MCID: STR084
MIFTS: 51

Stargardt Disease 1

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Stargardt Disease 1

MalaCards integrated aliases for Stargardt Disease 1:

Name: Stargardt Disease 1 53 71 28 69
Fundus Flavimaculatus 53 71 13 51
Stgd1 53 71 51
Retinal Dystrophy, Early-Onset Severe 53 28
Macular Dystrophy with Flecks, Type 1 53
Macular Dystrophy with Flecks Type 1 71
Macular Degeneration, Juvenile 53
Macular Degeneration Juvenile 72
Juvenile Macular Degeneration 71
Stargardt's Disease 71
Stargardts Disease 51
Stgd 53
Ffm 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
stargardt disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 248200
MeSH 41 D003317
UMLS 69 C1855465

Summaries for Stargardt Disease 1

UniProtKB/Swiss-Prot : 71 Fundus flavimaculatus: Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. Stargardt disease 1: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.

MalaCards based summary : Stargardt Disease 1, also known as fundus flavimaculatus, is related to stargardt macular degeneration and stargardt disease, and has symptoms including macular degeneration, retinitis pigmentosa inversa and bull's eye maculopathy. An important gene associated with Stargardt Disease 1 is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Phototransduction 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 eye and retina, and related phenotypes are nervous system and cardiovascular system

Wikipedia : 72 Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

Description from OMIM: 248200

Related Diseases for Stargardt Disease 1

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 3
Stargardt Disease 4

Diseases related to Stargardt Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 stargardt macular degeneration 31.3 ABCA4 ELOVL4 RHO
2 stargardt disease 30.9 ABCA4 CNGB3 ELOVL4 GNAT2 RHO
3 multifocal pattern dystrophy simulating fundus flavimaculatus 12.2
4 juvenile macular degeneration and hypotrichosis 12.2
5 leber congenital amaurosis 14 11.3
6 severe early-childhood-onset retinal dystrophy 11.3
7 hypotrichosis, congenital, with juvenile macular dystrophy 11.1
8 stargardt disease 4 11.0
9 oligocone trichromacy 10.0 CNGB3 GNAT2
10 colorblindness, partial, protan series 10.0 CNGB3 RHO
11 achromatopsia 4 10.0 CNGB3 GNAT2
12 jalili syndrome 10.0 CNGB3 GNAT2
13 tritanopia 10.0 CNGB3 RHO
14 cone-rod dystrophy 6 10.0 CNGB3 GNAT2
15 graft-versus-host disease 9.9
16 acute graft versus host disease 9.9
17 blue cone monochromacy 9.9 CNGB3 RHO
18 retinitis pigmentosa 7 9.9 RHO ROM1
19 color blindness 9.9 CNGB3 GNAT2
20 red-green color blindness 9.9 ABCA4 CNGB3 RHO
21 degeneration of macula and posterior pole 9.8 ABCA4 ELOVL4 RHO
22 congenital stationary night blindness 9.8 ABCA4 CNGB3 RHO
23 macular degeneration, age-related, 1 9.8 ABCA4 ELOVL4 RHO
24 retinoschisis 1, x-linked, juvenile 9.7 CNGB3 CRX
25 prolonged electroretinal response suppression 9.6 ABCA4 CRX
26 achromatopsia 9.6 CNGB3 GNAT2
27 achromatopsia 3 9.4 CNGB3 CRX GNAT2
28 rhyns syndrome 9.2 ABCA4 CRX RHO ROM1
29 retinal degeneration 9.2 ABCA4 CRX RHO ROM1
30 leber congenital amaurosis 8.9 ABCA4 CNGB3 CRX ELOVL4 RHO
31 cone-rod dystrophy 2 8.8 ABCA4 CNGB3 CRX GNAT2 RHO
32 retinitis pigmentosa 8.8 ABCA4 CRX ELOVL4 RHO ROM1
33 retinal disease 8.6 ABCA4 CNGB3 CRX ELOVL4 RHO ROM1
34 fundus dystrophy 8.4 ABCA4 CNGB3 CRX GNAT2 RHO ROM1

Graphical network of the top 20 diseases related to Stargardt Disease 1:



Diseases related to Stargardt Disease 1

Symptoms & Phenotypes for Stargardt Disease 1

Symptoms via clinical synopsis from OMIM:

53
HEENT:
macular degeneration
central retinitis pigmentosa

Misc:
onset in first 2 decades


Clinical features from OMIM:

248200

Human phenotypes related to Stargardt Disease 1:

31
# Description HPO Frequency HPO Source Accession
1 macular degeneration 31 HP:0000608
2 retinitis pigmentosa inversa 31 HP:0008035
3 bull's eye maculopathy 31 very rare (1%) HP:0011504

MGI Mouse Phenotypes related to Stargardt Disease 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 ABCA4 CNGB3 CRX ELOVL4 GNAT2 RHO
2 cardiovascular system MP:0005385 9.65 ABCA4 CRX GNAT2 RHO ROM1
3 pigmentation MP:0001186 9.26 ELOVL4 RHO ABCA4 CRX
4 vision/eye MP:0005391 9.17 ABCA4 CNGB3 CRX ELOVL4 GNAT2 RHO

Drugs & Therapeutics for Stargardt Disease 1

Drugs for Stargardt Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# 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 68-26-8, 11103-57-4 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 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 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 Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
4 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Recruiting NCT03364153 Phase 2 Zimura
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 Phase I/II Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01367444 Phase 1, Phase 2 SAR422459
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 Not Applicable
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 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
21 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
22 DHA Supplementation in Patients With STGD3 Active, not recruiting NCT00420602 Not Applicable
23 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
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 Disease 1

Genetic Tests for Stargardt Disease 1

Genetic tests related to Stargardt Disease 1:

# Genetic test Affiliating Genes
1 Stargardt Disease 1 28 ABCA4 CNGB3
2 Retinal Dystrophy, Early-Onset Severe 28

Anatomical Context for Stargardt Disease 1

MalaCards organs/tissues related to Stargardt Disease 1:

38
Eye, Retina

Publications for Stargardt Disease 1

Articles related to Stargardt Disease 1:

(show all 35)
# Title Authors Year
1
Intravitreal aflibercept injection and photodynamic treatment of a patient with unilateral subretinal neovascular membrane associated with fundus flavimaculatus. ( 25821619 )
2015
2
Macular electroretinogram in Stargardt's disease/fundus flavimaculatus. ( 25547432 )
2015
3
All That Glitters Are Not Flecks: Inflammatory Choroidal Neovascularization in Fundus Flavimaculatus. ( 24484270 )
2014
4
Multifocal electroretinograms in Stargardt's disease/fundus flavimaculatus. ( 24970593 )
2014
5
Stargardt-Fundus flavimaculatus: recent advancements and treatment. ( 24138045 )
2013
6
Fundus flavimaculatus and choroidal neovascularization in a young patient with normal electroretinography: case report. ( 22687319 )
2012
7
Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation. ( 23341817 )
2012
8
Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. ( 24319520 )
2012
9
Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomography. ( 20579629 )
2010
10
In vivo visualization of photoreceptor layer and lipofuscin accumulation in stargardt's disease and fundus flavimaculatus by high resolution spectral-domain optical coherence tomography. ( 20054419 )
2009
11
Type 3 choroidal neovascularization associated with fundus flavimaculatus. ( 19628956 )
2009
12
What's your diagnosis? Fundus flavimaculatus. ( 19043942 )
2008
13
Ranibizumab for choroidal neovascularization in fundus flavimaculatus. ( 25390102 )
2008
14
Correlation of visual function impairment and OCT findings in patients with Stargardt disease and fundus flavimaculatus. ( 18320517 )
2008
15
Combination therapy of PDT and triamcinolone in CNV associated with fundus flavimaculatus. ( 17458813 )
2007
16
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. ( 17297718 )
2006
17
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538. ( 17297693 )
2006
18
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537. ( 17297692 )
2006
19
Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography. ( 16754647 )
2006
20
Gene symbol: ABCA4. Disease: Stargardt disease 1. ( 17128450 )
2006
21
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. ( 17297691 )
2006
22
Assessment of central visual function in Stargardt's disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography. ( 15623790 )
2005
23
Photodynamic therapy for choroidal neovascularization on late-onset fundus flavimaculatus. ( 16086955 )
2005
24
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. ( 15579991 )
2004
25
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. ( 15234282 )
2004
26
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. ( 12192456 )
2002
27
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. ( 11231769 )
2001
28
L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus. ( 11328755 )
2001
29
[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes]. ( 11151159 )
2000
30
Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus. ( 10509664 )
1999
31
Ophthaproblem. Juvenile macular dystrophy (fundus flavimaculatus or Stargardt's disease). ( 10509215 )
1999
32
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus. ( 10509673 )
1999
33
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. ( 7847373 )
1995
34
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. ( 8035984 )
1994
35
Proliferative vitreoretinopathy in fundus flavimaculatus. ( 1598966 )
1992

Variations for Stargardt Disease 1

UniProtKB/Swiss-Prot genetic disease variations for Stargardt Disease 1:

71 (show top 50) (show all 190)
# Symbol AA change Variation ID SNP ID
1 ABCA4 p.Arg18Trp VAR_008398 rs121909205
2 ABCA4 p.Arg24His VAR_008399 rs62645958
3 ABCA4 p.Cys54Tyr VAR_008400 rs150774447
4 ABCA4 p.Gly65Glu VAR_008401 rs62654395
5 ABCA4 p.Cys75Gly VAR_008402 rs61748526
6 ABCA4 p.Asn96Asp VAR_008403 rs61748529
7 ABCA4 p.Asn96His VAR_008404 rs61748529
8 ABCA4 p.Ala192Thr VAR_008405 rs61748535
9 ABCA4 p.Arg212Cys VAR_008406 rs61750200
10 ABCA4 p.Asp249Gly VAR_008407 rs62646865
11 ABCA4 p.Thr300Asn VAR_008408 rs61748544
12 ABCA4 p.Ser336Cys VAR_008409 rs61748547
13 ABCA4 p.Tyr340Asp VAR_008410 rs61748548
14 ABCA4 p.Ala407Val VAR_008411 rs61751264
15 ABCA4 p.Ser445Arg VAR_008412 rs61748552
16 ABCA4 p.Glu471Lys VAR_008413 rs1800548
17 ABCA4 p.Asp523Glu VAR_008414 rs62646868
18 ABCA4 p.Leu541Pro VAR_008415 rs61751392
19 ABCA4 p.Arg572Pro VAR_008416 rs61748559
20 ABCA4 p.Arg572Gln VAR_008417 rs61748559
21 ABCA4 p.Arg602Trp VAR_008418 rs61749409
22 ABCA4 p.Phe608Ile VAR_008419 rs61752398
23 ABCA4 p.Asp645Asn VAR_008421 rs61749418
24 ABCA4 p.Gly818Glu VAR_008422 rs61750202
25 ABCA4 p.Trp821Arg VAR_008423 rs61749433
26 ABCA4 p.Gly851Asp VAR_008424 rs61749436
27 ABCA4 p.Gly863Ala VAR_008425 rs76157638
28 ABCA4 p.Val931Met VAR_008427 rs58331765
29 ABCA4 p.Gln957Arg VAR_008429 rs61749448
30 ABCA4 p.Asn965Ser VAR_008430 rs201471607
31 ABCA4 p.Gly978Cys VAR_008431 rs61749452
32 ABCA4 p.Glu1036Lys VAR_008432 rs61750061
33 ABCA4 p.Ala1038Val VAR_008433 rs61751374
34 ABCA4 p.Ser1071Leu VAR_008434 rs61750065
35 ABCA4 p.Val1072Ala VAR_008435
36 ABCA4 p.Glu1087Lys VAR_008436 rs61751398
37 ABCA4 p.Thr1112Asn VAR_008437 rs61750122
38 ABCA4 p.Glu1122Lys VAR_008438 rs61751399
39 ABCA4 p.Arg1129Leu VAR_008439 rs1801269
40 ABCA4 p.Leu1201Arg VAR_008440 rs61750126
41 ABCA4 p.Asp1204Asn VAR_008441 rs61750127
42 ABCA4 p.Pro1380Leu VAR_008443 rs61750130
43 ABCA4 p.His1406Tyr VAR_008444 rs61750133
44 ABCA4 p.Trp1408Leu VAR_008445 rs61750134
45 ABCA4 p.Trp1408Arg VAR_008446 rs61750135
46 ABCA4 p.Val1429Ala VAR_008448 rs61752432
47 ABCA4 p.Val1433Ile VAR_008449 rs56357060
48 ABCA4 p.Gly1439Asp VAR_008450 rs61750140
49 ABCA4 p.Phe1440Ser VAR_008451 rs61750141
50 ABCA4 p.Pro1486Leu VAR_008452 rs61750145

