STGD
MCID: STR022
MIFTS: 62

Stargardt Disease (STGD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease 39 11 19 42 58 75 28 5 43 14 36
Stargardt Macular Dystrophy 19 5
Stargardt Disease 1 11 71
Macular Dystrophy with Flecks, Type 1 42
Juvenile Onset Macular Degeneration 19
Stargardt Macular Degeneration 42
Juvenile Macular Degeneration 42
Fundus Flavimaculatus 58
Stargardt Disease-1 39
Stargardts Disease 53
Stargardt 1 58
Stgd 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-5/10000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Childhood,Elderly 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0050817
MeSH 43 D000080362
ICD10 via Orphanet 32 H35.5
UMLS via Orphanet 72 C0271093 C1855465
Orphanet 58 ORPHA827
UMLS 71 C1855465

Summaries for Stargardt Disease

MedlinePlus Genetics: 42 Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.

MalaCards based summary: Stargardt Disease, also known as stargardt macular dystrophy, is related to stargardt disease 3 and stargardt disease 1. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Diseases of the neuronal system. The drugs Metformin and Acetic acid have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are reduced visual acuity and abnormality of visual evoked potentials

GARD: 19 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. It is most commonly caused by genetic changes in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by genetic changes in other genes and inherited in an autosomal dominant manner.

Orphanet: 58 A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

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

Wikipedia: 75 Stargardt disease is the most common inherited single-gene retinal disease. In terms of the first... more...

Related Diseases for Stargardt Disease

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 3
Stargardt Disease 4

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

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 3 33.2 ELOVL4 ABCA4
2 stargardt disease 1 32.9 TULP1 RDH12 PRPH2 PROM1 MFSD8 KCNV2
3 severe early-childhood-onset retinal dystrophy 31.9 MFSD8 CNGB3 ABCA4
4 macular degeneration, age-related, 1 31.7 RPGR RHO RDH12 PRPH2 GNAT2 FLVCR1
5 retinal disease 31.6 RPGR RHO PRPH2 CRX CRB1 CFH
6 retinitis 31.5 TULP1 RPGR RHO PRPH2 FLVCR1 EYS
7 peripheral retinal degeneration 31.5 RPGR RHO COL2A1 CNGB3 ABCA4
8 scotoma 31.5 RPGR RHO PRPH2 GNAT2 CNGB3 ABCA4
9 cone-rod dystrophy 3 31.4 RPGR CRX ABCA4
10 leber congenital amaurosis 4 31.4 TULP1 RDH12 PRPH2 CRX CRB1
11 retinal degeneration 31.3 TULP1 RPGR RHO RDH12 PRPH2 PROM1
12 retinitis pigmentosa 31.3 TULP1 RPGR RHO RDH12 PRPH2 PROM1
13 cone-rod dystrophy 2 31.2 TULP1 RPGR RHO RDH12 PRPH2 PROM1
14 retinitis pigmentosa 19 31.2 RPGR ELOVL4 ABCA4
15 fundus dystrophy 31.1 TULP1 RPGR RHO RDH12 PRPH2 PROM1
16 macular dystrophy, vitelliform, 2 30.9 PRPH2 BEST1
17 hereditary retinal dystrophy 30.9 RHO PRPH2 EYS ELOVL4 CRB1 BEST1
18 leber congenital amaurosis 8 30.9 TULP1 RDH12 CRX CRB1
19 choroideremia 30.9 RPGR RHO PRPH2 EYS CNGB3 BEST1
20 eye disease 30.8 TULP1 RPGR RHO RDH12 PRPH2 GPHN
21 retinitis pigmentosa 7 30.8 RHO PRPH2 ABCA4
22 macular dystrophy, patterned, 1 30.7 PRPH2 BEST1
23 refractive error 30.7 RPGR RHO CRB1 COL2A1 CFH BEST1
24 tritanopia 30.7 GNAT2 CNGB3
25 retinoschisis 1, x-linked, juvenile 30.7 RPGR RHO PRPH2 KCNV2 GNAT2 CRX
26 doyne honeycomb retinal dystrophy 30.6 PRPH2 ELOVL4 CRB1 CFH BEST1 ABCA4
27 leber plus disease 30.6 TULP1 RPGR RHO RDH12 PRPH2 PROM1
28 myopia 30.6 RPGR RHO COL2A1 CNGB3
29 vitelliform macular dystrophy 30.6 RPGR RHO PRPH2 KCNV2 EYS ELOVL4
30 fundus albipunctatus 30.6 TULP1 RPGR RHO RDH12 PRPH2 EYS
31 retinitis pigmentosa 12 30.6 RPGR CRB1
32 macular retinal edema 30.6 RHO CRB1 BEST1 ABCA4
33 progressive cone dystrophy 30.5 RPGR PRPH2 KCNV2 GNAT2 CNGB3 ABCA4
34 occult macular dystrophy 30.5 RPGR PRPH2 KCNV2 EYS CRX CNGB3
35 bardet-biedl syndrome 30.5 TULP1 RPGR RHO RDH12 PRPH2 EYS
36 gyrate atrophy of choroid and retina 30.5 RPGR RHO RDH12 PRPH2 CNGB3 BEST1
37 color blindness 30.4 RPGR RHO PRPH2 KCNV2 GNAT2 EYS
38 retinal detachment 30.4 RHO COL2A1 CFH
39 night blindness 30.4 TULP1 RPGR RHO RDH12 PRPH2 KCNV2
40 congenital stationary night blindness 30.3 TULP1 RPGR RHO RDH12 PRPH2 KCNV2
41 pathologic nystagmus 30.3 GNAT2 CNGB3
42 cone dystrophy 30.3 TULP1 RPGR RHO RDH12 PRPH2 KCNV2
43 hypotrichosis, congenital, with juvenile macular dystrophy 11.7
44 stargardt disease 4 11.6
45 multifocal pattern dystrophy simulating fundus flavimaculatus 11.4
46 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features 11.4
47 inherited retinal disorder 10.5
48 cone-rod dystrophy 1 10.5 RPGR CNGB3
49 leber congenital amaurosis 1 10.5 TULP1 PROM1 CRX CRB1
50 toxic maculopathy 10.5 PRPH2 ELOVL4 ABCA4

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



Diseases related to Stargardt Disease

Symptoms & Phenotypes for Stargardt Disease

Human phenotypes related to Stargardt Disease:

58 30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 58 30 Obligate (100%) Obligate (100%)
HP:0007663
2 abnormality of visual evoked potentials 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000649
3 nyctalopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000662
4 color vision defect 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000551
5 paroxysmal involuntary eye movements 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007704
6 macular degeneration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000608
7 abnormal choroid morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000610
8 abnormality of macular pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008002
9 retinal pigment epithelial mottling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007814
10 abnormal foveal morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000493
11 central scotoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000603
12 retinal pigment epithelial atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007722
13 retinal thinning 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030329
14 aplasia/hypoplasia of the macula 58 30 Frequent (33%) Frequent (79-30%)
HP:0008059
15 yellow/white lesions of the macula 58 30 Frequent (33%) Frequent (79-30%)
HP:0030500

GenomeRNAi Phenotypes related to Stargardt Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ABCA4 BEST1 CFH CNGB3 COL2A1 CRB1
2 no effect GR00402-S-2 10.15 ABCA4 CFH CNGB3 COL2A1 CRB1 CRX

MGI Mouse Phenotypes related to Stargardt Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.19 ABCA4 CFH CNGB3 COL2A1 CRB1 CRX
2 pigmentation MP:0001186 10.1 ABCA4 BEST1 CFH CRB1 CRX ELOVL4
3 cellular MP:0005384 9.97 BEST1 CNGB3 COL2A1 CRB1 ELOVL4 GPHN
4 cardiovascular system MP:0005385 9.77 ABCA4 CFH COL2A1 CRB1 CRX FLVCR1
5 vision/eye MP:0005391 9.58 ABCA4 BEST1 CFH CNGB3 COL2A1 CRB1

Drugs & Therapeutics for Stargardt Disease

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 1, Phase 2 1115-70-4, 657-24-9 4091
2
Acetic acid Approved Phase 2 64-19-7 176
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 22737-96-8, 68-26-8 5280382 445354
4
Zuretinol acetate Investigational Phase 2 127-47-9, 29584-22-3 10245972
5 Complement System Proteins Phase 2
6 Hypoglycemic Agents Phase 1, Phase 2
7 Vitamins Phase 2
8 Adjuvants, Immunologic Phase 2
9 Trace Elements Phase 2
10 Micronutrients Phase 2
11 Immunologic Factors Phase 2
12 Retinol palmitate Phase 2
13 Protective Agents Phase 2
14 Pharmaceutical Solutions Phase 1, Phase 2
15
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
16 Omega 3 Fatty Acid Phase 1
17 Antidotes Phase 1
18 Sunflower

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Multicenter, Randomized, Double-Masked Study Comparing the Efficacy and Safety of Emixustat Hydrochloride With Placebo for the Treatment of Macular Atrophy Secondary to Stargardt Disease Completed NCT03772665 Phase 3 Emixustat;Placebo
2 Phase 3, Multicenter, Randomized, Double-Masked, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Tinlarebant in the Treatment of Stargardt Disease in Adolescent Subjects Recruiting NCT05244304 Phase 3 Tinlarebant;Placebo
3 Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration Diseases Unknown status NCT02749734 Phase 1, Phase 2
4 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
5 A Phase 2a Study of the Safety, Pharmacokinetics and Pharmacodynamics of STG-001 in Subjects With Stargardt Disease (STGD1) Caused by Autosomal Recessive Mutation in ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene Completed NCT04489511 Phase 2 STG-001
6 A Phase 2a Multicenter, Randomized, Masked Study Evaluating the Pharmacodynamics of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
7 A Phase I/II, Open-Label, Multi-Center, Prospective 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) Completed NCT01469832 Phase 1, Phase 2
8 A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01345006 Phase 1, Phase 2
9 Stem Cell Derived Retinal Pigmented Epithelium Implantation in Patients With Outer Retinal Degenerations: Phase I/II Clinical Trial Completed NCT02903576 Phase 1, Phase 2
10 A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
11 A Phase 2b Randomized, Double-masked, Controlled Trial to Establish the Safety and Efficacy of Zimura™ (Complement C5 Inhibitor) Compared to Sham in Subjects With Autosomal Recessive Stargardt Disease Recruiting NCT03364153 Phase 2 Zimura
12 Oral Metformin for Treatment of ABCA4 Retinopathy Recruiting NCT04545736 Phase 1, Phase 2 Metformin hydrochloride
13 Phase 1/2, Open-Label, Dose-Finding Followed by 2-Year Extension Study to Evaluate Safety and Tolerability of Tinlarebant in Adolescent Subjects With Stargardt Disease Active, not recruiting NCT05266014 Phase 1, Phase 2 tinlarebant
14 A Phase 2a, Open Label Multicenter Clinical Trial to Evaluate the Safety and Effects of a Single Intravitreal Injection of vMCO-010 Optogenetic Therapy in Subjects With Stargardt Disease Active, not recruiting NCT05417126 Phase 2
15 An Open Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular Degeneration Active, not recruiting NCT01736592 Phase 1, Phase 2 Long term follow up in all patients who received SAR422459 in previous study TDU13583
16 A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease Enrolling by invitation NCT04239625 Phase 2 ALK-001
17 A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR422459, Administered to Patients With Stargardt's Macular Degeneration Terminated NCT01367444 Phase 1, Phase 2 SAR422459
18 Stem Cells Therapy in Degenerative Diseases of the Retina Unknown status NCT03772938 Phase 1
19 A Phase I, Open-Label, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial(MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy(SMD) Unknown status NCT01625559 Phase 1
20 A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
21 Investigation of the Effect of Dietary Docosahexaenoic Acid (DHA) Supplementation on Macular Function in Subjects With Autosomal Dominant Stargardt-Like and Autosomal Recessive Stargardt Macular Dystrophy Completed NCT00060749 Phase 1 Docosahexaenoic Acid (DHA) Dietary Supplement
22 Clinical Interventions Against Stargardt Macular Dystrophy: Phase 1 Pilot Study of 4-MP as an Inhibitor of Dark Adaptation Completed NCT00346853 Phase 1 4-Methylpyrazole
23 Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision Unknown status NCT04281732
24 Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease Completed NCT01977846
25 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a PROM1- Related Macular Dystrophy Completed NCT02410122
26 Prospective, Randomised, Double-blind Study to Assess the Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease (Macular Degeneration Omega-3 Study - MADEOS Completed NCT03297515
27 ¿Es Util la Acupuntura en la Degeneracion Macular? Prospective Study of Efficacy of Acupuncture in Macular Diseases Completed NCT02255981
28 New Methods of Dynamic Pupillometrics in Subjects With Visual and Color Vision Pathologies for the Detection, Functional Diagnosis and Follow-up of These Pathologies Completed NCT04909398
29 Clinical Interventions Against Stargardt Macular Dystrophy: DHA Supplementation in Patients With STGD3 Completed NCT00420602
30 Long Term Follow Up to a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02445612
31 Follow-up to 5 Years of a Phase I/II, Open-Label, Multi-Center, Prospective 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) Completed NCT02941991
32 An Observational, Multi-Center Phase 1 Study of the Safety and Effectiveness of Frequency Specific Microcurrent Stimulation as an Alternative Treatment for Retinal Diseases Completed NCT01790958
33 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
34 Structural and Functional Characterization of Rare Ocular Diseases Recruiting NCT05258032
35 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
36 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
37 Natural History of ABCA4-Related Retinopathies Active, not recruiting NCT01736293
38 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766
39 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Terminated NCT02875704

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

Cochrane evidence based reviews: stargardt disease

Genetic Tests for Stargardt Disease

Genetic tests related to Stargardt Disease:

# Genetic test Affiliating Genes
1 Stargardt Disease 28

Anatomical Context for Stargardt Disease

Organs/tissues related to Stargardt Disease:

MalaCards : Eye, Retina, Bone Marrow, Bone, Cortex, Brain, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Stargardt Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate

Publications for Stargardt Disease

Articles related to Stargardt Disease:

(show top 50) (show all 1270)
# Title Authors PMID Year
1
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. 53 62 5
19265867 2010
2
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 53 62 5
18285826 2008
3
Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? 53 62 5
18652558 2008
4
Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. 53 62 5
17325179 2007
5
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. 53 62 5
15494742 2004
6
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 53 62 5
15579991 2004
7
Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa. 53 62 5
15108289 2004
8
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. 53 62 5
14517951 2003
9
ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease. 53 62 5
12592048 2003
10
ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. 53 62 5
12202497 2002
11
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. 53 62 5
11687513 2001
12
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. 53 62 5
11702214 2001
13
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 53 62 5
10958763 2000
14
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 53 62 5
10958761 2000
15
Biochemical defects in ABCR protein variants associated with human retinopathies. 53 62 5
11017087 2000
16
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 53 62 5
10711710 2000
17
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 53 62 5
10746567 2000
18
An analysis of ABCR mutations in British patients with recessive retinal dystrophies. 53 62 5
10634594 2000
19
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 53 62 5
10612508 1999
20
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. 53 62 5
10396622 1999
21
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. 53 62 5
10874631 1999
22
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. 53 62 5
10090887 1999
23
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 53 62 5
9973280 1999
24
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 53 62 5
9781034 1998
25
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 53 62 5
9466990 1998
26
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 53 62 5
9503029 1998
27
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 53 62 5
9295268 1997
28
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 53 62 5
9054934 1997
29
Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies. 62 5
33261146 2020
30
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. 62 5
32619608 2020
31
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. 62 5
32307445 2020
32
Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing. 62 5
31934596 2020
33
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 62 5
31456290 2020
34
Highly Variable Disease Courses in Siblings with Stargardt Disease. 62 5
31522899 2019
35
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. 62 5
31766579 2019
36
Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease. 62 5
31614660 2019
37
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. 62 5
31618761 2019
38
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. 62 5
30643219 2019
39
Modification of the PROM1 disease phenotype by a mutation in ABCA4. 62 5
31576780 2019
40
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases. 62 5
31144483 2019
41
The absence of fundus abnormalities in Stargardt disease. 62 5
30903310 2019
42
Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations. 62 5
30798147 2019
43
Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease. 62 5
30834176 2019
44
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. 62 5
29925512 2019
45
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing. 62 5
29975949 2019
46
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans. 62 5
31814693 2019
47
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing. 62 5
29461686 2018
48
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes. 62 5
29848554 2018
49
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. 62 5
30060493 2018
50
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. 62 5
29526278 2018

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

5 (show top 50) (show all 624)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCA4 NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) SNV Established Risk Allele
Likely Pathogenic
7913 rs1801581 GRCh37: 1:94512565-94512565
GRCh38: 1:94047009-94047009
2 ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) SNV Pathogenic
Pathogenic
Pathogenic
7879 rs76157638 GRCh37: 1:94517254-94517254
GRCh38: 1:94051698-94051698
3 ABCA4 NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) INSERT Pathogenic
7887 rs61750064 GRCh37: 1:94508434-94508435
GRCh38: 1:94042878-94042879
4 ABCA4 NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
7892 rs28938473 GRCh37: 1:94473287-94473287
GRCh38: 1:94007731-94007731
5 ABCA4 NM_000350.3(ABCA4):c.1937+1G>A SNV Pathogenic
99104 rs61752401 GRCh37: 1:94528132-94528132
GRCh38: 1:94062576-94062576
6 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) DEL Pathogenic
99419 rs61751389 GRCh37: 1:94473278-94473278
GRCh38: 1:94007722-94007722
7 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) SNV Pathogenic
Likely Pathogenic
99224 rs1801269 GRCh37: 1:94506901-94506901
GRCh38: 1:94041345-94041345
8 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) SNV Pathogenic
Pathogenic
Pathogenic/Likely Pathogenic
7907 rs61751383 GRCh37: 1:94471056-94471056
GRCh38: 1:94005500-94005500
9 ABCA4 NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) SNV Pathogenic
Pathogenic/Likely Pathogenic
99303 rs61750152 GRCh37: 1:94490567-94490567
GRCh38: 1:94025011-94025011
10 ABCA4 NM_000350.3(ABCA4):c.834del (p.Asp279fs) DEL Pathogenic
812208 rs779743222 GRCh37: 1:94548932-94548932
GRCh38: 1:94083376-94083376
11 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic
98713 rs281865373 GRCh37: 6:42672100-42672100
GRCh38: 6:42704362-42704362
12 ABCA4 NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) DEL Pathogenic
99026 rs63749083 GRCh37: 1:94546095-94546108
GRCh38: 1:94080539-94080552
13 ABCA4 NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro) SNV Pathogenic
812197 rs1571252997 GRCh37: 1:94480179-94480179
GRCh38: 1:94014623-94014623
14 ABCA4 NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) SNV Pathogenic
Likely Pathogenic
99321 rs61750155 GRCh37: 1:94487251-94487251
GRCh38: 1:94021695-94021695
15 ABCA4 NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) SNV Pathogenic
Pathogenic/Likely Pathogenic
99283 rs61750145 GRCh37: 1:94495083-94495083
GRCh38: 1:94029527-94029527
16 PRPH2 NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) SNV Pathogenic
425378 rs986748364 GRCh37: 6:42672278-42672278
GRCh38: 6:42704540-42704540
17 TULP1 NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter) SNV Pathogenic
813100 rs1761021773 GRCh37: 6:35471537-35471537
GRCh38: 6:35503760-35503760
18 ABCA4 NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) SNV Pathogenic
623692 rs1557770154 GRCh37: 1:94490546-94490546
GRCh38: 1:94024990-94024990
19 ABCA4 NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) SNV Pathogenic
806159 rs1208195953 GRCh37: 1:94474368-94474368
GRCh38: 1:94008812-94008812
20 ABCA4 NM_000350.3(ABCA4):c.6816+2T>A SNV Pathogenic
424900 rs112005636 GRCh37: 1:94461663-94461663
GRCh38: 1:93996107-93996107
21 PRPH2 NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) SNV Pathogenic
98703 rs61755814 GRCh37: 6:42672216-42672216
GRCh38: 6:42704478-42704478
22 PRPH2 NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) SNV Pathogenic
13170 rs61755792 GRCh37: 6:42689559-42689559
GRCh38: 6:42721821-42721821
23 PRPH2 NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV Pathogenic
13167 rs61755793 GRCh37: 6:42689558-42689558
GRCh38: 6:42721820-42721820
24 ABCA4 NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) SNV Pathogenic
99263 rs61750137 GRCh37: 1:94496571-94496571
GRCh38: 1:94031015-94031015
25 ABCA4 NM_000350.3(ABCA4):c.4128+1G>A SNV Pathogenic
1342853 GRCh37: 1:94497333-94497333
GRCh38: 1:94031777-94031777
26 ABCA4 NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) SNV Pathogenic
99260 rs61750135 GRCh37: 1:94496583-94496583
GRCh38: 1:94031027-94031027
27 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) SNV Pathogenic
Pathogenic
Pathogenic/Likely Pathogenic
7882 rs61751408 GRCh37: 1:94471065-94471065
GRCh38: 1:94005509-94005509
28 ABCA4 NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) SNV Pathogenic
Pathogenic/Likely Pathogenic
99330 rs61751404 GRCh37: 1:94486896-94486896
GRCh38: 1:94021340-94021340
29 ABCA4 NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) SNV Pathogenic
Likely Pathogenic
7880 rs58331765 GRCh37: 1:94512602-94512602
GRCh38: 1:94047046-94047046
30 ABCA4 NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) SNV Pathogenic
99288 rs61751402 GRCh37: 1:94495071-94495071
GRCh38: 1:94029515-94029515
31 ABCA4 NM_000350.3(ABCA4):c.1239+1G>C SNV Pathogenic
236079 rs765707028 GRCh37: 1:94544877-94544877
GRCh38: 1:94079321-94079321
32 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) SNV Pathogenic
Pathogenic
Likely Pathogenic
99431 rs61753038 GRCh37: 1:94471026-94471026
GRCh38: 1:94005470-94005470
33 PRPH2 NM_000322.5(PRPH2):c.394del (p.Gln132fs) DEL Pathogenic
684461 rs769723975 GRCh37: 6:42689679-42689679
GRCh38: 6:42721941-42721941
34 PRPH2 NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) SNV Pathogenic
866925 rs61755813 GRCh37: 6:42672223-42672223
GRCh38: 6:42704485-42704485
35 PRPH2 NM_000322.5(PRPH2):c.113del (p.Gly38fs) DEL Pathogenic
13177 rs61755769 GRCh37: 6:42689960-42689960
GRCh38: 6:42722222-42722222
36 CRB1 NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) SNV Pathogenic
521051 rs564754426 GRCh37: 1:197404165-197404165
GRCh38: 1:197435035-197435035
37 ABCA4 NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) DEL Pathogenic
99478 rs63749055 GRCh37: 1:94564440-94564452
GRCh38: 1:94098884-94098896
38 ABCA4 NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) SNV Pathogenic
236080 rs886044725 GRCh37: 1:94544209-94544209
GRCh38: 1:94078653-94078653
39 ABCA4 NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) SNV Pathogenic
Pathogenic
236096 rs201471607 GRCh37: 1:94512499-94512499
GRCh38: 1:94046943-94046943
40 ABCA4 NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) SNV Pathogenic
488674 rs765429911 GRCh37: 1:94574256-94574256
GRCh38: 1:94108700-94108700
41 ABCA4 NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) SNV Pathogenic
99240 rs61752425 GRCh37: 1:94502706-94502706
GRCh38: 1:94037150-94037150
42 ABCA4 NM_000350.3(ABCA4):c.5196+1G>A SNV Pathogenic
99351 rs61751377 GRCh37: 1:94485137-94485137
GRCh38: 1:94019581-94019581
43 ABCA4 NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) SNV Pathogenic
236106 rs746541266 GRCh37: 1:94497591-94497591
GRCh38: 1:94032035-94032035
44 ABCA4 NM_000350.3(ABCA4):c.4773+3A>G SNV Pathogenic
236122 rs759672616 GRCh37: 1:94487399-94487399
GRCh38: 1:94021843-94021843
45 ABCA4 NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) SNV Pathogenic
Likely Pathogenic
99311 rs1762111 GRCh37: 1:94487490-94487490
GRCh38: 1:94021934-94021934
46 ABCA4 NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) SNV Pathogenic
99305 rs62645957 GRCh37: 1:94586557-94586557
GRCh38: 1:94121001-94121001
47 ABCA4 NM_000350.3(ABCA4):c.67-1G>C SNV Pathogenic
236069 rs778908435 GRCh37: 1:94578623-94578623
GRCh38: 1:94113067-94113067
48 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic
Pathogenic/Likely Pathogenic
99505 rs62645944 GRCh37: 1:94564350-94564350
GRCh38: 1:94098794-94098794
49 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) SNV Pathogenic
Pathogenic
Pathogenic/Likely Pathogenic
7898 rs61750200 GRCh37: 1:94564484-94564484
GRCh38: 1:94098928-94098928
50 ABCA4 NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) SNV Pathogenic
Pathogenic/Likely Pathogenic
99331 rs61751403 GRCh37: 1:94486895-94486895
GRCh38: 1:94021339-94021339

Copy number variations for Stargardt Disease from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13317 1 1 117600000 Microdeletion ABCA4 Stargardt''s disease

Expression for Stargardt Disease

Search GEO for disease gene expression data for Stargardt Disease.

Pathways for Stargardt Disease

GO Terms for Stargardt Disease

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.9 TULP1 RPGR RHO PRPH2 PROM1 GPHN
2 photoreceptor outer segment membrane GO:0042622 9.73 RHO PROM1 GNAT2
3 photoreceptor inner segment GO:0001917 9.73 CRB1 GNAT2 PRPH2 RDH12 RHO TULP1
4 photoreceptor inner segment membrane GO:0060342 9.62 RHO RDH12
5 photoreceptor outer segment GO:0001750 9.62 TULP1 RPGR RHO PRPH2 PROM1 GNAT2

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 10.03 TULP1 RHO RDH12 PROM1 CRB1 ABCA4
2 detection of light stimulus involved in visual perception GO:0050908 9.93 BEST1 CRB1 EYS GNAT2 PRPH2 TULP1
3 retina development in camera-type eye GO:0060041 9.87 TULP1 RHO PRPH2 CRB1
4 response to stimulus GO:0050896 9.77 TULP1 RPGR RHO RDH12 PRPH2 GNAT2
5 visual perception GO:0007601 9.7 ABCA4 BEST1 CNGB3 COL2A1 CRB1 CRX
6 phototransduction, visible light GO:0007603 9.67 RHO ABCA4
7 retina morphogenesis in camera-type eye GO:0060042 9.58 PROM1 CRB1

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

# Name GO ID Score Top Affiliating Genes
1 11-cis retinal binding GO:0005502 9.26 RHO ABCA4
2 G protein-coupled photoreceptor activity GO:0008020 9.1 RHO GNAT2 ELOVL4

Sources for Stargardt Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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