MCID: STR022
MIFTS: 54

Stargardt Disease malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease

About this section
Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 35LifeMap Discovery®, 36MalaCards, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Stargardt Disease:

Name: Stargardt Disease 36 35 11 48 24 54 13
Stargardt Disease 1 11 68
Juvenile Onset Macular Degeneration 48
Stargardt Macular Dystrophy 48
 
Fundus Flavimaculatus 54
Stargardt Disease-1 36
Stargardt's Disease 27
Stargardt 1 54

Characteristics:

Orphanet epidemiological data:

54
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: 54 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:0050817
Orphanet54 ORPHA827
UMLS via Orphanet69 C0271093
ICD10 via Orphanet31 H35.5

Summaries for Stargardt Disease

About this section
NIH Rare Diseases:48 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, and has symptoms including Array, Array and Array. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways are Vitamin A and carotenoid metabolism and Phototransduction. Affiliated tissues include eye, retina and testes, and related mouse phenotypes are pigmentation and nervous system.

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

Wikipedia:71 Stargardt disease, or fundus flavimaculatus, is the most frequent form of inherited juvenile macular... 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 64)
idRelated DiseaseScoreTop Affiliating Genes
1stargardt disease 134.0ABCA4, CNGB3, LRAT
2stargardt disease 412.2
3stargardt disease 312.1
4stargardt disease, autosomal recessive11.8
5abca4-related stargardt disease 111.8
6cngb3-related stargardt disease 111.8
7stargardt macular degeneration11.0
8multifocal pattern dystrophy simulating fundus flavimaculatus10.8
9stt3a-cdg10.7ABCA4, CNGB3
10tropical endomyocardial fibrosis10.6CNGB3, GNAT2
11arthrogryposis, distal, type 2a10.6CNGB3, GNAT2
12jalili syndrome10.5CNGB3, GNAT2
13mental retardation, autosomal recessive 3010.5PRPH2, RIMS1
14oral mucosa leukoplakia10.5CNGB3, GNAT2
15pediatric extraocular retinoblastoma10.5CRB1, RS1
16hypersensitivity vasculitis10.5PRPH2, RIMS1
17retinitis10.4
18macular degeneration, x-linked atrophic10.4ABCA4, RPGR
19systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood10.4LRAT, RPE65
20lumbosacral plexus lesion10.4CNGB3, RHO
21bullous skin disease10.4CRB1, RHO
22pure red-cell aplasia10.4CNGB3, GNAT2
23patau syndrome10.3CNGB3, RHO
24hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.3ABCA4, CRB1, PROM1, PRPH2
25senile reticular retinal degeneration10.3PRPH2, RPGR
26very long-chain acyl-coenzyme a dehydrogenase deficiency10.2MYO7A, RPGR
27retinitis pigmentosa10.2
28combined oxidative phosphorylation deficiency 310.2PRPH2, RHO, RPE65
29acute biphenotypic leukemia10.2CNGB3, GNAT2, RPGR, RS1
30choroidal sclerosis10.1PROM1, PRPH2, RIMS1, RS1
31refractive error10.1PROM1, PRPH2, RIMS1, RS1
32acquired color blindness10.1ABCA4, CNGB3, RHO, RPE65
33hyperinsulinism10.1ABCA4, ELOVL4, RHO, RPE65
34natural killer cell and glucocorticoid deficiency with dna repair defect10.1PRPH2, RHO
35choroiditis10.1
36cone-rod dystrophy10.0
37tibial collateral ligament bursitis10.0CRB1, RS1
38infiltrating angiolipoma10.0PRPH2, RHO, RPE65, RPGR
39impetigo herpetiformis10.0ABCA4, CRB1, RDH12, RPE65
40retinal disease9.9
41posterior polar cataract9.9ABCA4, CNGB3, RHO, RPE65, RS1
42retinal degeneration9.8
43scotoma9.8
44x-linked infantile nystagmus9.7ABCA4, CNGB3, ELOVL4, PRPH2, RHO, RIMS1
45osteopoikilosis and dacryocystitis9.7ABCA4, CRB1, PRPH2, RHO, RPE65, RPGR
46hypertrichotic osteochondrodysplasia9.7ABCA4, CRB1, PRPH2, RHO, RPE65, RPGR
47ichthyosis, congenital, autosomal recessive 39.7ABCA4, CRB1, PRPH2, RHO, RPE65, RPGR
48carnitine deficiency, systemic primary9.7ABCA4, CRB1, PRPH2, RHO, RPE65, RPGR
49immunodeficiency 41 with lymphoproliferation and autoimmunity9.7ABCA4, CRB1, PRPH2, RHO, RPE65, RPGR
50occult macular dystrophy9.7

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



Diseases related to stargardt disease

Symptoms & Phenotypes for Stargardt Disease

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Human phenotypes related to Stargardt Disease:

 54 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fovea54 Very frequent (99-80%)
2 abnormality of color vision54 Very frequent (99-80%)
3 central scotoma54 Very frequent (99-80%)
4 macular degeneration54 Very frequent (99-80%)
5 abnormality of the choroid54 Very frequent (99-80%)
6 abnormality of visual evoked potentials54 Very frequent (99-80%)
7 night blindness54 Very frequent (99-80%)
8 reduced visual acuity54 Very frequent (99-80%)
9 paroxysmal involuntary eye movements54 Very frequent (99-80%)
10 loss of retinal pigment epithelium54 Very frequent (99-80%)
11 salt and pepper retinopathy54 Very frequent (99-80%)
12 abnormality of macular pigmentation54 Very frequent (99-80%)
13 aplasia/hypoplasia of the macula54 Frequent (79-30%)

MGI Mouse Phenotypes related to Stargardt Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011867.5ABCA4, CRB1, ELOVL4, MERTK, MYO7A, PROM1
2MP:00036316.4ABCA4, CNGB3, CRB1, ELOVL4, GNAT2, LRAT
3MP:00053915.9ABCA4, CNGB3, CRB1, ELOVL4, GNAT2, LRAT

Drugs & Therapeutics for Stargardt Disease

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
acetic acidapproved, NutraceuticalPhase 2, Phase 110764-19-7176
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
2
Vitamin Aapproved, nutraceutical, vet_approvedPhase 2, Phase 146811103-57-4, 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
3VitaminsPhase 2, Phase 15095
4Retinol palmitatePhase 2, Phase 1468
5
Retinol acetatePhase 2, Phase 1103127-47-910245972
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
6Pharmaceutical SolutionsPhase 1, Phase 27793
7retinolNutraceuticalPhase 2, Phase 1468
8
Fomepizoleapproved, vet_approvedPhase 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
9Protective AgentsPhase 17190
10AntidotesPhase 11038
11Omega 3 Fatty AcidNutraceuticalPhase 1969
12
Hydroxychloroquineapproved146118-42-33652
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
13Antirheumatic Agents10627
14Antiprotozoal Agents1986
15Antimalarials1216
16Anti-Infective Agents21402
17Antiparasitic Agents2127

Interventional clinical trials:

(show all 28)
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
3Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt DiseaseRecruitingNCT03033108Phase 2
4Phase I/IIa Study of SAR422459 in Patients With Stargardt's Macular DegenerationRecruitingNCT01367444Phase 1, Phase 2
5Phase 2 Tolerability and Effects of ALK-001 on Stargardt DiseaseRecruitingNCT02402660Phase 2
6Stem Cell Therapy for Outer Retinal DegenerationsRecruitingNCT02903576Phase 1, Phase 2
7Saffron Supplementation in Stargardt's DiseaseActive, not recruitingNCT01278277Phase 1, Phase 2
8A 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
9Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD)Unknown statusNCT01625559Phase 1
10Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular DystrophyCompletedNCT00346853Phase 1
11Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular DystrophyCompletedNCT00060749Phase 1
12Phase 1 Safety Study of ALK-001 in Healthy VolunteersCompletedNCT02230228Phase 1
13Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration DiseasesRecruitingNCT02749734Phase 1
14Microcurrent Stimulation to Treat Macular DegenerationCompletedNCT01790958
15Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic RetinopathyRecruitingNCT02875704
16Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 GeneRecruitingNCT01145196
17Rod and Cone Mediated Function in Retinal DiseaseRecruitingNCT02617966
18Natural History of Eye Diseases Related to ABCA4 MutationsRecruitingNCT01736293
19Stem Cell Ophthalmology Treatment Study IIRecruitingNCT03011541
20Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
21Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
22High Resolution Retinal ImagingRecruitingNCT01866371
23A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective StudiesActive, not recruitingNCT01977846
24The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular DystrophyActive, not recruitingNCT02410122
25Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy PatientsActive, not recruitingNCT02445612
26A Follow up Study to Determine the Safety 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 recruitingNCT02941991
27DHA Supplementation in Patients With STGD3Active, not recruitingNCT00420602
28Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt DiseaseTerminatedNCT01676766

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 Disease27 24

Anatomical Context for Stargardt Disease

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MalaCards organs/tissues related to Stargardt Disease:

36
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

Publications for Stargardt Disease

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Articles related to Stargardt Disease:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
Stargardt disease-associated mutation spectrum of a Russian Federation cohort. (27939946)
2017
2
Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. (27030965)
2016
3
En face OCT in Stargardt disease. (26743751)
2016
4
Asymmetric Inter-Eye Progression in Stargardt Disease. (28002570)
2016
5
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. (26786511)
2016
6
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families. (27739528)
2016
7
Progression of Late-Onset Stargardt Disease. (27699414)
2016
8
COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE. (26583307)
2016
9
Residual visual function in a man with a large subfoveal outer retinal tubulation in late-onset Stargardt disease. (26949114)
2016
10
Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene. (27116512)
2016
11
Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography. (27628426)
2016
12
En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease. (27409479)
2016
13
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. (26780318)
2016
14
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. (27775217)
2016
15
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10Ta89C Mutation in Stargardt Disease. (26976702)
2016
16
Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? (26427432)
2016
17
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease. (28050124)
2016
18
Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients. (27813578)
2016
19
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). (27378015)
2016
20
Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial. (27730010)
2016
21
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. (27491360)
2016
22
Fluorescence Lifetime Imaging in Stargardt Disease: Potential Marker for Disease Progression. (26934141)
2016
23
Fixation Improvement through Biofeedback Rehabilitation in Stargardt Disease. (27212950)
2016
24
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease. (26981328)
2016
25
MAPPING THE DENSE SCOTOMA AND ITS ENLARGEMENT IN STARGARDT DISEASE. (26909568)
2016
26
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. (25922843)
2015
27
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. (25837607)
2015
28
Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease. (26310168)
2015
29
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
30
Early-onset stargardt disease: phenotypic and genotypic characteristics. (25444351)
2015
31
Choroidal hyperreflective foci in stargardt disease shown by spectral-domain optical coherence tomography imaging: correlation with disease severity. (25590640)
2015
32
Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease. (26024107)
2015
33
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis. (26161775)
2015
34
Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease. (26420842)
2015
35
New insights into Stargardt disease with multimodal imaging. (25707054)
2015
36
Ranibizumab for subfoveal choroidal neovascularisation associated with Stargardt disease. (25740804)
2015
37
Choroidal Thickness in Eyes With Central Geographic Atrophy Secondary to Stargardt Disease and Age-Related Macular Degeneration. (26431296)
2015
38
Estimation of depression prevalence in patients with Stargardt disease using PHQ-9 and Zung scores. (26541115)
2015
39
Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography. (26314663)
2015
40
Cone and Rod Loss in Stargardt Disease Revealed by Adaptive Optics Scanning Light Ophthalmoscopy. (26247787)
2015
41
Dark-adapted visual function with retinal structural changes in patients with Stargardt disease. (25611879)
2015
42
Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease. (26207301)
2015
43
The effect of light deprivation in patients withA stargardt disease. (25681002)
2015
44
Epiretinal membrane removal in patients with Stargardt disease. (25686068)
2015
45
Colour Vision in Stargardt Disease. (26492201)
2015
46
Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography. (26230768)
2015
47
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy. (26311262)
2015
48
Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography. (26572727)
2015
49
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
50
Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease. (24585425)
2014

Variations for Stargardt Disease

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Clinvar genetic disease variations for Stargardt Disease:

5 (show all 68)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.1253T> C (p.Phe418Ser)SNVLikely pathogenic, Pathogenicrs794726979GRCh37Chr 1, 94544249: 94544249
2ABCA4NM_000350.2(ABCA4): c.880C> T (p.Gln294Ter)SNVPathogenicrs794727903GRCh37Chr 1, 94546253: 94546253
3ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)SNV, CompoundHeterozygoteLikely pathogenic, Pathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
4ABCA4NM_000350.2(ABCA4): c.1A> G (p.Met1Val)SNV, HaplotypePathogenicrs201738997GRCh37Chr 1, 94586601: 94586601
5ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)SNV, HaplotypePathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
6ABCA4NM_000350.2(ABCA4): c.4947delC (p.Glu1650Argfs)deletionPathogenicrs61750159GRCh37Chr 1, 94486867: 94486867
7ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)SNVPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
8CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
9CNGB3NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp)SNVPathogenicrs35365413GRCh37Chr 8, 87641222: 87641222
10ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)SNVPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
11ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)SNVPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
12ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)SNVPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
13ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508434: 94508435
14ABCA4NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe)SNVLikely pathogenic, Pathogenicrs28938473GRCh37Chr 1, 94473287: 94473287
15ABCA4NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg)SNVPathogenicrs61753034GRCh37Chr 1, 94473283: 94473283
16ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)SNVPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
17ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)SNVPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
18ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)SNVLikely pathogenic, Pathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
19ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)SNVLikely pathogenic, Pathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
20ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)SNV, HaplotypePathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
21ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)SNVPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
22ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)SNVPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
23ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)SNVPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
24ABCA4NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys)SNVLikely pathogenic, Pathogenicrs61750120GRCh37Chr 1, 94508323: 94508323
25ABCA4NM_000350.2(ABCA4): c.4540-2A> GSNVPathogenicrs61752435GRCh37Chr 1, 94490606: 94490606
26ABCA4NM_000350.2(ABCA4): c.5461-10T> CSNVLikely pathogenic, Pathogenicrs1800728GRCh37Chr 1, 94476951: 94476951
27ABCA4NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter)SNVPathogenicrs61748550GRCh37Chr 1, 94544895: 94544895
28ABCA4NM_000350.2(ABCA4): c.122G> A (p.Trp41Ter)SNVPathogenicrs61751410GRCh37Chr 1, 94578567: 94578567
29ABCA4NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr)SNVLikely pathogenic, Pathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
30ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)SNVPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
31ABCA4NM_000350.2(ABCA4): c.1760+2T> GSNVPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
32ABCA4NM_000350.2(ABCA4): c.1804C> T (p.Arg602Trp)SNVPathogenicrs61749409GRCh37Chr 1, 94528266: 94528266
33ABCA4NM_000350.2(ABCA4): c.1903C> T (p.Gln635Ter)SNVPathogenicrs61749414GRCh37Chr 1, 94528167: 94528167
34ABCA4NM_000350.2(ABCA4): c.1937+1G> ASNVPathogenicrs61752401GRCh37Chr 1, 94528132: 94528132
35ABCA4NM_000350.2(ABCA4): c.1938-1G> ASNVPathogenicrs61751263GRCh37Chr 1, 94526316: 94526316
36ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)SNVLikely pathogenic, Pathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
37ABCA4NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter)SNVLikely pathogenic, Pathogenicrs61749423GRCh37Chr 1, 94526212: 94526212
38ABCA4NM_000350.2(ABCA4): c.2300T> A (p.Val767Asp)SNVPathogenicrs61751395GRCh37Chr 1, 94522239: 94522239
39ABCA4NM_000350.2(ABCA4): c.2564G> A (p.Trp855Ter)SNVPathogenicrs61752406GRCh37Chr 1, 94520690: 94520690
40ABCA4NM_000350.2(ABCA4): c.296dupA (p.Asn99Lysfs)duplicationPathogenicrs62645948GRCh37Chr 1, 94577000: 94577000
41ABCA4NM_000350.2(ABCA4): c.3085C> T (p.Gln1029Ter)SNVPathogenicrs61751397GRCh37Chr 1, 94508997: 94508997
42ABCA4NM_000350.2(ABCA4): c.3808G> T (p.Glu1270Ter)SNVPathogenicrs61752425GRCh37Chr 1, 94502706: 94502706
43ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)SNVLikely pathogenic, Pathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
44ABCA4NM_000350.2(ABCA4): c.4234C> T (p.Gln1412Ter)SNVPathogenicrs61750137GRCh37Chr 1, 94496571: 94496571
45ABCA4NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg)SNVLikely pathogenic, Pathogenicrs61750146GRCh37Chr 1, 94495078: 94495078
46ABCA4NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr)SNVPathogenicrs61751402GRCh37Chr 1, 94495071: 94495071
47ABCA4NM_000350.2(ABCA4): c.454C> T (p.Arg152Ter)SNVPathogenicrs62646861GRCh37Chr 1, 94568687: 94568687
48ABCA4NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met)SNVLikely pathogenic, Pathogenicrs61750152GRCh37Chr 1, 94490567: 94490567
49ABCA4NM_000350.2(ABCA4): c.4594G> A (p.Asp1532Asn)SNVLikely pathogenic, Pathogenicrs62642574GRCh37Chr 1, 94490550: 94490550
50ABCA4NM_000350.2(ABCA4): c.45G> A (p.Trp15Ter)SNVPathogenicrs62645957GRCh37Chr 1, 94586557: 94586557
51ABCA4NM_000350.2(ABCA4): c.4610C> T (p.Thr1537Met)SNVPathogenicrs62642575GRCh37Chr 1, 94490534: 94490534
52ABCA4NM_000350.2(ABCA4): c.4918C> T (p.Arg1640Trp)SNVLikely pathogenic, Pathogenicrs61751404GRCh37Chr 1, 94486896: 94486896
53ABCA4NM_000350.2(ABCA4): c.4919G> A (p.Arg1640Gln)SNVPathogenicrs61751403GRCh37Chr 1, 94486895: 94486895
54ABCA4NM_000350.2(ABCA4): c.5018+2T> CSNVPathogenicrs61750562GRCh37Chr 1, 94486794: 94486794
55ABCA4NM_000350.2(ABCA4): c.5161_5162delAC (p.Thr1721Hisfs)deletionPathogenicrs61750566GRCh37Chr 1, 94485172: 94485173
56ABCA4NM_000350.2(ABCA4): c.5196+1G> ASNVPathogenicrs61751377GRCh37Chr 1, 94485137: 94485137
57ABCA4NM_000350.2(ABCA4): c.5196+2T> CSNVPathogenicrs61751405GRCh37Chr 1, 94485136: 94485136
58ABCA4NM_000350.2(ABCA4): c.5714+5G> ASNVPathogenicrs61751407GRCh37Chr 1, 94476351: 94476351
59ABCA4NM_000350.2(ABCA4): c.5917delG (p.Val1973Terfs)deletionPathogenicrs61751389GRCh37Chr 1, 94473278: 94473278
60ABCA4NM_000350.2(ABCA4): c.6112C> T (p.Arg2038Trp)SNVPathogenicrs61750643GRCh37Chr 1, 94471032: 94471032
61ABCA4NM_000350.2(ABCA4): c.6118C> T (p.Arg2040Ter)SNVPathogenicrs61753038GRCh37Chr 1, 94471026: 94471026
62ABCA4NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp)SNVLikely pathogenic, Pathogenicrs61750645GRCh37Chr 1, 94467467: 94467467
63ABCA4NM_000350.2(ABCA4): c.6342G> A (p.Val2114=)SNVPathogenicrs61748520GRCh37Chr 1, 94466602: 94466602
64ABCA4NM_000350.2(ABCA4): c.6386+2C> GSNVPathogenicrs61753043GRCh37Chr 1, 94466556: 94466556
65ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)SNVPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426
66ABCA4NM_000350.2(ABCA4): c.6609C> A (p.Tyr2203Ter)SNVPathogenicrs61753045GRCh37Chr 1, 94463537: 94463537
67ABCA4NM_000350.2(ABCA4): c.6658C> T (p.Gln2220Ter)SNVPathogenicrs61753046GRCh37Chr 1, 94463488: 94463488
68ABCA4NM_000350.2(ABCA4): c.768G> T (p.Val256=)SNVPathogenicrs62645944GRCh37Chr 1, 94564350: 94564350

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:009738110.5ABCA4, RHO
2photoreceptor inner segment membraneGO:006034210.2RDH12, RHO
3photoreceptor inner segmentGO:000191710.1GNAT2, MYO7A, RHO
4photoreceptor outer segment membraneGO:00426229.7GNAT2, PROM1, RHO
5integral component of plasma membraneGO:00058878.9ABCA4, CNGB3, MERTK, PROM1, PRPH2, RDH8
6photoreceptor outer segmentGO:00017508.5ABCA4, CNGB3, GNAT2, MERTK, MYO7A, PROM1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulus involved in visual perceptionGO:005090810.7GNAT2, RPE65
2retina morphogenesis in camera-type eyeGO:006004210.7PROM1, RPE65
3phototransduction, visible lightGO:000760310.6ABCA4, RHO
4retina layer formationGO:001084210.6PROM1, RS1
5eye photoreceptor cell developmentGO:004246210.6CRB1, MYO7A
6phototransductionGO:000760210.6GNAT2, RHO
7sensory perception of light stimulusGO:005095310.4MYO7A, RHO
8photoreceptor cell maintenanceGO:004549410.1ABCA4, PROM1, RDH12, RHO
9vitamin A metabolic processGO:00067769.9LRAT, RPE65
10retina development in camera-type eyeGO:00600419.9MERTK, PRPH2, RHO, RPE65
11retinoid metabolic processGO:00015239.6ABCA4, LRAT, RDH12, RHO, RPE65
12retinol metabolic processGO:00425729.5LRAT, RDH12, RDH8, RPE65
13response to stimulusGO:00508969.3LRAT, RDH12, RDH8, RIMS1, RPGR
14visual perceptionGO:00076016.8ABCA4, CNGB3, GNAT2, LRAT, MYO7A, PRPH2

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:000802010.1ELOVL4, GNAT2, RHO
2NADP-retinol dehydrogenase activityGO:00526509.8RDH12, RDH8
3retinol dehydrogenase activityGO:00047459.4RDH12, RDH8

Sources for Stargardt Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet