MCID: STR022
MIFTS: 74

Stargardt Disease malady

Eye diseases category

Summaries for Stargardt Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Stargardt Disease, also known as stargardt disease 1, is related to retinitis and retinal disease. An important gene associated with Stargardt Disease is ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4), and among its related pathways are Fatty Acyl-CoA Biosynthesis and Biosynthesis of unsaturated fatty acids. The drugs interferon alfa-2a and interferon alfa-2b and the compounds 11-cis-retinol and retinoid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related mouse phenotypes are cardiovascular system and pigmentation.

Disease Ontology:8 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Wikipedia:63 Stargardt disease, or fundus flavimaculatus, is an inherited form of juvenile macular degeneration that... more...

Description from OMIM:46 248200,600110,603786

Aliases & Classifications for Stargardt Disease

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Sources:
32MalaCards, 8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 46OMIM, 44Novoseek, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: 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


Aliases & Descriptions:

stargardt disease 32 8 42 20 22 48 30
stargardt disease 1 8 22 46 60
juvenile onset macular degeneration 42
age related macular degeneration 60
macular dystrophy with flecks 48
stargardt macular dystrophy 42
fundus flavimaculatus 48
stargardt disease-1 32
stargardt's disease 60
stargardts disease 44


External Ids:

Disease Ontology8 DOID:0050817
SNOMED-CT via Orphanet57 47673003, 70099003
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0271093

Related Diseases for Stargardt Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Stargardt Disease family:

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 top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.1RHO
2retinal disease31.0CRB1, CRX, RHO, PRPH2, ABCA4
3fundus dystrophy30.8CRB1, CRX, RHO, ABCA4
4age related macular degeneration30.7RHO
5vitelliform macular dystrophy30.7PRPH2
6stargardt disease 330.5ELOVL4
7retinal degeneration30.3CRB1, CRX, RHO, PROM1, PRPH2, ABCA4
8eye disease30.2ABCA4, RHO
9leber congenital amaurosis29.9CRB1, CRX, RHO, PRPH2
10retinoblastoma29.9SMARCA4, PROM1, RHO, CRX, GNAT2
11cataract10.7
12diabetic retinopathy10.7
13age-related macular degeneration 110.6
14diabetic macular edema10.6
15glaucoma10.6
16retinal detachment10.6
17atherosclerosis10.6
18retinitis pigmentosa10.5
19refractive error10.5
20age-related macular degeneration 210.5
21age-related macular degeneration 810.5
22autosomal recessive disease10.5
23retinal drusen10.4
24kuhnt-junius degeneration10.4
25pneumonia10.4
26vascular disease10.4
27age-related macular degeneration 310.4
28age-related macular degeneration 410.4
29age-related macular degeneration 510.4
30age-related macular degeneration 610.4
31age-related macular degeneration 710.4
32age-related macular degeneration 910.4
33stargardt disease 410.4
34cutis laxa10.4
35alzheimer's disease10.4
36vitreous detachment10.4
37complement deficiency10.4
38hepatitis10.4
39myopia10.4
40uveitis10.4
41best vitelliform macular dystrophy10.4
42multifocal pattern dystrophy simulating fundus flavimaculatus10.3
43cone-rod dystrophy10.3
44cone dystrophy10.3
45chromosomal disease10.3
46stargardt disease, autosomal recessive10.2
47abca4-related stargardt disease 110.2
48cngb3-related stargardt disease 110.2
49coronary artery disease10.2
50parametritis10.2

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



Diseases related to stargardt disease

Clinical Features for Stargardt Disease

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46OMIM
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Clinical features from OMIM:

248200,600110,603786

Clinical synopsis from OMIM:

248200

Drugs & Therapeutics for Stargardt Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Stargardt Disease

Drug clinical trials:

Search ClinicalTrials for Stargardt Disease

Search NIH Clinical Center for Stargardt Disease

Search CenterWatch for Stargardt Disease

Inferred drug relations via UMLS60/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.

