Aliases & Classifications for Stargardt Macular Degeneration

MalaCards integrated aliases for Stargardt Macular Degeneration:

Name: Stargardt Macular Degeneration 25
Macular Dystrophy with Flecks, Type 1 25
Juvenile Macular Degeneration 25
Stargardt Disease 1 69
Stargardt Disease 25
Stgd 25

Summaries for Stargardt Macular Degeneration

Genetics Home Reference : 25 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 1 and stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. 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 acetic acid and Vitamin A 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 32)
id Related Disease Score Top Affiliating Genes
1 stargardt disease 1 30.8 ABCA4 ELOVL4 RHO
2 stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features 12.1
3 juvenile macular degeneration and hypotrichosis 12.0
4 hypotrichosis, congenital, with juvenile macular dystrophy 11.0
5 stargardt disease 10.9
6 stargardt disease 4 10.9
7 lumbosacral plexus lesion 10.0 ABCA4 RHO
8 macular dystrophy, patterned, 1 10.0 PRPH2 RHO
9 retinitis 9.9
10 ciliary dyskinesia, primary, 9, with or without situs inversus 9.9 ABCA4 PRPH2
11 posterior polar cataract 9.9 ABCA4 RHO
12 amblyopia 9.7
13 bardet-biedl syndrome 9.7
14 cerebritis 9.7
15 hypotrichosis 9.7
16 gigantism 9.7
17 combined oxidative phosphorylation deficiency 3 9.7 PRPH2 RHO
18 osteopoikilosis and dacryocystitis 9.7 ABCA4 PRPH2 RHO
19 tuberculous peritonitis 9.6 PRPH2 RIMS1
20 immunodeficiency 23 9.6 ELOVL4 RIMS1
21 whipple disease 9.6 ABCA4 PRPH2 RHO
22 hypertropia 9.6 PRPH2 RIMS1
23 placental choriocarcinoma 9.5 ABCA4 ELOVL4 RHO
24 angiolipoma 9.5 PRPH2 RHO
25 ichthyosis with confetti 9.3 ABCA4 PRPH2 RIMS1
26 hereditary breast ovarian cancer 9.1 ABCA4 ELOVL4 PRPH2 RHO
27 macular degeneration, age-related, 1 9.0 ABCA4 ELOVL4 PRPH2 RHO
28 limbal stem cell deficiency 9.0 ABCA4 ELOVL4 PRPH2 RHO
29 impetigo 8.8 ABCA4 PRPH2 RHO RIMS1
30 actin-accumulation myopathy 8.2 ABCA4 ELOVL4 PRPH2 RHO RIMS1
31 tendinitis 8.2 ABCA4 ELOVL4 PRPH2 RHO RIMS1
32 scar contracture 8.1 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:

44
id 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 11)
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

Interventional clinical trials:

(show all 26)

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 Phase I/IIa Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01367444 Phase 1, Phase 2 SAR422459
4 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
5 Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Recruiting NCT03033108 Phase 2 Emixustat
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 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
18 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
19 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
20 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Active, not recruiting NCT02410122
21 DHA Supplementation in Patients With STGD3 Active, not recruiting NCT00420602
22 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
23 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
24 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
25 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Not yet recruiting NCT03297515
26 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:

39
Retina, Eye

Publications for Stargardt Macular Degeneration

Articles related to Stargardt Macular Degeneration:

id Title Authors Year
1
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. ( 22948568 )
2012
2
Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration. ( 21464132 )
2011
3
Binding of retinoids to ABCA4, the photoreceptor ABC transporter associated with Stargardt macular degeneration. ( 20552428 )
2010
4
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. ( 20633576 )
2010
5
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. ( 19230850 )
2009
6
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
7
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
id 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

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:

id 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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 G-protein coupled photoreceptor activity GO:0008020 8.32 ELOVL4

Sources for Stargardt Macular Degeneration

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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37 KEGG
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48 NDF-RT
51 NINDS
52 Novoseek
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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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