MCID: STR022
MIFTS: 59

Stargardt Disease

Categories: Rare diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease 41 38 12 76 53 59 37 29 6 15 40
Stargardt Disease 1 12 73
Juvenile Onset Macular Degeneration 53
Stargardt Macular Dystrophy 53
Stargardt Disease, Type 1 40
Fundus Flavimaculatus 59
Stargardt Disease-1 41
Stargardt 1 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050817
Orphanet 59 ORPHA827
UMLS via Orphanet 74 C0271093 C1855465
ICD10 via Orphanet 34 H35.5
KEGG 37 H00819
UMLS 73 C1855465

Summaries for Stargardt Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Stargardt Disease, also known as stargardt disease 1, is related to stargardt disease 1 and stargardt macular degeneration. 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 Vitamin A and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are reduced visual acuity and abnormality of color vision

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

Wikipedia : 76 Stargardt disease is the most common inherited retinal disease. It usually has an autosomal recessive... 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 53)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 1 33.3 ABCA4 CNGB3 ELOVL4 GNAT2 MFSD8 RHO
2 stargardt macular degeneration 31.4 ABCA4 ELOVL4 PRPH2 RHO RIMS1
3 retinitis 30.8 PRPH2 RHO RPGR
4 congenital stationary night blindness 29.6 ABCA4 CNGB3 RHO RPE65
5 macular degeneration, age-related, 1 28.9 ABCA4 CRB1 ELOVL4 PRPH2 RDH8 RHO
6 retinal degeneration 28.6 ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
7 cone-rod dystrophy 2 27.8 ABCA4 CNGB3 CRB1 GNAT2 PROM1 PRPH2
8 retinal disease 27.4 ABCA4 CNGB3 CRB1 ELOVL4 MYO7A PRPH2
9 retinitis pigmentosa 25.1 ABCA4 CRB1 ELOVL4 LRAT MERTK MFSD8
10 fundus dystrophy 24.1 ABCA4 CNGB3 CRB1 ELOVL4 GNAT2 LRAT
11 leber congenital amaurosis 23.5 ABCA4 CNGB3 CRB1 ELOVL4 LRAT MERTK
12 stargardt disease 4 12.3
13 stargardt disease 3 12.3
14 multifocal pattern dystrophy simulating fundus flavimaculatus 10.9
15 hereditary night blindness 10.9
16 oligocone trichromacy 10.7 CNGB3 GNAT2
17 achromatopsia 4 10.7 CNGB3 GNAT2
18 jalili syndrome 10.7 CNGB3 GNAT2
19 peripheral retinal degeneration 10.6 PRPH2 RPGR
20 retinitis pigmentosa 25 10.6 ELOVL4 RIMS1
21 cone-rod dystrophy 6 10.5 CNGB3 GNAT2 RPGR
22 choroid disease 10.4 CNGB3 RPE65 RPGR
23 bestrophinopathy 10.4 PRPH2 RPE65
24 retinitis pigmentosa 44 10.4 CNGB3 RDH12 RPGR
25 prolonged electroretinal response suppression 10.4 ABCA4 CRB1 PROM1 PRPH2
26 hereditary choroidal atrophy 10.4 PROM1 PRPH2 RIMS1
27 partial central choroid dystrophy 10.4 PROM1 PRPH2 RIMS1
28 aging 10.4
29 leber congenital amaurosis 9 10.3 CRB1 RDH12 RPE65
30 leber congenital amaurosis 4 10.3
31 severe early-childhood-onset retinal dystrophy 10.3 ABCA4 LRAT RPE65
32 colorblindness, partial, protan series 10.3 CNGB3 RHO
33 retinoschisis 1, x-linked, juvenile 10.3 CNGB3 CRB1 RPE65 RPGR
34 achromatopsia 3 10.2 CNGB3 CRB1 GNAT2 RPE65
35 choroiditis 10.2
36 fundus albipunctatus 10.2 PRPH2 RHO RPE65
37 achromatopsia 10.2 CNGB3 GNAT2 RPE65 RPGR
38 red-green color blindness 10.2 ABCA4 CNGB3 RHO RPE65
39 retinitis pigmentosa 38 10.1 MERTK RPE65
40 optic disk drusen 10.1 CRB1 RHO
41 degeneration of macula and posterior pole 10.1 ABCA4 ELOVL4 RHO RPE65
42 usher syndrome, type iid 10.1 MYO7A RHO RPGR
43 choroidal dystrophy, central areolar, 1 9.9 PRPH2 RIMS1
44 macular holes 9.9
45 scotoma 9.9
46 macular dystrophy, concentric annular 9.7
47 retinoblastoma 9.7
48 choroideremia 9.7
49 occult macular dystrophy 9.7
50 night blindness 9.7

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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 59 32 obligate (100%) Obligate (100%) HP:0007663
2 abnormality of color vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000551
3 central scotoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000603
4 macular degeneration 59 32 hallmark (90%) Very frequent (99-80%) HP:0000608
5 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
6 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
7 paroxysmal involuntary eye movements 59 32 hallmark (90%) Very frequent (99-80%) HP:0007704
8 abnormality of macular pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008002
9 retinal thinning 59 32 hallmark (90%) Very frequent (99-80%) HP:0030329
10 aplasia/hypoplasia of the macula 59 32 frequent (33%) Frequent (79-30%) HP:0008059
11 yellow/white lesions of the macula 59 32 frequent (33%) Frequent (79-30%) HP:0030500
12 abnormality of the fovea 59 Very frequent (99-80%)
13 abnormality of the choroid 59 Very frequent (99-80%)
14 loss of retinal pigment epithelium 59 Very frequent (99-80%)
15 salt and pepper retinopathy 59 Very frequent (99-80%)
16 abnormal foveal morphology 32 hallmark (90%) HP:0000493
17 abnormal choroid morphology 32 hallmark (90%) HP:0000610
18 retinal pigment epithelial atrophy 32 hallmark (90%) HP:0007722
19 retinal pigment epithelial mottling 32 hallmark (90%) HP:0007814

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 MERTK
2 Decreased viability GR00221-A-1 10.1 MERTK RIMS1
3 Decreased viability GR00221-A-2 10.1 RIMS1
4 Decreased viability GR00221-A-3 10.1 RIMS1
5 Decreased viability GR00221-A-4 10.1 MERTK
6 Decreased viability GR00381-A-1 10.1 MYO7A LRAT
7 Decreased viability GR00402-S-2 10.1 SIGLEC10 MFSD8 MYO7A PROM1 PRPH2 ABCA4
8 no effect GR00402-S-1 9.62 SIGLEC10 MFSD8 MYO7A PROM1 PRPH2 ABCA4

MGI Mouse Phenotypes related to Stargardt Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 PROM1 ABCA4 CNGB3 PRPH2 CRB1 RDH12
2 cardiovascular system MP:0005385 9.91 PROM1 ABCA4 PRPH2 RDH8 GNAT2 RHO
3 pigmentation MP:0001186 9.77 PRPH2 CRB1 ELOVL4 RDH8 RHO MERTK
4 vision/eye MP:0005391 9.53 CNGB3 PRPH2 CRB1 RDH12 ELOVL4 RDH8

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
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 11103-57-4, 68-26-8 445354
2
acetic acid Approved, Nutraceutical Phase 2,Phase 1 64-19-7 176
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,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,Not Applicable
13
Hydroxychloroquine Approved 118-42-3 3652
14 Anti-Infective Agents
15 Antiparasitic Agents
16 Antiprotozoal Agents
17 Antimalarials
18 Antirheumatic Agents
19 Sunflower Nutraceutical Not Applicable

Interventional clinical trials:

(show all 31)
# 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 DHA Supplementation in Patients With STGD3 Completed NCT00420602 Not Applicable
17 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
18 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
19 Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene Recruiting NCT01145196
20 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
21 Natural History of Eye Diseases Related to ABCA4 Mutations Recruiting NCT01736293
22 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
23 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
24 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Active, not recruiting NCT02410122
25 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
26 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
27 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
28 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Not yet recruiting NCT03297515 Not Applicable
29 Objective Assessment of Macular Function at Retinal and Cortical Levels Not yet recruiting NCT03517241
30 Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine) Not yet recruiting NCT03180190 Hydroxychloroquine Oral Tablet
31 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 29

Anatomical Context for Stargardt Disease

MalaCards organs/tissues related to Stargardt Disease:

41
Eye, Retina, Testes, Cortex
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 267)
# Title Authors Year
1
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. ( 29925512 )
2018
2
Dual AAV Vectors for Stargardt Disease. ( 29188512 )
2018
3
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing. ( 29975949 )
2018
4
EDI OCT evaluation of choroidal thickness in Stargardt disease. ( 29304098 )
2018
5
A non-retinoid antagonist of Retinol-Binding Protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle. ( 29871924 )
2018
6
Visual Acuity Change Over 24 Months and its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10. ( 29902293 )
2018
7
Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1). ( 29940588 )
2018
8
Swept-source optical coherence tomography study of choroidal morphology in Stargardt disease. ( 29930450 )
2018
9
Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease. ( 29701254 )
2018
10
<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. ( 29162642 )
2018
11
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New <i>ABCA4</i> Mutations. ( 29736279 )
2018
12
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. ( 29526278 )
2018
13
Mutation Spectrum of the <i>ABCA4</i> Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles. ( 29854428 )
2018
14
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. ( 29971439 )
2018
15
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A&amp;gt;G and c.5461-10T&amp;gt;C cause Stargardt disease due to defective splicing. ( 29461686 )
2018
16
Longitudinal Changes of Fixation Location and Stability within 12 Months in Stargardt Disease: ProgStar Report No. 12. ( 29890160 )
2018
17
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes. ( 29848554 )
2018
18
Visual Cortex Activation in Patients With Stargardt Disease. ( 29625472 )
2018
19
Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review. ( 29846169 )
2018
20
Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease. ( 29860462 )
2018
21
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. ( 29847635 )
2018
22
Vitamin A in Stargardt disease-an evidence-based update. ( 29939824 )
2018
23
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease. ( 29126757 )
2018
24
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease. ( 28912967 )
2017
25
The Importance of Outcome Measure Research in Stargardt Disease. ( 28542669 )
2017
26
[Molecular genetic diagnosis of Stargardt disease]. ( 28980559 )
2017
27
CHOROIDAL STRUCTURAL CHANGES AND VASCULARITY INDEX IN STARGARDT DISEASE ON SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY. ( 29016459 )
2017
28
ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE. ( 28613213 )
2017
29
Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness. ( 28920007 )
2017
30
CHOROIDAL THICKNESS IN PATIENTS WITH STARGARDT DISEASE. ( 28198784 )
2017
31
Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy. ( 28738413 )
2017
32
Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence. ( 29038010 )
2017
33
Optical Coherence Tomography Angiography Findings in Stargardt Disease. ( 28151966 )
2017
34
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. ( 28355279 )
2017
35
Bis(monoacylglycero)phosphate lipids in the retinal pigment epithelium implicate lysosomal/endosomal dysfunction in a model of Stargardt disease and human retinas. ( 29229934 )
2017
36
Peripheral pigmented retinal lesions in Stargardt disease. ( 29288030 )
2017
37
Macular hole in Stargardt disease: Clinical and ultra-structural observation. ( 28121212 )
2017
38
Complement modulation in the retinal pigment epithelium rescues photoreceptor degeneration in a mouse model of Stargardt disease. ( 28348233 )
2017
39
HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE. ( 29028687 )
2017
40
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE. ( 28248825 )
2017
41
Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene. ( 29178665 )
2017
42
VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40. ( 29068916 )
2017
43
A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele? ( 28611652 )
2017
44
Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation. ( 29114839 )
2017
45
STARGARDT DISEASE: Beyond Flecks and Atrophy. ( 28099317 )
2017
46
Comparative analysis of autofluorescence and OCT angiography in Stargardt disease. ( 29074493 )
2017
47
Reading ability and quality of life in Stargardt disease. ( 28430335 )
2017
48
Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9). ( 29049437 )
2017
49
Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease. ( 28365912 )
2017
50
Stargardt disease-associated mutation spectrum of a Russian Federation cohort. ( 27939946 )
2017

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg) single nucleotide variant Pathogenic rs61753034 GRCh37 Chromosome 1, 94473283: 94473283
2 ABCA4 NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg) single nucleotide variant Pathogenic rs61753034 GRCh38 Chromosome 1, 94007727: 94007727
3 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
4 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh38 Chromosome 1, 94008767: 94008767
5 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
6 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh38 Chromosome 1, 94010795: 94010795
7 ABCA4 NM_000350.2(ABCA4): c.4253+5G> A single nucleotide variant Pathogenic rs61750138 GRCh38 Chromosome 1, 94030991: 94030991
8 ABCA4 NM_000350.2(ABCA4): c.4253+5G> A single nucleotide variant Pathogenic rs61750138 GRCh37 Chromosome 1, 94496547: 94496547

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:

37
# 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
12.46 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 11.47 CNGB3 GNAT2 LRAT RDH12 RDH8 RHO
5 11.27 LRAT RDH12 RDH8 RPE65
6
Show member pathways
10.91 ABCA4 LRAT MYO7A 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 9.91 ABCA4 CNGB3 MERTK PROM1 PRPH2 RDH8
2 microvillus GO:0005902 9.5 CRB1 MYO7A PROM1
3 photoreceptor disc membrane GO:0097381 9.4 ABCA4 RHO
4 photoreceptor outer segment membrane GO:0042622 9.33 GNAT2 PROM1 RHO
5 photoreceptor outer segment GO:0001750 9.28 ABCA4 CNGB3 GNAT2 MERTK MYO7A PROM1
6 photoreceptor inner segment membrane GO:0060342 9.26 RDH12 RHO
7 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 12)
# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.67 MERTK PRPH2 RHO RPE65
2 response to stimulus GO:0050896 9.65 ABCA4 CNGB3 GNAT2 LRAT RDH12 RDH8
3 photoreceptor cell maintenance GO:0045494 9.62 ABCA4 PROM1 RDH12 RHO
4 retinol metabolic process GO:0042572 9.56 LRAT RDH12 RDH8 RPE65
5 retinoid metabolic process GO:0001523 9.55 ABCA4 LRAT RDH12 RHO RPE65
6 eye photoreceptor cell development GO:0042462 9.51 CRB1 MYO7A
7 detection of light stimulus involved in visual perception GO:0050908 9.49 GNAT2 RPE65
8 sensory perception of light stimulus GO:0050953 9.48 MYO7A RHO
9 retina morphogenesis in camera-type eye GO:0060042 9.46 PROM1 RPE65
10 phototransduction, visible light GO:0007603 9.43 ABCA4 RHO
11 vitamin A metabolic process GO:0006776 9.4 LRAT RPE65
12 visual perception GO:0007601 9.4 ABCA4 CNGB3 GNAT2 LRAT MYO7A PRPH2

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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