STGD1
MCID: STR084
MIFTS: 54

Stargardt Disease 1 (STGD1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Stargardt Disease 1

MalaCards integrated aliases for Stargardt Disease 1:

Name: Stargardt Disease 1 58 76 30 6 74
Fundus Flavimaculatus 58 76 13 56
Retinal Dystrophy, Early-Onset Severe 58 30 6
Stgd1 58 76 56
Macular Dystrophy with Flecks, Type 1 58
Macular Dystrophy with Flecks Type 1 76
Macular Degeneration, Juvenile 58
Macular Degeneration Juvenile 77
Juvenile Macular Degeneration 76
Stargardt's Disease 76
Stargardts Disease 56
Stgd 58
Ffm 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
stargardt disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 248200
MeSH 45 D003317
UMLS 74 C1855465

Summaries for Stargardt Disease 1

UniProtKB/Swiss-Prot : 76 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. 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, retina and testes, and related phenotypes are bull's eye maculopathy and macular degeneration

Wikipedia : 77 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 top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 stargardt macular degeneration 31.7 ABCA4 ELOVL4 RHO
2 stargardt disease 31.2 ABCA4 CNGB3 ELOVL4 GNAT2 MFSD8 RHO
3 yemenite deaf-blind hypopigmentation syndrome 30.2 ABCA4 RHO
4 retinitis pigmentosa 7 30.2 RHO ROM1
5 retinitis pigmentosa 19 30.1 ABCA4 RHO
6 macular degeneration, age-related, 1 29.9 ABCA4 ELOVL4 RHO
7 congenital stationary night blindness 29.8 ABCA4 CNGB3 RHO
8 retinal degeneration 29.4 ABCA4 CRX RHO ROM1
9 cone-rod dystrophy 2 29.1 ABCA4 CRX GNAT2 RHO
10 leber congenital amaurosis 28.7 ABCA4 CNGB3 CRX ELOVL4 RHO
11 retinitis pigmentosa 28.4 ABCA4 CRX ELOVL4 MFSD8 RHO ROM1
12 fundus dystrophy 28.3 ABCA4 CNGB3 CRX GNAT2 RHO ROM1
13 multifocal pattern dystrophy simulating fundus flavimaculatus 12.5
14 stargardt disease 3 12.5
15 juvenile macular degeneration and hypotrichosis 12.4
16 leber congenital amaurosis 14 11.6
17 severe early-childhood-onset retinal dystrophy 11.6
18 hypotrichosis, congenital, with juvenile macular dystrophy 11.3
19 stargardt disease 4 11.2
20 bestrophinopathy 11.1
21 oguchi disease 11.1
22 personality disorder 10.2
23 degos 'en cocarde' erythrokeratoderma 10.2
24 macular degeneration, age-related, 2 10.2
25 cone-rod dystrophy 7 10.2 ABCA4 ELOVL4
26 macular dystrophy, patterned, 1 10.2
27 vitreoretinopathy, neovascular inflammatory 10.2
28 lymphoma 10.2
29 myopia 10.2
30 refractive error 10.2
31 cone-rod dystrophy 3 10.1
32 graft-versus-host disease 10.1
33 pelvic inflammatory disease 10.1
34 acute graft versus host disease 10.1
35 color blindness 10.1 CNGB3 GNAT2
36 macular holes 10.1
37 choroid disease 10.1 CNGB3 RHO
38 achromatopsia 10.1 CNGB3 GNAT2
39 colorblindness, partial, protan series 10.1 CNGB3 RHO
40 oligocone trichromacy 10.1 CNGB3 GNAT2
41 choroideremia 10.1
42 leber congenital amaurosis 4 10.1
43 retinitis 10.1
44 achromatopsia 4 10.1 CNGB3 GNAT2
45 jalili syndrome 10.0 CNGB3 GNAT2
46 tritanopia 10.0 CNGB3 RHO
47 blue cone monochromacy 10.0 CNGB3 RHO
48 macular dystrophy, concentric annular 10.0 ABCA4 CRX
49 cone-rod dystrophy 6 10.0 CNGB3 GNAT2
50 red-green color blindness 10.0 ABCA4 CNGB3 RHO

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



Diseases related to Stargardt Disease 1

Symptoms & Phenotypes for Stargardt Disease 1

Human phenotypes related to Stargardt Disease 1:

33
# Description HPO Frequency HPO Source Accession
1 bull's eye maculopathy 33 very rare (1%) HP:0011504
2 macular degeneration 33 HP:0000608
3 retinitis pigmentosa inversa 33 HP:0008035

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
macular degeneration
central retinitis pigmentosa

Misc:
onset in first 2 decades

Clinical features from OMIM:

248200

MGI Mouse Phenotypes related to Stargardt Disease 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.76 ABCA4 CNGB3 CRX ELOVL4 GNAT2 MFSD8
2 cardiovascular system MP:0005385 9.73 ABCA4 CRX GNAT2 MFSD8 RHO ROM1
3 pigmentation MP:0001186 9.35 ABCA4 CRX ELOVL4 MFSD8 RHO
4 vision/eye MP:0005391 9.23 ABCA4 CNGB3 CRX ELOVL4 GNAT2 MFSD8

Drugs & Therapeutics for Stargardt Disease 1

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved Phase 2,Phase 1 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
3 Vitamins Phase 2,Phase 1
4 retinol Phase 2,Phase 1
5 Retinol palmitate Phase 2,Phase 1
6
Retinol acetate Phase 2,Phase 1 127-47-9 10245972
7 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2
8 Complement System Proteins Phase 2
9 Immunologic Factors Phase 2
10 Complement C5 Phase 2
11
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
12 Protective Agents Phase 1
13 Antidotes Phase 1
14 Omega 3 Fatty Acid Phase 1,Not Applicable
15 Sunflower Not Applicable

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Emixustat in Stargardt Disease Recruiting NCT03772665 Phase 3 Emixustat;Placebo
2 Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
3 Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular Dystrophy Completed NCT01345006 Phase 1, Phase 2
4 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
5 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
6 Phase I/II Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01367444 Phase 1, Phase 2 SAR422459
7 Stem Cell Therapy for Outer Retinal Degenerations Recruiting NCT02903576 Phase 1, Phase 2
8 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Active, not recruiting NCT03364153 Phase 2 Zimura
9 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
10 Phase I/II Follow-up Study of SAR422459 in Patients With Stargardt's Macular Degeneration Enrolling by invitation NCT01736592 Phase 1, Phase 2 SAR422459 administered in previous study TDU13583
11 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
12 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole
13 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
14 Stem Cells Therapy in Degenerative Diseases of the Retina Enrolling by invitation NCT03772938 Phase 1
15 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Completed NCT02410122
16 A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies Completed NCT01977846
17 DHA Supplementation in Patients With STGD3 Completed NCT00420602 Not Applicable
18 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
19 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Recruiting NCT03297515 Not Applicable
20 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
21 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
22 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
23 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
24 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
25 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
26 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
27 Objective Assessment of Macular Function at Retinal and Cortical Levels Not yet recruiting NCT03517241
28 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 30 ABCA4 CNGB3
2 Retinal Dystrophy, Early-Onset Severe 30

Anatomical Context for Stargardt Disease 1

MalaCards organs/tissues related to Stargardt Disease 1:

42
Eye, Retina, Testes, Heart, Tongue

Publications for Stargardt Disease 1

Articles related to Stargardt Disease 1:

(show top 50) (show all 120)
# Title Authors Year
1
Hyperreflective foci in Stargardt disease: 1-year follow-up. ( 30374616 )
2019
2
Multimodality imaging in the study of fundus flavimaculatus. ( 29496231 )
2018
3
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus. ( 27380982 )
2016
4
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
5
All that glitters are not flecks: inflammatory choroidal neovascularization in fundus flavimaculatus. ( 24484270 )
2015
6
Macular electroretinogram in Stargardt's disease/fundus flavimaculatus. ( 25547432 )
2015
7
Intravitreal aflibercept injection and photodynamic treatment of a patient with unilateral subretinal neovascular membrane associated with fundus flavimaculatus. ( 25821619 )
2015
8
Multifocal electroretinograms in Stargardt's disease/fundus flavimaculatus. ( 24970593 )
2014
9
Stargardt-Fundus flavimaculatus: recent advancements and treatment. ( 24138045 )
2013
10
Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. ( 24319520 )
2012
11
Fundus flavimaculatus and choroidal neovascularization in a young patient with normal electroretinography: case report. ( 22687319 )
2012
12
Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation. ( 23341817 )
2012
13
Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomography. ( 20579629 )
2010
14
Type 3 choroidal neovascularization associated with fundus flavimaculatus. ( 19628956 )
2009
15
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
16
Correlation of visual function impairment and OCT findings in patients with Stargardt disease and fundus flavimaculatus. ( 18320517 )
2008
17
What's your diagnosis? Fundus flavimaculatus. ( 19043942 )
2008
18
Ranibizumab for choroidal neovascularization in fundus flavimaculatus. ( 25390102 )
2008
19
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. ( 18285826 )
2008
20
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. ( 17265047 )
2007
21
Combination therapy of PDT and triamcinolone in CNV associated with fundus flavimaculatus. ( 17458813 )
2007
22
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. ( 17504850 )
2007
23
Case of Stargardt disease caused by uniparental isodisomy. ( 16682602 )
2006
24
Gene symbol: ABCA4. Disease: Stargardt disease 1. ( 17128450 )
2006
25
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. ( 17297691 )
2006
26
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537. ( 17297692 )
2006
27
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538. ( 17297693 )
2006
28
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. ( 17297718 )
2006
29
Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography. ( 16754647 )
2006
30
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. ( 16546111 )
2006
31
Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. ( 16400609 )
2006
32
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. ( 15712225 )
2005
33
Assessment of central visual function in Stargardt's disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography. ( 15623790 )
2005
34
Photodynamic therapy for choroidal neovascularization on late-onset fundus flavimaculatus. ( 16086955 )
2005
35
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. ( 16103129 )
2005
36
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. ( 15579991 )
2004
37
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. ( 15234282 )
2004
38
Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. ( 15516930 )
2004
39
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. ( 15192030 )
2004
40
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. ( 12796258 )
2003
41
Photodynamic therapy for choroidal neovascularization in fundus flavimaculatus. ( 11884891 )
2002
42
Altered recovery of macular function after bleaching in Stargardt's disease-fundus flavimaculatus: pattern VEP evidence. ( 12147611 )
2002
43
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. ( 12192456 )
2002
44
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. ( 11919200 )
2002
45
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. ( 11973624 )
2002
46
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. ( 11231769 )
2001
47
L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus. ( 11328755 )
2001
48
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. ( 11385708 )
2001
49
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. ( 10958649 )
2000
50
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. ( 10746567 )
2000

Variations for Stargardt Disease 1

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

76 (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 490)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh37 Chromosome 8, 87656009: 87656009
2 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh38 Chromosome 8, 86643781: 86643781
3 CNGB3 NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35365413 GRCh37 Chromosome 8, 87641222: 87641222
4 CNGB3 NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35365413 GRCh38 Chromosome 8, 86628994: 86628994
5 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh38 Chromosome 1, 94043443: 94043443
6 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh37 Chromosome 1, 94508999: 94508999
7 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh37 Chromosome 1, 94517254: 94517254
8 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh38 Chromosome 1, 94051698: 94051698
9 ABCA4 NM_000350.2(ABCA4): c.2791G> A (p.Val931Met) single nucleotide variant Conflicting interpretations of pathogenicity rs58331765 GRCh37 Chromosome 1, 94512602: 94512602
10 ABCA4 NM_000350.2(ABCA4): c.2791G> A (p.Val931Met) single nucleotide variant Conflicting interpretations of pathogenicity rs58331765 GRCh38 Chromosome 1, 94047046: 94047046
11 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
12 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh38 Chromosome 1, 94005509: 94005509
13 ABCA4 NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61749438 GRCh37 Chromosome 1, 94520689: 94520689
14 ABCA4 NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61749438 GRCh38 Chromosome 1, 94055133: 94055133
15 ABCA4 NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41292677 GRCh37 Chromosome 1, 94467548: 94467548
16 ABCA4 NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41292677 GRCh38 Chromosome 1, 94001992: 94001992
17 ABCA4 NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys) single nucleotide variant Pathogenic rs61750061 GRCh37 Chromosome 1, 94508976: 94508976
18 ABCA4 NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys) single nucleotide variant Pathogenic rs61750061 GRCh38 Chromosome 1, 94043420: 94043420
19 ABCA4 NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs) insertion Pathogenic rs61750064 GRCh37 Chromosome 1, 94508434: 94508435
20 ABCA4 NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs) insertion Pathogenic rs61750064 GRCh38 Chromosome 1, 94042878: 94042879
21 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
22 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
23 ABCA4 NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28938473 GRCh37 Chromosome 1, 94473287: 94473287
24 ABCA4 NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28938473 GRCh38 Chromosome 1, 94007731: 94007731
25 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
26 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
27 ABCA4 NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp) single nucleotide variant Pathogenic rs61748548 GRCh37 Chromosome 1, 94546115: 94546115
28 ABCA4 NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp) single nucleotide variant Pathogenic rs61748548 GRCh38 Chromosome 1, 94080559: 94080559
29 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
30 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh38 Chromosome 1, 94098928: 94098928
31 ABCA4 NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909205 GRCh37 Chromosome 1, 94586550: 94586550
32 ABCA4 NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909205 GRCh38 Chromosome 1, 94120994: 94120994
33 ABCA4 NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61748559 GRCh37 Chromosome 1, 94528713: 94528713
34 ABCA4 NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61748559 GRCh38 Chromosome 1, 94063157: 94063157
35 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh37 Chromosome 1, 94528806: 94528806
36 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh38 Chromosome 1, 94063250: 94063250
37 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh37 Chromosome 1, 94505604: 94505604
38 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh38 Chromosome 1, 94040048: 94040048
39 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
40 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh38 Chromosome 1, 94031110: 94031110
41 ABCA4 NM_000350.2(ABCA4): c.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh37 Chromosome 1, 94544892: 94544892
42 ABCA4 NM_000350.2(ABCA4): c.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh38 Chromosome 1, 94079336: 94079336
43 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
44 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
45 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh37 Chromosome 1, 94481322: 94481322
46 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh38 Chromosome 1, 94015766: 94015766
47 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
48 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh38 Chromosome 1, 94008767: 94008767
49 ABCA4 NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala) single nucleotide variant Pathogenic rs121909207 GRCh37 Chromosome 1, 94480221: 94480221
50 ABCA4 NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala) single nucleotide variant Pathogenic rs121909207 GRCh38 Chromosome 1, 94014665: 94014665

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 photoreceptor inner segment GO:0001917 9.26 GNAT2 RHO
2 photoreceptor disc membrane GO:0097381 9.16 ABCA4 RHO
3 photoreceptor outer segment membrane GO:0042622 9.13 GNAT2 RHO ROM1
4 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
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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