STGD1
MCID: STR084
MIFTS: 47

Stargardt Disease 1 (STGD1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Stargardt Disease 1

MalaCards integrated aliases for Stargardt Disease 1:

Name: Stargardt Disease 1 56 73 29 6 71
Fundus Flavimaculatus 56 73 13 54
Retinal Dystrophy, Early-Onset Severe 56 29 6
Stgd1 56 73 54
Macular Dystrophy with Flecks, Type 1 56
Macular Dystrophy with Flecks Type 1 73
Macular Degeneration, Juvenile 56
Macular Degeneration Juvenile 74
Juvenile Macular Degeneration 73
Stargardt Disease, Type 1 39
Stargardt's Disease 73
Stgd 56
Ffm 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
stargardt disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 248200
MeSH 43 D003317
UMLS 71 C1855465

Summaries for Stargardt Disease 1

UniProtKB/Swiss-Prot : 73 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 severe early-childhood-onset retinal dystrophy and stargardt disease. An important gene associated with Stargardt Disease 1 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). The drugs Pharmaceutical Solutions and Complement System Proteins have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotypes are bull's eye maculopathy and macular degeneration

Wikipedia : 74 Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

More information 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 100)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 32.1 CNGB3 ABCA4
2 stargardt disease 31.1 ROM1 MFSD8 CNGB3 ABCA4
3 scotoma 30.4 CNGB3 ABCA4
4 retinitis 30.1 ROM1 ABCA4
5 fundus albipunctatus 30.0 ROM1 ABCA4
6 choroideremia 30.0 CNGB3 ABCA4
7 cone dystrophy 29.9 CNGB3 ABCA4
8 vitelliform macular dystrophy 29.7 ROM1 ABCA4
9 retinoschisis 1, x-linked, juvenile 29.6 CNGB3 ABCA4
10 pathologic nystagmus 29.5 CNGB3 ABCA4
11 retinal disease 29.5 ROM1 CNGB3 ABCA4
12 cone-rod dystrophy 2 29.4 ROM1 CNGB3 ABCA4
13 eye disease 29.3 ROM1 CNGB3 ABCA4
14 inherited retinal disorder 28.9 MFSD8 CNGB3 ABCA4
15 fundus dystrophy 28.7 ROM1 MFSD8 CNGB3 ABCA4
16 retinitis pigmentosa 28.5 ROM1 MFSD8 CNGB3 ABCA4
17 multifocal pattern dystrophy simulating fundus flavimaculatus 12.6
18 leber congenital amaurosis 14 11.8
19 hypotrichosis, congenital, with juvenile macular dystrophy 11.6
20 stargardt macular degeneration 11.4
21 stargardt disease 4 11.3
22 personality disorder 10.6
23 avoidant personality disorder 10.6
24 pattern dystrophy 10.5
25 graft-versus-host disease 10.4
26 acute graft versus host disease 10.4
27 fibrosis of extraocular muscles, congenital, 1 10.3
28 autosomal recessive disease 10.3
29 human immunodeficiency virus type 1 10.2
30 hair whorl 10.2
31 macular dystrophy, patterned, 1 10.2
32 retinal detachment 10.2
33 retinoblastoma 10.2
34 tritanopia 10.2
35 vitreoretinopathy, neovascular inflammatory 10.2
36 retinitis pigmentosa 7 10.2
37 joint laxity, short stature, and myopia 10.2
38 lymphoma 10.2
39 myopia 10.2
40 familial retinoblastoma 10.2
41 hereditary retinal dystrophy 10.2
42 refractive error 10.2
43 butterfly-shaped pigment dystrophy 10.2
44 vitreoretinopathy 10.2
45 macular degeneration, age-related, 1 10.2
46 neuroretinitis 10.2
47 leukemia, acute myeloid 10.1
48 major depressive disorder 10.1
49 protein-losing enteropathy 10.1
50 borderline personality disorder 10.1

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:

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

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 ABCA4 CNGB3 MFSD8 ROM1
2 vision/eye MP:0005391 8.92 ABCA4 CNGB3 MFSD8 ROM1

Drugs & Therapeutics for Stargardt Disease 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 Complement System Proteins Phase 2
3 Omega 3 Fatty Acid Phase 1

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
2 A Phase 3 Multicenter, Randomized, Double-Masked Study Comparing the Efficacy and Safety of Emixustat Hydrochloride With Placebo for the Treatment of Macular Atrophy Secondary to Stargardt Disease Active, not recruiting NCT03772665 Phase 3 Emixustat;Placebo
3 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
4 Stem Cell Derived Retinal Pigmented Epithelium Implantation in Patients With Outer Retinal Degenerations: Phase I/II Clinical Trial Unknown status NCT02903576 Phase 1, Phase 2
5 A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01345006 Phase 1, Phase 2
6 A Phase I/II, Open-Label, Multi-Center, Prospective 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) Completed NCT01469832 Phase 1, Phase 2
7 A Phase 2b Randomized, Double-masked, Controlled Trial to Establish the Safety and Efficacy of Zimura™ (Complement C5 Inhibitor) Compared to Sham in Subjects With Autosomal Recessive Stargardt Disease Active, not recruiting NCT03364153 Phase 2 Zimura
8 An Open Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular Degeneration Active, not recruiting NCT01736592 Phase 1, Phase 2 Long term follow up in all patients who received SAR422459 in previous study TDU13583
9 A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR422459, Administered to Patients With Stargardt's Macular Degeneration Terminated NCT01367444 Phase 1, Phase 2 SAR422459
10 Investigation of the Effect of Dietary Docosahexaenoic Acid (DHA) Supplementation on Macular Function in Subjects With Autosomal Dominant Stargardt-Like and Autosomal Recessive Stargardt Macular Dystrophy Completed NCT00060749 Phase 1 Docosahexaenoic Acid (DHA) Dietary Supplement
11 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a PROM1- Related Macular Dystrophy Completed NCT02410122
12 Clinical Interventions Against Stargardt Macular Dystrophy: DHA Supplementation in Patients With STGD3 Completed NCT00420602
13 Long Term Follow Up to a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02445612
14 Follow-up to 5 Years of a Phase I/II, Open-Label, Multi-Center, Prospective 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) Completed NCT02941991
15 An Observational, Multi-Center Phase 1 Study of the Safety and Effectiveness of Frequency Specific Microcurrent Stimulation as an Alternative Treatment for Retinal Diseases Completed NCT01790958
16 X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies Recruiting NCT00055029
17 Improving Vision in Adults With Macular Degeneration, Study 1: the Effect of Brain Stimulation Recruiting NCT04111068
18 High Resolution Retinal Imaging in Patients With Inherited Retinal Degenerations Recruiting NCT00254605
19 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966

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 29 ABCA4
2 Retinal Dystrophy, Early-Onset Severe 29

Anatomical Context for Stargardt Disease 1

MalaCards organs/tissues related to Stargardt Disease 1:

40
Eye, Retina, Brain, Cortex

Publications for Stargardt Disease 1

Articles related to Stargardt Disease 1:

(show top 50) (show all 205)
# Title Authors PMID Year
1
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. 6 56 54
10396622 1999
2
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 54 6 56
9054934 1997
3
Case of Stargardt disease caused by uniparental isodisomy. 6 56
16682602 2006
4
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 6 56
15712225 2005
5
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. 6 56
10874631 1999
6
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. 56 61 54
11818392 2002
7
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 61 54 6
10958761 2000
8
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 6 61 54
9973280 1999
9
Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy. 61 56
26247787 2015
10
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 54 6
11385708 2001
11
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
12
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. 56
25837607 2015
13
Early-onset stargardt disease: phenotypic and genotypic characteristics. 56
25444351 2015
14
Clinical and molecular characteristics of childhood-onset Stargardt disease. 56
25312043 2015
15
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. 56
25283059 2015
16
Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease. 56
21296825 2011
17
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 6
18285826 2008
18
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. 6
17265047 2007
19
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. 6
16546111 2006
20
Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. 6
16400609 2006
21
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 6
16103129 2005
22
Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. 6
15516930 2004
23
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. 6
15192030 2004
24
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. 56
14709597 2004
25
Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. 56
12799240 2003
26
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 6
12796258 2003
27
Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. 56
12671074 2003
28
Therapy for macular degeneration: insights from acne. 56
12682280 2003
29
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 6
11919200 2002
30
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. 6
11973624 2002
31
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 56
11527935 2001
32
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? 56
11384574 2001
33
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 6
10958763 2000
34
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. 6
10958649 2000
35
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. 6
10880298 2000
36
Genetic basis of total colourblindness among the Pingelapese islanders. 6
10888875 2000
37
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 6
10746567 2000
38
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. 6
10090887 1999
39
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 56
9781034 1998
40
Long-term follow-up of Stargardt's disease and fundus flavimaculatus. 56
9499775 1998
41
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 6
9503029 1998
42
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 6
9490294 1998
43
Widening the view. 56
9054926 1997
44
Genetic fine mapping of the gene for recessive Stargardt disease. 56
8792830 1996
45
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. 56
8533764 1995
46
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. 56
7847373 1995
47
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. 56
8035984 1994
48
Stargardt's macular dystrophy. 56
8002831 1994
49
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. 56
8275096 1993
50
A second-generation linkage map of the human genome. 56
1436057 1992

Variations for Stargardt Disease 1

ClinVar genetic disease variations for Stargardt Disease 1:

6 (show top 50) (show all 386) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA4 NM_000350.3(ABCA4):c.1615_1616CT[3] (p.Leu541fs)short repeat Pathogenic 433181 rs1553192715 1:94528806-94528807 1:94063250-94063251
2 ABCA4 NM_000350.3(ABCA4):c.5196+1137G>ASNV Pathogenic 438100 rs778234759 1:94484001-94484001 1:94018445-94018445
3 ABCA4 NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)SNV Pathogenic 438092 rs1553190664 1:94509001-94509001 1:94043445-94043445
4 ABCA4 NM_000350.3(ABCA4):c.287del (p.Asn96fs)deletion Pathogenic 545516 rs1553196583 1:94577009-94577009 1:94111453-94111453
5 ABCA4 NM_000350.3(ABCA4):c.4539+2001G>ASNV Pathogenic 560421 rs1457937638 1:94493000-94493000 1:94027444-94027444
6 ABCA4 NM_000350.3(ABCA4):c.2587+2T>CSNV Pathogenic 590903 rs1557783989 1:94520665-94520665 1:94055109-94055109
7 ABCA4 NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)deletion Pathogenic 801503 1:94466400-94466400 1:94000844-94000844
8 ABCA4 NM_000350.3(ABCA4):c.6221del (p.Gly2074fs)deletion Pathogenic 801504 1:94467475-94467475 1:94001919-94001919
9 ABCA4 NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)deletion Pathogenic 801507 1:94486798-94486802 1:94021242-94021246
10 ABCA4 NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del)deletion Pathogenic 801508 1:94487436-94487441 1:94021880-94021885
11 ABCA4 NM_000350.3(ABCA4):c.4108del (p.His1370fs)deletion Pathogenic 801509 1:94497354-94497354 1:94031798-94031798
12 ABCA4 NM_000350.3(ABCA4):c.4034_4035AC[1] (p.Thr1346fs)short repeat Pathogenic 801510 1:94497425-94497426 1:94031869-94031870
13 ABCA4 NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)deletion Pathogenic 801511 1:94497458-94497459 1:94031902-94031903
14 ABCA4 NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)SNV Pathogenic 801512 1:94502785-94502785 1:94037229-94037229
15 ABCA4 NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)deletion Pathogenic 829880 1:94568650-94568653 1:94103094-94103097
16 ABCA4 NM_000350.3(ABCA4):c.2161-1G>ASNV Pathogenic 801517 1:94522379-94522379 1:94056823-94056823
17 ABCA4 NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)SNV Pathogenic 801518 1:94528224-94528224 1:94062668-94062668
18 ABCA4 NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)SNV Pathogenic 801520 1:94586566-94586566 1:94121010-94121010
19 CNGB3 NM_019098.4(CNGB3):c.1781+1G>TSNV Pathogenic 810781 8:87616320-87616320 8:86604092-86604092
20 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)SNV Pathogenic 7882 rs61751408 1:94471065-94471065 1:94005509-94005509
21 ABCA4 NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)SNV Pathogenic 7883 rs61749438 1:94520689-94520689 1:94055133-94055133
22 ABCA4 NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)SNV Pathogenic 7886 rs61750061 1:94508976-94508976 1:94043420-94043420
23 ABCA4 NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)insertion Pathogenic 7887 rs61750064 1:94508434-94508435 1:94042878-94042879
24 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)SNV Pathogenic 7904 rs61750130 1:94496666-94496666 1:94031110-94031110
25 ABCA4 NM_000350.3(ABCA4):c.2888del (p.Gly963fs)deletion Pathogenic 7905 rs61752410 1:94512505-94512505 1:94046949-94046949
26 ABCA4 NM_000350.3(ABCA4):c.1225del (p.Arg409fs)deletion Pathogenic 7906 rs387906387 1:94544892-94544892 1:94079336-94079336
27 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500
28 ABCA4 NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)SNV Pathogenic 7909 rs121909206 1:94481322-94481322 1:94015766-94015766
29 ABCA4 NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)SNV Pathogenic 7911 rs61753033 1:94474323-94474323 1:94008767-94008767
30 ABCA4 NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)SNV Pathogenic 7896 rs61748548 1:94546115-94546115 1:94080559-94080559
31 ABCA4 NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)SNV Pathogenic 30217 rs61749433 1:94520793-94520793 1:94055237-94055237
32 ABCA4 NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)SNV Pathogenic 30218 rs61751399 1:94506923-94506923 1:94041367-94041367
33 ABCA4 NM_000350.3(ABCA4):c.67-2A>GSNV Pathogenic 92871 rs398123339 1:94578624-94578624 1:94113068-94113068
34 ABCA4 NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)SNV Pathogenic 99035 rs61748550 1:94544895-94544895 1:94079339-94079339
35 ABCA4 NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)SNV Pathogenic 99036 rs61751410 1:94578567-94578567 1:94113011-94113011
36 ABCA4 NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)SNV Pathogenic 99066 rs150774447 1:94577135-94577135 1:94111579-94111579
37 ABCA4 NM_000350.3(ABCA4):c.1760+2T>GSNV Pathogenic 99076 rs61751385 1:94528666-94528666 1:94063110-94063110
38 ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)SNV Pathogenic 99084 rs61749409 1:94528266-94528266 1:94062710-94062710
39 ABCA4 NM_000350.3(ABCA4):c.1937+1G>ASNV Pathogenic 99104 rs61752401 1:94528132-94528132 1:94062576-94062576
40 ABCA4 NM_000350.3(ABCA4):c.1938-1G>ASNV Pathogenic 99106 rs61751263 1:94526316-94526316 1:94060760-94060760
41 ABCA4 NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)SNV Pathogenic 99096 rs61749414 1:94528167-94528167 1:94062611-94062611
42 ABCA4 NM_000350.3(ABCA4):c.1A>G (p.Met1Val)SNV Pathogenic 99110 rs201738997 1:94586601-94586601 1:94121045-94121045
43 ABCA4 NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)SNV Pathogenic 99114 rs61749423 1:94526212-94526212 1:94060656-94060656
44 ABCA4 NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)SNV Pathogenic 99144 rs61752406 1:94520690-94520690 1:94055134-94055134
45 ABCA4 NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)SNV Pathogenic 99166 rs61748529 1:94577010-94577010 1:94111454-94111454
46 ABCA4 NM_000350.3(ABCA4):c.296dup (p.Asn99fs)duplication Pathogenic 99181 rs62645948 1:94576999-94577000 1:94111443-94111444
47 ABCA4 NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)SNV Pathogenic 99197 rs61751397 1:94508997-94508997 1:94043441-94043441
48 ABCA4 NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)SNV Pathogenic 99240 rs61752425 1:94502706-94502706 1:94037150-94037150
49 ABCA4 NM_000350.3(ABCA4):c.3862+1G>ASNV Pathogenic 99243 rs61751400 1:94502295-94502295 1:94036739-94036739
50 ABCA4 NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)SNV Pathogenic 99263 rs61750137 1:94496571-94496571 1:94031015-94031015

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

73 (show top 50) (show all 189)
# 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.Asp523Glu VAR_008414 rs62646868
17 ABCA4 p.Leu541Pro VAR_008415 rs61751392
18 ABCA4 p.Arg572Pro VAR_008416 rs61748559
19 ABCA4 p.Arg572Gln VAR_008417 rs61748559
20 ABCA4 p.Arg602Trp VAR_008418 rs61749409
21 ABCA4 p.Phe608Ile VAR_008419 rs61752398
22 ABCA4 p.Asp645Asn VAR_008421 rs61749418
23 ABCA4 p.Gly818Glu VAR_008422 rs61750202
24 ABCA4 p.Trp821Arg VAR_008423 rs61749433
25 ABCA4 p.Gly851Asp VAR_008424 rs61749436
26 ABCA4 p.Gly863Ala VAR_008425 rs76157638
27 ABCA4 p.Val931Met VAR_008427 rs58331765
28 ABCA4 p.Gln957Arg VAR_008429 rs61749448
29 ABCA4 p.Asn965Ser VAR_008430 rs201471607
30 ABCA4 p.Gly978Cys VAR_008431 rs61749452
31 ABCA4 p.Glu1036Lys VAR_008432 rs61750061
32 ABCA4 p.Ala1038Val VAR_008433 rs61751374
33 ABCA4 p.Ser1071Leu VAR_008434 rs61750065
34 ABCA4 p.Val1072Ala VAR_008435
35 ABCA4 p.Glu1087Lys VAR_008436 rs61751398
36 ABCA4 p.Thr1112Asn VAR_008437 rs61750122
37 ABCA4 p.Glu1122Lys VAR_008438 rs61751399
38 ABCA4 p.Arg1129Leu VAR_008439 rs1801269
39 ABCA4 p.Leu1201Arg VAR_008440 rs61750126
40 ABCA4 p.Asp1204Asn VAR_008441 rs61750127
41 ABCA4 p.Pro1380Leu VAR_008443 rs61750130
42 ABCA4 p.His1406Tyr VAR_008444 rs61750133
43 ABCA4 p.Trp1408Leu VAR_008445 rs61750134
44 ABCA4 p.Trp1408Arg VAR_008446 rs61750135
45 ABCA4 p.Val1429Ala VAR_008448 rs61752432
46 ABCA4 p.Val1433Ile VAR_008449 rs56357060
47 ABCA4 p.Gly1439Asp VAR_008450 rs61750140
48 ABCA4 p.Phe1440Ser VAR_008451 rs61750141
49 ABCA4 p.Pro1486Leu VAR_008452 rs61750145
50 ABCA4 p.Cys1488Arg VAR_008453 rs61750146

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 outer segment GO:0001750 8.8 ROM1 CNGB3 ABCA4

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.13 ROM1 CNGB3 ABCA4
2 visual perception GO:0007601 8.8 ROM1 CNGB3 ABCA4

Sources for Stargardt Disease 1

3 CDC
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10 dbSNP
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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