MCID: STR022
MIFTS: 71

Stargardt Disease malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Stargardt Disease

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NIH Rare Diseases:42 Stargardt disease is a genetic eye disorder that causes progressive vision loss. this disorder affects the macula, an area of the retina responsible for sharp central vision (needed for detailed tasks such as reading, driving, and recognizing faces). individuals with the condition have abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells underlying the macula, which causes central vision loss. people with stargardt disease also have problems with night vision and some people may 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 usually caused by mutations in the abca4 gene and inherited in an autosomal recessive manner, but it can also be caused by mutations in the elovl4 gene and inherited in an autosomal dominant manner. last updated: 2/26/2011

MalaCards based summary: Stargardt Disease, also known as stargardt disease 1, is related to retinitis and fundus flavimaculatus, and has symptoms including bull's eye maculopathy, autosomal recessive inheritance and macular degeneration. An important gene associated with Stargardt Disease is ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4), and among its related pathways are Diseases associated with visual transduction and the visual cycle I (vertebrates). The drugs interferon alfa-2a and interferon alfa-2b and the compounds 11-cis-retinol and lipid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related mouse phenotypes are pigmentation and cellular.

Disease Ontology:9 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Wikipedia:64 Stargardt disease, or fundus flavimaculatus, is an inherited form of juvenile macular degeneration that... more...

Descriptions from OMIM:46 603786,600110,248200

Aliases & Classifications for Stargardt Disease

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Sources:
32MalaCards, 31LifeMap Discovery®, 9Disease Ontology, 42NIH Rare Diseases, 21GeneTests, 23GTR, 48Orphanet, 61UMLS, 46OMIM, 44Novoseek, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Stargardt Disease, Aliases & Descriptions:

Name: Stargardt Disease 32 31 9 42 21 23 48
Stargardt Disease 1 9 23 46 61
Juvenile Onset Macular Degeneration 42
Age Related Macular Degeneration 61
Stargardt Macular Dystrophy 42
 
Fundus Flavimaculatus 48
Stargardt's Disease 61
Stargardt Disease-1 32
Stargardts Disease 44
Stargardt 1 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
stargardt disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Normal


External Ids:

Disease Ontology9 DOID:0050817
ICD10 via Orphanet27 H35.5
UMLS via Orphanet62 C0271093

Related Diseases for Stargardt Disease

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Diseases in the Stargardt Disease family:

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

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.3RHO
2fundus flavimaculatus31.2ABCA4
3age related macular degeneration31.0RHO
4night blindness29.9RHO, ABCA4
5blindness29.9ABCA4, CRB1, RHO
6leber congenital amaurosis29.7PRPH2, CRB1, RHO
7retinoblastoma29.5RHO, PROM1, GNAT2, SMARCA4
8retinal degeneration29.3RHO, CRB1, ELOVL4, PROM1, PRPH2, ABCA4
9retinitis pigmentosa10.5
10stargardt disease 410.4
11multifocal pattern dystrophy simulating fundus flavimaculatus10.4
12stargardt disease 310.4
13cone-rod dystrophy10.3
14retinal disease10.3
15proliferative vitreoretinopathy10.2
16achromatopsia10.2GNAT2, CNGB3
17stargardt disease, autosomal recessive10.2
18abca4-related stargardt disease 110.2
19cngb3-related stargardt disease 110.2
20stargardt macular degeneration10.2
21congenital nystagmus10.1CNGB3, GNAT2
22primary open angle glaucoma10.0RHO, ABCA4
23macular holes10.0
24scotoma10.0
25congenital stationary night blindness10.0
26occult macular dystrophy10.0
27choroiditis10.0
28choroideremia10.0
29macular dystrophy10.0
30fundus albipunctatus9.9RHO, PRPH2
31fundus dystrophy9.9RHO, CRB1, ABCA4
32spiradenoma9.8RHO, ABCA4
33cone-rod dystrophy 29.6RHO, PRPH2, GNAT2, ABCA4
34rhyns syndrome9.5ABCA4, PRPH2, ELOVL4, CRB1, RHO

