0BAX, BCL2, CLU, FBXO7, PITX2, PRDX2
4MP:00053917.3AQP1, BAX, BCL2, COL8A1, COL8A2, FBXO7

Publications for Fuchs' Endothelial Dystrophy

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Articles related to Fuchs' Endothelial Dystrophy:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Coronary atherosclerosis burden is not advanced in patients with I^-thalassemia despite premature extracardiac atherosclerosis: a coronary artery calcium score and carotid intima-media thickness study. (27168742)
2016
2
Mini-implants: alternative for oral rehabilitation of a child with ectodermal dysplasia. (25672389)
2015
3
Estrogen and progesterone decrease let-7f microRNA expression and increase IL-23/IL-23 receptor signaling and IL-17A production in patients with severe asthma. (26242299)
2015
4
A Prognostic Model for Development of Profound Shock among Children Presenting with Dengue Shock Syndrome. (25946113)
2015
5
Overcoming Acquired BRAF Inhibitor Resistance in Melanoma via Targeted Inhibition of Hsp90 with Ganetespib. (24398428)
2014
6
Reduction of urinary catheter use and prescription of antibiotics for asymptomatic bacteriuria in hospitalised patients in internal medicine: before-and-after intervention study. (23740332)
2013
7
An Extra-adrenal Pheochromocytoma Presenting as Malignant Hypertension-A Report of two cases. (23905134)
2013
8
VI nerve palsy after intravenous immunoglobulin in Kawasaki disease. (23340202)
2013
9
Hypovascular hepatic nodules showing hypointense on the hepatobiliary-phase image of Gd-EOB-DTPA-enhanced MRI to develop a hypervascular hepatocellular carcinoma: a nationwide retrospective study on their natural course and risk factors. (24281023)
2013
10
Colonic transit before and after resection rectopexy for full-thickness rectal prolapse. (23913016)
2013
11
The rubber hand illusion in complex regional pain syndrome: preserved ability to integrate a rubber hand indicates intact multisensory integration. (23706626)
2013
12
Lower extremity deep venous thrombosis with fatal pulmonary thromboembolism caused by benign pelvic space-occupying lesions--an overview. (22268621)
2012
13
Cytogenetic and therapeutic characterization of primary plasma cell leukemia: the IFM experience. (21799511)
2012
14
Imatinib-induced liver cirrhosis in a patient with advanced gastrointestinal stroma tumor (GIST). (22612794)
2012
15
Identification of key proteins of cultured human intestinal cells involved in interaction with enteroaggregative Escherichia coli. (22672426)
2012
16
High survivin expression as a predictor of poor response to preoperative chemoradiotherapy in locally advanced rectal cancer. (21424389)
2011
17
Epidermodysplasia verruciformis-like syndrome in association with systemic lupus erythematosus. (19178492)
2009
18
Clinical significance of posterior circulation changes after revascularization in patients with moyamoya disease. (19602876)
2009
19
Hepatorenal syndrome: pathogenesis and treatment]. (17760404)
2007
20
Visceral coverage with absorbable mesh followed by split-thickness skin graft in the treatment of ruptured giant omphalocele. (17043872)
2007
21
Upregulation of basic fibroblast growth factor in smokers with chronic bronchitis. (16510460)
2006
22
Localization and quantitative expression of the calcium-sensing receptor protein in human oocytes. (16616098)
2006
23
Mutation, loss of heterozygosity, and expression of tumor suppressor gene ING1 in sporadic colorectal carcinoma]. (15694021)
2005
24
Fatty liver in dairy cows post partum is associated with decreased concentration of plasma triacylglycerols and decreased activity of lipoprotein lipase in adipocytes. (15909677)
2005
25
Immunoregulatory effects of regulated, lung-targeted expression of IL-10 in vivo. (15466252)
2005
26
Human milk proteins: key components for the biological activity of human milk. (15384564)
2004
27
Estrogen receptor activation at serine 305 is sufficient to upregulate cyclin D1 in breast cancer cells. (15178330)
2004
28
Partial contribution of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)/TRAIL receptor pathway to antitumor effects of interferon-alpha/5-fluorouracil against Hepatocellular Carcinoma. (15585621)
2004
29
Communication problems with environment-related health disorders as illustrated by a multiple chemical sensitivity (MCS) chatroom. (15729837)
2004
30
Association of seven polymorphisms of the D2 dopamine receptor gene with brain receptor-binding characteristics. (12587665)
2003
31
The EBF/Olf/Collier family of transcription factors: regulators of differentiation in cells originating from all three embryonal germ layers. (12446759)
2002
32
Glycogen synthase kinase-3 is associated with neuronal and glial hyperphosphorylated tau deposits in Alzheimer's disease, Pick's disease, progressive supranuclear palsy and corticobasal degeneration. (12410379)
2002
33
Promotion of metastasis in nasopharyngeal carcinoma by Epstein-Barr virus latent membrane protein-1. (12168795)
2002
34
Effects of hormone replacement therapy on plasma homocysteine and C-reactive protein levels. (11803230)
2002
35
The distribution of two different vitamin D receptor polymorphisms (BsmI and start codon) in primary hyperparathyroidism. (10672140)
2000
36
YY1 binds five cis-elements and trans-activates the myeloid cell-restricted gp91(phox) promoter. (10514482)
1999
37
Mycobacterium kansasii infection in a Paris suburb: comparison of disease presentation and outcome according to human immunodeficiency virus status. Groupe dEtude Des MycobactAcries de la Seine-Saint-Denis. (10094172)
1999
38
Specific binding of phosphatidylinositol 4,5-bisphosphate to calcium-dependent activator protein for secretion (CAPS), a potential phosphoinositide effector protein for regulated exocytosis. (9525942)
1998
39
Anterior spinal artery syndrome associated with severe stenosis of the vertebral artery. (9726482)
1998
40
Prolactinoma. (9174699)
1997
41
Multivariate discriminant analysis of biochemical parameters for the differentiation of clinically confounding liver diseases. (9028625)
1997
42
Antisense oligonucleotides specific for transforming growth factor beta2 inhibit the growth of malignant mesothelioma both in vitro and in vivo. (9242450)
1997
43
The definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. (8740670)
1996
44
Agonist-stimulated phosphorylation of the G protein-coupled receptor for parathyroid hormone (PTH) and PTH-related protein. (7664644)
1995
45
Increased risk of small intestinal atresia among twins in the United States. (8019630)
1994
46
Vasoconstriction with norepinephrine causes less forearm insulin resistance than a reflex sympathetic vasoconstriction. (8206583)
1994
47
Cloning and sequencing of the cDNA encoding rice elongation factor 1 beta'. (1397289)
1992
48
Treatment of patients with recurrent gliomas with cyclophosphamide and vincristine. (2319317)
1990
49
In vivo priming of human normal neutrophils by granulocyte-macrophage colony stimulating factor: effect on the production of platelet activating factor. (2201401)
1990
50
T cell defect in lepromatous leprosy is reversible in vitro in the absence of exogenous growth factors. (2947952)
1987

Variations for Fuchs' Endothelial Dystrophy

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Clinvar genetic disease variations for Fuchs' Endothelial Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL8A2NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys)single nucleotide variantPathogenicrs80358191GRCh37Chr 1, 36563919: 36563919
2COL8A2NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp)single nucleotide variantPathogenicrs80358192GRCh37Chr 1, 36563933: 36563933

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1leukocyte homeostasisGO:000177610.5BAX, BCL2
2regulation of mitochondrial membrane potentialGO:005188110.5BAX, BCL2
3positive regulation of developmental pigmentationGO:004808710.5BAX, BCL2
4positive regulation of intrinsic apoptotic signaling pathwayGO:200124410.5BAX, BCL2
5extrinsic apoptotic signaling pathway in absence of ligandGO:009719210.5BAX, BCL2
6homeostasis of number of cells within a tissueGO:004887310.5BAX, BCL2
7neuron apoptotic processGO:005140210.5BAX, BCL2
8cellular response to organic substanceGO:007131010.5BAX, BCL2
9cellular response to UVGO:003464410.5AQP1, BAX
10intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:007005910.3BAX, BCL2
11odontogenesisGO:004247610.3AQP1, PITX2
12bicarbonate transportGO:001570110.3AQP1, SLC4A11
13response to gamma radiationGO:001033210.2BAX, BCL2
14endoplasmic reticulum calcium ion homeostasisGO:003246910.2BAX, BCL2
15hydrogen peroxide catabolic processGO:004274410.2PRDX3, PRDX6
16male gonad developmentGO:000858410.1BAX, BCL2, PITX2
17extrinsic apoptotic signaling pathway via death domain receptorsGO:000862510.1BAX, BCL2
18cellular response to reactive oxygen speciesGO:003461410.1PRDX3, PRDX5
19negative regulation of neuron apoptotic processGO:004352410.0BAX, BCL2, PRDX2
20negative regulation of apoptotic signaling pathwayGO:200123410.0BAX, BCL2
21regulation of protein heterodimerization activityGO:004349710.0BAX, BCL2
22response to oxidative stressGO:00069799.2BCL2, PRDX2, PRDX3, PRDX6
23negative regulation of apoptotic processGO:00430668.4AQP1, BCL2, CLU, PRDX2, PRDX3, PRDX5

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