MCID: STR022
MIFTS: 46

Stargardt Disease malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Stargardt Disease

About this section
Sources:
10Disease Ontology, 65UMLS, 51Orphanet, 33MalaCards, 32LifeMap Discovery®, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Stargardt Disease:

Name: Stargardt Disease 33 32 10 45 22 12 51
Stargardt Disease 1 10 65
Stargardts Disease 47 24
Juvenile Onset Macular Degeneration 45
 
Stargardt Macular Dystrophy 45
Fundus Flavimaculatus 51
Stargardt Disease-1 33
Stargardt 1 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
stargardt disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0050817
Orphanet51 827
ICD10 via Orphanet28 H35.5
UMLS via Orphanet66 C0271093

Summaries for Stargardt Disease

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NIH Rare Diseases:45 Stargardt disease is a genetic eye disorder that causes progressive vision loss. this disorder affects the macula, an area of the retina responsible for sharp central vision (needed for detailed tasks such as reading, driving, and recognizing faces). individuals with the condition have abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells underlying the macula, which causes central vision loss. people with stargardt disease also have problems with night vision and some people may have problems with color vision. the signs and symptoms of stargardt disease typically appear in late childhood to early adulthood and worsen over time. it is usually caused by mutations in the abca4 gene and inherited in an autosomal recessive manner, but it can also be caused by mutations in the elovl4 gene and inherited in an autosomal dominant manner. last updated: 2/26/2011

MalaCards based summary: Stargardt Disease, also known as stargardt disease 1, is related to stargardt disease 1 and macular degeneration, age-related, 1. An important gene associated with Stargardt Disease is ABCA4 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 4), and among its related pathways are Visual phototransduction and the visual cycle I (vertebrates). Affiliated tissues include eye, retina and testes, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:10 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Related Diseases for Stargardt Disease

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Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 4
Stargardt Disease 3 Stargardt Disease, Autosomal Recessive
Abca4-Related Stargardt Disease 1 Cngb3-Related Stargardt Disease 1

Diseases related to Stargardt Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1stargardt disease 131.0ABCA4, CNGB3, LRAT
2macular degeneration, age-related, 129.2ABCA4, ABCG4, CRB1, CRX, ELOVL4, PROM1
3retinitis10.8
4stargardt disease 410.6
5retinitis pigmentosa10.5
6multifocal pattern dystrophy simulating fundus flavimaculatus10.5
7stargardt disease 310.5
8macular degeneration, age-related, 1510.4
9choroiditis10.4
10retinal degeneration10.4
11stargardt macular degeneration10.4
12steroid 5-alpha-reductase deficiency10.3ABCA4, CNGB3
13macular degeneration, age-related, 410.3
14cone-rod dystrophy10.3
15spiradenoma10.3
16eye degenerative disease10.3
17eye disease10.3
18fundus dystrophy10.3
19globe disease10.3
20retinal disease10.3
21stargardt disease, autosomal recessive10.3
22abca4-related stargardt disease 110.3
23corneal dystrophy, fuchs endothelial, 110.3
24porphyria, acute hepatic10.3
25macular corneal dystrophy10.3
26macular degeneration, age-related, 910.3
27degenerative disc disease10.3
28autosomal dominant disease10.3
29cerebral degeneration10.3
30corneal degeneration10.3
31corneal disease10.3
32corneal dystrophy10.3
33exanthem10.3
34lens disease10.3
35nutritional deficiency disease10.3
36pupil disease10.3
37ethylene glycol poisoning10.3
38methanol poisoning10.3
39primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency10.3CNGB3, GNAT2
40macular degeneration, age-related, 1210.2
41cngb3-related stargardt disease 110.2
42jalili syndrome10.2CNGB3, GNAT2
43pediatric fibrosarcoma10.2CNGB3, GNAT2
44muscular dystrophy-dystroglycanopathy , type a, 510.2CRX, RPGR
45ichthyosis - intellectual disability - dwarfism - renal impairment10.2ELOVL4, RIMS1
46juvenile dermatitis herpetiformis10.2CRB1, RHO
47acquired color blindness10.2CNGB3, RHO
48retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness10.2ABCA4, RPGR
49hepatocellular carcinoma10.2
50cole disease10.2

Graphical network of the top 20 diseases related to Stargardt Disease:



Diseases related to stargardt disease

Symptoms for Stargardt Disease

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Drugs & Therapeutics for Stargardt Disease

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Drugs for Stargardt Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Aapproved, nutraceuticalPhase 2, Phase 138611103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
2
acetic acidapproved, NutraceuticalPhase 2, Phase 18064-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic Acid
Acetic acid, ion(1-)
Azetat
Borofair
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
Vosol
3Retinol palmitatePhase 2, Phase 1386
4
Retinol acetatePhase 2, Phase 177127-47-910245972
Synonyms:
13-cis-Retinyl acetate
Acetateall-trans-Retinol
Acetic acid, retinyl ester
All-trans-Retinyl acetate
All-trans-retinol acetate
All-trans-retinyl acetate
All-trans-retinylacetate
All-trans-vitamin a acetate
Crystalets
Davitan A 650
Myvak (van)
Myvax (van)
O(15)-Acetylretinol
O~15~-Acetyl-retinol
O~15~-Acetylretinol
 
RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)
Retinol acetate
Retinol acetate (JP15)
Retinol, acetate
Retinol, acetate, all-trans- (8CI)
Retinol, acetate, labeled with tritium
Retinyl acetate
Trans-retinyl acetate
Trans-vitamin a acetate
Vitamin A acetate
Vitamin A1 acetate
Vitamin a acetate (tritiated)
Vitamin a acetate (van)
Vitamin a alcohol acetate
Vitamin a ester
Vitamin a, acetate
5retinolNutraceuticalPhase 2, Phase 1386
6
FomepizoleapprovedPhase 137554-65-63406
Synonyms:
222569_ALDRICH
4-Methyl-1H-pyrazole
4-Methylpyrazol
4-Methylpyrazole
4-methylpyrazole
4-methylpyrazole monohydrochloride
5-23-05-00031 (Beilstein Handbook Reference)
7554-65-6
AC-4833
AC1L1FV5
AC1Q2OK9
AC1Q2OKA
AKOS000265586
Antizol
Antizol (TN)
BRN 0105204
C010238
C07837
C4H6N2
CHEBI:5141
CHEMBL1308
CID3406
CPD0-1652
D00707
DB01213
EINECS 231-445-0
 
Fomepizol
Fomepizol [INN-Spanish]
Fomepizole
Fomepizole (USAN/INN)
Fomepizole [USAN:INN]
Fomepizolum
Fomepizolum [INN-Latin]
I11-0350
LS-128524
Lopac-M-1387
Lopac0_000723
M0774
MLS001335923
MLS002153469
NCGC00015646-01
NCGC00015646-03
NCGC00162231-01
Orphan brand of fomepizole
Paladin brand of fomepizole
S14-0570
SBB004402
SMR000059088
SMR000326764
STK256626
TL8005172
UNII-83LCM6L2BY
ZINC00897288
fomepizole
7Omega 3 Fatty AcidNutraceuticalPhase 1890
8
Hydroxychloroquineapproved128118-42-33652
Synonyms:
(+-)-Hydroxychloroquine
(±)-hydroxychloroquine
118-42-3
2-((4-((7-Chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol
2-((4-((7-chloro-4-Quinolyl)amino)pentyl)ethylamino)ethanol
2-(N-(4-(7-Chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol
2-[4-[(7-chloroquinolin-4-yl)amino]pentyl-ethylamino]ethanol
2-[{4-[(7-chloroquinolin-4-yl)amino]pentyl}(ethyl)amino]ethanol
5-22-10-00280 (Beilstein Handbook Reference)
7-Chloro-4-(4-(N-ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-Chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-Chloro-4-(5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl)aminoquinoline
7-chloro-4-(4-(Ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-chloro-4-(4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-chloro-4-[4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino]quinoline
7-chloro-4-[5-(N-Ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline
747-36-4 (sulfate (1:1) salt)
AC1L1GEW
BRN 0253894
C07043
C18H26ClN3O
CHEMBL1535
CID3652
D08050
DB01611
DivK1c_000942
EINECS 204-249-8
Gen-Hydroxychloroquine 200mg Tablets
HCQ
HMS502P04
Hidroxicloroquina
Hidroxicloroquina [INN-Spanish]
Hydroxychlorochin
 
Hydroxychloroguine
Hydroxychloroquine (INN)
Hydroxychloroquine Sulfate
Hydroxychloroquine Sulfate (1:1) Salt
Hydroxychloroquine [INN:BAN]
Hydroxychloroquine sulfate
Hydroxychloroquinum
Hydroxychloroquinum [INN-Latin]
IDI1_000942
Idrossiclorochina
Idrossiclorochina [DCIT]
KBio1_000942
LS-66614
MolPort-003-847-792
NCGC00159483-02
NINDS_000942
NSC4375
Oxichlorochine
Oxichlorochinum
Oxichloroquine
Oxychlorochin
Oxychloroquine
PlaqueN/A
Plaquenil
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Phase 2 Tolerability and Effects of ALK-001 on Stargardt DiseaseRecruitingNCT02402660Phase 2
2Phase I/IIa Study of SAR422459 in Patients With Stargardt's Macular DegenerationRecruitingNCT01367444Phase 1, Phase 2
3Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular DystrophyActive, not recruitingNCT01345006Phase 1, Phase 2
4Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD)Active, not recruitingNCT01469832Phase 1, Phase 2
5Saffron Supplementation in Stargardt's DiseaseActive, not recruitingNCT01278277Phase 1, Phase 2
6A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular DegenerationEnrolling by invitationNCT01736592Phase 1, Phase 2
7Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular DystrophyCompletedNCT00060749Phase 1
8Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular DystrophyCompletedNCT00346853Phase 1
9Phase 1 Safety Study of ALK-001 in Healthy VolunteersCompletedNCT02230228Phase 1
10Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD)Active, not recruitingNCT01625559Phase 1
11Microcurrent Stimulation to Treat Macular DegenerationCompletedNCT01790958
12Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt DiseaseRecruitingNCT01676766
13The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular DystrophyRecruitingNCT02410122
14Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 GeneRecruitingNCT01145196
15Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
16Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
17Natural History of Eye Diseases Related to ABCA4 MutationsRecruitingNCT01736293
18High Resolution Retinal ImagingRecruitingNCT01866371
19A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective StudiesActive, not recruitingNCT01977846
20DHA Supplementation in Patients With STGD3Active, not recruitingNCT00420602
21Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy PatientsEnrolling by invitationNCT02445612
22Rod and Cone Mediated Function in Retinal DiseaseNot yet recruitingNCT02617966

Search NIH Clinical Center for Stargardt Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Stargardt Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Stargardt Disease:
MA09-hRPE, embryonic retinal pigmented epithelial cells for degenerative macular diseases
Embryonic/Adult Cultured Cells Related to Stargardt Disease:
Mature retinal pigmented epithelium cells, PMIDs: 19521979, 22281388

Genetic Tests for Stargardt Disease

About this section

Genetic tests related to Stargardt Disease:

id Genetic test Affiliating Genes
1 Stargardt Disease22
2 Stargardt's Disease24

Anatomical Context for Stargardt Disease

About this section

MalaCards organs/tissues related to Stargardt Disease:

33
Eye, Retina, Testes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Stargardt Disease:
id TissueAnatomical CompartmentCell Relevance
1 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Animal Models for Stargardt Disease or affiliated genes

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MGI Mouse Phenotypes related to Stargardt Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.3ABCA4, CRB1, CRX, ELOVL4, PROM1, PRPH2
2MP:00053916.6ABCA4, CNGB3, CRB1, CRX, ELOVL4, GNAT2
3MP:00036316.4ABCA4, CNGB3, CRB1, CRX, ELOVL4, GNAT2

Publications for Stargardt Disease

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Articles related to Stargardt Disease:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? (26427432)
2016
2
Estimation of depression prevalence in patients with Stargardt disease using PHQ-9 and Zung scores. (26541115)
2015
3
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. (25922843)
2015
4
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. (25837607)
2015
5
Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease. (26310168)
2015
6
Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography. (26314663)
2015
7
Cone and Rod Loss in Stargardt Disease Revealed by Adaptive Optics Scanning Light Ophthalmoscopy. (26247787)
2015
8
Dark-adapted visual function with retinal structural changes in patients with Stargardt disease. (25611879)
2015
9
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
10
Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. (24428930)
2014
11
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing. (24763286)
2014
12
Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations. (25265374)
2014
13
Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease. (24585425)
2014
14
Correlations Amongst Near-Infrared and Short-Wavelength Autofluorescence and Spectral Domain Optical Coherence Tomography in Recessive Stargardt Disease. (25342616)
2014
15
Analysis of the ABCA4 genomic locus in Stargardt disease. (25082829)
2014
16
ASSOCIATION OF DARK-ADAPTED VISUAL FUNCTION WITH RETINAL STRUCTURAL CHANGES IN PATIENTS WITH STARGARDT DISEASE. (24280667)
2013
17
Fine central macular dots associated with childhood-onset Stargardt Disease. (24020726)
2013
18
THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE. (24317291)
2013
19
A longitudinal study of stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. (24265018)
2013
20
Biofeedback rehabilitation of eccentric fixation in patients with Stargardt disease. (23640508)
2013
21
Stargardt disease caused by a rare combination of double homozygous mutations. (24509150)
2013
22
Stargardt disease: towards developing a model to predict phenotype. (23695285)
2013
23
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. (23953153)
2013
24
Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients. (24342785)
2013
25
Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. (24319520)
2012
26
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. (22661472)
2012
27
Progression of retinal pigment epithelial atrophy in stargardt disease. (22464366)
2012
28
Fundus autofluorescence patterns in stargardt disease over time-reply. (23753838)
2012
29
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). (22076985)
2011
30
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease. (20398653)
2010
31
DHA supplementation for late onset Stargardt disease: NAT-3 study. (20668719)
2010
32
Test-retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease. (20021256)
2010
33
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (20108396)
2010
34
Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease. (20876139)
2010
35
Educational levels in patients with stargardt disease. (20688312)
2010
36
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (19265867)
2010
37
Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD). (21297895)
2008
38
Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives. (18326749)
2008
39
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. (17297691)
2006
40
Gene symbol: ABCA4. Disease: Stargardt disease 1. (17128450)
2006
41
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease. (15161829)
2004
42
Stargardt disease in a patient with retinoblastoma. (14609928)
2003
43
ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. (12202497)
2002
44
ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease. (10736747)
2000
45
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. (10874631)
1999
46
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. (9503029)
1998
47
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. (9843201)
1998
48
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). (8884286)
1996
49
Genetic fine mapping of the gene for recessive Stargardt disease. (8792830)
1996
50
Fixation patterns and reading rates in eyes with central scotomas from advanced atrophic age-related macular degeneration and Stargardt disease. (8841306)
1996

Variations for Stargardt Disease

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Clinvar genetic disease variations for Stargardt Disease:

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.2798A> T (p.Asn933Ile)single nucleotide variantPathogenicrs527236129GRCh37Chr 1, 94512595: 94512595
2ABCA4NM_000350.2(ABCA4): c.4429C> T (p.Gln1477Ter)single nucleotide variantPathogenicrs794727531GRCh37Chr 1, 94495111: 94495111
3ABCA4NM_000350.2(ABCA4): c.880C> T (p.Gln294Ter)single nucleotide variantPathogenicrs794727903GRCh37Chr 1, 94546253: 94546253
4ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
5CNGB3NM_019098.4(CNGB3): c.1193A> G (p.Tyr398Cys)single nucleotide variantPathogenicrs564759960GRCh38Chr 8, 86632879: 86632879
6ABCA4ABCA4, TRP821ARGundetermined variantPathogenic
7ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)single nucleotide variantPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
8ELOVL4ELOVL4, 5-BP DEL, NT797deletionPathogenic
9ELOVL4NM_022726.3(ELOVL4): c.789_793delTAACTinsAAC (p.Asn264Thrfs)indelPathogenicrs587776613GRCh37Chr 6, 80626477: 80626481
10ELOVL4NM_022726.3(ELOVL4): c.810C> G (p.Tyr270Ter)single nucleotide variantPathogenicrs104893946GRCh37Chr 6, 80626460: 80626460
11CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
12CNGB3NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp)single nucleotide variantPathogenicrs35365413GRCh37Chr 8, 87641222: 87641222
13ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
14ABCA4NM_000350.2(ABCA4): c.2791G> A (p.Val931Met)single nucleotide variantPathogenicrs58331765GRCh37Chr 1, 94512602: 94512602
15ABCA4NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val)single nucleotide variantPathogenicrs121909204GRCh37Chr 1, 94508999: 94508999
16ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)single nucleotide variantPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
17ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)single nucleotide variantPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
18ABCA4NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu)single nucleotide variantPathogenicrs41292677GRCh37Chr 1, 94467548: 94467548
19ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
20ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508434: 94508435
21ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantPathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
22ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
23ABCA4ABCA4, IVS13AS, G-A, -1single nucleotide variantPathogenic
24ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
25ABCA4ABCA4, IVS5AS, A-G, -2single nucleotide variantPathogenic
26ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
27ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
28ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
29ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
30ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
31ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
32ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
33ABCA4NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala)single nucleotide variantPathogenicrs121909207GRCh37Chr 1, 94480221: 94480221
34ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantPathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
35ABCA4NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys)single nucleotide variantPathogenicrs61750120GRCh37Chr 1, 94508323: 94508323
36ABCA4NM_000350.2(ABCA4): c.4540-2A> Gsingle nucleotide variantPathogenicrs61752435GRCh37Chr 1, 94490606: 94490606
37ABCA4NM_000350.2(ABCA4): c.67-2A> Gsingle nucleotide variantPathogenicrs398123339GRCh37Chr 1, 94578624: 94578624
38ABCA4NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs61748550GRCh37Chr 1, 94544895: 94544895
39ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
40ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
41ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)single nucleotide variantPathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
42ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)single nucleotide variantPathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
43ABCA4NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr)single nucleotide variantPathogenicrs61751402GRCh37Chr 1, 94495071: 94495071
44ABCA4NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met)single nucleotide variantPathogenicrs61750152GRCh37Chr 1, 94490567: 94490567
45ABCA4NM_000350.2(ABCA4): c.4594G> A (p.Asp1532Asn)single nucleotide variantPathogenicrs62642574GRCh37Chr 1, 94490550: 94490550
46ABCA4NM_000350.2(ABCA4): c.6089G> A (p.Arg2030Gln)single nucleotide variantPathogenicrs61750641GRCh37Chr 1, 94471055: 94471055
47ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)single nucleotide variantPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426

Expression for genes affiliated with Stargardt Disease

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Search GEO for disease gene expression data for Stargardt Disease.

Pathways for genes affiliated with Stargardt Disease

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GO Terms for genes affiliated with Stargardt Disease

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Cellular components related to Stargardt Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:009738110.1ABCA4, RHO
2photoreceptor outer segment membraneGO:00426229.7GNAT2, PROM1, RHO
3photoreceptor outer segmentGO:00017508.4ABCA4, CNGB3, GNAT2, PROM1, PRPH2, RHO

Biological processes related to Stargardt Disease according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cellular response to light stimulusGO:007148210.4RHO, RPGR
2eye photoreceptor cell developmentGO:004246210.4CRB1, RPGR
3detection of light stimulus involved in visual perceptionGO:005090810.4GNAT2, RPE65
4phototransductionGO:000760210.3GNAT2, RHO
5vitamin A metabolic processGO:000677610.2LRAT, RPE65
6cholesterol effluxGO:003334410.2ABCA4, ABCG4
7retina morphogenesis in camera-type eyeGO:006004210.2PROM1, RPE65, RPGR
8photoreceptor cell maintenanceGO:00454949.9ABCA4, PROM1, RHO
9retinol metabolic processGO:00425729.7LRAT, RPE65
10retina development in camera-type eyeGO:00600419.6CRX, PRPH2, RHO, RPE65
11response to stimulusGO:00508969.5CRX, PDE6H, RIMS1
12retina layer formationGO:00108429.5PROM1, RS1
13retinoid metabolic processGO:00015239.3ABCA4, LRAT, RHO, RPE65
14phototransduction, visible lightGO:00076039.2ABCA4, LRAT, RHO, RPE65
15visual perceptionGO:00076016.5ABCA4, CNGB3, CRX, GNAT2, LRAT, PDE6H

Molecular functions related to Stargardt Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:000802010.4ELOVL4, GNAT2
2cGMP bindingGO:00305539.9CNGB3, PDE6H
3cholesterol transporter activityGO:00171279.8ABCA4, ABCG4
4phosphatidylserine bindingGO:00017869.7RPE65, RS1

Sources for Stargardt Disease

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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