MCID: STR022
MIFTS: 48

Stargardt Disease malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease

About this section
Sources:
11Disease Ontology, 66UMLS, 52Orphanet, 34MalaCards, 33LifeMap Discovery®, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Stargardt Disease:

Name: Stargardt Disease 34 33 11 46 23 13 52
Stargardt Disease 1 11 66
Juvenile Onset Macular Degeneration 46
Stargardt Macular Dystrophy 46
 
Fundus Flavimaculatus 52
Stargardt Disease-1 34
Stargardt 1 52

Characteristics:

Orphanet epidemiological data:

52
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: 52 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:0050817
Orphanet52 ORPHA827
ICD10 via Orphanet29 H35.5
UMLS via Orphanet67 C0271093

Summaries for Stargardt Disease

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NIH Rare Diseases:46 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 Phototransduction and Vitamin A and carotenoid metabolism. Affiliated tissues include eye, retina and testes, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:11 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Wikipedia:69 Stargardt disease, or fundus flavimaculatus, is an inherited form of juvenile macular degeneration that... more...

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1stargardt disease 134.1ABCA4, 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
9stt3a-cdg10.8ABCA4, CNGB3
10tropical endomyocardial fibrosis10.7CNGB3, GNAT2
11arthrogryposis, distal, type 2a10.6CNGB3, GNAT2
12jalili syndrome10.6CNGB3, GNAT2
13mental retardation, autosomal recessive 3010.6PRPH2, RIMS1
14retinitis10.6
15oral mucosa leukoplakia10.6CNGB3, GNAT2
16hypersensitivity vasculitis10.5PRPH2, RIMS1
17systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood10.5LRAT, RPE65
18lumbosacral plexus lesion10.5CNGB3, RHO
19macular degeneration, x-linked atrophic10.5ABCA4, RPGR
20bullous skin disease10.5CRB1, RHO
21pediatric extraocular retinoblastoma10.5CRB1, RS1
22methylmalonic aciduria, mut(0) type10.4IMPG1, PRPH2
23pure red-cell aplasia10.4CNGB3, GNAT2
24patau syndrome10.4CNGB3, RHO
25hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.4ABCA4, CRB1, PROM1, PRPH2
26senile reticular retinal degeneration10.3PRPH2, RPGR
27retinitis pigmentosa10.3
28combined oxidative phosphorylation deficiency 310.2PRPH2, RHO, RPE65
29choroiditis10.2
30cone-rod dystrophy10.1
31acquired color blindness10.1ABCA4, CNGB3, RHO, RPE65
32acute biphenotypic leukemia10.1CNGB3, GNAT2, RPGR, RS1
33hyperinsulinism10.1ABCA4, ELOVL4, RHO, RPE65
34choroidal sclerosis10.1PROM1, PRPH2, RIMS1, RS1
35natural killer cell and glucocorticoid deficiency with dna repair defect10.1PRPH2, RHO
36refractive error10.1PROM1, PRPH2, RIMS1, RS1
37retinal disease10.0
38very long-chain acyl-coenzyme a dehydrogenase deficiency10.0MYO7A, RPGR
39impetigo herpetiformis10.0ABCA4, CRB1, EYS, RPE65
40tibial collateral ligament bursitis10.0CRB1, RS1
41retinal degeneration9.9
42scotoma9.9
43occult macular dystrophy9.8
44retinoblastoma9.8
45choroideremia9.8
46leber congenital amaurosis9.8
47congenital stationary night blindness9.8
48macular holes9.8
49night blindness9.8
50posterior polar cataract9.8ABCA4, CNGB3, RHO, RPE65, RS1

