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MCID: STR022
MIFTS: 59

Stargardt Disease

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Stargardt Disease

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MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease 40 12 74 52 58 36 29 6 15 37 39
Stargardt Disease 1 12 71
Juvenile Onset Macular Degeneration 52
Stargardt Macular Dystrophy 52
Fundus Flavimaculatus 58
Stargardt Disease-1 40
Stargardts Disease 54
Stargardt 1 58

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050817
KEGG 36 H00819
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0271093 C1855465
Orphanet 58 ORPHA827
UMLS 71 C1855465
Sources

Summaries for Stargardt Disease

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NIH Rare Diseases : 52 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 related phenotypes are reduced visual acuity and nyctalopia

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

KEGG : 36 Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4, ELOVL4, PROM1, and CNGB3.

Wikipedia : 74 Stargardt disease is the most common inherited single-gene retinal disease. It usually has an autosomal... more...

Sources

Related Diseases for Stargardt Disease

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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 133)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 1 35.2 MFSD8 CNGB3 ABCA4
2 stargardt macular degeneration 33.8 RHO PRPH2 ELOVL4 ABCA4
3 bestrophinopathy, autosomal recessive 32.7 RPE65 PRPH2 CRB1 BEST1 ABCA4
4 pattern dystrophy 31.7 RHO PRPH2 CRX
5 retinitis 31.6 SNRNP200 RPGR RPE65 RHO PRPH2 EYS
6 macular degeneration, age-related, 1 31.5 RPGR RPE65 RP1L1 RHO RDH8 PRPH2
7 scotoma 31.5 RPGR RPE65 RHO PRPH2 KCNV2 EYS
8 yemenite deaf-blind hypopigmentation syndrome 31.4 RPGR RPE65 RHO CRB1 CFH ABCA4
9 macular degeneration, age-related, 2 31.4 RPE65 RHO RDH8 ABCA4
10 inherited retinal disorder 31.4 RPGR RPE65 PRPH2 PROM1 KCNV2 EYS
11 cone-rod dystrophy 2 31.3 RPGR RPE65 RHO PRPH2 PROM1 GNAT2
12 retinal degeneration 31.3 RPGR RPE65 RHO PRPH2 PROM1 GNAT2
13 tritanopia 31.2 RHO GNAT2 CNGB3
14 retinal disease 31.2 RPGR RPE65 RHO PRPH2 EYS ELOVL4
15 macular dystrophy, patterned, 1 31.2 PRPH2 BEST1
16 choroideremia 31.1 RPGR RPE65 CNGB3 ABCA4
17 retinitis pigmentosa 19 31.0 RPGR ABCA4
18 hereditary retinal dystrophy 31.0 RPE65 RHO EYS ELOVL4 CRB1 ABCA4
19 occult macular dystrophy 31.0 RP1L1 KCNV2 ABCA4
20 cone-rod dystrophy 3 30.9 CRX ABCA4
21 night blindness 30.8 RPGR RPE65 RHO PRPH2 ABCA4
22 fundus albipunctatus 30.8 RPGR RPE65 RHO RDH8 PRPH2 CRX
23 gyrate atrophy of choroid and retina 30.8 RPGR RPE65 RHO PRPH2 ABCA4
24 eye disease 30.8 RPGR RPE65 RHO RDH8 PRPH2 CRX
25 retinitis pigmentosa 30.7 SNRNP200 RPGR RPE65 RP1L1 RHO RDH8
26 retinoschisis 1, x-linked, juvenile 30.7 RPGR RPE65 RHO CRX CRB1 CNGB3
27 pathologic nystagmus 30.7 RPE65 RHO KCNV2 GNAT2 CRX CRB1
28 myopia 30.6 RPGR RHO RDH8 CNGB3
29 cone dystrophy 30.6 RPGR RPE65 RHO PRPH2 KCNV2 EYS
30 fundus dystrophy 30.5 SNRNP200 RPGR RPE65 RP1L1 RHO RDH8
31 leber congenital amaurosis 30.5 RPGR RPE65 RHO RDH8 PRPH2 PROM1
32 congenital stationary night blindness 30.4 RPGR RPE65 RP1L1 RHO PRPH2 GNAT2
33 stargardt disease 3 12.7
34 stargardt disease 4 12.6
35 multifocal pattern dystrophy simulating fundus flavimaculatus 11.3
36 oguchi disease 11.2
37 macular dystrophy, concentric annular 10.7 CRX ABCA4
38 oligocone trichromacy 10.7 GNAT2 CNGB3
39 epidemic pleurodynia 10.7 GNAT2 CNGB3
40 severe early-childhood-onset retinal dystrophy 10.7 RPE65 ABCA4
41 macular dystrophy, dominant cystoid 10.7 CRB1 BEST1 ABCA4
42 solar retinopathy 10.7 RHO ABCA4
43 achromatopsia 4 10.7 GNAT2 CNGB3
44 digenic disease 10.7 PRPH2 CRX
45 macular dystrophy, vitelliform, 3 10.7 PRPH2 BEST1
46 partial central choroid dystrophy 10.7 PRPH2 ABCA4
47 cone-rod dystrophy 8 10.7 GNAT2 CNGB3
48 joubert syndrome 22 10.7 RP1L1 PRPH2 CRX
49 hereditary choroidal atrophy 10.7 PRPH2 ABCA4
50 newfoundland rod-cone dystrophy 10.7 RHO PRPH2

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



Diseases related to Stargardt Disease
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Symptoms & Phenotypes for Stargardt Disease

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Human phenotypes related to Stargardt Disease:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 58 31 obligate (100%) Obligate (100%) HP:0007663
2 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
3 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
4 abnormal foveal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000493
5 central scotoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000603
6 macular degeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0000608
7 paroxysmal involuntary eye movements 58 31 hallmark (90%) Very frequent (99-80%) HP:0007704
8 retinal pigment epithelial mottling 58 31 hallmark (90%) Very frequent (99-80%) HP:0007814
9 abnormality of macular pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008002
10 retinal thinning 58 31 hallmark (90%) Very frequent (99-80%) HP:0030329
11 abnormal choroid morphology 31 hallmark (90%) HP:0000610
12 color vision defect 31 hallmark (90%) HP:0000551
13 retinal pigment epithelial atrophy 31 hallmark (90%) HP:0007722
14 aplasia/hypoplasia of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0008059
15 yellow/white lesions of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0030500
16 abnormality of color vision 58 Very frequent (99-80%)
17 abnormality of the choroid 58 Very frequent (99-80%)
18 loss of retinal pigment epithelium 58 Very frequent (99-80%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.98 SNRNP200
2 Decreased viability GR00402-S-2 9.98 ABCA4 BEST1 CFH CNGB3 CRB1 CRX
3 no effect GR00402-S-1 9.62 ABCA4 BEST1 CFH CNGB3 CRB1 CRX

MGI Mouse Phenotypes related to Stargardt Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 ABCA4 CFH CRB1 CRX GNAT2 MFSD8
2 nervous system MP:0003631 10.03 ABCA4 CFH CNGB3 CRB1 CRX ELOVL4
3 pigmentation MP:0001186 9.77 ABCA4 BEST1 CFH CRB1 CRX ELOVL4
4 vision/eye MP:0005391 9.55 ABCA4 BEST1 CFH CNGB3 CRB1 CRX
Sources

Drugs & Therapeutics for Stargardt Disease

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved Phase 2 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
3 Vitamins Phase 2
4 Trace Elements Phase 2
5 Nutrients Phase 2
6 retinol Phase 2
7 Retinol palmitate Phase 2
8
Retinol acetate Phase 2 127-47-9 10245972
9 Micronutrients Phase 2
10 Immunologic Factors Phase 2
11 Complement C5 Phase 2
12 Complement System Proteins Phase 2
13
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
14 Protective Agents Phase 1
15 Antidotes Phase 1
16 Omega 3 Fatty Acid
17 Sunflower
18 insulin
19 Insulin, Globin Zinc
20 Pharmaceutical Solutions

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Multicenter, Randomized, Double-Masked Study Comparing the Efficacy and Safety of Emixustat Hydrochloride With Placebo for the Treatment of Macular Atrophy Secondary to Stargardt Disease Recruiting NCT03772665 Phase 3 Emixustat;Placebo
2 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
3 A Phase 2a Multicenter, Randomized, Masked Study Evaluating the Pharmacodynamics of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
4 A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01469832 Phase 1, Phase 2
5 A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01345006 Phase 1, Phase 2
6 A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
7 A Phase 2b Randomized, Double-masked, Controlled Trial to Establish the Safety and Efficacy of Zimura™ (Complement C5 Inhibitor) Compared to Sham in Subjects With Autosomal Recessive Stargardt Disease Active, not recruiting NCT03364153 Phase 2 Zimura
8 Clinical Interventions Against Stargardt Macular Dystrophy: Phase 1 Pilot Study of 4-MP as an Inhibitor of Dark Adaptation Completed NCT00346853 Phase 1 4-Methylpyrazole
9 Investigation of the Effect of Dietary Docosahexaenoic Acid (DHA) Supplementation on Macular Function in Subjects With Autosomal Dominant Stargardt-Like and Autosomal Recessive Stargardt Macular Dystrophy Completed NCT00060749 Phase 1 Docosahexaenoic Acid (DHA) Dietary Supplement
10 A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
11 Stem Cells Therapy in Degenerative Diseases of the Retina Enrolling by invitation NCT03772938 Phase 1
12 Clinical Interventions Against Stargardt Macular Dystrophy: DHA Supplementation in Patients With STGD3 Completed NCT00420602
13 Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease Completed NCT01977846
14 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a PROM1- Related Macular Dystrophy Completed NCT02410122
15 Follow-up to 5 Years of a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02941991
16 Long Term Follow Up to a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02445612
17 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
18 Prospective, Randomised, Double-blind Study to Assess the Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease (Macular Degeneration Omega-3 Study - MADEOS Recruiting NCT03297515
19 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
20 Photobiomodulation & Ketogenic Diet for Treatment of Mid-periphery Retinal Disorders (Diabetic Retinopathy, Dry AMD, Hard Drusen Formation) for Alzheimer's Disease Prevention Recruiting NCT03859245
21 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
22 A Multimodal Approach Towards an Objective Assessment of Macular Function at Retinal and Cortical Levels Not yet recruiting NCT03517241
23 Protocol Study for a Randomized Controlled Trial of the Effects of Transcranial Direct Current Stimulation (tDCS) Associated With Proprioceptive Training in Blind People Not yet recruiting NCT03173105
24 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin 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
Sources

Genetic Tests for Stargardt Disease

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Genetic tests related to Stargardt Disease:

# Genetic test Affiliating Genes
1 Stargardt Disease 29
Sources

Anatomical Context for Stargardt Disease

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MalaCards organs/tissues related to Stargardt Disease:

40
Retina, Eye, Bone, Testes, Skin, Cortex, Thyroid
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
Sources

Publications for Stargardt Disease

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Articles related to Stargardt Disease:

(show top 50) (show all 674)
# Title Authors PMID Year
1
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 54 61 6
18285826 2008
2
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 54 61 6
10958763 2000
3
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 54 61 6
10958761 2000
4
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 54 61 6
10746567 2000
5
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. 54 61 6
10396622 1999
6
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. 54 61 6
10874631 1999
7
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. 54 61 6
10090887 1999
8
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 54 61 6
9973280 1999
9
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 54 61 6
9781034 1998
10
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 54 61 6
9503029 1998
11
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 54 61 6
9054934 1997
12
Case of Stargardt disease caused by uniparental isodisomy. 61 6
16682602 2006
13
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 61 6
11919200 2002
14
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 61 6
10205271 1999
15
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 54 6
9490294 1998
16
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
17
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 6
20393116 2010
18
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 6
18654668 2008
19
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. 6
17265047 2007
20
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. 6
16546111 2006
21
Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. 6
16400609 2006
22
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 6
16103129 2005
23
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 6
15712225 2005
24
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. 6
15557430 2004
25
Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. 6
15516930 2004
26
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. 6
15192030 2004
27
Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. 6
15028284 2004
28
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 6
12796258 2003
29
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 6
12657606 2003
30
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. 6
11973624 2002
31
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. 6
11726641 2001
32
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. 6
11138005 2001
33
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 6
10958649 2000
34
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. 6
10880298 2000
35
Genetic basis of total colourblindness among the Pingelapese islanders. 6
10888875 2000
36
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. 6
1347967 1992
37
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene. 54 61
19959634 2010
38
Peripapillary dark choroid ring as a helpful diagnostic sign in advanced stargardt disease. 54 61
20138608 2010
39
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. 54 61
19265867 2010
40
Advances in imaging of Stargardt disease. 54 61
20238033 2010
41
Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease. 54 61
20128570 2010
42
The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene. 54 61
19578016 2009
43
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. 54 61
18977788 2009
44
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. 54 61
19230850 2009
45
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. 54 61
19028736 2009
46
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease. 54 61
19352439 2009
47
Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. 54 61
18463687 2008
48
Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa. 54 61
18506364 2008
49
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. 54 61
18334942 2008
50
Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? 54 61
18652558 2008
Sources

Variations for Stargardt Disease

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ClinVar genetic disease variations for Stargardt Disease:

6 (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROM1 NM_001145847.2(PROM1):c.1090C>T (p.Arg364Cys)SNV Pathogenic 5610 rs137853006 4:16014922-16014922 4:16013299-16013299
2 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)SNV Pathogenic 7882 rs61751408 1:94471065-94471065 1:94005509-94005509
3 ABCA4 NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)SNV Pathogenic 7893 rs61753034 1:94473283-94473283 1:94007727-94007727
4 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)SNV Pathogenic 7904 rs61750130 1:94496666-94496666 1:94031110-94031110
5 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500
6 ABCA4 NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)SNV Pathogenic 7911 rs61753033 1:94474323-94474323 1:94008767-94008767
7 ABCA4 NM_000350.3(ABCA4):c.5461-10T>CSNV Pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395
8 ABCA4 NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)SNV Pathogenic 99331 rs61751403 1:94486895-94486895 1:94021339-94021339
9 ABCA4 NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)SNV Pathogenic 99367 rs61750571 1:94480243-94480243 1:94014687-94014687
10 ABCA4 NM_000350.3(ABCA4):c.5714+5G>ASNV Pathogenic 99403 rs61751407 1:94476351-94476351 1:94010795-94010795
11 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)SNV Pathogenic 99431 rs61753038 1:94471026-94471026 1:94005470-94005470
12 ABCA4 NM_000350.3(ABCA4):c.4253+5G>ASNV Pathogenic 236110 rs61750138 1:94496547-94496547 1:94030991-94030991
13 ABCA4 NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)SNV Pathogenic 236096 rs201471607 1:94512499-94512499 1:94046943-94046943
14 CRB1 NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)SNV Pathogenic 521051 rs564754426 1:197404165-197404165 1:197435035-197435035
15 ABCA4 NM_000350.3(ABCA4):c.2408del (p.Gly803fs)deletion Pathogenic 635978 1:94520846-94520846 1:94055290-94055290
16 ABCA4 NM_000350.2:c.(6816+1_6817-1)_(*1_?)deldeletion Pathogenic 636144
17 KCNV2 NM_133497.4(KCNV2):c.357dup (p.Lys120fs)duplication Pathogenic 636178 rs1402837406 9:2718092-2718093 9:2718092-2718093
18 ABCA4 NM_000350.3(ABCA4):c.885del (p.Leu296fs)deletion Pathogenic/Likely pathogenic 438109 rs764759172 1:94546248-94546248 1:94080692-94080692
19 ABCA4 NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)SNV Pathogenic/Likely pathogenic 99438 rs61750645 1:94467467-94467467 1:94001911-94001911
20 ABCA4 NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)SNV Pathogenic/Likely pathogenic 236129 rs760549861 1:94480241-94480241 1:94014685-94014685
21 ABCA4 NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)SNV Pathogenic/Likely pathogenic 99330 rs61751404 1:94486896-94486896 1:94021340-94021340
22 ABCA4 NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)SNV Pathogenic/Likely pathogenic 99065 rs150774447 1:94577135-94577135 1:94111579-94111579
23 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)SNV Pathogenic/Likely pathogenic 7894 rs61751374 1:94508969-94508969 1:94043413-94043413
24 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)SNV Pathogenic/Likely pathogenic 7898 rs61750200 1:94564484-94564484 1:94098928-94098928
25 ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)SNV Pathogenic/Likely pathogenic 7888 rs1800553 1:94473807-94473807 1:94008251-94008251
26 ABCA4 NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)SNV Likely pathogenic 99087 rs61749412 1:94528251-94528251 1:94062695-94062695
27 ABCA4 NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)SNV Likely pathogenic 99120 rs61751412 1:94577082-94577082 1:94111526-94111526
28 ABCA4 NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)SNV Likely pathogenic 99380 rs62642562 1:94476890-94476890 1:94011334-94011334
29 ABCA4 NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)SNV Likely pathogenic 236085 rs886044728 1:94528709-94528709 1:94063153-94063153
30 ABCA4 NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)SNV Likely pathogenic 636146 1:94512498-94512498 1:94046942-94046942
31 FLVCR1 NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs)deletion Likely pathogenic 636170 1:213068357-213068361 1:212895015-212895019
32 ABCA4 NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)deletion Likely pathogenic 636147 1:94496583-94496583 1:94031027-94031027
33 BEST1 NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter)SNV Likely pathogenic 635997 11:61727445-61727445 11:61959973-61959973
34 CRX NM_000554.6(CRX):c.381dup (p.Ser128fs)duplication Likely pathogenic 636020 19:48342702-48342703 19:47839445-47839446
35 CRX NM_000554.6(CRX):c.827G>A (p.Trp276Ter)SNV Likely pathogenic 636022 19:48343151-48343151 19:47839894-47839894
36 ABCA4 NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)SNV Likely pathogenic 635983 1:94496562-94496562 1:94031006-94031006
37 ABCA4 NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)duplication Likely pathogenic 635982 1:94502745-94502746 1:94037189-94037190
38 ABCA4 NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)SNV Likely pathogenic 635981 1:94506907-94506907 1:94041351-94041351
39 ABCA4 NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)duplication Likely pathogenic 635980 1:94514486-94514487 1:94048930-94048931
40 ABCA4 NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)SNV Likely pathogenic 417991 rs762150575 1:94496010-94496010 1:94030454-94030454
41 ABCA4 NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)SNV Likely pathogenic 438105 rs1553186896 1:94471046-94471046 1:94005490-94005490
42 ABCA4 NM_000350.3(ABCA4):c.5196+1137G>ASNV Likely pathogenic 438100 rs778234759 1:94484001-94484001 1:94018445-94018445
43 ABCA4 NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)SNV Likely pathogenic 635991 1:94466393-94466393 1:94000837-94000837
44 ABCA4 NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)SNV Likely pathogenic 635990 1:94466417-94466417 1:94000861-94000861
45 ABCA4 NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)SNV Conflicting interpretations of pathogenicity 283387 rs140482171 1:94543268-94543268 1:94077712-94077712
46 ABCA4 NM_000350.3(ABCA4):c.5584+6T>CSNV Conflicting interpretations of pathogenicity 99385 rs61750633 1:94476812-94476812 1:94011256-94011256
47 ABCA4 NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)SNV Conflicting interpretations of pathogenicity 99398 rs1800552 1:94476377-94476377 1:94010821-94010821
48 BEST1 NM_004183.4(BEST1):c.422G>A (p.Arg141His)SNV Conflicting interpretations of pathogenicity 2740 rs121918284 11:61723364-61723364 11:61955892-61955892
49 ABCA4 NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)SNV Conflicting interpretations of pathogenicity 99301 rs62646862 1:94568686-94568686 1:94103130-94103130
50 ABCA4 NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)SNV Conflicting interpretations of pathogenicity 99311 rs1762111 1:94487490-94487490 1:94021934-94021934

Copy number variations for Stargardt Disease from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13317 1 1 117600000 Microdeletion ABCA4 Stargardt''s disease
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Expression for Stargardt Disease

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Search GEO for disease gene expression data for Stargardt Disease.
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Pathways for Stargardt Disease

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Pathways related to Stargardt Disease according to KEGG:

36
# 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
Metabolism of fat-soluble vitamins 65
Show member pathways
 11.89 RPE65 RHO RDH8 ABCA4
2
Phototransduction 36
Show member pathways
 11.65 RPE65 RHO GNAT2 CNGB3
3
the visual cycle I (vertebrates) 1
Show member pathways
 11 RPE65 RHO RDH8 ABCA4
4
Visual Cycle in Retinal Rods 63
10.99 RPE65 RHO RDH8 GNAT2 CNGB3
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GO Terms for Stargardt Disease

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

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.62 RPGR RP1L1 PROM1 EYS
2 photoreceptor inner segment GO:0001917 9.33 RHO GNAT2 CRB1
3 photoreceptor outer segment GO:0001750 9.28 RPGR RP1L1 RHO PRPH2 PROM1 GNAT2
4 photoreceptor disc membrane GO:0097381 9.26 RHO ABCA4
5 photoreceptor outer segment membrane GO:0042622 9.13 RHO PROM1 GNAT2

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.7 RPGR RPE65 RP1L1 RHO RDH8 GNAT2
2 retina development in camera-type eye GO:0060041 9.62 RPE65 RP1L1 RHO PRPH2
3 photoreceptor cell maintenance GO:0045494 9.56 RP1L1 RHO PROM1 ABCA4
4 retinoid metabolic process GO:0001523 9.54 RPE65 RHO ABCA4
5 detection of light stimulus involved in visual perception GO:0050908 9.46 RPE65 GNAT2 EYS BEST1
6 retina morphogenesis in camera-type eye GO:0060042 9.43 RPE65 PROM1
7 phototransduction, visible light GO:0007603 9.4 RHO ABCA4
8 visual perception GO:0007601 9.4 RPGR RPE65 RP1L1 RHO RDH8 PRPH2

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled photoreceptor activity GO:0008020 8.8 RHO GNAT2 ELOVL4
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Sources for Stargardt Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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