Genetic Tests for Stargardt Disease

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20GeneTests, 22GTR
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Genetic tests related to Stargardt Disease:

id Genetic test Affiliating Genes
1 Stargardt Disease Multi-Gene Panels20
2 Stargardt Disease 122
3 Stargardt's Disease22

Anatomical Context for Stargardt Disease

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Sources:
30LifeMap Discovery™, 32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Stargardt Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3RHO, PROM1, PRPH2, ABCA4, SMARCA4, GNAT2
2MP:00011868.1ELOVL4, CRB1, CRX, RHO, PROM1, PRPH2
3MP:00053917.4GNAT2, CRB1, CRX, RHO, PROM1, PRPH2
4MP:00036316.6GNAT2, CRB1, CRX, RHO, PROM1, PRPH2

Publications for Stargardt Disease

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Sources:
50PubMed
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Articles related to Stargardt Disease:

(show top 50)    (show all 145)
idTitleAuthorsYear
1
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
2
ASSOCIATION OF DARK-ADAPTED VISUAL FUNCTION WITH RETINAL STRUCTURAL CHANGES IN PATIENTS WITH STARGARDT DISEASE. (24280667)
2013
3
THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE. (24317291)
2013
4
A longitudinal study of stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. (24265018)
2013
5
Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients. (24342785)
2013
6
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. (23499370)
2013
7
Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease. (23219216)
2013
8
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. (23918662)
2013
9
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. (22661472)
2012
10
Progression of retinal pigment epithelial atrophy in stargardt disease. (22464366)
2012
11
Fundus autofluorescence patterns in stargardt disease over time. (23044968)
2012
12
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. (23096905)
2012
13
Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4. (23144455)
2012
14
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. (22863181)
2012
15
Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time. (21987580)
2012
16
C20-D3-vitamin A slows lipofuscin accumulation and electrophysiological retinal degeneration in a mouse model of Stargardt disease. (21156790)
2011
17
Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene. (20163366)
2011
18
Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease. (21310908)
2011
19
Infrared scanning laser ophthalmoscope imaging of the macula and its correlation with functional loss and structural changes in patients with stargardt disease. (21293320)
2011
20
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease. (20398653)
2010
21
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (20108396)
2010
22
Educational levels in patients with stargardt disease. (20688312)
2010
23
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (19265867)
2010
24
Loss of peripapillary sparing in non-group I Stargardt disease. (20696155)
2010
25
Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease. (20128570)
2010
26
Preimplantation genetic diagnosis for stargardt disease. (20149343)
2010
27
Peripapillary atrophy in Stargardt disease. (18854780)
2009
28
Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease. (19628494)
2009
29
Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (18386363)
2007
30
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. (17277736)
2007
31
Quantifying fixation in patients with Stargardt disease. (17562343)
2007
32
The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model. (18048333)
2007
33
Gene symbol: ABCA4. Disease: Stargardt disease 1. (17128450)
2006
34
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537. (17297692)
2006
35
Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation. (16703556)
2006
36
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538. (17297693)
2006
37
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease. (15161829)
2004
38
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. (15579991)
2004
39
Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation. (15223829)
2004
40
Stargardt disease in a patient with retinoblastoma. (14609928)
2003
41
From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa]. (12224481)
2002
42
Potential implications for pathophysiology in a type 1 diabetic patient affected by Stargardt disease. (12729035)
2002
43
ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans-retinal-mediated photooxidative damage in vitro. Implications for retinal disease. (11278627)
2001
44
Improvement in macular function after epiretinal membrane removal in a patient with Stargardt disease. (11039441)
2000
45
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. (10205271)
1999
46
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. (9973280)
1999
47
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. (9425888)
1998
48
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). (9719369)
1998
49
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
50
Genetic fine mapping of the gene for recessive Stargardt disease. (8792830)
1996

Genetic Variations for Stargardt Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Stargardt Disease:

62 (show all 203)
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.Leu541ProVAR_008415
20ABCA4p.Arg572ProVAR_008416
21ABCA4p.Arg572GlnVAR_008417
22ABCA4p.Arg602TrpVAR_008418
23ABCA4p.Phe608IleVAR_008419
24ABCA4p.Asp645AsnVAR_008421
25ABCA4p.Gly818GluVAR_008422
26ABCA4p.Trp821ArgVAR_008423
27ABCA4p.Gly851AspVAR_008424
28ABCA4p.Gly863AlaVAR_008425rs76157638
29ABCA4p.Gly863AlaVAR_008425rs76157638
30ABCA4p.Val931MetVAR_008427rs58331765
31ABCA4p.Gln957ArgVAR_008429
32ABCA4p.Asn965SerVAR_008430
33ABCA4p.Gly978CysVAR_008431
34ABCA4p.Glu1036LysVAR_008432
35ABCA4p.Ala1038ValVAR_008433rs61751374
36ABCA4p.Ala1038ValVAR_008433rs61751374
37ABCA4p.Ser1071LeuVAR_008434
38ABCA4p.Val1072AlaVAR_008435
39ABCA4p.Glu1087LysVAR_008436
40ABCA4p.Thr1112AsnVAR_008437
41ABCA4p.Glu1122LysVAR_008438
42ABCA4p.Arg1129LeuVAR_008439rs1801269
43ABCA4p.Leu1201ArgVAR_008440rs61750126
44ABCA4p.Asp1204AsnVAR_008441
45ABCA4p.Pro1380LeuVAR_008443
46ABCA4p.His1406TyrVAR_008444
47ABCA4p.Trp1408LeuVAR_008445
48ABCA4p.Trp1408ArgVAR_008446
49ABCA4p.Val1429AlaVAR_008448
50ABCA4p.Val1433IleVAR_008449rs56357060
51ABCA4p.Gly1439AspVAR_008450
52ABCA4p.Phe1440SerVAR_008451
53ABCA4p.Pro1486LeuVAR_008452
54ABCA4p.Cys1488ArgVAR_008453
55ABCA4p.Cys1488ArgVAR_008453
56ABCA4p.Cys1490TyrVAR_008454
57ABCA4p.Thr1526MetVAR_008456
58ABCA4p.Asp1532AsnVAR_008457
59ABCA4p.Ile1562ThrVAR_008458rs1762111
60ABCA4p.Ile1562ThrVAR_008458rs1762111
61ABCA4p.Leu1631ProVAR_008460
62ABCA4p.Arg1640TrpVAR_008461
63ABCA4p.Tyr1652AspVAR_008462
64ABCA4p.Ser1696AsnVAR_008463
65ABCA4p.Gln1703LysVAR_008464
66ABCA4p.Leu1729ProVAR_008465
67ABCA4p.Ala1794AspVAR_008466
68ABCA4p.Arg1820ProVAR_008467
69ABCA4p.His1838TyrVAR_008468
70ABCA4p.Arg1843TrpVAR_008469
71ABCA4p.Gly1886GluVAR_008471
72ABCA4p.Arg1898HisVAR_008473rs1800552
73ABCA4p.Gly1961GluVAR_008475rs1800553
74ABCA4p.Gly1961GluVAR_008475rs1800553
75ABCA4p.Leu1970PheVAR_008476rs1800554
76ABCA4p.Gly1977SerVAR_008477
77ABCA4p.Leu2027PheVAR_008478rs61751408
78ABCA4p.Leu2027PheVAR_008478rs61751408
79ABCA4p.Arg2030GlnVAR_008480rs61750641
80ABCA4p.Arg2030GlnVAR_008480rs61750641
81ABCA4p.Val2050LeuVAR_008481rs41292677
82ABCA4p.Arg2077TrpVAR_008482
83ABCA4p.Glu2096LysVAR_008483
84ABCA4p.Arg2106CysVAR_008484
85ABCA4p.Arg2106CysVAR_008484
86ABCA4p.Arg2107HisVAR_008485rs62642564
87ABCA4p.His2128ArgVAR_008486
88ABCA4p.Glu2131LysVAR_008487
89ABCA4p.Arg2139TrpVAR_008488
90ABCA4p.Cys2150TyrVAR_008489
91ABCA4p.Lys2160ArgVAR_008490
92ABCA4p.Ala60ValVAR_008492
93ABCA4p.Arg2038TrpVAR_008495
94ABCA4p.Leu11ProVAR_012493
95ABCA4p.Asn58LysVAR_012495
96ABCA4p.Ala60GluVAR_012496
97ABCA4p.Ala60ThrVAR_012497
98ABCA4p.Pro68LeuVAR_012498
99ABCA4p.Pro68ArgVAR_012499
100ABCA4p.Gly72ArgVAR_012500
101ABCA4p.Val77GluVAR_012501
102ABCA4p.Ser100ProVAR_012502
103ABCA4p.Ile156ValVAR_012504rs62646863
104ABCA4p.Gln190HisVAR_012505
105ABCA4p.Ser206ArgVAR_012506rs61748536
106ABCA4p.Arg220CysVAR_012508
107ABCA4p.Cys230SerVAR_012509
108ABCA4p.Leu244ProVAR_012510
109ABCA4p.Asn247SerVAR_012511
110ABCA4p.Pro309ArgVAR_012512
111ABCA4p.Glu328ValVAR_012513
112ABCA4p.Arg333TrpVAR_012514
113ABCA4p.Trp339GlyVAR_012515
114ABCA4p.Asn380LysVAR_012516
115ABCA4p.Phe525CysVAR_012518
116ABCA4p.Arg537CysVAR_012519
117ABCA4p.Ala549ProVAR_012520
118ABCA4p.Gly550ArgVAR_012521
119ABCA4p.Arg602GlnVAR_012523
120ABCA4p.Gly607ArgVAR_012524
121ABCA4p.Gly607TrpVAR_012525
122ABCA4p.Gln635LysVAR_012526
123ABCA4p.Gln636HisVAR_012527
124ABCA4p.Val643MetVAR_012528rs143548435
125ABCA4p.Arg653CysVAR_012529
126ABCA4p.Leu686SerVAR_012530
127ABCA4p.Thr716MetVAR_012531
128ABCA4p.Cys764TyrVAR_012532
129ABCA4p.Ser765ArgVAR_012533
130ABCA4p.Ser765AsnVAR_012534
131ABCA4p.Val767AspVAR_012535
132ABCA4p.Leu797ProVAR_012536
133ABCA4p.Ile824ThrVAR_012537
134ABCA4p.Val849AlaVAR_012538rs61749435
135ABCA4p.Ala854ThrVAR_012539
136ABCA4p.Phe873LeuVAR_012541
137ABCA4p.Thr897IleVAR_012542rs61749440
138ABCA4p.Val935AlaVAR_012544
139ABCA4p.Arg943TrpVAR_012545rs61749446
140ABCA4p.Arg943TrpVAR_012545rs61749446
141ABCA4p.Thr959IleVAR_012546
142ABCA4p.Thr971AsnVAR_012547
143ABCA4p.Ser974ProVAR_012549
144ABCA4p.Val989AlaVAR_012550rs139296587
145ABCA4p.Gly991ArgVAR_012551rs147484266
146ABCA4p.Leu1014ArgVAR_012552
147ABCA4p.Thr1019AlaVAR_012553
148ABCA4p.Thr1019MetVAR_012554
149ABCA4p.Glu1022LysVAR_012555
150ABCA4p.Lys1031GluVAR_012556
151ABCA4p.Arg1055TrpVAR_012557
152ABCA4p.Ser1063ProVAR_012558
153ABCA4p.Glu1087AspVAR_012559
154ABCA4p.Gly1091GluVAR_012560
155ABCA4p.Arg1097CysVAR_012561
156ABCA4p.Arg1108CysVAR_012562rs61750120
157ABCA4p.Arg1108CysVAR_012562rs61750120
158ABCA4p.Arg1108HisVAR_012563
159ABCA4p.Arg1108LeuVAR_012564
160ABCA4p.Arg1129CysVAR_012565
161ABCA4p.Leu1250ProVAR_012567
162ABCA4p.Arg1300GlnVAR_012569rs61750129
163ABCA4p.Leu1388ProVAR_012570
164ABCA4p.Glu1399LysVAR_012571
165ABCA4p.Leu1430ProVAR_012572
166ABCA4p.Phe1440ValVAR_012573
167ABCA4p.Arg1443HisVAR_012574
168ABCA4p.Cys1488PheVAR_012575
169ABCA4p.Cys1488TyrVAR_012576
170ABCA4p.Gly1508CysVAR_012577
171ABCA4p.Gln1513ArgVAR_012578
172ABCA4p.Leu1525ProVAR_012579
173ABCA4p.Thr1537MetVAR_012580
174ABCA4p.Arg1640GlnVAR_012583
175ABCA4p.Arg1640GlnVAR_012583
176ABCA4p.Ser1689ProVAR_012585
177ABCA4p.Val1693IleVAR_012586rs61750563
178ABCA4p.Arg1705LeuVAR_012587
179ABCA4p.Met1733ThrVAR_012588
180ABCA4p.Ser1736ProVAR_012589
181ABCA4p.Gly1748ArgVAR_012590
182ABCA4p.Leu1763ProVAR_012592
183ABCA4p.Pro1776LeuVAR_012593
184ABCA4p.Pro1780AlaVAR_012594
185ABCA4p.Asn1799AspVAR_012595
186ABCA4p.Asn1805AspVAR_012596
187ABCA4p.Val1884GluVAR_012598
188ABCA4p.Glu1885LysVAR_012599
189ABCA4p.Val1896AspVAR_012600
190ABCA4p.Leu1940ProVAR_012602
191ABCA4p.Leu1940ProVAR_012602
192ABCA4p.Leu1971ArgVAR_012603
193ABCA4p.Gly1975ArgVAR_012604
194ABCA4p.Leu2035ProVAR_012605
195ABCA4p.Tyr2071PheVAR_012608
196ABCA4p.Arg2077GlyVAR_012609
197ABCA4p.Arg2107CysVAR_012610rs2297669
198ABCA4p.Arg2149LeuVAR_012612
199ABCA4p.Cys2150ArgVAR_012613
200ABCA4p.Leu2229ProVAR_012615
201ABCA4p.Leu2241ValVAR_012616rs61748521
202ABCA4p.Arg2263LeuVAR_012617
203CNGB3p.Tyr469AspVAR_047615rs35365413

Expression for genes affiliated with Stargardt Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Stargardt Disease

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Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Stargardt Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2410.5ABCA4, RHO
2retinoid449.5ABCA4, RHO, CRX

GO Terms for genes affiliated with Stargardt Disease

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Sources:
16Gene Ontology
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Cellular components related to Stargardt Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019179.8RHO, GNAT2
2photoreceptor disc membraneGO:0973819.5ABCA4, RHO
3photoreceptor outer segment membraneGO:0426229.4GNAT2, RHO, PROM1
4photoreceptor outer segmentGO:0017509.2CNGB3, PROM1, RHO, GNAT2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:04549410.0ABCA4, PROM1
2retinoid metabolic processGO:0015239.8ABCA4, RHO
3fatty acid elongation, saturated fatty acidGO:0193679.7ELOVL7, ELOVL4
4very long-chain fatty acid biosynthetic processGO:0427619.7ELOVL7, ELOVL4
5phototransduction, visible lightGO:0076039.7RHO, CNGB3, ABCA4
6long-chain fatty-acyl-CoA biosynthetic processGO:0353389.6ELOVL7, ELOVL4
7retina development in camera-type eyeGO:0600419.5CRX, RHO, PRPH2
8triglyceride biosynthetic processGO:0194329.3ELOVL4, ELOVL7
9histone H3 acetylationGO:0439669.0DR1, SMARCA4
10visual perceptionGO:0076018.6ABCA4, CNGB3, PRPH2, RHO, CRX, GNAT2

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:0080209.6ELOVL4, GNAT2
2transferase activityGO:0167409.6ELOVL7, ELOVL4

Products for genes affiliated with Stargardt Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stargardt Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet