MCID: STR022
MIFTS: 52

Stargardt Disease malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease

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

Aliases & Descriptions for Stargardt Disease:

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

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

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:0050817
Orphanet51 827
ICD10 via Orphanet28 H35.5
UMLS via Orphanet66 C0271093
UMLS65 C1855465

Summaries for Stargardt Disease

About this section
NIH Rare Diseases:45 Stargardt disease is a genetic eye disorder that causes progressive vision loss. it affects the macula, an area of the retina responsible for sharp, central vision. vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. people with stargardt disease also have problems with night vision, and some 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 most commonly caused by mutations in the abca4 gene and inherited in an autosomal recessive manner. rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. there is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence. last updated: 3/7/2016

MalaCards based summary: Stargardt Disease, also known as stargardt disease 1, is related to stargardt disease 1 and stargardt disease 4. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways are Metabolism of fat-soluble vitamins and the visual cycle I (vertebrates). Affiliated tissues include eye, retina and prostate, and related mouse phenotypes are pigmentation and nervous system.

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

Wikipedia:68 Stargardt disease, or fundus flavimaculatus, is an inherited form of juvenile macular degeneration that... more...

Related Diseases for Stargardt Disease

About this section

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1stargardt disease 133.8ABCA4, CNGB3, LRAT
2stargardt disease 412.2
3stargardt disease 312.2
4stargardt disease, autosomal recessive12.0
5abca4-related stargardt disease 111.9
6cngb3-related stargardt disease 111.9
7stargardt macular degeneration11.1
8multifocal pattern dystrophy simulating fundus flavimaculatus10.9
9steroid 5-alpha-reductase deficiency10.7ABCA4, CNGB3
10primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency10.7CNGB3, GNAT2
11jalili syndrome10.6CNGB3, GNAT2
12retinitis10.6
13muscular dystrophy-dystroglycanopathy , type a, 510.5CRX, RPGR
14acquired color blindness10.5CNGB3, RHO
15fundus dystrophy10.5CRB1, RHO
16proximal myopathy and ophthalmoplegia10.5CNGB3, GNAT2, RPGR
17nephrosclerosis10.4CNGB3, RHO
18mental retardation, autosomal recessive 3010.4PRPH2, RIMS1
19rpe65-related retinitis pigmentosa10.4CRX, RPE65
20pseudoretinitis pigmentosa10.4PRPH2, RPGR
21tuberculous peritonitis10.4PRPH2, RIMS1
22natural killer cell and glucocorticoid deficiency with dna repair defect10.3PRPH2, RHO
23retinitis pigmentosa10.3
24methylmalonic aciduria, mut(0) type10.3IMPG1, PRPH2
25alk-positive large b-cell lymphoma10.3LRAT, RPE65
26retina lymphoma10.2CRB1, RS1
27choroiditis10.2
28colorblindness, deutan10.2CNGB3, RHO
29cone-rod dystrophy10.1
30combined oxidative phosphorylation deficiency 310.1PRPH2, RHO, RPE65
31neuroaspergillosis10.1CRB1, RS1
32red color blindness10.1ABCA4, CNGB3, RHO, RPE65
33retinal disease10.0
34fetal alcohol syndrome10.0IMPG1, PRPH2
35connective tissue cancer10.0ABCA4, ELOVL4, RHO, RPE65
36spondyloepiphyseal dysplasia tarda10.0CNGB3, RS1
37rheumatic congestive heart failure10.0CNGB3, RHO, RS1
38andersen syndrome10.0ABCA4, CRB1, CRX, PROM1, PRPH2
39retinal degeneration9.9
40scotoma9.9
41vaginal glandular tumor9.9CNGB3, GNAT2, PDE6H
42achalasia microcephaly syndrome9.9CNGB3, PDE6H, RPGR
43kallmann syndrome9.9PRPH2, RHO, RPE65, RPGR
44occult macular dystrophy9.8
45retinoblastoma9.8
46choroideremia9.8
47leber congenital amaurosis9.8
48congenital stationary night blindness9.8
49macular holes9.8
50night blindness9.8

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



Diseases related to stargardt disease

Symptoms for Stargardt Disease

About this section

Drugs & Therapeutics for Stargardt Disease

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
acetic acidapproved, NutraceuticalPhase 2, Phase 18964-19-7176
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
2
Vitamin Aapproved, nutraceuticalPhase 2, Phase 141311103-57-4, 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
3
Retinol acetatePhase 2, Phase 185127-47-910245972
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
4VitaminsPhase 2, Phase 13857
5Retinol palmitatePhase 2, Phase 1413
6retinolNutraceuticalPhase 2, Phase 1413
7
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
8Protective AgentsPhase 15651
9Omega 3 Fatty AcidNutraceuticalPhase 1912
10
Hydroxychloroquineapproved136118-42-33652
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 23)
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
10Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration DiseasesRecruitingNCT02749734Phase 1
11Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD)Active, not recruitingNCT01625559Phase 1
12Microcurrent Stimulation to Treat Macular DegenerationCompletedNCT01790958
13Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt DiseaseRecruitingNCT01676766
14Rod and Cone Mediated Function in Retinal DiseaseRecruitingNCT02617966
15Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 GeneRecruitingNCT01145196
16Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
17Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
18Natural History of Eye Diseases Related to ABCA4 MutationsRecruitingNCT01736293
19High Resolution Retinal ImagingRecruitingNCT01866371
20A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective StudiesActive, not recruitingNCT01977846
21The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular DystrophyActive, not recruitingNCT02410122
22DHA Supplementation in Patients With STGD3Active, not recruitingNCT00420602
23Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy PatientsEnrolling by invitationNCT02445612

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

Anatomical Context for Stargardt Disease

About this section

MalaCards organs/tissues related to Stargardt Disease:

33
Eye, Retina, Prostate, Tongue, B cells, Testis, Placenta

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

About this section

MGI Mouse Phenotypes related to Stargardt Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011867.3ABCA4, CRB1, CRX, ELOVL4, PROM1, PRPH2
2MP:00036316.4ABCA4, CNGB3, CRB1, CRX, ELOVL4, GNAT2
3MP:00053915.9ABCA4, CNGB3, CRB1, CRX, ELOVL4, GNAT2

Publications for Stargardt Disease

About this section

Articles related to Stargardt Disease:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. (27030965)
2016
2
En face OCT in Stargardt disease. (26743751)
2016
3
Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? (26427432)
2016
4
Estimation of depression prevalence in patients with Stargardt disease using PHQ-9 and Zung scores. (26541115)
2015
5
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. (25922843)
2015
6
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. (25837607)
2015
7
Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease. (26310168)
2015
8
Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography. (26314663)
2015
9
Cone and Rod Loss in Stargardt Disease Revealed by Adaptive Optics Scanning Light Ophthalmoscopy. (26247787)
2015
10
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
11
Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. (24428930)
2014
12
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing. (24763286)
2014
13
Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations. (25265374)
2014
14
Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease. (24585425)
2014
15
The molecular genetic and clinical findings in two probands with Stargardt disease]. (25640233)
2014
16
Correlations Amongst Near-Infrared and Short-Wavelength Autofluorescence and Spectral Domain Optical Coherence Tomography in Recessive Stargardt Disease. (25342616)
2014
17
ASSOCIATION OF DARK-ADAPTED VISUAL FUNCTION WITH RETINAL STRUCTURAL CHANGES IN PATIENTS WITH STARGARDT DISEASE. (24280667)
2013
18
Fine central macular dots associated with childhood-onset Stargardt Disease. (24020726)
2013
19
THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE. (24317291)
2013
20
A longitudinal study of stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. (24265018)
2013
21
Biofeedback rehabilitation of eccentric fixation in patients with Stargardt disease. (23640508)
2013
22
Stargardt disease caused by a rare combination of double homozygous mutations. (24509150)
2013
23
Stargardt disease: towards developing a model to predict phenotype. (23695285)
2013
24
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. (23953153)
2013
25
Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients. (24342785)
2013
26
Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. (24319520)
2012
27
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. (22661472)
2012
28
Progression of retinal pigment epithelial atrophy in stargardt disease. (22464366)
2012
29
Fundus autofluorescence patterns in stargardt disease over time-reply. (23753838)
2012
30
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). (22076985)
2011
31
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease. (20398653)
2010
32
DHA supplementation for late onset Stargardt disease: NAT-3 study. (20668719)
2010
33
Test-retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease. (20021256)
2010
34
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (20108396)
2010
35
Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease. (20876139)
2010
36
Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD). (21297895)
2008
37
Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives. (18326749)
2008
38
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. (17297691)
2006
39
Gene symbol: ABCA4. Disease: Stargardt disease 1. (17128450)
2006
40
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease. (15161829)
2004
41
Stargardt disease in a patient with retinoblastoma. (14609928)
2003
42
ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. (12202497)
2002
43
ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease. (10736747)
2000
44
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
45
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. (9503029)
1998
46
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. (9843201)
1998
47
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
48
Genetic fine mapping of the gene for recessive Stargardt disease. (8792830)
1996
49
Fixation patterns and reading rates in eyes with central scotomas from advanced atrophic age-related macular degeneration and Stargardt disease. (8841306)
1996
50

Variations for Stargardt Disease

About this section

Clinvar genetic disease variations for Stargardt Disease:

5 (show all 36)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.880C> T (p.Gln294Ter)single nucleotide variantPathogenicrs794727903GRCh37Chr 1, 94546253: 94546253
2ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
3ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)single nucleotide variantPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
4CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
5ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
6ABCA4NM_000350.2(ABCA4): c.2791G> A (p.Val931Met)single nucleotide variantPathogenicrs58331765GRCh37Chr 1, 94512602: 94512602
7ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)single nucleotide variantPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
8ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)single nucleotide variantPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
9ABCA4NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu)single nucleotide variantPathogenicrs41292677GRCh37Chr 1, 94467548: 94467548
10ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
11ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508434: 94508435
12ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantPathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
13ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
14ABCA4ABCA4, IVS13AS, G-A, -1single nucleotide variantPathogenic
15ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
16ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
17ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
18ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
19ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
20ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
21ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
22ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
23ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantPathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
24ABCA4NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys)single nucleotide variantPathogenicrs61750120GRCh37Chr 1, 94508323: 94508323
25ABCA4NM_000350.2(ABCA4): c.4540-2A> Gsingle nucleotide variantPathogenicrs61752435GRCh37Chr 1, 94490606: 94490606
26ABCA4NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs61748550GRCh37Chr 1, 94544895: 94544895
27ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
28ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
29ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)single nucleotide variantPathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
30ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)single nucleotide variantPathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
31ABCA4NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr)single nucleotide variantPathogenicrs61751402GRCh37Chr 1, 94495071: 94495071
32ABCA4NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met)single nucleotide variantLikely pathogenic, Pathogenicrs61750152GRCh37Chr 1, 94490567: 94490567
33ABCA4NM_000350.2(ABCA4): c.4594G> A (p.Asp1532Asn)single nucleotide variantPathogenicrs62642574GRCh37Chr 1, 94490550: 94490550
34ABCA4NM_000350.2(ABCA4): c.5714+5G> Asingle nucleotide variantPathogenicrs61751407GRCh37Chr 1, 94476351: 94476351
35ABCA4NM_000350.2(ABCA4): c.6089G> A (p.Arg2030Gln)single nucleotide variantPathogenicrs61750641GRCh37Chr 1, 94471055: 94471055
36ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)single nucleotide variantPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426

Expression for genes affiliated with Stargardt Disease

About this section
Search GEO for disease gene expression data for Stargardt Disease.

Pathways for genes affiliated with Stargardt Disease

About this section

GO Terms for genes affiliated with Stargardt Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:00057949.9RHO, RPGR

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

idNameGO IDScoreTop Affiliating Genes
1retinol metabolic processGO:004257210.2LRAT, RPE65
2photoreceptor cell maintenanceGO:004549410.2PROM1, RHO
3response to light stimulusGO:000941610.0RHO, RPE65
4visual perceptionGO:00076019.2GNAT2, LRAT, PRPH2, RPE65

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylserine bindingGO:00017869.7RPE65, RS1

Sources for Stargardt Disease

About this section
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