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



Diseases related to stargardt disease

Symptoms for Stargardt Disease

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Symptoms by clinical synopsis from OMIM:

248200

Clinical features from OMIM:

603786,600110,248200

HPO human phenotypes related to Stargardt Disease:

id Description Frequency HPO Source Accession
1 bull's eye maculopathy 15% HP:0011504
2 autosomal recessive inheritance HP:0000007
3 macular degeneration HP:0000608
4 retinitis pigmentosa inversa HP:0008035

Drugs & Therapeutics for Stargardt Disease

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Drug clinical trials:

Search ClinicalTrials for Stargardt Disease

Search NIH Clinical Center for Stargardt Disease

Inferred drug relations via UMLS61/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
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

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Genetic tests related to Stargardt Disease:

id Genetic test Affiliating Genes
1 Stargardt Disease Multi-Gene Panels21
2 Stargardt Disease 123
3 Stargardt's Disease23

Anatomical Context for Stargardt Disease

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MalaCards organs/tissues related to Stargardt Disease:

32
Eye, Retina, Testes

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Stargardt Disease:
id TissueAnatomical CompartmentCell Relevance
1 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Animal Models for Stargardt Disease or affiliated genes

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MGI Mouse Phenotypes related to Stargardt Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011867.9ABCA4, PRPH2, PROM1, ELOVL4, CRB1, RHO
2MP:00053847.8RHO, CNGB3, PROM1, PRPH2, SMARCA4
3MP:00053917.2RHO, ABCA4, GNAT2, PRPH2, PROM1, ELOVL4
4MP:00053857.1ABCA4, SMARCA4, GNAT2, PRPH2, PROM1, RHO
5MP:00036316.2ABCA4, SMARCA4, GNAT2, PRPH2, PROM1, ELOVL4

Publications for Stargardt Disease

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Articles related to Stargardt Disease:

(show top 50)    (show all 156)
idTitleAuthorsYear
1
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
2
Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. (24428930)
2014
3
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing. (24763286)
2014
4
Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations. (25265374)
2014
5
Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease. (24585425)
2014
6
Correlations Amongst Near-Infrared and Short-Wavelength Autofluorescence and Spectral Domain Optical Coherence Tomography in Recessive Stargardt Disease. (25342616)
2014
7
Analysis of the ABCA4 genomic locus in Stargardt disease. (25082829)
2014
8
Design, synthesis, and evaluation of nonretinoid retinol binding protein 4 antagonists for the potential treatment of atrophic age-related macular degeneration and Stargardt disease. (25210858)
2014
9
ASSOCIATION OF DARK-ADAPTED VISUAL FUNCTION WITH RETINAL STRUCTURAL CHANGES IN PATIENTS WITH STARGARDT DISEASE. (24280667)
2013
10
Fine central macular dots associated with childhood-onset Stargardt Disease. (24020726)
2013
11
THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE. (24317291)
2013
12
A longitudinal study of stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. (24265018)
2013
13
Biofeedback rehabilitation of eccentric fixation in patients with Stargardt disease. (23640508)
2013
14
Stargardt disease caused by a rare combination of double homozygous mutations. (24509150)
2013
15
Stargardt disease: towards developing a model to predict phenotype. (23695285)
2013
16
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. (23953153)
2013
17
Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients. (24342785)
2013
18
Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease. (24011517)
2013
19
Fundus autofluorescence in the Abca4(-/-) mouse model of Stargardt disease--correlation with accumulation of A2E, retinal function, and histology. (23761084)
2013
20
Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. (24319520)
2012
21
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. (22661472)
2012
22
Progression of retinal pigment epithelial atrophy in stargardt disease. (22464366)
2012
23
Fundus autofluorescence patterns in stargardt disease over time-reply. (23753838)
2012
24
Treatment of Stargardt disease with dobesilate. (23076703)
2012
25
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). (22076985)
2011
26
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease. (20398653)
2010
27
DHA supplementation for late onset Stargardt disease: NAT-3 study. (20668719)
2010
28
Test-retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease. (20021256)
2010
29
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (20108396)
2010
30
Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease. (20876139)
2010
31
Educational levels in patients with stargardt disease. (20688312)
2010
32
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (19265867)
2010
33
Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD). (21297895)
2008
34
Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives. (18326749)
2008
35
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. (18334942)
2008
36
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (17879441)
2007
37
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. (17297691)
2006
38
Gene symbol: ABCA4. Disease: Stargardt disease 1. (17128450)
2006
39
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease. (15161829)
2004
40
Stargardt disease in a patient with retinoblastoma. (14609928)
2003
41
ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. (12202497)
2002
42
ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease. (10736747)
2000
43
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. (10711710)
2000
44
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. (10874631)
1999
45
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. (10090887)
1999
46
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. (9503029)
1998
47
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. (9843201)
1998
48
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). (8884286)
1996
49
Genetic fine mapping of the gene for recessive Stargardt disease. (8792830)
1996
50
Fixation patterns and reading rates in eyes with central scotomas from advanced atrophic age-related macular degeneration and Stargardt disease. (8841306)
1996

