STGD1
MCID: STR084
MIFTS: 53

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 57 73 29 6 71
Fundus Flavimaculatus 57 73 13 54
Retinal Dystrophy, Early-Onset Severe 57 29 6
Stgd1 57 73 54
Stargardt's Disease 73 6
Early Onset and Severe Retinal Dystrophy 6
Macular Dystrophy with Flecks, Type 1 57
Macular Dystrophy with Flecks Type 1 73
Macular Degeneration, Juvenile 57
Macular Degeneration Juvenile 74
Juvenile Macular Degeneration 73
Stargardt Disease, Type 1 39
Stgd 57
Ffm 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
stargardt disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 248200
MeSH 44 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 stargardt macular degeneration and butterfly-shaped pigment dystrophy. An important gene associated with Stargardt Disease 1 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). The drugs acetic acid and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and cortex, 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 164)
# Related Disease Score Top Affiliating Genes
1 stargardt macular degeneration 32.3 PRPH2 ABCA4
2 butterfly-shaped pigment dystrophy 30.3 ROM1 PRPH2
3 yemenite deaf-blind hypopigmentation syndrome 30.3 RHO ABCA4
4 chorioretinitis 30.2 CRB1 ABCA4
5 retinal detachment 30.2 RHO COL2A1 COL18A1
6 macular retinal edema 30.1 RHO CRB1 BEST1
7 retinitis pigmentosa 7 29.9 TULP1 ROM1 PRPH2
8 choroideremia 29.9 RHO PRPH2 CNGB3 BEST1 ABCA4
9 myopia 29.8 RHO PRPH2 COL2A1 COL18A1
10 cone-rod dystrophy 3 29.8 CRX ABCA4
11 scotoma 29.8 RHO KCNV2 EYS CRB1 CNGB3 ABCA4
12 pattern dystrophy 29.5 ROM1 RHO PRPH2 CRX
13 night blindness 29.3 RHO PRPH2 KCNV2 FLVCR1 CRB1 ABCA4
14 hereditary retinal dystrophy 29.0 RHO PRPH2 EYS CRX CRB1 BEST1
15 eye disease 28.7 ROM1 RHO CRX CRB1 COL2A1 CNGB3
16 pathologic nystagmus 28.7 TULP1 RHO KCNV2 CRX CRB1 COL18A1
17 retinitis 28.6 ROM1 RHO PRPH2 FLVCR1 EYS CRB1
18 stargardt disease 28.4 TULP1 ROM1 RHO PRPH2 PROM1 MFSD8
19 fundus albipunctatus 28.2 TULP1 ROM1 RHO PRPH2 EYS CRX
20 congenital stationary night blindness 28.2 TULP1 ROM1 RHO PRPH2 EYS CRX
21 bardet-biedl syndrome 28.1 TULP1 ROM1 RHO PRPH2 EYS CRX
22 retinal degeneration 28.0 TULP1 ROM1 RHO PRPH2 PROM1 CRX
23 retinal disease 27.6 TULP1 ROM1 RHO PRPH2 EYS CRX
24 cone dystrophy 27.4 TULP1 ROM1 RHO PRPH2 PROM1 KCNV2
25 leber plus disease 27.3 TULP1 ROM1 RHO PRPH2 PROM1 KCNV2
26 macular degeneration, age-related, 1 27.0 ROM1 RHO PRPH2 PROM1 FLVCR1 EYS
27 cone-rod dystrophy 2 25.9 TULP1 ROM1 RHO PRPH2 PROM1 MFSD8
28 retinitis pigmentosa 25.6 TULP1 ROM1 RHO PRPH2 PROM1 MFSD8
29 fundus dystrophy 25.4 TULP1 ROM1 RHO PRPH2 PROM1 MFSD8
30 leber congenital amaurosis 14 11.5
31 hypotrichosis, congenital, with juvenile macular dystrophy 11.5
32 severe early-childhood-onset retinal dystrophy 11.4
33 stargardt disease 4 10.9
34 personality disorder 10.4
35 interval angle-closure glaucoma 10.4 BEST1 ABCA4
36 avoidant personality disorder 10.3
37 macular degeneration, age-related, 6 10.3 BEST1 ABCA4
38 ceroid lipofuscinosis, neuronal, 9 10.3 MFSD8 CLN3
39 visual epilepsy 10.3 MFSD8 CLN3
40 macular degeneration, age-related, 4 10.3 BEST1 ABCA4
41 colorblindness, partial, protan series 10.3 RHO CNGB3
42 basal laminar drusen 10.3 BEST1 ABCA4
43 ceroid lipofuscinosis, neuronal, 11 10.3 MFSD8 CLN3
44 macular dystrophy, vitelliform, 3 10.3 PRPH2 BEST1
45 red-green color blindness 10.3 RHO CNGB3 ABCA4
46 color blindness 10.3 RHO CNGB3 ABCA4
47 ceroid lipofuscinosis, neuronal, 13 10.3 MFSD8 CLN3
48 optic disk drusen 10.3 RHO CRB1
49 microphthalmia, isolated 6 10.3 CRB1 BEST1
50 pigmented paravenous chorioretinal atrophy 10.2 CRB1 ABCA4

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®:

57 (Updated 05-Mar-2021)
H E E N T:
macular degeneration
central retinitis pigmentosa

Misc:
onset in first 2 decades

Clinical features from OMIM®:

248200 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Stargardt Disease 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.5 ALMS1 CRX EYS KCNV2 PRPH2
2 Decreased viability GR00386-A-1 9.5 ALMS1 CRX KCNV2 PRPH2
3 Decreased viability GR00402-S-2 9.5 BEST1 COL18A1 KCNV2 PRPH2 RHO ROM1

MGI Mouse Phenotypes related to Stargardt Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 ABCA4 COL18A1 COL2A1 CRB1 CRX FLVCR1
2 cellular MP:0005384 10.13 ALMS1 BEST1 CLN3 CNGB3 COL18A1 COL2A1
3 nervous system MP:0003631 10.13 ABCA4 ALMS1 CLN3 CNGB3 COL18A1 COL2A1
4 pigmentation MP:0001186 9.9 ABCA4 ALMS1 BEST1 COL18A1 CRB1 CRX
5 vision/eye MP:0005391 9.53 ABCA4 ALMS1 BEST1 CLN3 CNGB3 COL18A1
6 renal/urinary system MP:0005367 9.5 ALMS1 CLN3 COL18A1 COL2A1 CRX FLVCR1

Drugs & Therapeutics for Stargardt Disease 1

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

(show all 16)
# 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 68-26-8, 11103-57-4 445354
3 Complement System Proteins Phase 2
4 Protective Agents Phase 2
5 retinol Phase 2
6 Micronutrients Phase 2
7 Trace Elements Phase 2
8
Retinol acetate Phase 2 127-47-9 10245972
9 Immunologic Factors Phase 2
10 Vitamins Phase 2
11 Retinol palmitate Phase 2
12 Adjuvants, Immunologic Phase 2
13 Nutrients Phase 2
14 Pharmaceutical Solutions Phase 1, Phase 2
15 Omega 3 Fatty Acid
16 Sunflower

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 A Phase 2a Multicenter, Randomized, Masked Study Evaluating the Pharmacodynamics of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
5 A Phase 2a Study of the Safety, Pharmacokinetics and Pharmacodynamics of STG-001 in Subjects With Stargardt Disease (STGD1) Caused by Autosomal Recessive Mutation in ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene Recruiting NCT04489511 Phase 2 STG-001
6 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 Recruiting NCT03364153 Phase 2 Zimura
7 A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
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 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease Enrolling by invitation NCT04239625 Phase 2 ALK-001
10 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
11 A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
12 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
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 Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease Completed NCT01977846
15 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
16 Clinical Interventions Against Stargardt Macular Dystrophy: DHA Supplementation in Patients With STGD3 Completed NCT00420602
17 Prospective, Randomised, Double-blind Study to Assess the Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease (Macular Degeneration Omega-3 Study - MADEOS Completed NCT03297515
18 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
19 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin 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 29 ABCA4
2 Retinal Dystrophy, Early-Onset Severe 29

Anatomical Context for Stargardt Disease 1

MalaCards organs/tissues related to Stargardt Disease 1:

40
Retina, Eye, Cortex

Publications for Stargardt Disease 1

Articles related to Stargardt Disease 1:

(show top 50) (show all 218)
# Title Authors PMID Year
1
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. 54 57 6
10396622 1999
2
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 54 57 6
9054934 1997
3
Case of Stargardt disease caused by uniparental isodisomy. 57 6
16682602 2006
4
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 57
10874631 1999
5
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 57 6
9781034 1998
6
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. 61 57 54
11818392 2002
7
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 6 54 61
10958761 2000
8
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 61 54 6
9973280 1999
9
Modification of the PROM1 disease phenotype by a mutation in ABCA4. 57 61
31576780 2019
10
Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy. 61 57
26247787 2015
11
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 6 54
11385708 2001
12
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
13
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. 57
25837607 2015
14
Early-onset stargardt disease: phenotypic and genotypic characteristics. 57
25444351 2015
15
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. 57
25283059 2015
16
Clinical and molecular characteristics of childhood-onset Stargardt disease. 57
25312043 2015
17
Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease. 57
21296825 2011
18
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 6
18285826 2008
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
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 57
15712225 2005
23
Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. 6
15516930 2004
24
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. 6
15192030 2004
25
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. 57
14709597 2004
26
Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. 57
12799240 2003
27
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 6
12796258 2003
28
Therapy for macular degeneration: insights from acne. 57
12682280 2003
29
Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. 57
12671074 2003
30
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 6
11919200 2002
31
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. 6
11973624 2002
32
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 57
11527935 2001
33
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? 57
11384574 2001
34
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 6
10958763 2000
35
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. 6
10880298 2000
36
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 6
10746567 2000
37
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
38
Long-term follow-up of Stargardt's disease and fundus flavimaculatus. 57
9499775 1998
39
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
40
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 6
9490294 1998
41
Widening the view. 57
9054926 1997
42
Genetic fine mapping of the gene for recessive Stargardt disease. 57
8792830 1996
43
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. 57
8533764 1995
44
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. 57
7847373 1995
45
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. 57
8035984 1994
46
Stargardt's macular dystrophy. 57
8002831 1994
47
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. 57
8275096 1993
48
A second-generation linkage map of the human genome. 57
1436057 1992
49
Fundus flavimaculatus: polymorphic retinal change in siblings. 57
4016047 1985
50
Fundus flavimaculatus and Stargardt's disease. 57
1086060 1976

Variations for Stargardt Disease 1

ClinVar genetic disease variations for Stargardt Disease 1:

6 (show top 50) (show all 580)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA4 NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) SNV Pathogenic 7881 rs121909204 1:94508999-94508999 1:94043443-94043443
2 ABCA4 NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter) SNV Pathogenic 7883 rs61749438 1:94520689-94520689 1:94055133-94055133
3 ABCA4 NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) SNV Pathogenic 7886 rs61750061 1:94508976-94508976 1:94043420-94043420
4 ABCA4 NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp) SNV Pathogenic 7896 rs61748548 1:94546115-94546115 1:94080559-94080559
5 ABCA4 NM_000350.3(ABCA4):c.571-2A>G SNV Pathogenic 99402 rs61748534 1:94564549-94564549 1:94098993-94098993
6 ABCA4 NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg) SNV Pathogenic 30217 rs61749433 1:94520793-94520793 1:94055237-94055237
7 ABCA4 NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) SNV Pathogenic 99066 rs150774447 1:94577135-94577135 1:94111579-94111579
8 ABCA4 NM_000350.3(ABCA4):c.1760+2T>G SNV Pathogenic 99076 rs61751385 1:94528666-94528666 1:94063110-94063110
9 ABCA4 NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile) SNV Pathogenic 143074 rs527236129 1:94512595-94512595 1:94047039-94047039
10 ABCA4 NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter) SNV Pathogenic 236094 rs61749441 1:94514475-94514475 1:94048919-94048919
11 ABCA4 NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) SNV Pathogenic 236114 rs886044742 1:94495186-94495186 1:94029630-94029630
12 ABCA4 NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) SNV Pathogenic 99473 rs61753045 1:94463537-94463537 1:93997981-93997981
13 ABCA4 NM_000350.3(ABCA4):c.4640del (p.Lys1547fs) Deletion Pathogenic 236120 rs886044745 1:94488969-94488969 1:94023413-94023413
14 ABCA4 NM_000350.3(ABCA4):c.4254-1G>C SNV Pathogenic 236111 rs886044740 1:94496083-94496083 1:94030527-94030527
15 ABCA4 NM_000350.3(ABCA4):c.160+2T>C SNV Pathogenic 236072 rs886044721 1:94578527-94578527 1:94112971-94112971
16 ABCA4 NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter) SNV Pathogenic 236074 rs886044722 1:94577090-94577090 1:94111534-94111534
17 ABCA4 NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) SNV Pathogenic 236082 rs886044727 1:94528844-94528844 1:94063288-94063288
18 ABCA4 NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) SNV Pathogenic 99240 rs61752425 1:94502706-94502706 1:94037150-94037150
19 ABCA4 NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) SNV Pathogenic 236109 rs62642573 1:94496610-94496610 1:94031054-94031054
20 ABCA4 NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) SNV Pathogenic 99036 rs61751410 1:94578567-94578567 1:94113011-94113011
21 ABCA4 NM_000350.3(ABCA4):c.2160+1G>T SNV Pathogenic 236090 rs61749427 1:94526092-94526092 1:94060536-94060536
22 ABCA4 NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) SNV Pathogenic 99197 rs61751397 1:94508997-94508997 1:94043441-94043441
23 ABCA4 NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) SNV Pathogenic 236149 rs886044763 1:94463499-94463499 1:93997943-93997943
24 ABCA4 NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG Indel Pathogenic 236146 rs886044760 1:94466663-94466664 1:94001107-94001108
25 ABCA4 NM_000350.3(ABCA4):c.5196+2T>C SNV Pathogenic 99355 rs61751405 1:94485136-94485136 1:94019580-94019580
26 ABCA4 NM_000350.3(ABCA4):c.4352+1G>A SNV Pathogenic 236113 rs200967229 1:94495983-94495983 1:94030427-94030427
27 ABCA4 NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=) SNV Pathogenic 236104 rs886044737 1:94502701-94502701 1:94037145-94037145
28 ABCA4 NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter) SNV Pathogenic 99450 rs62642565 1:94466615-94466615 1:94001059-94001059
29 ABCA4 NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) SNV Pathogenic 265012 rs145961131 1:94528164-94528164 1:94062608-94062608
30 ABCA4 NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter) SNV Pathogenic 438092 rs1553190664 1:94509001-94509001 1:94043445-94043445
31 ABCA4 NM_000350.3(ABCA4):c.2587+2T>C SNV Pathogenic 590903 rs1557783989 1:94520665-94520665 1:94055109-94055109
32 ABCA4 NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) SNV Pathogenic 99517 rs61751418 1:94546151-94546151 1:94080595-94080595
33 ABCA4 NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) Deletion Pathogenic 99323 rs61752438 1:94487206-94487206 1:94021650-94021650
34 ABCA4 NM_000350.3(ABCA4):c.287del (p.Asn96fs) Deletion Pathogenic 545516 rs1553196583 1:94577009-94577009 1:94111453-94111453
35 ABCA4 NM_000350.3(ABCA4):c.6471del (p.Lys2158fs) Deletion Pathogenic 801503 rs1373168392 1:94466400-94466400 1:94000844-94000844
36 ABCA4 NM_000350.3(ABCA4):c.6221del (p.Gly2074fs) Deletion Pathogenic 801504 rs1571243037 1:94467475-94467475 1:94001919-94001919
37 ABCA4 NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs) Deletion Pathogenic 801507 rs1571257754 1:94486798-94486802 1:94021242-94021246
38 ABCA4 NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del) Deletion Pathogenic 801508 rs1571258440 1:94487436-94487441 1:94021880-94021885
39 ABCA4 NM_000350.3(ABCA4):c.4108del (p.His1370fs) Deletion Pathogenic 801509 rs1571265125 1:94497354-94497354 1:94031798-94031798
40 ABCA4 NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs) Deletion Pathogenic 801511 rs1571265241 1:94497458-94497459 1:94031902-94031903
41 ABCA4 NM_000350.3(ABCA4):c.2161-1G>A SNV Pathogenic 801517 rs1401924846 1:94522379-94522379 1:94056823-94056823
42 ABCA4 NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) Deletion Pathogenic 99026 rs63749083 1:94546095-94546108 1:94080539-94080552
43 ABCA4 NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) SNV Pathogenic 99166 rs61748529 1:94577010-94577010 1:94111454-94111454
44 ABCA4 NM_000350.3(ABCA4):c.488_491del (p.Leu163fs) Deletion Pathogenic 829880 rs747950242 1:94568650-94568653 1:94103094-94103097
45 ABCA4 NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) SNV Pathogenic 7912 rs121909207 1:94480221-94480221 1:94014665-94014665
46 ABCA4 NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter) SNV Pathogenic 801520 rs761209432 1:94586566-94586566 1:94121010-94121010
47 ABCA4 NM_000350.3(ABCA4):c.3862+1G>A SNV Pathogenic 99243 rs61751400 1:94502295-94502295 1:94036739-94036739
48 ABCA4 NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter) SNV Pathogenic 801512 rs1570367230 1:94502785-94502785 1:94037229-94037229
49 ABCA4 NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) Duplication Pathogenic 236103 rs886044736 1:94505673-94505674 1:94040117-94040118
50 ABCA4 NM_000350.3(ABCA4):c.1615_1616CT[3] (p.Leu541fs) Microsatellite Pathogenic 433181 rs1553192715 1:94528806-94528807 1:94063250-94063251

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 integral component of membrane GO:0016021 10.1 ROM1 RHO PRPH2 PROM1 MFSD8 KCNV2
2 cell projection GO:0042995 9.86 TULP1 ROM1 RHO PRPH2 PROM1 EYS
3 cilium GO:0005929 9.71 TULP1 PROM1 EYS ALMS1
4 photoreceptor disc membrane GO:0097381 9.37 RHO ABCA4
5 photoreceptor outer segment membrane GO:0042622 9.33 ROM1 RHO PROM1
6 photoreceptor outer segment GO:0001750 9.28 TULP1 ROM1 RHO PRPH2 PROM1 EYS
7 photoreceptor inner segment GO:0001917 9.26 TULP1 RHO PRPH2 CRB1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.81 TULP1 ROM1 RHO PRPH2 EYS CRX
2 retina development in camera-type eye GO:0060041 9.72 TULP1 ROM1 RHO PRPH2 CRB1
3 protein homooligomerization GO:0051260 9.69 ROM1 PRPH2 KCNV2
4 photoreceptor cell maintenance GO:0045494 9.65 TULP1 RHO PROM1 CRB1 ABCA4
5 photoreceptor cell outer segment organization GO:0035845 9.58 ROM1 PRPH2 CRB1
6 retina layer formation GO:0010842 9.56 PROM1 CRB1
7 limb morphogenesis GO:0035108 9.55 FLVCR1 COL2A1
8 eye photoreceptor cell development GO:0042462 9.54 TULP1 CRB1
9 retina morphogenesis in camera-type eye GO:0060042 9.54 ROM1 PROM1 CRB1
10 cellular response to light stimulus GO:0071482 9.52 RHO CRB1
11 protein heterooligomerization GO:0051291 9.49 ROM1 PRPH2
12 phototransduction, visible light GO:0007603 9.48 RHO ABCA4
13 protein localization to photoreceptor outer segment GO:1903546 9.46 TULP1 ROM1
14 camera-type eye photoreceptor cell differentiation GO:0060219 9.43 ROM1 PROM1
15 detection of light stimulus involved in visual perception GO:0050908 9.43 TULP1 ROM1 PRPH2 EYS CRB1 BEST1
16 visual perception GO:0007601 9.4 TULP1 ROM1 RHO PRPH2 EYS CRX

Sources for Stargardt Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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