STGD1
MCID: STR084
MIFTS: 52

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 57 75 29 6 73
Fundus Flavimaculatus 57 75 13 55
Retinal Dystrophy, Early-Onset Severe 57 29 6
Stgd1 57 75 55
Macular Dystrophy with Flecks, Type 1 57
Macular Dystrophy with Flecks Type 1 75
Macular Degeneration, Juvenile 57
Macular Degeneration Juvenile 76
Juvenile Macular Degeneration 75
Stargardt's Disease 75
Stargardts Disease 55
Stgd 57
Ffm 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
stargardt disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248200
MeSH 44 D003317
UMLS 73 C1855465

Summaries for Stargardt Disease 1

UniProtKB/Swiss-Prot : 75 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 macular degeneration and retinitis pigmentosa inversa

Wikipedia : 76 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 70)
# Related Disease Score Top Affiliating Genes
1 stargardt macular degeneration 31.7 ABCA4 ELOVL4 RHO
2 stargardt disease 31.6 ABCA4 CNGB3 ELOVL4 GNAT2 MFSD8 RHO
3 macular degeneration, age-related, 1 29.9 ABCA4 ELOVL4 RHO
4 macular dystrophy, concentric annular 29.8 ABCA4 CRX
5 congenital stationary night blindness 29.7 ABCA4 CNGB3 RHO
6 cone-rod dystrophy 2 29.7 ABCA4 CRX GNAT2 RHO
7 retinal degeneration 29.6 ABCA4 CRX RHO ROM1
8 leber congenital amaurosis 29.1 ABCA4 CNGB3 CRX ELOVL4 RHO
9 retinitis pigmentosa 28.9 ABCA4 CRX ELOVL4 MFSD8 RHO ROM1
10 fundus dystrophy 28.9 ABCA4 CNGB3 CRX GNAT2 RHO ROM1
11 multifocal pattern dystrophy simulating fundus flavimaculatus 12.5
12 stargardt disease 3 12.4
13 juvenile macular degeneration and hypotrichosis 12.4
14 leber congenital amaurosis 14 11.6
15 severe early-childhood-onset retinal dystrophy 11.4
16 hypotrichosis, congenital, with juvenile macular dystrophy 11.3
17 stargardt disease 4 11.1
18 oguchi disease 11.0
19 vitreoretinopathy, neovascular inflammatory 10.1
20 lymphoma 10.1
21 myopia 10.1
22 refractive error 10.1
23 degos 'en cocarde' erythrokeratoderma 10.1
24 cone-rod dystrophy 7 10.1 ABCA4 ELOVL4
25 retinitis pigmentosa 19 10.1 ABCA4 RHO
26 color blindness 10.1 CNGB3 GNAT2
27 choroid disease 10.1 CNGB3 RHO
28 achromatopsia 10.1 CNGB3 GNAT2
29 graft-versus-host disease 10.0
30 pelvic inflammatory disease 10.0
31 personality disorder 10.0
32 acute graft versus host disease 10.0
33 colorblindness, partial, protan series 10.0 CNGB3 RHO
34 oligocone trichromacy 10.0 CNGB3 GNAT2
35 achromatopsia 4 10.0 CNGB3 GNAT2
36 jalili syndrome 10.0 CNGB3 GNAT2
37 tritanopia 10.0 CNGB3 RHO
38 blue cone monochromacy 10.0 CNGB3 RHO
39 choroideremia 10.0
40 leber congenital amaurosis 4 10.0
41 retinitis 10.0
42 yemenite deaf-blind hypopigmentation syndrome 10.0 ABCA4 RHO
43 retinitis pigmentosa 7 10.0 RHO ROM1
44 cone-rod dystrophy 6 10.0 CNGB3 GNAT2
45 red-green color blindness 10.0 ABCA4 CNGB3 RHO
46 degeneration of macula and posterior pole 9.9 ABCA4 ELOVL4 RHO
47 cone dystrophy 9.9 CNGB3 RHO
48 sotos syndrome 1 9.9
49 3-methylglutaconic aciduria, type iii 9.9
50 bardet-biedl syndrome 2 9.9

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:

57
H E E N T:
macular degeneration
central retinitis pigmentosa

Misc:
onset in first 2 decades


Clinical features from OMIM:

248200

Human phenotypes related to Stargardt Disease 1:

32
# Description HPO Frequency HPO Source Accession
1 macular degeneration 32 HP:0000608
2 retinitis pigmentosa inversa 32 HP:0008035
3 bull's eye maculopathy 32 very rare (1%) HP:0011504

MGI Mouse Phenotypes related to Stargardt Disease 1:

46
# 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved Phase 2 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
3 Immunologic Factors Phase 2
4 Complement C5 Phase 2
5 Complement System Proteins Phase 2
6
Retinol acetate Phase 2 127-47-9 10245972
7 retinol Phase 2
8 Retinol palmitate Phase 2
9 Vitamins Phase 2
10 Omega 3 Fatty Acid Not Applicable
11 Sunflower Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Recruiting NCT03364153 Phase 2 Zimura
2 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
3 Stem Cells Therapy in Degenerative Diseases of the Retina Enrolling by invitation NCT03772938 Phase 1
4 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Completed NCT02410122
5 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Not yet recruiting NCT03297515 Not Applicable

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 CNGB3
2 Retinal Dystrophy, Early-Onset Severe 29

Anatomical Context for Stargardt Disease 1

MalaCards organs/tissues related to Stargardt Disease 1:

41
Eye, Retina, Testes

Publications for Stargardt Disease 1

Articles related to Stargardt Disease 1:

(show top 50) (show all 63)
# Title Authors Year
1
Hyperreflective foci in Stargardt disease: 1-year follow-up. ( 30374616 )
2018
2
Multimodality imaging in the study of fundus flavimaculatus. ( 29496231 )
2018
3
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus. ( 27380982 )
2016
4
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. ( 17297718 )
2006
5
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537. ( 17297692 )
2006
6
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. ( 17297691 )
2006
7
Gene symbol: ABCA4. Disease: Stargardt disease 1. ( 17128450 )
2006
8
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538. ( 17297693 )
2006
9
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. ( 15234282 )
2004
10
Photodynamic therapy for choroidal neovascularization in fundus flavimaculatus. ( 11884891 )
2002
11
Altered recovery of macular function after bleaching in Stargardt's disease-fundus flavimaculatus: pattern VEP evidence. ( 12147611 )
2002
12
Indocyanine green angiography in Fundus flavimaculatus. ( 10859505 )
2000
13
Focal retinal pigment epithelial dysplasia associated with fundus flavimaculatus. ( 10458294 )
1999
14
Long-term follow-up of Stargardt's disease and fundus flavimaculatus. ( 9499775 )
1998
15
Electrophysiological findings in Stargardt's-fundus flavimaculatus disease. ( 10325994 )
1998
16
In vivo measurement of lipofuscin in Stargardt's disease--Fundus flavimaculatus. ( 7558729 )
1995
17
Asymmetric fundus flavimaculatus/Stargardt's disease, associated with unilateral myopia. ( 8737707 )
1995
18
Progressive subretinal fibrosis in fundus flavimaculatus. ( 8079636 )
1994
19
Stargardt's disease/fundus flavimaculatus: psychophysical and electrophysiologic results. ( 8224929 )
1993
20
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. ( 8240110 )
1993
21
Posttraumatic reaction in a case of fundus flavimaculatus with atrophic macular degeneration. ( 8338316 )
1993
22
Proliferative vitreoretinopathy in fundus flavimaculatus. ( 1598966 )
1992
23
Fundus flavimaculatus with severely reduced cone electroretinogram. ( 1464966 )
1992
24
Fundus flavimaculatus and subretinal neovascularization. ( 1521820 )
1992
25
Histopathology of incipient fundus flavimaculatus. ( 1866150 )
1991
26
Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation. ( 2374685 )
1990
27
The electroretinogram in Stargardt's disease and fundus flavimaculatus. ( 2637122 )
1989
28
Non-Hodgkin's lymphoma causing fundus picture simulating fundus flavimaculatus. ( 3324241 )
1987
29
Functional and morphological variations of fundus flavimaculatus. ( 3454315 )
1987
30
Associated retinitis pigmentosa and fundus flavimaculatus. ( 3614843 )
1987
31
Rod-cone interaction in patients with fundus flavimaculatus. ( 3676146 )
1987
32
Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. ( 3590477 )
1986
33
Fundus flavimaculatus without maculopathy. A clinicopathologic study. ( 3951808 )
1986
34
Fundus flavimaculatus: polymorphic retinal change in siblings. ( 4016047 )
1985
35
Treatment of low vision in fundus flavimaculatus. ( 4038124 )
1985
36
Electrophysiological analysis of Stargardt's disease fundus flavimaculatus group. ( 4042820 )
1985
37
A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up. ( 4086170 )
1985
38
Retinal function in Stargardt's disease and fundus flavimaculatus. ( 6869480 )
1983
39
Fundus flavimaculatus and subretinal neovascularization. ( 6179449 )
1982
40
Dystrophia retinae pigmentosa, fundus flavimaculatus and Stargardt's disease in one family. ( 7054737 )
1982
41
Refractive errors in patients with fundus flavimaculatus. ( 7066275 )
1982
42
Vitreous fluorophotometry in patients with fundus flavimaculatus. ( 7092649 )
1982
43
Stargardt's disease and fundus flavimaculatus. ( 7153442 )
1982
44
Fundus flavimaculatus with cystoid macular changes and abnormal Stiles-Crawford effect. ( 7468733 )
1981
45
Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study. ( 6165950 )
1980
46
Fundus fluorescein angiography in fundus flavimaculatus and Stargardts disease. ( 452881 )
1979
47
Stargardt's disease and fundus flavimaculatus. ( 454263 )
1979
48
Electro-oculogram testing in fundus flavimaculatus. ( 485913 )
1979
49
Fluorescence in Best's vitelliform dystrophy, lipofuscin, and fundus flavimaculatus. ( 646985 )
1978
50
Subretinal neovascularization associated with fundus flavimaculatus. ( 718494 )
1978

Variations for Stargardt Disease 1

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

75 (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 498)
# 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.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh37 Chromosome 1, 94517254: 94517254
6 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh38 Chromosome 1, 94051698: 94051698
7 ABCA4 NM_000350.2(ABCA4): c.2791G> A (p.Val931Met) single nucleotide variant Conflicting interpretations of pathogenicity rs58331765 GRCh37 Chromosome 1, 94512602: 94512602
8 ABCA4 NM_000350.2(ABCA4): c.2791G> A (p.Val931Met) single nucleotide variant Conflicting interpretations of pathogenicity rs58331765 GRCh38 Chromosome 1, 94047046: 94047046
9 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh37 Chromosome 1, 94508999: 94508999
10 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh38 Chromosome 1, 94043443: 94043443
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 rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
30 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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