MCID: STR022
MIFTS: 56

Stargardt Disease

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease 39 38 12 50 24 56 29 14
Stargardt Disease 1 12 69
Juvenile Onset Macular Degeneration 50
Stargardt Macular Dystrophy 50
Fundus Flavimaculatus 56
Stargardt Disease-1 39
Stargardt 1 56

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050817
Orphanet 56 ORPHA827
UMLS via Orphanet 70 C0271093 C1855465
ICD10 via Orphanet 34 H35.5

Summaries for Stargardt Disease

NIH Rare Diseases : 50 stargardt disease is a genetic eye disorder that causes progressive vision loss. it affects the macula, an area of the retina responsible for sharp, central vision. vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. people with stargardt disease also have problems with night vision, and some have problems with color vision. the signs and symptoms of stargardt disease typically appear in late childhood to early adulthood and worsen over time. it is most commonly caused by mutations in the abca4 gene and inherited in an autosomal recessive manner. rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. there is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence. last updated: 3/7/2016

MalaCards based summary : Stargardt Disease, also known as stargardt disease 1, is related to stargardt disease 1 and stargardt disease 4, and has symptoms including reduced visual acuity, macular degeneration 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 Drug metabolism - cytochrome P450 and Metabolism of fat-soluble vitamins. 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.

Wikipedia : 72 Stargardt disease, or fundus flavimaculatus, is the most frequent form of inherited juvenile macular... more...

Related Diseases for Stargardt Disease

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 4
Stargardt Disease 3 Stargardt Disease, Autosomal Recessive
Abca4-Related Stargardt Disease 1 Cngb3-Related Stargardt Disease 1

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

(show top 50) (show all 62)
id Related Disease Score Top Affiliating Genes
1 stargardt disease 1 33.0 ABCA4 CNGB3 ELOVL4 GNAT2 LRAT RHO
2 stargardt disease 4 12.2
3 stargardt disease 3 12.1
4 cngb3-related stargardt disease 1 11.8
5 stargardt disease, autosomal recessive 11.8
6 abca4-related stargardt disease 1 11.8
7 stargardt macular degeneration 10.8
8 multifocal pattern dystrophy simulating fundus flavimaculatus 10.8
9 hereditary night blindness 10.8
10 sulfate transporter-related osteochondrodysplasia 10.8 ABCA4 CNGB3
11 6q terminal deletion syndrome 10.6 CNGB3 GNAT2
12 achromatopsia 4 10.6 CNGB3 GNAT2
13 jalili syndrome 10.6 CNGB3 GNAT2
14 orofaciodigital syndrome xv 10.5 CNGB3 GNAT2 RPGR
15 panic disorder 3 10.5 ABCA4 LRAT
16 retinitis 10.5
17 urofacial syndrome 1 10.4 CNGB3 RDH12 RPGR
18 ciliary dyskinesia, primary, 9, with or without situs inversus 10.4 ABCA4 CRB1 PROM1 PRPH2
19 tuberculous peritonitis 10.4 PROM1 PRPH2 RIMS1
20 hypertropia 10.4 PROM1 PRPH2 RIMS1
21 epileptic encephalopathy, early infantile, 1 10.4 CNGB3 CRB1 RPE65
22 somatization disorder 10.4 CNGB3 RHO
23 congenital hypogammaglobulinemia 10.4 CNGB3 RPE65
24 leber congenital amaurosis 9 10.4 CRB1 RDH12 RPE65
25 autosomal recessive cerebral atrophy 10.4 ABCA4 LRAT RPE65
26 ventricular extrasystoles with syncope, perodactyly, and robin sequence 10.4 ABCA4 MYO7A RPE65
27 hypopigmentation of eyelid 10.3 CNGB3 RHO
28 optic atrophy 6 10.3 CNGB3 CRB1 GNAT2 RPE65
29 blessig's cysts 10.3 PRPH2 RPGR
30 combined oxidative phosphorylation deficiency 3 10.3 PRPH2 RHO RPE65
31 acute biphenotypic leukemia 10.3 CNGB3 GNAT2 RPE65 RPGR
32 lumbosacral plexus lesion 10.2 ABCA4 CNGB3 RHO RPE65
33 retinitis pigmentosa 38 10.2 MERTK RPE65
34 placental choriocarcinoma 10.2 ABCA4 ELOVL4 RHO RPE65
35 retinitis pigmentosa 10.2
36 asthma-related traits 8 10.2 MYO7A RHO RPGR
37 immunodeficiency 23 10.2 ELOVL4 EYS RIMS1
38 choroiditis 10.1
39 cone-rod dystrophy 10.0
40 macular dystrophy, patterned, 1 10.0 PRPH2 RHO
41 actin-accumulation myopathy 10.0 ABCA4 ELOVL4 PRPH2 RHO RIMS1
42 posterior polar cataract 10.0 ABCA4 CNGB3 RHO RPE65 RPGR
43 retinal disease 9.9
44 retinal degeneration 9.9
45 macular holes 9.8
46 scotoma 9.8
47 retinoblastoma 9.7
48 choroideremia 9.7
49 leber congenital amaurosis 9.7
50 congenital stationary 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:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 56 32 obligate (100%) Obligate (100%) HP:0007663
2 macular degeneration 56 32 hallmark (90%) Very frequent (99-80%) HP:0000608
3 central scotoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000603
4 retinal thinning 56 32 hallmark (90%) Very frequent (99-80%) HP:0030329
5 abnormality of visual evoked potentials 56 32 hallmark (90%) Very frequent (99-80%) HP:0000649
6 abnormality of the fovea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000493
7 abnormality of color vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000551
8 abnormality of the choroid 56 32 hallmark (90%) Very frequent (99-80%) HP:0000610
9 paroxysmal involuntary eye movements 56 32 hallmark (90%) Very frequent (99-80%) HP:0007704
10 abnormality of macular pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0008002
11 aplasia/hypoplasia of the macula 56 32 frequent (33%) Frequent (79-30%) HP:0008059
12 yellow/white lesions of the macula 56 32 frequent (33%) Frequent (79-30%) HP:0030500
13 nyctalopia 32 hallmark (90%) HP:0000662
14 night blindness 56 Very frequent (99-80%)
15 loss of retinal pigment epithelium 56 Very frequent (99-80%)
16 salt and pepper retinopathy 56 Very frequent (99-80%)
17 retinal pigment epithelial atrophy 32 hallmark (90%) HP:0007722
18 retinal pigment epithelial mottling 32 hallmark (90%) HP:0007814

MGI Mouse Phenotypes related to Stargardt Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ABCA4 CNGB3 CRB1 ELOVL4 GNAT2 LRAT
2 pigmentation MP:0001186 9.73 ABCA4 CRB1 ELOVL4 MERTK MYO7A PROM1
3 vision/eye MP:0005391 9.5 GNAT2 LRAT MERTK MYO7A PROM1 PRPH2

Drugs & Therapeutics for Stargardt Disease

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

(show all 17)
id 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 11103-57-4, 68-26-8 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 Pharmaceutical Solutions Phase 1, Phase 2
7 retinol Nutraceutical Phase 2,Phase 1
8
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
9 Antidotes Phase 1
10 Protective Agents Phase 1
11 Omega 3 Fatty Acid Nutraceutical Phase 1
12
Hydroxychloroquine Approved 118-42-3 3652
13 Anti-Infective Agents
14 Antimalarials
15 Antiparasitic Agents
16 Antiprotozoal Agents
17 Antirheumatic Agents

Interventional clinical trials:

(show all 29)

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

id Genetic test Affiliating Genes
1 Stargardt Disease 29 24

Anatomical Context for Stargardt Disease

MalaCards organs/tissues related to Stargardt Disease:

39
Eye, Retina, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Stargardt Disease:
id 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 232)
id Title Authors Year
1
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE. ( 28248825 )
2017
2
The Importance of Outcome Measure Research in Stargardt Disease. ( 28542669 )
2017
3
Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7. ( 28542693 )
2017
4
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease. ( 28912967 )
2017
5
Complement modulation in the retinal pigment epithelium rescues photoreceptor degeneration in a mouse model of Stargardt disease. ( 28348233 )
2017
6
Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease. ( 28365912 )
2017
7
Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6. ( 28549516 )
2017
8
Novel therapeutics for Stargardt disease. ( 28285324 )
2017
9
Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5. ( 28542697 )
2017
10
Stargardt disease-associated mutation spectrum of a Russian Federation cohort. ( 27939946 )
2017
11
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. ( 28355279 )
2017
12
Optical Coherence Tomography Angiography Findings in Stargardt Disease. ( 28151966 )
2017
13
Reading ability and quality of life in Stargardt disease. ( 28430335 )
2017
14
Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy. ( 28738413 )
2017
15
CHOROIDAL THICKNESS IN PATIENTS WITH STARGARDT DISEASE. ( 28198784 )
2017
16
Morpho-functional analysis of Stargardt Disease for reading. ( 28576211 )
2017
17
ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE. ( 28613213 )
2017
18
STARGARDT DISEASE: Beyond Flecks and Atrophy. ( 28099317 )
2017
19
A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele? ( 28611652 )
2017
20
Macular hole in Stargardt disease: Clinical and ultra-structural observation. ( 28121212 )
2017
21
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease. ( 28288486 )
2017
22
Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness. ( 28920007 )
2017
23
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
24
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
25
Asymmetric Inter-Eye Progression in Stargardt Disease. ( 28002570 )
2016
26
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families. ( 27739528 )
2016
27
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). ( 27378015 )
2016
28
Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial. ( 27730010 )
2016
29
COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE. ( 26583307 )
2016
30
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. ( 26780318 )
2016
31
En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease. ( 27409479 )
2016
32
Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients. ( 27813578 )
2016
33
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease. ( 26981328 )
2016
34
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease. ( 28050124 )
2016
35
Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene. ( 27116512 )
2016
36
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. ( 27491360 )
2016
37
MAPPING THE DENSE SCOTOMA AND ITS ENLARGEMENT IN STARGARDT DISEASE. ( 26909568 )
2016
38
En face OCT in Stargardt disease. ( 26743751 )
2016
39
Residual visual function in a man with a large subfoveal outer retinal tubulation in late-onset Stargardt disease. ( 26949114 )
2016
40
Progression of Late-Onset Stargardt Disease. ( 27699414 )
2016
41
Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. ( 27030965 )
2016
42
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10Ta89C Mutation in Stargardt Disease. ( 26976702 )
2016
43
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. ( 27775217 )
2016
44
Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography. ( 27628426 )
2016
45
Fluorescence Lifetime Imaging in Stargardt Disease: Potential Marker for Disease Progression. ( 26934141 )
2016
46
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. ( 26786511 )
2016
47
Fixation Improvement through Biofeedback Rehabilitation in Stargardt Disease. ( 27212950 )
2016
48
Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? ( 26427432 )
2016
49
Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease. ( 26207301 )
2015
50
Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease. ( 26420842 )
2015

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

6 (show top 50) (show all 110)
id 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 ABCA4, TRP821ARG undetermined variant Pathogenic
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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 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:

id 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 inner segment GO:0001917 9.43 GNAT2 MYO7A RHO
3 photoreceptor disc membrane GO:0097381 9.37 ABCA4 RHO
4 photoreceptor outer segment GO:0001750 9.28 ABCA4 CNGB3 GNAT2 MERTK MYO7A PROM1
5 photoreceptor inner segment membrane GO:0060342 9.16 RDH12 RHO
6 photoreceptor outer segment membrane GO:0042622 9.13 GNAT2 PROM1 RHO

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

(show all 13)
id 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:

id 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 8.62 ELOVL4 GNAT2

Sources for Stargardt Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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52 Novoseek
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55 OMIM via Orphanet
59 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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