MCID: MCL066
MIFTS: 47

Macular Dystrophy, Vitelliform, 2 malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 2

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Aliases & Descriptions for Macular Dystrophy, Vitelliform, 2:

Name: Macular Dystrophy, Vitelliform, 2 51 69
Vitelliform Macular Dystrophy 11 25 26 38 13 67
Juvenile-Onset Vitelliform Macular Dystrophy 11 53 69 67
Best Macular Dystrophy 11 53 69 12
Best Disease 11 53 69
Early-Onset Vitelliform Macular Dystrophy 53 69
Vitelliform Macular Dystrophy Type 2 53 26
Best Vitelliform Macular Dystrophy 53 69
Bmd 53 69
 
Best Vitelliform Macular Dystrophy, Multifocal 69
Macular Degeneration, Polymorphic Vitelline 69
Polymorphic Vitelline Macular Degeneration 53
Macular Dystrophy, Vitelliform 49
Best's Macular Dystrophy 69
Vitelliform Dystrophy 25
Bvmd 53
Vmd2 69
Vmd 69

Characteristics:

Orphanet epidemiological data:

53
juvenile-onset vitelliform macular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Denmark),1-5/10000 (Sweden),1-9/100000 (Europe); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

63
macular dystrophy, vitelliform, 2:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 153700
Disease Ontology11 DOID:0050661
ICD1029 H35.5
Orphanet53 ORPHA1243
ICD10 via Orphanet30 H35.5
MeSH38 D057826

Summaries for Macular Dystrophy, Vitelliform, 2

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OMIM:51 Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of... (153700) more...

MalaCards based summary: Macular Dystrophy, Vitelliform, 2, also known as vitelliform macular dystrophy, is related to best vitelliform macular dystrophy and prph2-related adult-onset vitelliform macular dystrophy, and has symptoms including visual impairment, abnormality of the macula and abnormality of color vision. An important gene associated with Macular Dystrophy, Vitelliform, 2 is BEST1 (Bestrophin 1). Affiliated tissues include eye, retina and b cells, and related mouse phenotypes are pigmentation and vision/eye.

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.

UniProtKB/Swiss-Prot:69 Macular dystrophy, vitelliform, 2: An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg- yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.

Genetics Home Reference:25 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.

Wikipedia:70 Vitelliform macular dystrophy or vitelliform dystrophy is an irregular autosomal dominant eye disorder... more...

Related Diseases for Macular Dystrophy, Vitelliform, 2

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Diseases in the Macular Dystrophy, Vitelliform, 2 family:

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

Diseases related to Macular Dystrophy, Vitelliform, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1best vitelliform macular dystrophy12.4
2prph2-related adult-onset vitelliform macular dystrophy12.0
3macular dystrophy, vitelliform, 312.0
4becker muscular dystrophy11.9
5macular dystrophy, vitelliform, 411.9
6macular dystrophy, atypical vitelliform11.4
7macular dystrophy, vitelliform, 511.3
8duchenne muscular dystrophy11.2
9choroiditis10.5
10retinitis10.3
11macular dystrophy, patterned, 110.2PRPH2, ROM1
12fundus pulverulentus10.2PRPH2, ROM1
13bladder disease10.2BEST1, PRPH2
14macular holes10.1
15osteoporosis10.1
16branchiootorenal spectrum disorders10.1BEST1, FEN1, ROM1
17muscular dystrophy10.0
18epileptic encephalopathy, early infantile, 110.0BEST1, RS1
19osteoporotic fracture10.0
20kearns-sayre syndrome10.0
21retinal detachment10.0
22central serous chorioretinopathy10.0
23anorexia nervosa9.8
24stargardt disease 19.8ABCA4, ROM1
25x-linked infantile nystagmus9.8ABCA4, PRPH2
26methylmalonic aciduria, mut(0) type9.8BEST1, IMPG1, PRPH2
27choroidal sclerosis9.7PRPH2, RS1, TIMP3
28obesity9.7
29prader-willi syndrome9.7
30bone fracture9.7
31osteogenesis imperfecta9.7
32klinefelter's syndrome9.7
33mood disorder9.7
34cerebritis9.7
35growth hormone deficiency9.7
36refractive error9.7PRPH2, RS1, TIMP3
37senile reticular retinal degeneration9.7BEST1, PRPH2, ROM1, TIMP3
38impetigo herpetiformis9.6ABCA4, TIMP3
39gitelman syndrome9.6
40osteogenesis imperfecta, type i9.6
41testicular germ cell tumor9.6
42alcoholic liver cirrhosis9.6
43liver cirrhosis9.6
44osteoarthritis9.6
45osteochondrosis9.6
46lymphoma9.6
47lactose intolerance9.6
48premature menopause9.6
49hyperparathyroidism9.6
50acromegaly9.6

Graphical network of the top 20 diseases related to Macular Dystrophy, Vitelliform, 2:



Diseases related to macular dystrophy, vitelliform, 2

Symptoms for Macular Dystrophy, Vitelliform, 2

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Symptoms by clinical synopsis from OMIM:

153700

Clinical features from OMIM:

153700

Human phenotypes related to Macular Dystrophy, Vitelliform, 2:

 63 53 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormality of the macula63 hallmark (90%) HP:0001103
3 abnormality of color vision63 53 typical (50%) Frequent (79-30%) HP:0000551
4 visual field defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001123
5 choroideremia63 53 occasional (7.5%) Occasional (29-5%) HP:0001139
6 abnormal electroretinogram63 HP:0000512
7 reduced visual acuity63 HP:0007663
8 macular dystrophy63 HP:0007754
9 cystoid macular degeneration63 53 Very frequent (99-80%) HP:0008028
10 metamorphopsia53 Very frequent (99-80%)

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 2

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Drugs for Macular Dystrophy, Vitelliform, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GemcitabineapprovedPhase 2197495058-81-460750
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
2
alemtuzumabapproved, investigationalPhase 2303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
3
RanibizumabapprovedPhase 1, Phase 2474347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
4
CarboplatinapprovedPhase 2198041575-94-410339178, 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+)
5
Vinorelbineapproved, investigationalPhase 237171486-22-160780, 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
6
rituximabapprovedPhase 1, Phase 21654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
7
Docetaxelapproved, investigational, Approved May 1996Phase 21918114977-28-5148124, 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
8Angiogenesis InhibitorsPhase 1, Phase 24143
9Antiviral AgentsPhase 29732
10AntimetabolitesPhase 211774
11Antimetabolites, AntineoplasticPhase 27171
12Angiogenesis Modulating AgentsPhase 1, Phase 24072
13Anti-Infective AgentsPhase 221402
14Antineoplastic Agents, PhytogenicPhase 2, Phase 15420
15Antimitotic AgentsPhase 2, Phase 15498
16Immunosuppressive AgentsPhase 212770
17ImmunoglobulinsPhase 1, Phase 26045
18Antirheumatic AgentsPhase 1, Phase 210627
19AntibodiesPhase 1, Phase 26045
20
Paclitaxelapproved, vet_approvedPhase 1275833069-62-436314
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
21
Trastuzumabapproved, investigationalPhase 1766180288-69-19903
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
22Albumin-Bound PaclitaxelPhase 12757

Interventional clinical trials:

idNameStatusNCT IDPhase
1The 'MADe IT' Clinical Trial: Molecular Analyses Directed Individualized Therapy for Advanced Non-Small Cell Lung CancerCompletedNCT00215930Phase 2
2Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic LeukemiaCompletedNCT00328198Phase 2
3Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related MaculopathyCompletedNCT00470977Phase 1, Phase 2
4BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or LeukaemiaRecruitingNCT02933320Phase 1, Phase 2
5MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor MalignanciesCompletedNCT01235897Phase 1
6Trial 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
7Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.RecruitingNCT02162953
8Cell Collection to Study Eye DiseasesRecruitingNCT01432847
9Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Macular Dystrophy, Vitelliform, 2


Cochrane evidence based reviews: vitelliform macular dystrophy

Genetic Tests for Macular Dystrophy, Vitelliform, 2

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Genetic tests related to Macular Dystrophy, Vitelliform, 2:

id Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy Type 226
2 Vitelliform Macular Dystrophy26

Anatomical Context for Macular Dystrophy, Vitelliform, 2

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MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 2:

35
Eye, Retina, B cells, Lung

Animal Models for Macular Dystrophy, Vitelliform, 2 or affiliated genes

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MGI Mouse Phenotypes related to Macular Dystrophy, Vitelliform, 2:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7ABCA4, BEST1, PRPH2, RS1, TIMP3
2MP:00053917.6ABCA4, BEST1, PRPH2, ROM1, RS1, TIMP3

Publications for Macular Dystrophy, Vitelliform, 2

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Variations for Macular Dystrophy, Vitelliform, 2

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UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 2:

69 (show all 93)
id Symbol AA change Variation ID SNP ID
1BEST1p.Thr6ProVAR_000830rs28940275
2BEST1p.Val9AlaVAR_000831rs281865205
3BEST1p.Val9MetVAR_000832rs28940276
4BEST1p.Ala10ThrVAR_000833rs281865206
5BEST1p.Leu21ValVAR_000834rs281865212
6BEST1p.Trp24CysVAR_000835rs281865213
7BEST1p.Arg25GlnVAR_000836rs281865215
8BEST1p.Arg25TrpVAR_000837rs281865214
9BEST1p.Ser27ArgVAR_000838rs281865216
10BEST1p.Gln58LeuVAR_000839rs281865529
11BEST1p.Tyr85HisVAR_000841rs28940274
12BEST1p.Arg92SerVAR_000842rs281865224
13BEST1p.Trp93CysVAR_000843rs28940273
14BEST1p.Asn99LysVAR_000844rs281865227
15BEST1p.Leu100ArgVAR_000845rs281865228
16BEST1p.Asp104GluVAR_000846rs281865232
17BEST1p.Arg141HisVAR_000847rs121918284
18BEST1p.Ser209AsnVAR_000848rs281865237
19BEST1p.Arg218CysVAR_000849rs281865238
20BEST1p.Arg218GlnVAR_000850
21BEST1p.Arg218SerVAR_000851rs281865238
22BEST1p.Leu224MetVAR_000852rs281865242
23BEST1p.Tyr227AsnVAR_000854rs28941469
24BEST1p.Ser231ArgVAR_000855rs281865244
25BEST1p.Val235MetVAR_000856rs281865245
26BEST1p.Thr237ArgVAR_000857rs281865246
27BEST1p.Ala243ValVAR_000858rs28940570
28BEST1p.Pro297AlaVAR_000860rs1805143
29BEST1p.Gly299GluVAR_000861rs28941468
30BEST1p.Glu300LysVAR_000862rs281865258
31BEST1p.Asp301GluVAR_000863rs281865261
32BEST1p.Asp301AsnVAR_000864rs281865259
33BEST1p.Phe305SerVAR_000865rs281865265
34BEST1p.Ile310ThrVAR_000866rs281865271
35BEST1p.Val311GlyVAR_000867
36BEST1p.Asp312AsnVAR_000868rs281865277
37BEST1p.Ala10ValVAR_010468rs281865207
38BEST1p.Arg13HisVAR_010469rs281865209
39BEST1p.Ser16PheVAR_010470rs281865210
40BEST1p.Phe17CysVAR_010471rs281865211
41BEST1p.Ile73AsnVAR_010472
42BEST1p.Leu82ValVAR_010473rs281865530
43BEST1p.Arg92CysVAR_010474rs281865224
44BEST1p.Arg92HisVAR_010475rs281865225
45BEST1p.Gln96HisVAR_010476rs281865226
46BEST1p.Gly135SerVAR_010478rs281865234
47BEST1p.Ala146LysVAR_010479rs1800995
48BEST1p.Arg218HisVAR_010481rs281865239
49BEST1p.Val235LeuVAR_010482rs281865245
50BEST1p.Gln293LysVAR_010483rs281865250
51BEST1p.Asn296SerVAR_010484rs281865255
52BEST1p.Pro297SerVAR_010485rs1805143
53BEST1p.Glu300AspVAR_010486rs1805144
54BEST1p.Thr307IleVAR_010487rs281865269
55BEST1p.Thr6ArgVAR_017366rs281865204
56BEST1p.Asn11IleVAR_017367rs281865208
57BEST1p.Gly26ArgVAR_017368
58BEST1p.Tyr29HisVAR_017369rs281865217
59BEST1p.Lys30ArgVAR_017370rs281865218
60BEST1p.Leu41ProVAR_017371rs121918288
61BEST1p.Arg47HisVAR_017372rs28940278
62BEST1p.Phe80LeuVAR_017373rs281865221
63BEST1p.Val89AlaVAR_017374
64BEST1p.Thr91IleVAR_017375rs281865223
65BEST1p.Pro101ThrVAR_017376rs281865229
66BEST1p.Trp102ArgVAR_017377rs281865230
67BEST1p.Asp104HisVAR_017378rs281865231
68BEST1p.Asn133LysVAR_017379rs281865233
69BEST1p.Leu140ArgVAR_017380rs281865235
70BEST1p.Ala195ValVAR_017381rs200277476
71BEST1p.Phe113LeuVAR_025732
72BEST1p.Ile201ThrVAR_025733rs199529046
73BEST1p.Leu207IleVAR_025734rs74653691
74BEST1p.Cys221TrpVAR_025735rs281865240
75BEST1p.Leu224ProVAR_025737rs281865243
76BEST1p.Thr241AsnVAR_025738rs281865247
77BEST1p.Ala243ThrVAR_025739rs28940570
78BEST1p.Phe276LeuVAR_025741rs281865248
79BEST1p.Leu294ValVAR_025742rs281865251
80BEST1p.Ile295ThrVAR_025743rs281865253
81BEST1p.Asn296HisVAR_025744rs281865254
82BEST1p.Phe298SerVAR_025745rs281865257
83BEST1p.Asp302GlyVAR_025746rs281865263
84BEST1p.Asp302HisVAR_025747rs281865262
85BEST1p.Asp302ValVAR_025748rs281865263
86BEST1p.Asp303GluVAR_025749rs281865264
87BEST1p.Glu306AspVAR_025750rs281865267
88BEST1p.Glu306GlyVAR_025751rs281865266
89BEST1p.Thr307AlaVAR_025752rs281865268
90BEST1p.Asn308SerVAR_025753rs281865270
91BEST1p.Ile3ThrVAR_058273
92BEST1p.Val242MetVAR_058277
93BEST1p.Gly299AlaVAR_058313

Clinvar genetic disease variations for Macular Dystrophy, Vitelliform, 2:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1BEST1NM_004183.3(BEST1): c.172_173dupCA (p.Gln58Hisfs)duplicationPathogenicrs672601356GRCh38Chr 11, 61955126: 61955127
2BEST1NM_004183.3(BEST1): c.279G> C (p.Trp93Cys)SNVPathogenicrs28940273GRCh37Chr 11, 61723221: 61723221
3BEST1NM_004183.3(BEST1): c.253T> C (p.Tyr85His)SNVPathogenicrs28940274GRCh37Chr 11, 61723195: 61723195
4BEST1NM_004183.3(BEST1): c.896G> A (p.Gly299Glu)SNVPathogenicrs28941468GRCh37Chr 11, 61726998: 61726998
5BEST1NM_004183.3(BEST1): c.87C> G (p.Tyr29Ter)SNVPathogenicrs121918285GRCh37Chr 11, 61719365: 61719365
6BEST1NM_004183.3(BEST1): c.679T> A (p.Tyr227Asn)SNVPathogenicrs28941469GRCh37Chr 11, 61724901: 61724901
7BEST1NM_004183.3(BEST1): c.16A> C (p.Thr6Pro)SNVPathogenicrs28940275GRCh37Chr 11, 61719294: 61719294
8BEST1NM_004183.3(BEST1): c.884_886delTCA (p.Ile295del)deletionPathogenicrs121918283GRCh37Chr 11, 61726986: 61726988
9BEST1NM_004183.3(BEST1): c.25G> A (p.Val9Met)SNVPathogenicrs28940276GRCh37Chr 11, 61719303: 61719303
10BEST1NM_004183.3(BEST1): c.355G> C (p.Glu119Gln)SNVPathogenicrs1805142GRCh37Chr 11, 61723297: 61723297
11BEST1NM_004183.3(BEST1): c.436_437delGCinsAA (p.Ala146Lys)indelPathogenicrs1800995GRCh37Chr 11, 61723378: 61723379
12BEST1NM_004183.3(BEST1): c.728C> T (p.Ala243Val)SNVPathogenicrs28940570GRCh37Chr 11, 61725631: 61725631
13BEST1NM_004183.3(BEST1): c.140G> A (p.Arg47His)SNVPathogenicrs28940278GRCh37Chr 11, 61719418: 61719418
14BEST1NM_004183.3(BEST1): c.1470_1471delCA (p.His490Glnfs)deletionPathogenicrs281865528GRCh37Chr 11, 61730096: 61730097
15BEST1NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys)SNVPathogenicrs267606677GRCh37Chr 11, 61724902: 61724902
16BEST1NM_004183.3(BEST1): c.652C> T (p.Arg218Cys)SNVLikely pathogenicrs281865238GRCh37Chr 11, 61724874: 61724874

Expression for genes affiliated with Macular Dystrophy, Vitelliform, 2

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Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 2.

Pathways for genes affiliated with Macular Dystrophy, Vitelliform, 2

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GO Terms for genes affiliated with Macular Dystrophy, Vitelliform, 2

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Cellular components related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.2ABCA4, PRPH2

Biological processes related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:00071559.2PRPH2, ROM1, RS1
2visual perceptionGO:00076017.0ABCA4, BEST1, IMPG1, PRPH2, ROM1, RS1

Sources for Macular Dystrophy, Vitelliform, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet