Aliases & Classifications for Stargardt Macular Degeneration

MalaCards integrated aliases for Stargardt Macular Degeneration:

Name: Stargardt Macular Degeneration 24
Macular Dystrophy with Flecks, Type 1 24
Juvenile Macular Degeneration 24
Stargardt Disease 1 69
Stargardt Disease 24
Stgd 24

External Ids:

UMLS 69 C1855465

Summaries for Stargardt Macular Degeneration

Genetics Home Reference : 24 Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.

MalaCards based summary : Stargardt Macular Degeneration, also known as macular dystrophy with flecks, type 1, is related to stargardt disease and stargardt disease 1. An important gene associated with Stargardt Macular Degeneration is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and the visual cycle I (vertebrates). The drugs Vitamin A and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are nervous system and pigmentation

Related Diseases for Stargardt Macular Degeneration

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 31.8 ABCA4 ELOVL4 PRPH2 RHO RIMS1
2 stargardt disease 1 31.2 ABCA4 ELOVL4 RHO
3 macular degeneration, age-related, 1 29.5 ABCA4 ELOVL4 PRPH2 RHO
4 retinitis 29.5 PRPH2 RHO
5 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features 12.2
6 juvenile macular degeneration and hypotrichosis 12.2
7 hypotrichosis, congenital, with juvenile macular dystrophy 11.1
8 stargardt disease 4 11.0
9 red-green color blindness 10.0 ABCA4 RHO
10 retinitis pigmentosa 1 9.9 PRPH2 RHO
11 retinitis pigmentosa 7 9.9 PRPH2 RHO
12 prolonged electroretinal response suppression 9.8 ABCA4 PRPH2
13 retinitis pigmentosa 25 9.8 ELOVL4 RIMS1
14 fundus albipunctatus 9.7 PRPH2 RHO
15 degeneration of macula and posterior pole 9.7 ABCA4 ELOVL4 RHO
16 choroidal dystrophy, central areolar, 1 9.7 PRPH2 RIMS1
17 congenital stationary night blindness 9.6 ABCA4 RHO
18 rhyns syndrome 9.6 ABCA4 PRPH2 RHO
19 hereditary choroidal atrophy 9.6 PRPH2 RIMS1
20 retinal degeneration 9.6 ABCA4 PRPH2 RHO
21 partial central choroid dystrophy 9.6 PRPH2 RIMS1
22 retinal disease 9.3 ABCA4 ELOVL4 PRPH2 RHO
23 leber congenital amaurosis 9.2 ABCA4 ELOVL4 PRPH2 RHO
24 cone-rod dystrophy 2 9.0 ABCA4 PRPH2 RHO RIMS1
25 fundus dystrophy 9.0 ABCA4 PRPH2 RHO RIMS1
26 retinitis pigmentosa 8.6 ABCA4 ELOVL4 PRPH2 RHO RIMS1

Graphical network of the top 20 diseases related to Stargardt Macular Degeneration:



Diseases related to Stargardt Macular Degeneration

Symptoms & Phenotypes for Stargardt Macular Degeneration

MGI Mouse Phenotypes related to Stargardt Macular Degeneration:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 ABCA4 ELOVL4 PRPH2 RHO RIMS1
2 pigmentation MP:0001186 9.26 ABCA4 ELOVL4 PRPH2 RHO
3 vision/eye MP:0005391 8.92 ABCA4 ELOVL4 PRPH2 RHO

Drugs & Therapeutics for Stargardt Macular Degeneration

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 68-26-8, 11103-57-4 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
8 retinol Nutraceutical Phase 2,Phase 1
9
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
10 Antidotes Phase 1
11 Protective Agents Phase 1
12 Omega 3 Fatty Acid Nutraceutical Phase 1
13 Sunflower Nutraceutical

Interventional clinical trials:

(show all 25)

# 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 Phase I/II Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01367444 Phase 1, Phase 2 SAR422459
5 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
6 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Recruiting NCT03364153 Phase 2 Zimura
7 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
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 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
11 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole
12 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
13 A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies Completed NCT01977846
14 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
15 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
16 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
17 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
18 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
19 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Active, not recruiting NCT02410122
20 DHA Supplementation in Patients With STGD3 Active, not recruiting NCT00420602
21 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
22 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
23 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
24 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Not yet recruiting NCT03297515
25 Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766

Search NIH Clinical Center for Stargardt Macular Degeneration

Genetic Tests for Stargardt Macular Degeneration

Anatomical Context for Stargardt Macular Degeneration

MalaCards organs/tissues related to Stargardt Macular Degeneration:

38
Retina, Eye

Publications for Stargardt Macular Degeneration

Articles related to Stargardt Macular Degeneration:

# Title Authors Year
1
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. ( 29145636 )
2018
2
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. ( 22948568 )
2012
3
Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration. ( 21464132 )
2011
4
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. ( 20633576 )
2010
5
Binding of retinoids to ABCA4, the photoreceptor ABC transporter associated with Stargardt macular degeneration. ( 20552428 )
2010
6
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. ( 19230850 )
2009
7
A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings. ( 19451813 )
2009
8
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. ( 11527935 )
2001

Variations for Stargardt Macular Degeneration

ClinVar genetic disease variations for Stargardt Macular Degeneration:

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.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
3 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
4 ABCA4 NM_000350.2(ABCA4): c.4253+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs61750138 GRCh38 Chromosome 1, 94030991: 94030991

Expression for Stargardt Macular Degeneration

Search GEO for disease gene expression data for Stargardt Macular Degeneration.

Pathways for Stargardt Macular Degeneration

Pathways related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 ABCA4 RHO
2
Show member pathways
10.36 ABCA4 RHO

GO Terms for Stargardt Macular Degeneration

Cellular components related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.96 ABCA4 RHO
2 photoreceptor outer segment GO:0001750 8.8 ABCA4 PRPH2 RHO

Biological processes related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.54 ABCA4 RHO RIMS1
2 retina development in camera-type eye GO:0060041 9.32 PRPH2 RHO
3 retinoid metabolic process GO:0001523 9.26 ABCA4 RHO
4 photoreceptor cell maintenance GO:0045494 9.16 ABCA4 RHO
5 phototransduction, visible light GO:0007603 8.96 ABCA4 RHO
6 visual perception GO:0007601 8.92 ABCA4 PRPH2 RHO RIMS1

Molecular functions related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled photoreceptor activity GO:0008020 8.62 ELOVL4 RHO

Sources for Stargardt Macular Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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67 TGDB
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70 UMLS via Orphanet
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