MCID: STR022
MIFTS: 58

Stargardt Disease

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease 42 39 12 77 54 60 38 30 6 15 41
Stargardt Disease 1 12 74
Juvenile Onset Macular Degeneration 54
Stargardt Macular Dystrophy 54
Stargardt Disease, Type 1 41
Fundus Flavimaculatus 60
Stargardt Disease-1 42
Stargardt 1 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050817
KEGG 38 H00819
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C0271093 C1855465
Orphanet 60 ORPHA827
UMLS 74 C1855465

Summaries for Stargardt Disease

NIH Rare Diseases : 54 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 acetic acid and Vitamin A 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 visual evoked potentials

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

Wikipedia : 77 Stargardt disease is the most common inherited single gene retinal disease. It usually has an autosomal... 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 64)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 1 34.0 ABCA4 CNGB3 ELOVL4 GNAT2 MFSD8 RHO
2 stargardt macular degeneration 32.3 ABCA4 ELOVL4 PRPH2 RHO
3 bestrophinopathy 32.0 PRPH2 RPE65
4 retinitis 31.0 EYS PRPH2 RHO RPGR
5 macular degeneration, age-related, 1 30.5 ABCA4 CRB1 ELOVL4 PRPH2 RDH8 RHO
6 scotoma 30.3 ABCA4 EYS
7 cone-rod dystrophy 2 30.2 ABCA4 GNAT2 PROM1 PRPH2 RHO RPE65
8 congenital stationary night blindness 30.1 ABCA4 CNGB3 RHO RPE65
9 retinal degeneration 30.0 ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
10 retinal disease 29.0 ABCA4 CNGB3 CRB1 ELOVL4 MYO7A PRPH2
11 retinitis pigmentosa 28.8 ABCA4 CRB1 ELOVL4 EYS LRAT MFSD8
12 leber congenital amaurosis 28.0 ABCA4 CNGB3 CRB1 ELOVL4 LRAT MYO7A
13 stargardt disease 4 12.6
14 stargardt disease 3 12.5
15 multifocal pattern dystrophy simulating fundus flavimaculatus 11.1
16 oguchi disease 11.1
17 leber congenital amaurosis 4 10.5
18 oligocone trichromacy 10.4 CNGB3 GNAT2
19 achromatopsia 4 10.4 CNGB3 GNAT2
20 jalili syndrome 10.4 CNGB3 GNAT2
21 cone-rod dystrophy 8 10.4 ABCA4 CNGB3 GNAT2
22 cone-rod dystrophy 7 10.4 ABCA4 ELOVL4
23 cone-rod dystrophy 9 10.3 ABCA4 CNGB3 GNAT2
24 retinitis pigmentosa 25 10.3 ELOVL4 EYS
25 cone-rod dystrophy 6 10.3 CNGB3 GNAT2 RPGR
26 retinoschisis 1, x-linked, juvenile 10.3 CNGB3 CRB1 RPE65
27 peripheral retinal degeneration 10.3 PRPH2 RPGR
28 retinitis pigmentosa 44 10.3 CNGB3 RDH12 RPGR
29 prolonged electroretinal response suppression 10.3 ABCA4 CRB1 PROM1 PRPH2
30 pathologic nystagmus 10.3 CNGB3 GNAT2 RHO
31 cone dystrophy 10.2 CNGB3 RHO RPGR
32 leber congenital amaurosis 9 10.2 CRB1 RDH12 RPE65
33 degos 'en cocarde' erythrokeratoderma 10.2
34 retinitis pigmentosa 19 10.2 ABCA4 RHO
35 severe early-childhood-onset retinal dystrophy 10.2 ABCA4 LRAT RPE65
36 fundus albipunctatus 10.2 PRPH2 RHO RPE65
37 achromatopsia 3 10.2 CNGB3 CRB1 GNAT2 RPE65
38 red-green color blindness 10.2 ABCA4 CNGB3 RHO RPE65
39 colorblindness, partial, protan series 10.2 CNGB3 RHO
40 retinitis pigmentosa-deafness syndrome 10.2 MYO7A USH2A
41 degeneration of macula and posterior pole 10.2 ABCA4 ELOVL4 RHO RPE65
42 achromatopsia 10.2 CNGB3 GNAT2 RPE65 RPGR
43 choroid disease 10.2 CNGB3 RHO RPE65 RPGR
44 vitreoretinopathy, neovascular inflammatory 10.1
45 lymphoma 10.1
46 myopia 10.1
47 refractive error 10.1
48 usher syndrome, type iic 10.1 CRB1 MYO7A USH2A
49 usher syndrome, type i 10.1 MYO7A RHO USH2A
50 autosomal genetic disease 10.1 ABCA4 MYO7A USH2A

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:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 60 33 obligate (100%) Obligate (100%) HP:0007663
2 abnormality of visual evoked potentials 60 33 hallmark (90%) Very frequent (99-80%) HP:0000649
3 nyctalopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000662
4 abnormality of color vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000551
5 central scotoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000603
6 macular degeneration 60 33 hallmark (90%) Very frequent (99-80%) HP:0000608
7 paroxysmal involuntary eye movements 60 33 hallmark (90%) Very frequent (99-80%) HP:0007704
8 retinal pigment epithelial mottling 60 33 hallmark (90%) Very frequent (99-80%) HP:0007814
9 abnormality of macular pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008002
10 retinal thinning 60 33 hallmark (90%) Very frequent (99-80%) HP:0030329
11 abnormal choroid morphology 33 hallmark (90%) HP:0000610
12 retinal pigment epithelial atrophy 33 hallmark (90%) HP:0007722
13 abnormal foveal morphology 33 hallmark (90%) HP:0000493
14 aplasia/hypoplasia of the macula 60 33 frequent (33%) Frequent (79-30%) HP:0008059
15 yellow/white lesions of the macula 60 33 frequent (33%) Frequent (79-30%) HP:0030500
16 abnormality of the fovea 60 Very frequent (99-80%)
17 abnormality of the choroid 60 Very frequent (99-80%)
18 loss of retinal pigment epithelium 60 Very frequent (99-80%)

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCA4 CNGB3 CRB1 DR1 ELOVL4 EYS

MGI Mouse Phenotypes related to Stargardt Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 CNGB3 CRB1 ELOVL4 FAM53B GNAT2
2 pigmentation MP:0001186 9.73 ABCA4 CRB1 ELOVL4 MFSD8 MYO7A PROM1
3 vision/eye MP:0005391 9.53 ABCA4 CNGB3 CRB1 ELOVL4 GNAT2 LRAT

Drugs & Therapeutics for Stargardt Disease

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved Phase 2,Phase 1 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
3
Retinol acetate Phase 2,Phase 1 127-47-9 10245972
4 Retinol palmitate Phase 2,Phase 1
5 retinol Phase 2,Phase 1
6 Vitamins Phase 2,Phase 1
7 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2
8 Complement C5 Phase 2
9 Complement System Proteins Phase 2
10 Immunologic Factors Phase 2
11
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
12 Protective Agents Phase 1
13 Antidotes Phase 1
14 Omega 3 Fatty Acid Phase 1,Not Applicable
15
Hydroxychloroquine Approved 118-42-3 3652
16 Sunflower Not Applicable
17 Antiparasitic Agents
18 Antiprotozoal Agents
19 Antirheumatic Agents
20 Anti-Infective Agents
21 Antimalarials

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Emixustat in Stargardt Disease Recruiting NCT03772665 Phase 3 Emixustat;Placebo
2 Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
3 Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular Dystrophy Completed NCT01345006 Phase 1, Phase 2
4 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
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 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Active, not recruiting NCT03364153 Phase 2 Zimura
10 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
11 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
12 Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD) Unknown status NCT01625559 Phase 1
13 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole
14 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
15 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
16 Stem Cells Therapy in Degenerative Diseases of the Retina Enrolling by invitation NCT03772938 Phase 1
17 A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies Completed NCT01977846
18 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Completed NCT02410122
19 DHA Supplementation in Patients With STGD3 Completed NCT00420602 Not Applicable
20 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
21 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
22 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Recruiting NCT03297515 Not Applicable
23 Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene Recruiting NCT01145196
24 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
25 Natural History of Eye Diseases Related to ABCA4 Mutations Recruiting NCT01736293
26 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
27 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
28 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
29 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
30 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
31 Objective Assessment of Macular Function at Retinal and Cortical Levels Not yet recruiting NCT03517241
32 Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine) Not yet recruiting NCT03180190 Hydroxychloroquine Oral Tablet
33 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 30

Anatomical Context for Stargardt Disease

MalaCards organs/tissues related to Stargardt Disease:

42
Eye, Retina, Testes, Skin, 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 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 294)
# Title Authors Year
1
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt disease using en face OCT and OCT Angiography. ( 30771335 )
2019
2
Hyperreflective foci in Stargardt disease: 1-year follow-up. ( 30374616 )
2019
3
Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease. ( 30563929 )
2019
4
Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease. ( 30613916 )
2019
5
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. ( 30643219 )
2019
6
Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease. ( 30834176 )
2019
7
Visual rehabilitation using video game stimulation for Stargardt disease. ( 30886944 )
2019
8
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. ( 30889179 )
2019
9
High-Resolution Adaptive Optics in Vivo Autofluorescence Imaging in Stargardt Disease. ( 30896765 )
2019
10
The absence of fundus abnormalities in Stargardt disease. ( 30903310 )
2019
11
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. ( 29925512 )
2018
12
Dual AAV Vectors for Stargardt Disease. ( 29188512 )
2018
13
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing. ( 29975949 )
2018
14
EDI OCT evaluation of choroidal thickness in Stargardt disease. ( 29304098 )
2018
15
A non-retinoid antagonist of Retinol-Binding Protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle. ( 29871924 )
2018
16
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
17
Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1). ( 29940588 )
2018
18
Swept-source optical coherence tomography study of choroidal morphology in Stargardt disease. ( 29930450 )
2018
19
Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease. ( 29701254 )
2018
20
<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. ( 29162642 )
2018
21
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New <i>ABCA4</i> Mutations. ( 29736279 )
2018
22
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. ( 29526278 )
2018
23
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
24
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. ( 29971439 )
2018
25
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
26
Longitudinal Changes of Fixation Location and Stability within 12 Months in Stargardt Disease: ProgStar Report No. 12. ( 29890160 )
2018
27
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes. ( 29848554 )
2018
28
Visual Cortex Activation in Patients With Stargardt Disease. ( 29625472 )
2018
29
Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review. ( 29846169 )
2018
30
Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease. ( 29860462 )
2018
31
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. ( 29847635 )
2018
32
Vitamin A in Stargardt disease-an evidence-based update. ( 29939824 )
2018
33
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease. ( 29126757 )
2018
34
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. ( 30285522 )
2018
35
Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease. ( 30055151 )
2018
36
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. ( 30093795 )
2018
37
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1). ( 30110705 )
2018
38
Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study. ( 30140905 )
2018
39
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION. ( 30204727 )
2018
40
Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. ( 30480703 )
2018
41
Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. ( 30480704 )
2018
42
Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease. ( 30510854 )
2018
43
Stargardt Disease. ( 30578500 )
2018
44
Factors influencing the choice of low-vision devices for visual rehabilitation in Stargardt disease. ( 30582217 )
2018
45
Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles". ( 30647958 )
2018
46
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease. ( 28912967 )
2017
47
The Importance of Outcome Measure Research in Stargardt Disease. ( 28542669 )
2017
48
[Molecular genetic diagnosis of Stargardt disease]. ( 28980559 )
2017
49
CHOROIDAL STRUCTURAL CHANGES AND VASCULARITY INDEX IN STARGARDT DISEASE ON SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY. ( 29016459 )
2017
50
ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE. ( 28613213 )
2017

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28938473 GRCh37 Chromosome 1, 94473287: 94473287
2 ABCA4 NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28938473 GRCh38 Chromosome 1, 94007731: 94007731
3 ABCA4 NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg) single nucleotide variant Pathogenic rs61753034 GRCh37 Chromosome 1, 94473283: 94473283
4 ABCA4 NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg) single nucleotide variant Pathogenic rs61753034 GRCh38 Chromosome 1, 94007727: 94007727
5 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
6 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh38 Chromosome 1, 94008767: 94008767
7 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
8 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh38 Chromosome 1, 94010795: 94010795
9 ABCA4 NM_000350.2(ABCA4): c.4253+5G> A single nucleotide variant Pathogenic rs61750138 GRCh38 Chromosome 1, 94030991: 94030991
10 ABCA4 NM_000350.2(ABCA4): c.4253+5G> A single nucleotide variant Pathogenic rs61750138 GRCh37 Chromosome 1, 94496547: 94496547
11 CRB1 NM_201253.2(CRB1): c.3172G> T (p.Glu1058Ter) single nucleotide variant Pathogenic rs564754426 GRCh38 Chromosome 1, 197435035: 197435035
12 CRB1 NM_201253.2(CRB1): c.3172G> T (p.Glu1058Ter) single nucleotide variant Pathogenic rs564754426 GRCh37 Chromosome 1, 197404165: 197404165
13 CRB1 NM_201253.2(CRB1): c.849-26A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 197347314: 197347314
14 CRB1 NM_201253.2(CRB1): c.849-26A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 197316444: 197316444

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:

38
# Name Kegg Source Accession
1 ABC transporters hsa02010
2 Fatty acid elongation hsa00062
3 Biosynthesis of unsaturated fatty acids hsa01040

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 LRAT RDH12 RDH8 RHO RPE65
2
Show member pathways
12.13 ABCA4 LRAT MYO7A RDH12 RDH8 RHO
3
Show member pathways
11.99 CNGB3 GNAT2 LRAT RDH12 RHO RPE65
4 11.47 CNGB3 GNAT2 LRAT RDH12 RDH8 RHO
5 11.31 LRAT RDH12 RDH8 RPE65
6 11.06 CNGB3 GNAT2 LRAT RDH12 RDH8 RHO
7
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 apical plasma membrane GO:0016324 9.67 CRB1 MYO7A PROM1 USH2A
2 microvillus GO:0005902 9.5 CRB1 MYO7A PROM1
3 photoreceptor disc membrane GO:0097381 9.4 ABCA4 RHO
4 photoreceptor inner segment GO:0001917 9.35 CRB1 GNAT2 MYO7A RHO USH2A
5 photoreceptor outer segment membrane GO:0042622 9.33 GNAT2 PROM1 RHO
6 photoreceptor inner segment membrane GO:0060342 9.26 RDH12 RHO
7 photoreceptor outer segment GO:0001750 9.23 ABCA4 CNGB3 GNAT2 MYO7A PROM1 PRPH2

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

(show all 14)
# 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 9.65 PRPH2 RHO RPE65
3 retinoid metabolic process GO:0001523 9.65 ABCA4 LRAT RDH12 RHO RPE65
4 retinol metabolic process GO:0042572 9.62 LRAT RDH12 RDH8 RPE65
5 detection of light stimulus involved in visual perception GO:0050908 9.58 EYS GNAT2 RPE65
6 photoreceptor cell maintenance GO:0045494 9.55 ABCA4 PROM1 RDH12 RHO USH2A
7 response to light stimulus GO:0009416 9.54 RHO RPE65
8 sensory perception of light stimulus GO:0050953 9.54 MYO7A RHO USH2A
9 eye photoreceptor cell development GO:0042462 9.52 CRB1 MYO7A
10 retina morphogenesis in camera-type eye GO:0060042 9.51 PROM1 RPE65
11 phototransduction, visible light GO:0007603 9.49 ABCA4 RHO
12 inner ear receptor cell differentiation GO:0060113 9.46 MYO7A USH2A
13 visual perception GO:0007601 9.44 ABCA4 CNGB3 EYS GNAT2 LRAT MYO7A
14 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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