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Retinol acetatePhase 2, Phase 197127-47-910245972
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
2retinolNutraceuticalPhase 2, Phase 1450
3
Vitamin ANutraceuticalPhase 2, Phase 145011103-57-4, 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
(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 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
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 A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
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
4
acetic acidNutraceuticalPhase 2, Phase 110164-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic acid, glacial
Acetic acid, ion(1-)
Azetat
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
5
FomepizolePhase 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
6
Hydroxychloroquine141118-42-33652
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 (1:1) Salt
Hydroxychloroquine [INN:BAN]
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
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular DystrophyCompletedNCT01345006Phase 1, Phase 2
2Safety 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)CompletedNCT01469832Phase 1, Phase 2
3Phase 2 Tolerability and Effects of ALK-001 on Stargardt DiseaseRecruitingNCT02402660Phase 2
4Phase I/IIa Study of SAR422459 in Patients With Stargardt's Macular DegenerationRecruitingNCT01367444Phase 1, Phase 2
5Stem Cell Therapy for Outer Retinal DegenerationsRecruitingNCT02903576Phase 1, Phase 2
6Saffron Supplementation in Stargardt's DiseaseActive, not recruitingNCT01278277Phase 1, Phase 2
7A 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
8Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular DystrophyCompletedNCT00060749Phase 1
9Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular DystrophyCompletedNCT00346853Phase 1
10Phase 1 Safety Study of ALK-001 in Healthy VolunteersCompletedNCT02230228Phase 1
11Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration DiseasesRecruitingNCT02749734Phase 1
12Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD)Active, not recruitingNCT01625559Phase 1
13Microcurrent Stimulation to Treat Macular DegenerationCompletedNCT01790958
14Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt DiseaseRecruitingNCT01676766
15Rod and Cone Mediated Function in Retinal DiseaseRecruitingNCT02617966
16Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 GeneRecruitingNCT01145196
17Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
18Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
19Natural History of Eye Diseases Related to ABCA4 MutationsRecruitingNCT01736293
20High Resolution Retinal ImagingRecruitingNCT01866371
21A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective StudiesActive, not recruitingNCT01977846
22The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular DystrophyActive, not recruitingNCT02410122
23Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy PatientsActive, not recruitingNCT02445612
24DHA Supplementation in Patients With STGD3Active, not recruitingNCT00420602
25Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic RetinopathyNot yet recruitingNCT02875704

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

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Genetic tests related to Stargardt Disease:

id Genetic test Affiliating Genes
1 Stargardt Disease23

Anatomical Context for Stargardt Disease

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MalaCards organs/tissues related to Stargardt Disease:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011866.9ABCA4, CRB1, ELOVL4, MYO7A, PROM1, PRPH2
2MP:00053916.2ABCA4, CNGB3, CRB1, ELOVL4, GNAT2, LRAT
3MP:00036315.6ABCA4, CNGB3, CRB1, ELOVL4, GNAT2, LRAT

