MCID: STR022
MIFTS: 58

Stargardt Disease

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease 38 37 12 72 72 49 55 36 28 14
Stargardt Disease 1 12 69
Juvenile Onset Macular Degeneration 49
Stargardt Macular Dystrophy 49
Fundus Flavimaculatus 55
Stargardt Disease-1 38
Stargardt 1 55

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050817
Orphanet 55 ORPHA827
UMLS via Orphanet 70 C0271093 C1855465
ICD10 via Orphanet 33 H35.5
KEGG 36 H00819
UMLS 69 C1855465

Summaries for Stargardt Disease

NIH Rare Diseases : 49 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 macular degeneration, and has symptoms including reduced visual acuity, abnormality of color vision and central scotoma. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are ABC transporters and Fatty acid elongation. The drugs acetic acid and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are nervous system and pigmentation

Disease Ontology : 12 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

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 51)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 1 33.7 ABCA4 CNGB3 ELOVL4 GNAT2 RHO
2 stargardt macular degeneration 31.6 ABCA4 ELOVL4 PRPH2 RHO RIMS1
3 retinitis 30.3 EYS PRPH2 RHO RPE65 RPGR
4 macular degeneration, age-related, 1 29.5 ABCA4 CRB1 ELOVL4 PRPH2 RDH8 RHO
5 congenital stationary night blindness 29.5 ABCA4 CNGB3 RHO RPE65 RPGR
6 retinal degeneration 29.2 ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
7 cone-rod dystrophy 2 28.8 ABCA4 CNGB3 CRB1 GNAT2 PROM1 PRPH2
8 retinitis pigmentosa 27.0 ABCA4 CRB1 ELOVL4 EYS LRAT MERTK
9 leber congenital amaurosis 26.4 ABCA4 CNGB3 CRB1 ELOVL4 LRAT MERTK
10 stargardt disease 4 12.3
11 stargardt disease 3 12.3
12 multifocal pattern dystrophy simulating fundus flavimaculatus 10.9
13 hereditary night blindness 10.9
14 oligocone trichromacy 10.4 CNGB3 GNAT2
15 achromatopsia 4 10.4 CNGB3 GNAT2
16 jalili syndrome 10.4 CNGB3 GNAT2
17 aging 10.4
18 cone-rod dystrophy 6 10.3 CNGB3 GNAT2 RPGR
19 leber congenital amaurosis 14 10.3 ABCA4 LRAT
20 peripheral retinal degeneration 10.3 PRPH2 RPGR
21 leber congenital amaurosis 4 10.3
22 retinitis pigmentosa 44 10.3 CNGB3 RDH12 RPGR
23 prolonged electroretinal response suppression 10.3 ABCA4 CRB1 PROM1 PRPH2
24 hereditary choroidal atrophy 10.3 PROM1 PRPH2 RIMS1
25 partial central choroid dystrophy 10.3 PROM1 PRPH2 RIMS1
26 leber congenital amaurosis 9 10.2 CRB1 RDH12 RPE65
27 severe early-childhood-onset retinal dystrophy 10.2 ABCA4 LRAT RPE65
28 choroiditis 10.2
29 yemenite deaf-blind hypopigmentation syndrome 10.2 ABCA4 MYO7A RPE65
30 retinoschisis 1, x-linked, juvenile 10.2 CNGB3 RIMS1 RPE65
31 achromatopsia 3 10.2 CNGB3 CRB1 GNAT2 RPE65
32 choroid disease 10.2 CNGB3 RPE65
33 fundus albipunctatus 10.1 PRPH2 RHO RPE65
34 achromatopsia 10.1 CNGB3 GNAT2 RPE65 RPGR
35 red-green color blindness 10.1 ABCA4 CNGB3 RHO RPE65
36 degeneration of macula and posterior pole 10.1 ABCA4 ELOVL4 RHO RPE65
37 usher syndrome, type iid 10.1 MYO7A RHO RPGR
38 retinitis pigmentosa 25 10.1 ELOVL4 EYS RIMS1
39 retinitis pigmentosa 38 10.0 MERTK RPE65
40 colorblindness, partial, protan series 10.0 CNGB3 RHO
41 macular holes 9.9
42 scotoma 9.9
43 retinoblastoma 9.7
44 choroideremia 9.7
45 retinitis pigmentosa 19 9.7
46 occult macular dystrophy 9.7
47 night blindness 9.7
48 ewing sarcoma 9.5 ABCA4 PROM1 RDH12 RDH8 RHO
49 retinal disease 9.0 ABCA4 CNGB3 CRB1 ELOVL4 MYO7A PRPH2
50 rhyns syndrome 8.7 ABCA4 CRB1 EYS MERTK PROM1 PRPH2

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:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 55 31 obligate (100%) Obligate (100%) HP:0007663
2 abnormality of color vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000551
3 central scotoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000603
4 macular degeneration 55 31 hallmark (90%) Very frequent (99-80%) HP:0000608
5 abnormality of visual evoked potentials 55 31 hallmark (90%) Very frequent (99-80%) HP:0000649
6 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
7 paroxysmal involuntary eye movements 55 31 hallmark (90%) Very frequent (99-80%) HP:0007704
8 abnormality of macular pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008002
9 retinal thinning 55 31 hallmark (90%) Very frequent (99-80%) HP:0030329
10 aplasia/hypoplasia of the macula 55 31 frequent (33%) Frequent (79-30%) HP:0008059
11 yellow/white lesions of the macula 55 31 frequent (33%) Frequent (79-30%) HP:0030500
12 abnormality of the fovea 55 Very frequent (99-80%)
13 abnormality of the choroid 55 Very frequent (99-80%)
14 loss of retinal pigment epithelium 55 Very frequent (99-80%)
15 salt and pepper retinopathy 55 Very frequent (99-80%)
16 abnormal foveal morphology 31 hallmark (90%) HP:0000493
17 abnormal choroid morphology 31 hallmark (90%) HP:0000610
18 retinal pigment epithelial atrophy 31 hallmark (90%) HP:0007722
19 retinal pigment epithelial mottling 31 hallmark (90%) HP:0007814

MGI Mouse Phenotypes related to Stargardt Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 PRPH2 RDH12 ABCA4 RDH8 CNGB3 RHO
2 pigmentation MP:0001186 9.73 ABCA4 RDH8 RHO CRB1 RPE65 ELOVL4
3 vision/eye MP:0005391 9.5 RDH12 ABCA4 RDH8 CNGB3 RHO CRB1

Drugs & Therapeutics for Stargardt Disease

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved, Nutraceutical Phase 2,Phase 1 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 68-26-8, 11103-57-4 445354
3
Retinol acetate Phase 2,Phase 1 127-47-9 10245972
4 Retinol palmitate Phase 2,Phase 1
5 Vitamins Phase 2,Phase 1
6 Complement System Proteins Phase 2
7 Pharmaceutical Solutions Phase 1, Phase 2
8 retinol Nutraceutical Phase 2,Phase 1
9
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
10 Antidotes Phase 1
11 Protective Agents Phase 1
12 Omega 3 Fatty Acid Nutraceutical Phase 1
13
Hydroxychloroquine Approved 118-42-3 3652
14 Anti-Infective Agents
15 Antimalarials
16 Antiparasitic Agents
17 Antiprotozoal Agents
18 Antirheumatic Agents
19 Sunflower Nutraceutical

Interventional clinical trials:

(show all 30)

# Name Status NCT ID Phase Drugs
1 Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
2 Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular Dystrophy Completed NCT01345006 Phase 1, Phase 2
3 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
4 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Recruiting NCT03364153 Phase 2 Zimura
5 Phase I/II Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01367444 Phase 1, Phase 2 SAR422459
6 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
7 Phase I/II Follow-up Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01736592 Phase 1, Phase 2 SAR422459 administered in previous study TDU13583
8 Stem Cell Therapy for Outer Retinal Degenerations Recruiting NCT02903576 Phase 1, Phase 2
9 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
10 Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration Diseases Active, not recruiting NCT02749734 Phase 1, Phase 2
11 Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD) Unknown status NCT01625559 Phase 1
12 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole
13 Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy Completed NCT00060749 Phase 1 Docosahexaenoic Acid (DHA) Dietary Supplement
14 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
15 A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies Completed NCT01977846
16 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
17 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
18 Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene Recruiting NCT01145196
19 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
20 Natural History of Eye Diseases Related to ABCA4 Mutations Recruiting NCT01736293
21 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
22 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Active, not recruiting NCT02410122
24 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
25 A 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 recruiting NCT02941991
26 DHA Supplementation in Patients With STGD3 Active, not recruiting NCT00420602
27 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
28 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Not yet recruiting NCT03297515
29 Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine) Not yet recruiting NCT03180190 Hydroxychloroquine Oral Tablet
30 Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766

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

Genetic tests related to Stargardt Disease:

# Genetic test Affiliating Genes
1 Stargardt Disease 28

Anatomical Context for Stargardt Disease

MalaCards organs/tissues related to Stargardt Disease:

38
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:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Publications for Stargardt Disease

Articles related to Stargardt Disease:

(show top 50) (show all 247)
# Title Authors Year
1
EDI OCT evaluation of choroidal thickness in Stargardt disease. ( 29304098 )
2018
2
Dual AAV Vectors for Stargardt Disease. ( 29188512 )
2018
3
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease. ( 29126757 )
2018
4
<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. ( 29162642 )
2018
5
Bis(monoacylglycero)phosphate lipids in the retinal pigment epithelium implicate lysosomal/endosomal dysfunction in a model of Stargardt disease and human retinas. ( 29229934 )
2017
6
Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy. ( 28738413 )
2017
7
The Importance of Outcome Measure Research in Stargardt Disease. ( 28542669 )
2017
8
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. ( 28118664 )
2017
9
STARGARDT DISEASE: Beyond Flecks and Atrophy. ( 28099317 )
2017
10
Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5. ( 28542697 )
2017
11
Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence. ( 29038010 )
2017
12
Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease. ( 28365912 )
2017
13
ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE. ( 28613213 )
2017
14
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. ( 28290600 )
2017
15
Novel therapeutics for Stargardt disease. ( 28285324 )
2017
16
HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE. ( 29028687 )
2017
17
VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40. ( 29068916 )
2017
18
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE. ( 28248825 )
2017
19
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. ( 28355279 )
2017
20
A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease. ( 29049723 )
2017
21
Optical Coherence Tomography Angiography Findings in Stargardt Disease. ( 28151966 )
2017
22
Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6. ( 28549516 )
2017
23
CHOROIDAL THICKNESS IN PATIENTS WITH STARGARDT DISEASE. ( 28198784 )
2017
24
Complement modulation in the retinal pigment epithelium rescues photoreceptor degeneration in a mouse model of Stargardt disease. ( 28348233 )
2017
25
Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9). ( 29049437 )
2017
26
Comparative analysis of autofluorescence and OCT angiography in Stargardt disease. ( 29074493 )
2017
27
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease. ( 28912967 )
2017
28
Stargardt disease-associated mutation spectrum of a Russian Federation cohort. ( 27939946 )
2017
29
Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness. ( 28920007 )
2017
30
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease. ( 28288486 )
2017
31
Morpho-functional analysis of Stargardt Disease for reading. ( 28576211 )
2017
32
Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene. ( 29178665 )
2017
33
Peripheral pigmented retinal lesions in Stargardt disease. ( 29288030 )
2017
34
A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele? ( 28611652 )
2017
35
Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation. ( 29114839 )
2017
36
CHOROIDAL STRUCTURAL CHANGES AND VASCULARITY INDEX IN STARGARDT DISEASE ON SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY. ( 29016459 )
2017
37
Reading ability and quality of life in Stargardt disease. ( 28430335 )
2017
38
Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7. ( 28542693 )
2017
39
Macular hole in Stargardt disease: Clinical and ultra-structural observation. ( 28121212 )
2017
40
Residual visual function in a man with a large subfoveal outer retinal tubulation in late-onset Stargardt disease. ( 26949114 )
2016
41
Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography. ( 27628426 )
2016
42
Asymmetric Inter-Eye Progression in Stargardt Disease. ( 28002570 )
2016
43
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease. ( 26981328 )
2016
44
COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE. ( 26583307 )
2016
45
Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? ( 26427432 )
2016
46
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10Ta89C Mutation in Stargardt Disease. ( 26976702 )
2016
47
MAPPING THE DENSE SCOTOMA AND ITS ENLARGEMENT IN STARGARDT DISEASE. ( 26909568 )
2016
48
Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial. ( 27730010 )
2016
49
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families. ( 27739528 )
2016
50
Progression of Late-Onset Stargardt Disease. ( 27699414 )
2016

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh37 Chromosome 1, 94508999: 94508999
2 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
3 ABCA4 NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61749438 GRCh37 Chromosome 1, 94520689: 94520689
4 ABCA4 NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys) single nucleotide variant Pathogenic rs61750061 GRCh37 Chromosome 1, 94508976: 94508976
5 ABCA4 NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs) insertion Pathogenic rs61750064 GRCh37 Chromosome 1, 94508434: 94508435
6 ABCA4 NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg) single nucleotide variant Pathogenic rs61753034 GRCh37 Chromosome 1, 94473283: 94473283
7 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
8 ABCA4 NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp) single nucleotide variant Pathogenic rs61748548 GRCh37 Chromosome 1, 94546115: 94546115
9 ABCA4 ABCA4, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
10 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
11 ABCA4 NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909205 GRCh37 Chromosome 1, 94586550: 94586550
12 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
13 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
14 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh37 Chromosome 1, 94481322: 94481322
15 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
16 ABCA4 NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala) single nucleotide variant Pathogenic rs121909207 GRCh37 Chromosome 1, 94480221: 94480221
17 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
18 ABCA4 NM_000350.2(ABCA4): c.2461T> C (p.Trp821Arg) single nucleotide variant Pathogenic rs61749433 GRCh38 Chromosome 1, 94055237: 94055237
19 ABCA4 NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs61751399 GRCh37 Chromosome 1, 94506923: 94506923
20 ABCA4 NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750120 GRCh37 Chromosome 1, 94508323: 94508323
21 ABCA4 NM_000350.2(ABCA4): c.4540-2A> G single nucleotide variant Pathogenic rs61752435 GRCh37 Chromosome 1, 94490606: 94490606
22 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
23 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
24 ABCA4 NM_000350.2(ABCA4): c.122G> A (p.Trp41Ter) single nucleotide variant Pathogenic rs61751410 GRCh37 Chromosome 1, 94578567: 94578567
25 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
26 ABCA4 NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
27 ABCA4 NM_000350.2(ABCA4): c.1760+2T> G single nucleotide variant Pathogenic rs61751385 GRCh37 Chromosome 1, 94528666: 94528666
28 ABCA4 NM_000350.2(ABCA4): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61749409 GRCh37 Chromosome 1, 94528266: 94528266
29 ABCA4 NM_000350.2(ABCA4): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs61749414 GRCh37 Chromosome 1, 94528167: 94528167
30 ABCA4 NM_000350.2(ABCA4): c.1937+1G> A single nucleotide variant Pathogenic rs61752401 GRCh37 Chromosome 1, 94528132: 94528132
31 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh37 Chromosome 1, 94526316: 94526316
32 ABCA4 NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic/Likely pathogenic rs62654395 GRCh37 Chromosome 1, 94577102: 94577102
33 ABCA4 NM_000350.2(ABCA4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs201738997 GRCh37 Chromosome 1, 94586601: 94586601
34 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212
35 ABCA4 NM_000350.2(ABCA4): c.2300T> A (p.Val767Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61751395 GRCh37 Chromosome 1, 94522239: 94522239
36 ABCA4 NM_000350.2(ABCA4): c.2564G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61752406 GRCh37 Chromosome 1, 94520690: 94520690
37 ABCA4 NM_000350.2(ABCA4): c.296dupA (p.Asn99Lysfs) duplication Pathogenic rs62645948 GRCh37 Chromosome 1, 94577000: 94577000
38 ABCA4 NM_000350.2(ABCA4): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs61751397 GRCh37 Chromosome 1, 94508997: 94508997
39 ABCA4 NM_000350.2(ABCA4): c.3808G> T (p.Glu1270Ter) single nucleotide variant Pathogenic rs61752425 GRCh37 Chromosome 1, 94502706: 94502706
40 ABCA4 NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys) single nucleotide variant Pathogenic/Likely pathogenic rs62642573 GRCh37 Chromosome 1, 94496610: 94496610
41 ABCA4 NM_000350.2(ABCA4): c.4234C> T (p.Gln1412Ter) single nucleotide variant Pathogenic rs61750137 GRCh37 Chromosome 1, 94496571: 94496571
42 ABCA4 NM_000350.2(ABCA4): c.4253+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs61750138 GRCh37 Chromosome 1, 94496547: 94496547
43 ABCA4 NM_000350.2(ABCA4): c.4457C> T (p.Pro1486Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61750145 GRCh37 Chromosome 1, 94495083: 94495083
44 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh37 Chromosome 1, 94495078: 94495078
45 ABCA4 NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs61751402 GRCh37 Chromosome 1, 94495071: 94495071
46 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) duplication Pathogenic/Likely pathogenic rs281865377 GRCh37 Chromosome 1, 94495003: 94495003
47 ABCA4 NM_000350.2(ABCA4): c.454C> T (p.Arg152Ter) single nucleotide variant Pathogenic rs62646861 GRCh37 Chromosome 1, 94568687: 94568687
48 ABCA4 NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 GRCh37 Chromosome 1, 94490567: 94490567
49 ABCA4 NM_000350.2(ABCA4): c.4594G> A (p.Asp1532Asn) single nucleotide variant Pathogenic/Likely pathogenic rs62642574 GRCh37 Chromosome 1, 94490550: 94490550
50 ABCA4 NM_000350.2(ABCA4): c.45G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs62645957 GRCh37 Chromosome 1, 94586557: 94586557

Expression for Stargardt Disease

Search GEO for disease gene expression data for Stargardt Disease.

Pathways for Stargardt Disease

Pathways related to Stargardt Disease according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010
2 Fatty acid elongation hsa00062

Pathways related to Stargardt Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 LRAT RDH12 RDH8 RHO RPE65
2
Show member pathways
12.03 ABCA4 LRAT MYO7A RDH12 RDH8 RHO
3
Show member pathways
11.93 CNGB3 GNAT2 LRAT RDH12 RHO RPE65
4 11.27 LRAT RDH12 RDH8 RPE65
5
Show member pathways
10.91 ABCA4 LRAT MYO7A RDH12 RDH8 RHO
6 10.86 CNGB3 GNAT2 LRAT RDH12 RDH8 RHO

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 integral component of plasma membrane GO:0005887 9.87 ABCA4 CNGB3 MERTK PROM1 PRPH2 RDH8
2 photoreceptor disc membrane GO:0097381 9.37 ABCA4 RHO
3 photoreceptor outer segment membrane GO:0042622 9.33 GNAT2 PROM1 RHO
4 photoreceptor outer segment GO:0001750 9.28 ABCA4 CNGB3 GNAT2 MERTK MYO7A PROM1
5 photoreceptor inner segment membrane GO:0060342 9.26 RDH12 RHO
6 photoreceptor inner segment GO:0001917 9.26 CRB1 GNAT2 MYO7A RHO

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.7 ABCA4 CNGB3 EYS GNAT2 LRAT RDH12
2 retina development in camera-type eye GO:0060041 9.67 MERTK PRPH2 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.62 ABCA4 PROM1 RDH12 RHO
4 detection of light stimulus involved in visual perception GO:0050908 9.58 EYS GNAT2 RPE65
5 retinol metabolic process GO:0042572 9.56 LRAT RDH12 RDH8 RPE65
6 retinoid metabolic process GO:0001523 9.55 ABCA4 LRAT RDH12 RHO RPE65
7 response to light stimulus GO:0009416 9.52 RHO RPE65
8 eye photoreceptor cell development GO:0042462 9.51 CRB1 MYO7A
9 sensory perception of light stimulus GO:0050953 9.49 MYO7A RHO
10 retina morphogenesis in camera-type eye GO:0060042 9.48 PROM1 RPE65
11 phototransduction, visible light GO:0007603 9.46 ABCA4 RHO
12 visual perception GO:0007601 9.44 ABCA4 CNGB3 EYS GNAT2 LRAT MYO7A
13 vitamin A metabolic process GO:0006776 9.43 LRAT RPE65

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

# Name GO ID Score Top Affiliating Genes
1 retinol dehydrogenase activity GO:0004745 9.16 RDH12 RDH8
2 NADP-retinol dehydrogenase activity GO:0052650 8.96 RDH12 RDH8
3 G-protein coupled photoreceptor activity GO:0008020 8.8 ELOVL4 GNAT2 RHO

Sources for Stargardt Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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