MCID: VTL001
MIFTS: 41

Vitelliform Macular Dystrophy malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Vitelliform Macular Dystrophy

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Aliases & Descriptions for Vitelliform Macular Dystrophy:

Name: Vitelliform Macular Dystrophy 11 24 13 25 66
Juvenile-Onset Vitelliform Macular Dystrophy 11 66
Vitelliform Dystrophy 24 25
 
Macular Dystrophy, Vitelliform 48
Best Macular Dystrophy 11
Best Disease 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050661
ICD1028 H35.5

Summaries for Vitelliform Macular Dystrophy

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Genetics Home Reference:24 Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.

MalaCards based summary: Vitelliform Macular Dystrophy, also known as juvenile-onset vitelliform macular dystrophy, is related to best vitelliform macular dystrophy and prph2-related adult-onset vitelliform macular dystrophy. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1), and among its related pathways is Ion channel transport. Affiliated tissues include retina, eye and lung.

Disease Ontology:11 A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.

Wikipedia:69 Vitelliform macular dystrophy or vitelliform dystrophy is an irregular autosomal dominant eye disorder... more...

Related Diseases for Vitelliform Macular Dystrophy

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Diseases in the Vitelliform Macular Dystrophy family:

Macular Dystrophy, Vitelliform, 5 Macular Dystrophy, Vitelliform, 3
Macular Dystrophy, Vitelliform, 4 Macular Dystrophy, Vitelliform, 2
Prph2-Related Adult-Onset Vitelliform Macular Dystrophy

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1best vitelliform macular dystrophy12.7
2prph2-related adult-onset vitelliform macular dystrophy12.2
3macular dystrophy, vitelliform, 212.0
4macular dystrophy, vitelliform, 311.9
5macular dystrophy, vitelliform, 411.7
6macular dystrophy, atypical vitelliform11.5
7choroiditis10.6
8retinitis10.5
9macular dystrophy, vitelliform, 510.4
10macular holes10.2
11kearns-sayre syndrome10.1
12retinal detachment10.1
13central serous chorioretinopathy10.1
14bladder disease10.0BEST1, BEST2, PRPH2
15tendinitis9.9IMPG1, PRPH2
16macular dystrophy, patterned, 19.7PRPH2, ROM1
17branchiootorenal spectrum disorders9.5BEST1, FEN1, ROM1
18senile reticular retinal degeneration9.5BEST1, PRPH2, ROM1
19fundus pulverulentus9.3PRPH2, ROM1
20ovarian embryonal carcinoma9.3BEST1, PRPH2, ROM1
21methylmalonic aciduria, mut(0) type9.3BEST1, IMPG1, IMPG2, PRPH2
22localized scleroderma9.2BEST1, PRPH2, ROM1
23macular degeneration, age-related, 19.1BEST1, IMPG1, IMPG2, PRPH2
24osteopoikilosis and dacryocystitis9.0BEST1, IMPG2, PRPH2, ROM1
25hypertrichotic osteochondrodysplasia9.0BEST1, IMPG2, PRPH2, ROM1
26ichthyosis, congenital, autosomal recessive 39.0BEST1, IMPG2, PRPH2, ROM1
27carnitine deficiency, systemic primary8.9BEST1, IMPG2, PRPH2, ROM1
28porokeratosis 9, multiple types8.9BEST1, IMPG2, PRPH2, ROM1
29immunodeficiency 41 with lymphoproliferation and autoimmunity8.9BEST1, IMPG2, PRPH2, ROM1
30van buchem disease8.8BEST1, IMPG2, PRPH2, ROM1
31scar contracture8.2BEST1, IMPG1, IMPG2, PRPH2, ROM1
32partial fetal alcohol syndrome6.9BEST1, BEST2, BEST3, BEST4, FEN1, IMPG1

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



Diseases related to vitelliform macular dystrophy

Symptoms for Vitelliform Macular Dystrophy

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Drugs & Therapeutics for Vitelliform Macular Dystrophy

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DocetaxelApproved May 1996Phase 21880114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
2
alemtuzumabPhase 2303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
3
VinorelbinePhase 235871486-22-160780, 44424639
Synonyms:
5'-Noranhydrovinblastine
71486-22-1
AC1L1KVK
AC1L1TWQ
AC1L75Q4
ANX-530
Ambap71486-22-1
BIDD:PXR0186
C45H54N4O8
CHEBI:480999
CHEMBL607994
CID355119
CID5311497
CID5672
CID60780
CID6426842
D08680
DB00361
Eunades
Exelbine
HMS2090E13
HSDB 7665
I06-0084
I06-0085
KW 2307
KW 2307 base
KW-2307
 
LS-97533
MolPort-006-822-661
MolPort-006-823-869
NCGC00165966-02
NVB
Navelbine
Navelbine (TN)
Navelbine Base
Navelbine base
Nor-5'-anhydrovinblastine
SDP-012
UNII-Q6C979R91Y
Vinorelbin
Vinorelbina
Vinorelbina [Spanish]
Vinorelbine
Vinorelbine (INN)
Vinorelbine Bitartrate
Vinorelbine Ditartarate
Vinorelbine Ditartrate
Vinorelbine Tartrate
Vinorelbine [INN:BAN]
Vinorelbine ditartrate
Vinorelbine tartrate
Vinorelbinum
Vinorelbinum [Latin]
methyl (2b,3b,4b,5a,12b,19a)-4-(acetyloxy)-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
methyl (2beta,3beta,4beta,5alpha,12beta,19alpha)-4-acetoxy-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
vinorelbine
4
GemcitabinePhase 2192895058-81-460750
Synonyms:
103882-84-4
122111-03-9
2',2'-DiF-dC
2',2'-Difluoro-2'-deoxycytidine
2',2'-Difluorodeoxycytidine
2'-Deoxy-.beta.-D-2',2'-difluorocytidine
2'-Deoxy-2',2'-difluorocytidine
4-Amino-1-[(2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-Amino-1-[3,3-difluoro-4-hydroxy-5-(hydroxymethyl) tetrahydrofuran-2-yl]-1H-pyrimidin-2-one
4-amino-1-((2R,4R,5R)-3,3-Difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
4-amino-1-((2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
95058-81-4
AB1004842
AC1L1TUQ
C07650
CCRIS 8984
CHEBI:175901
CHEMBL888
CID60750
Cytidine, 2'-deoxy-2',2'-difluoro-2'-Deoxy-.beta.-D-2',2'-difluorocytidine
D02368
DB00441
DDFC
DFDC
DFdC
DFdCyd
Folfugem
GEO
Gamcitabine
GemLip
Gemcel
 
Gemcin
Gemcitabin
Gemcitabina
Gemcitabina [INN-Spanish]
Gemcitabine
Gemcitabine (USAN/INN)
Gemcitabine HCl
Gemcitabine hydrochloride
Gemcitabine stereoisomer
Gemcitabinum
Gemcitabinum [INN-Latin]
Gemtro
Gemzar
Gemzar (hydrochloride)
HMS2089P10
HSDB 7567
Inno-D07001
LS-59139
LY 188011
LY-188011
LY188011
NCGC00168784-01
NChemBio.2007.10-comp25
NSC 613327
NSC613327
TL8005979
UNII-B76N6SBZ8R
ZINC18279854
Zefei
gemcitabine
nchembio.573-comp7
nchembio.90-comp2
5
RanibizumabPhase 1, Phase 2469347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
6
CarboplatinPhase 2194241575-94-410339178, 498142, 38904
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
7
trastuzumabPhase 1751180288-69-19903
Synonyms:
180288-69-1
Anti HER2
Anti-erbB2 Monoclonal Antibody
D03257
HER2 Monoclonal Antibody
Herceptin
 
Herceptin (TN)
Ig gamma-1 chain C region
Trastuzumab
Trastuzumab (INN)
Trastuzumab (genetical recombination)
Trastuzumab (genetical recombination) (JAN)
trastuzumab
8
PaclitaxelPhase 1269133069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related MaculopathyCompletedNCT00470977Phase 1, Phase 2
2The 'MADe IT' Clinical Trial: Molecular Analyses Directed Individualized Therapy for Advanced Non-Small Cell Lung CancerCompletedNCT00215930Phase 2
3Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic LeukemiaCompletedNCT00328198Phase 2
4MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor MalignanciesCompletedNCT01235897Phase 1
5Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK MutationsRecruitingNCT01482195Phase 1
6Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.RecruitingNCT02162953
7Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
8Cell Collection to Study Eye DiseasesRecruitingNCT01432847

Search NIH Clinical Center for Vitelliform Macular Dystrophy

Genetic Tests for Vitelliform Macular Dystrophy

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Genetic tests related to Vitelliform Macular Dystrophy:

id Genetic test Affiliating Genes
1 Vitelliform Dystrophy25
2 Vitelliform Macular Dystrophy25

Anatomical Context for Vitelliform Macular Dystrophy

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MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

34
Retina, Eye, Lung, B cells, Smooth muscle

Animal Models for Vitelliform Macular Dystrophy or affiliated genes

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Publications for Vitelliform Macular Dystrophy

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Articles related to Vitelliform Macular Dystrophy:

(show top 50)    (show all 129)
idTitleAuthorsYear
1
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. (27078032)
2016
2
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. (26807628)
2016
3
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. (26155505)
2015
4
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. (25940553)
2015
5
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. (25936525)
2015
6
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. (26418331)
2015
7
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. (26447398)
2015
8
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. (24526438)
2014
9
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. (25068640)
2014
10
Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes. (25085631)
2014
11
Application of evolutionary based in silico methods to predict the impact of single amino Acid substitutions in vitelliform macular dystrophy. (24629188)
2014
12
Dome-shaped macula associated with Best vitelliform macular dystrophy. (25384969)
2014
13
Outer retinal structure in best vitelliform macular dystrophy. (23765342)
2013
14
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. (23604515)
2013
15
Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy. (21631684)
2012
16
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. (22422030)
2012
17
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. (22084158)
2012
18
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. (21273940)
2011
19
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. (21269699)
2011
20
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. (21473666)
2011
21
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. (20381869)
2010
22
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. (20497429)
2010
23
Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial. (20847757)
2010
24
Bestrophin-3 (vitelliform macular dystrophy 2-like 3 protein) is essential for the cGMP-dependent calcium-activated chloride conductance in vascular smooth muscle cells. (18776041)
2008
25
Optical coherence tomography demonstration of Best's vitelliform macular dystrophy in a child. (18050818)
2007
26
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. (17287362)
2007
27
In vivo microscopy of Best's Vitelliform Macular Dystrophy: optical coherence tomography study of combined stage III and IV lesions. (17430522)
2007
28
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. (16865191)
2006
29
A model of best vitelliform macular dystrophy in rats. (15452084)
2004
30
Treatment of cystoid macular edema with oral acetazolamide in a patient with best vitelliform macular dystrophy. (15187682)
2004
31
Morphological and functional analyses of adult onset vitelliform macular dystrophy. (12770976)
2003
32
The vitelliform macular dystrophy protein defines a new family of chloride channels. (11904445)
2002
33
Photodynamic therapy in adult-onset vitelliform macular dystrophy misdiagnosed as choroidal neovascularization. (12470159)
2002
34
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. (12324875)
2002
35
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. (11050159)
2000
36
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. (10737974)
2000
37
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. (10617923)
1999
38
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. (9445487)
1998
39
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. (9338584)
1997
40
Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. (8807324)
1996
41
Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope. (8970872)
1995-1996
42
Dark adaptation in patients with Best vitelliform macular dystrophy. (8060924)
1994
43
High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11. (7977378)
1994
44
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. (8279475)
1994
45
Best Vitelliform Macular Dystrophy (20301346)
1993
46
Histopathologic findings in Best's vitelliform macular dystrophy. (3415551)
1988
47
Best's vitelliform macular dystrophy. (3006423)
1986
48
Pseudohypopyon in Best's vitelliform macular dystrophy. (7091279)
1982
49
Vitelliform macular dystrophy of late onset. (7317335)
1981
50
Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy. (687557)
1978

Variations for Vitelliform Macular Dystrophy

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Clinvar genetic disease variations for Vitelliform Macular Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BEST1NM_004183.3(BEST1): c.422G> A (p.Arg141His)single nucleotide variantPathogenicrs121918284GRCh37Chr 11, 61723364: 61723364

Expression for genes affiliated with Vitelliform Macular Dystrophy

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Search GEO for disease gene expression data for Vitelliform Macular Dystrophy.

Pathways for genes affiliated with Vitelliform Macular Dystrophy

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Pathways related to Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0BEST1, BEST2, BEST3, BEST4

GO Terms for genes affiliated with Vitelliform Macular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:00347079.5BEST1, BEST2, BEST3, BEST4
2integral component of plasma membraneGO:00058877.7BEST1, BEST2, BEST3, BEST4, PRPH2, ROM1

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

idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transportGO:19024769.4BEST1, BEST2, BEST3, BEST4
2visual perceptionGO:00076017.7BEST1, IMPG1, IMPG2, PRPH2, ROM1

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.4BEST1, BEST2, BEST3, BEST4
2extracellular matrix structural constituentGO:00052019.3IMPG1, IMPG2

Sources for Vitelliform Macular Dystrophy

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