ClinVar genetic disease variations for Stargardt Disease 1:

6 (show top 50) (show all 183)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh37 Chromosome 1, 94508999: 94508999
2 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
3 ABCA4 NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61749438 GRCh37 Chromosome 1, 94520689: 94520689
4 ABCA4 NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys) single nucleotide variant Pathogenic rs61750061 GRCh37 Chromosome 1, 94508976: 94508976
5 ABCA4 NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs) insertion Pathogenic rs61750064 GRCh37 Chromosome 1, 94508434: 94508435
6 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
7 ABCA4 NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg) single nucleotide variant Pathogenic rs61753034 GRCh37 Chromosome 1, 94473283: 94473283
8 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
9 ABCA4 NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp) single nucleotide variant Pathogenic rs61748548 GRCh37 Chromosome 1, 94546115: 94546115
10 ABCA4 ABCA4, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
11 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
12 ABCA4 NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909205 GRCh37 Chromosome 1, 94586550: 94586550
13 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
14 ABCA4 NM_000350.2(ABCA4): c.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh37 Chromosome 1, 94544892: 94544892
15 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
16 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh37 Chromosome 1, 94481322: 94481322
17 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
18 ABCA4 NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala) single nucleotide variant Pathogenic rs121909207 GRCh37 Chromosome 1, 94480221: 94480221
19 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
20 ABCA4 NM_000350.2(ABCA4): c.2461T> C (p.Trp821Arg) single nucleotide variant Pathogenic rs61749433 GRCh38 Chromosome 1, 94055237: 94055237
21 ABCA4 NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs61751399 GRCh37 Chromosome 1, 94506923: 94506923
22 ABCA4 NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750120 GRCh37 Chromosome 1, 94508323: 94508323
23 ABCA4 NM_000350.2(ABCA4): c.4540-2A> G single nucleotide variant Pathogenic rs61752435 GRCh37 Chromosome 1, 94490606: 94490606
24 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
25 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
26 ABCA4 NM_000350.2(ABCA4): c.122G> A (p.Trp41Ter) single nucleotide variant Pathogenic rs61751410 GRCh37 Chromosome 1, 94578567: 94578567
27 ABCA4 NM_000350.2(ABCA4): c.1335C> G (p.Ser445Arg) single nucleotide variant Likely pathogenic rs61748552 GRCh37 Chromosome 1, 94544167: 94544167
28 ABCA4 NM_000350.2(ABCA4): c.1609C> T (p.Arg537Cys) single nucleotide variant Likely pathogenic rs61748556 GRCh37 Chromosome 1, 94528819: 94528819
29 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
30 ABCA4 NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
31 ABCA4 NM_000350.2(ABCA4): c.1760+2T> G single nucleotide variant Pathogenic rs61751385 GRCh37 Chromosome 1, 94528666: 94528666
32 ABCA4 NM_000350.2(ABCA4): c.1789C> T (p.Pro597Ser) single nucleotide variant Likely pathogenic rs61751393 GRCh37 Chromosome 1, 94528281: 94528281
33 ABCA4 NM_000350.2(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Likely pathogenic rs55732384 GRCh37 Chromosome 1, 94577117: 94577117
34 ABCA4 NM_000350.2(ABCA4): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61749409 GRCh37 Chromosome 1, 94528266: 94528266
35 ABCA4 NM_000350.2(ABCA4): c.1819G> A (p.Gly607Arg) single nucleotide variant Likely pathogenic rs61749412 GRCh37 Chromosome 1, 94528251: 94528251
36 ABCA4 NM_000350.2(ABCA4): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs61749414 GRCh37 Chromosome 1, 94528167: 94528167
37 ABCA4 NM_000350.2(ABCA4): c.1937+1G> A single nucleotide variant Pathogenic rs61752401 GRCh37 Chromosome 1, 94528132: 94528132
38 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh37 Chromosome 1, 94526316: 94526316
39 ABCA4 NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic/Likely pathogenic rs62654395 GRCh37 Chromosome 1, 94577102: 94577102
40 ABCA4 NM_000350.2(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 GRCh37 Chromosome 1, 94526296: 94526296
41 ABCA4 NM_000350.2(ABCA4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs201738997 GRCh37 Chromosome 1, 94586601: 94586601
42 ABCA4 NM_000350.2(ABCA4): c.203C> G (p.Pro68Arg) single nucleotide variant Likely pathogenic rs62654397 GRCh37 Chromosome 1, 94577093: 94577093
43 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212
44 ABCA4 NM_000350.2(ABCA4): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs61748526 GRCh37 Chromosome 1, 94577073: 94577073
45 ABCA4 NM_000350.2(ABCA4): c.2291G> A (p.Cys764Tyr) single nucleotide variant Likely pathogenic rs61749428 GRCh37 Chromosome 1, 94522248: 94522248
46 ABCA4 NM_000350.2(ABCA4): c.2300T> A (p.Val767Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61751395 GRCh37 Chromosome 1, 94522239: 94522239
47 ABCA4 NM_000350.2(ABCA4): c.2564G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61752406 GRCh37 Chromosome 1, 94520690: 94520690
48 ABCA4 NM_000350.2(ABCA4): c.296dupA (p.Asn99Lysfs) duplication Pathogenic rs62645948 GRCh37 Chromosome 1, 94577000: 94577000
49 ABCA4 NM_000350.2(ABCA4): c.3064G> A (p.Glu1022Lys) single nucleotide variant Likely pathogenic rs61749459 GRCh37 Chromosome 1, 94509018: 94509018
50 ABCA4 NM_000350.2(ABCA4): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs61751397 GRCh37 Chromosome 1, 94508997: 94508997

Copy number variations for Stargardt Disease 1 from CNVD:

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

Expression for Stargardt Disease 1

Search GEO for disease gene expression data for Stargardt Disease 1.

Pathways for Stargardt Disease 1

GO Terms for Stargardt Disease 1

Cellular components related to Stargardt Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.62 ABCA4 CNGB3 RHO ROM1
2 photoreceptor inner segment GO:0001917 9.26 GNAT2 RHO
3 photoreceptor disc membrane GO:0097381 9.16 ABCA4 RHO
4 photoreceptor outer segment membrane GO:0042622 9.13 GNAT2 RHO ROM1
5 photoreceptor outer segment GO:0001750 8.92 ABCA4 CNGB3 GNAT2 RHO

Biological processes related to Stargardt Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.37 ABCA4 RHO
2 response to stimulus GO:0050896 9.35 ABCA4 CNGB3 CRX GNAT2 RHO
3 photoreceptor cell maintenance GO:0045494 9.32 ABCA4 RHO
4 phototransduction GO:0007602 9.26 GNAT2 RHO
5 phototransduction, visible light GO:0007603 9.16 ABCA4 RHO
6 visual perception GO:0007601 9.1 ABCA4 CNGB3 CRX GNAT2 RHO ROM1

Molecular functions related to Stargardt Disease 1 according to GeneCards Suite gene sharing:

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

Sources for Stargardt Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....