Publications for Stargardt Disease

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Articles related to Stargardt Disease:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. (27030965)
2016
2
En face OCT in Stargardt disease. (26743751)
2016
3
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. (26786511)
2016
4
COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE. (26583307)
2016
5
Residual visual function in a man with a large subfoveal outer retinal tubulation in late-onset Stargardt disease. (26949114)
2016
6
Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene. (27116512)
2016
7
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. (25922843)
2015
8
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. (25837607)
2015
9
Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease. (26310168)
2015
10
Bicyclic [3.3.0]-Octahydrocyclopenta[c]pyrrolo Antagonists of Retinol Binding Protein 4: Potential Treatment of Atrophic Age-Related Macular Degeneration and Stargardt Disease. (26181715)
2015
11
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
12
Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease. (24585425)
2014
13
Correlations Amongst Near-Infrared and Short-Wavelength Autofluorescence and Spectral Domain Optical Coherence Tomography in Recessive Stargardt Disease. (25342616)
2014
14
Quantitative fundus autofluorescence in recessive Stargardt disease. (24677105)
2014
15
Fine central macular dots associated with childhood-onset Stargardt Disease. (24020726)
2013
16
A longitudinal study of stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. (24265018)
2013
17
Stargardt disease caused by a rare combination of double homozygous mutations. (24509150)
2013
18
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. (23953153)
2013
19
Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients. (24342785)
2013
20
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. (23499370)
2013
21
Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease. (24011517)
2013
22
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. (23419329)
2013
23
Abnormality in the external limiting membrane in early Stargardt disease. (22871184)
2013
24
Fundus autofluorescence patterns in stargardt disease over time-reply. (23753838)
2012
25
Fundus autofluorescence patterns in stargardt disease over time. (23044968)
2012
26
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. (23096905)
2012
27
Familial discordance in Stargardt disease. (22312191)
2012
28
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). (22076985)
2011
29
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease. (20398653)
2010
30
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (20108396)
2010
31
Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease. (20876139)
2010
32
Educational levels in patients with stargardt disease. (20688312)
2010
33
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (19694024)
2009
34
Novel lipofuscin bisretinoids prominent in human retina and in a model of recessive Stargardt disease. (19478335)
2009
35
Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD). (21297895)
2008
36
Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives. (18326749)
2008
37
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. (18334942)
2008
38
Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa. (18506364)
2008
39
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. (17297691)
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
Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1. (11923272)
2002
43
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. (11687513)
2001
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
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. (10442900)
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
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. (9425888)
1998
48
Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families. (9881544)
1998
49
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. (9295268)
1997
50
Genetic fine mapping of the gene for recessive Stargardt disease. (8792830)
1996

Variations for Stargardt Disease

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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.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
10ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508434: 94508435
11ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantLikely pathogenic, Pathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
12ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
13ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
14ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
15ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
16ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
17ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
18ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
19ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
20ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
21ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantPathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
22ABCA4NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys)single nucleotide variantPathogenicrs61750120GRCh37Chr 1, 94508323: 94508323
23ABCA4NM_000350.2(ABCA4): c.4540-2A> Gsingle nucleotide variantPathogenicrs61752435GRCh37Chr 1, 94490606: 94490606
24ABCA4NM_000350.2(ABCA4): c.5461-10T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs1800728GRCh37Chr 1, 94476951: 94476951
25ABCA4NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs61748550GRCh37Chr 1, 94544895: 94544895
26ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
27ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
28ABCA4NM_000350.2(ABCA4): c.1938-1G> Asingle nucleotide variantPathogenicrs61751263GRCh37Chr 1, 94526316: 94526316
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

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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:009738110.4ABCA4, RHO
2photoreceptor outer segment membraneGO:00426229.7GNAT2, PROM1, RHO
3photoreceptor inner segmentGO:00019179.4GNAT2, MYO7A, RHO
4photoreceptor outer segmentGO:00017508.5ABCA4, CNGB3, GNAT2, MYO7A, PROM1, PRPH2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1phototransduction, visible lightGO:000760310.5ABCA4, RHO
2vitamin A metabolic processGO:000677610.5LRAT, RPE65
3phototransductionGO:000760210.3GNAT2, RHO
4retina morphogenesis in camera-type eyeGO:006004210.2PROM1, RPE65
5eye photoreceptor cell developmentGO:004246210.2CRB1, MYO7A
6sensory perception of light stimulusGO:005095310.1MYO7A, RHO
7detection of light stimulus involved in visual perceptionGO:005090810.0EYS, GNAT2, RPE65
8retina layer formationGO:001084210.0PROM1, RS1
9retinoid metabolic processGO:00015239.6ABCA4, LRAT, RHO, RPE65
10retina development in camera-type eyeGO:00600419.6PRPH2, RHO, RPE65
11photoreceptor cell maintenanceGO:00454949.4ABCA4, PROM1, RHO
12retinol metabolic processGO:00425729.2LRAT, RDH8, RPE65
13response to stimulusGO:00508969.1LRAT, RDH8, RIMS1, RPGR
14visual perceptionGO:00076016.1ABCA4, CNGB3, GNAT2, IMPG1, LRAT, MYO7A

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:00080209.7ELOVL4, GNAT2, RHO

Sources for Stargardt Disease

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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