Variations for Stargardt Disease

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UniProtKB/Swiss-Prot genetic disease variations for Stargardt Disease:

63 (show all 190)
id Symbol AA change Variation ID SNP ID
1ABCA4p.Arg18TrpVAR_008398rs121909205
2ABCA4p.Arg24HisVAR_008399
3ABCA4p.Cys54TyrVAR_008400
4ABCA4p.Gly65GluVAR_008401
5ABCA4p.Cys75GlyVAR_008402
6ABCA4p.Asn96AspVAR_008403
7ABCA4p.Asn96HisVAR_008404
8ABCA4p.Ala192ThrVAR_008405
9ABCA4p.Arg212CysVAR_008406
10ABCA4p.Asp249GlyVAR_008407
11ABCA4p.Thr300AsnVAR_008408
12ABCA4p.Ser336CysVAR_008409
13ABCA4p.Tyr340AspVAR_008410
14ABCA4p.Ala407ValVAR_008411
15ABCA4p.Ser445ArgVAR_008412
16ABCA4p.Glu471LysVAR_008413rs1800548
17ABCA4p.Asp523GluVAR_008414
18ABCA4p.Leu541ProVAR_008415
19ABCA4p.Arg572ProVAR_008416
20ABCA4p.Arg572GlnVAR_008417
21ABCA4p.Arg602TrpVAR_008418
22ABCA4p.Phe608IleVAR_008419
23ABCA4p.Asp645AsnVAR_008421
24ABCA4p.Gly818GluVAR_008422
25ABCA4p.Trp821ArgVAR_008423
26ABCA4p.Gly851AspVAR_008424
27ABCA4p.Gly863AlaVAR_008425rs76157638
28ABCA4p.Val931MetVAR_008427rs58331765
29ABCA4p.Gln957ArgVAR_008429
30ABCA4p.Asn965SerVAR_008430
31ABCA4p.Gly978CysVAR_008431
32ABCA4p.Glu1036LysVAR_008432
33ABCA4p.Ala1038ValVAR_008433rs61751374
34ABCA4p.Ser1071LeuVAR_008434
35ABCA4p.Val1072AlaVAR_008435
36ABCA4p.Glu1087LysVAR_008436
37ABCA4p.Thr1112AsnVAR_008437
38ABCA4p.Glu1122LysVAR_008438
39ABCA4p.Arg1129LeuVAR_008439rs1801269
40ABCA4p.Leu1201ArgVAR_008440rs61750126
41ABCA4p.Asp1204AsnVAR_008441
42ABCA4p.Pro1380LeuVAR_008443
43ABCA4p.His1406TyrVAR_008444
44ABCA4p.Trp1408LeuVAR_008445
45ABCA4p.Trp1408ArgVAR_008446
46ABCA4p.Val1429AlaVAR_008448
47ABCA4p.Val1433IleVAR_008449rs56357060
48ABCA4p.Gly1439AspVAR_008450
49ABCA4p.Phe1440SerVAR_008451
50ABCA4p.Pro1486LeuVAR_008452
51ABCA4p.Cys1488ArgVAR_008453
52ABCA4p.Cys1490TyrVAR_008454
53ABCA4p.Thr1526MetVAR_008456
54ABCA4p.Asp1532AsnVAR_008457
55ABCA4p.Ile1562ThrVAR_008458rs1762111
56ABCA4p.Leu1631ProVAR_008460
57ABCA4p.Arg1640TrpVAR_008461
58ABCA4p.Tyr1652AspVAR_008462
59ABCA4p.Ser1696AsnVAR_008463
60ABCA4p.Gln1703LysVAR_008464
61ABCA4p.Leu1729ProVAR_008465
62ABCA4p.Ala1794AspVAR_008466
63ABCA4p.Arg1820ProVAR_008467
64ABCA4p.His1838TyrVAR_008468
65ABCA4p.Arg1843TrpVAR_008469
66ABCA4p.Gly1886GluVAR_008471
67ABCA4p.Arg1898HisVAR_008473rs1800552
68ABCA4p.Gly1961GluVAR_008475rs1800553
69ABCA4p.Leu1970PheVAR_008476rs1800554
70ABCA4p.Gly1977SerVAR_008477
71ABCA4p.Leu2027PheVAR_008478rs61751408
72ABCA4p.Arg2030GlnVAR_008480rs61750641
73ABCA4p.Val2050LeuVAR_008481rs41292677
74ABCA4p.Arg2077TrpVAR_008482
75ABCA4p.Glu2096LysVAR_008483
76ABCA4p.Arg2106CysVAR_008484
77ABCA4p.Arg2107HisVAR_008485rs62642564
78ABCA4p.His2128ArgVAR_008486
79ABCA4p.Glu2131LysVAR_008487
80ABCA4p.Arg2139TrpVAR_008488
81ABCA4p.Cys2150TyrVAR_008489
82ABCA4p.Lys2160ArgVAR_008490
83ABCA4p.Ala60ValVAR_008492
84ABCA4p.Arg2038TrpVAR_008495
85ABCA4p.Leu11ProVAR_012493
86ABCA4p.Asn58LysVAR_012495
87ABCA4p.Ala60GluVAR_012496
88ABCA4p.Ala60ThrVAR_012497
89ABCA4p.Pro68LeuVAR_012498
90ABCA4p.Pro68ArgVAR_012499
91ABCA4p.Gly72ArgVAR_012500
92ABCA4p.Val77GluVAR_012501
93ABCA4p.Ser100ProVAR_012502
94ABCA4p.Ile156ValVAR_012504rs62646863
95ABCA4p.Gln190HisVAR_012505
96ABCA4p.Ser206ArgVAR_012506rs61748536
97ABCA4p.Arg220CysVAR_012508
98ABCA4p.Cys230SerVAR_012509
99ABCA4p.Leu244ProVAR_012510
100ABCA4p.Asn247SerVAR_012511
101ABCA4p.Pro309ArgVAR_012512
102ABCA4p.Glu328ValVAR_012513
103ABCA4p.Arg333TrpVAR_012514
104ABCA4p.Trp339GlyVAR_012515
105ABCA4p.Asn380LysVAR_012516
106ABCA4p.Phe525CysVAR_012518
107ABCA4p.Arg537CysVAR_012519
108ABCA4p.Ala549ProVAR_012520
109ABCA4p.Gly550ArgVAR_012521
110ABCA4p.Arg602GlnVAR_012523
111ABCA4p.Gly607ArgVAR_012524
112ABCA4p.Gly607TrpVAR_012525
113ABCA4p.Gln635LysVAR_012526
114ABCA4p.Gln636HisVAR_012527
115ABCA4p.Val643MetVAR_012528rs143548435
116ABCA4p.Arg653CysVAR_012529
117ABCA4p.Leu686SerVAR_012530
118ABCA4p.Thr716MetVAR_012531
119ABCA4p.Cys764TyrVAR_012532
120ABCA4p.Ser765ArgVAR_012533
121ABCA4p.Ser765AsnVAR_012534
122ABCA4p.Val767AspVAR_012535
123ABCA4p.Leu797ProVAR_012536
124ABCA4p.Ile824ThrVAR_012537
125ABCA4p.Val849AlaVAR_012538rs61749435
126ABCA4p.Ala854ThrVAR_012539
127ABCA4p.Phe873LeuVAR_012541
128ABCA4p.Thr897IleVAR_012542rs61749440
129ABCA4p.Val935AlaVAR_012544
130ABCA4p.Arg943TrpVAR_012545rs61749446
131ABCA4p.Thr959IleVAR_012546
132ABCA4p.Thr971AsnVAR_012547
133ABCA4p.Ser974ProVAR_012549
134ABCA4p.Val989AlaVAR_012550rs139296587
135ABCA4p.Gly991ArgVAR_012551rs147484266
136ABCA4p.Leu1014ArgVAR_012552
137ABCA4p.Thr1019AlaVAR_012553
138ABCA4p.Thr1019MetVAR_012554
139ABCA4p.Glu1022LysVAR_012555
140ABCA4p.Lys1031GluVAR_012556
141ABCA4p.Arg1055TrpVAR_012557
142ABCA4p.Ser1063ProVAR_012558
143ABCA4p.Glu1087AspVAR_012559
144ABCA4p.Gly1091GluVAR_012560
145ABCA4p.Arg1097CysVAR_012561
146ABCA4p.Arg1108CysVAR_012562rs61750120
147ABCA4p.Arg1108HisVAR_012563
148ABCA4p.Arg1108LeuVAR_012564
149ABCA4p.Arg1129CysVAR_012565
150ABCA4p.Leu1250ProVAR_012567
151ABCA4p.Arg1300GlnVAR_012569rs61750129
152ABCA4p.Leu1388ProVAR_012570
153ABCA4p.Glu1399LysVAR_012571
154ABCA4p.Leu1430ProVAR_012572
155ABCA4p.Phe1440ValVAR_012573
156ABCA4p.Arg1443HisVAR_012574
157ABCA4p.Cys1488PheVAR_012575
158ABCA4p.Cys1488TyrVAR_012576
159ABCA4p.Gly1508CysVAR_012577
160ABCA4p.Gln1513ArgVAR_012578
161ABCA4p.Leu1525ProVAR_012579
162ABCA4p.Thr1537MetVAR_012580
163ABCA4p.Arg1640GlnVAR_012583
164ABCA4p.Ser1689ProVAR_012585
165ABCA4p.Val1693IleVAR_012586rs61750563
166ABCA4p.Arg1705LeuVAR_012587
167ABCA4p.Met1733ThrVAR_012588
168ABCA4p.Ser1736ProVAR_012589
169ABCA4p.Gly1748ArgVAR_012590
170ABCA4p.Leu1763ProVAR_012592
171ABCA4p.Pro1776LeuVAR_012593
172ABCA4p.Pro1780AlaVAR_012594
173ABCA4p.Asn1799AspVAR_012595
174ABCA4p.Asn1805AspVAR_012596
175ABCA4p.Val1884GluVAR_012598
176ABCA4p.Glu1885LysVAR_012599
177ABCA4p.Val1896AspVAR_012600
178ABCA4p.Leu1940ProVAR_012602
179ABCA4p.Leu1971ArgVAR_012603
180ABCA4p.Gly1975ArgVAR_012604
181ABCA4p.Leu2035ProVAR_012605
182ABCA4p.Tyr2071PheVAR_012608
183ABCA4p.Arg2077GlyVAR_012609
184ABCA4p.Arg2107CysVAR_012610rs2297669
185ABCA4p.Arg2149LeuVAR_012612
186ABCA4p.Cys2150ArgVAR_012613
187ABCA4p.Leu2229ProVAR_012615
188ABCA4p.Leu2241ValVAR_012616rs61748521
189ABCA4p.Arg2263LeuVAR_012617
190CNGB3p.Tyr469AspVAR_047615rs35365413

Clinvar genetic disease variations for Stargardt Disease:

7 (show all 36)
id Gene Name Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.2798A> T (p.Asn933Ile)single nucleotide variantPathogenicGRCh37Chr 1, 94512595: 94512595
2ABCA4ABCA4, TRP821ARGundetermined variantPathogenic
3ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)single nucleotide variantPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
4ELOVL4ELOVL4, 5-BP DEL, NT797deletionPathogenic
5ELOVL4NM_022726.3(ELOVL4): c.789_793delTAACTinsAAC (p.Asn264Thrfs)indelPathogenicGRCh37Chr 6, 80626477: 80626481
6ELOVL4NM_022726.3(ELOVL4): c.810C> G (p.Tyr270Ter)single nucleotide variantPathogenicrs104893946GRCh37Chr 6, 80626460: 80626460
7CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
8CNGB3NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp)single nucleotide variantPathogenicrs35365413GRCh37Chr 8, 87641222: 87641222
9ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
10ABCA4NM_000350.2(ABCA4): c.2791G> A (p.Val931Met)single nucleotide variantPathogenicrs58331765GRCh37Chr 1, 94512602: 94512602
11ABCA4NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val)single nucleotide variantPathogenicrs121909204GRCh37Chr 1, 94508999: 94508999
12ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)single nucleotide variantPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
13ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)single nucleotide variantPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
14ABCA4NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu)single nucleotide variantPathogenicrs41292677GRCh37Chr 1, 94467548: 94467548
15ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
16ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508433: 94508434
17ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantPathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
18ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
19ABCA4ABCA4, IVS13, G-A, -1single nucleotide variantPathogenic
20ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
21ABCA4ABCA4, IVS5AS, A-G, -2single nucleotide variantPathogenic
22ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
23ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
24ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
25ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
26ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
27ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
28ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
29ABCA4NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala)single nucleotide variantPathogenicrs121909207GRCh37Chr 1, 94480221: 94480221
30ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantPathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
31ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
32ABCA4NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro)single nucleotide variantPathogenicrs61751392GRCh37Chr 1, 94528806: 94528806
33ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
34ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)single nucleotide variantPathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
35ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)single nucleotide variantPathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
36ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)single nucleotide variantPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426

Expression for genes affiliated with Stargardt Disease

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Expression patterns in normal tissues for genes affiliated with Stargardt Disease

Search GEO for disease gene expression data for Stargardt Disease.

Pathways for genes affiliated with Stargardt Disease

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Compounds for genes affiliated with Stargardt Disease

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Sources:
44Novoseek, 25HMDB
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Compounds related to Stargardt Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2510.3RHO, ABCA4
2lipid448.4RHO, PROM1, SMARCA4, ABCA4

GO Terms for genes affiliated with Stargardt Disease

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Cellular components related to Stargardt Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:0973819.5ABCA4, RHO
2photoreceptor inner segmentGO:0019179.1RHO, GNAT2
3photoreceptor outer segment membraneGO:0426229.0RHO, PROM1, GNAT2
4integral component of plasma membraneGO:0058878.9RHO, CNGB3, PROM1, ABCA4
5photoreceptor outer segmentGO:0017508.8RHO, CNGB3, PROM1, GNAT2

Biological processes related to Stargardt Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:0454949.8ABCA4, PROM1
2retinoid metabolic processGO:0015239.6RHO, ABCA4
3phototransduction, visible lightGO:0076039.3RHO, CNGB3, ABCA4
4retina development in camera-type eyeGO:0600419.0RHO, PRPH2
5histone H3 acetylationGO:0439669.0DR1, SMARCA4
6visual perceptionGO:0076018.4RHO, CNGB3, PRPH2, GNAT2, ABCA4

Molecular functions related to Stargardt Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:0080209.7ELOVL4, GNAT2

Products for genes affiliated with Stargardt Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Stargardt Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet