MCID: STR022
MIFTS: 56

Stargardt Disease malady

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Stargardt Disease

Aliases & Descriptions for Stargardt Disease:

Name: Stargardt Disease 39 38 12 50 24 56 14
Stargardt Disease 1 12 69
Juvenile Onset Macular Degeneration 50
Stargardt Macular Dystrophy 50
Fundus Flavimaculatus 56
Stargardt Disease-1 39
Stargardt's Disease 29
Stargardt 1 56

Characteristics:

Orphanet epidemiological data:

56
stargardt disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050817
Orphanet 56 ORPHA827
UMLS via Orphanet 70 C0271093
ICD10 via Orphanet 34 H35.5

Summaries for Stargardt Disease

NIH Rare Diseases : 50 stargardt disease is a genetic eye disorder that causes progressive vision loss. it affects the macula, an area of the retina responsible for sharp, central vision. vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. people with stargardt disease also have problems with night vision, and some have problems with color vision. the signs and symptoms of stargardt disease typically appear in late childhood to early adulthood and worsen over time. it is most commonly caused by mutations in the abca4 gene and inherited in an autosomal recessive manner. rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. there is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence. last updated: 3/7/2016

MalaCards based summary : Stargardt Disease, also known as stargardt disease 1, is related to stargardt disease 1 and stargardt disease 4, and has symptoms including abnormality of visual evoked potentials, reduced visual acuity and abnormality of the fovea. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Metabolism of fat-soluble vitamins. The drugs Vitamin A and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are nervous system and pigmentation

Disease Ontology : 12 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Wikipedia : 71 Stargardt disease, or fundus flavimaculatus, is the most frequent form of inherited juvenile macular... more...

Related Diseases for Stargardt Disease

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 4
Stargardt Disease 3 Stargardt Disease, Autosomal Recessive
Abca4-Related Stargardt Disease 1 Cngb3-Related Stargardt Disease 1

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 stargardt disease 1 12.3
2 stargardt disease 4 12.2
3 stargardt disease 3 12.1
4 stargardt disease, autosomal recessive 11.8
5 abca4-related stargardt disease 1 11.8
6 cngb3-related stargardt disease 1 11.8
7 stargardt macular degeneration 11.0
8 multifocal pattern dystrophy simulating fundus flavimaculatus 10.8
9 retinitis 10.5
10 syne2-related emery-dreifuss muscular dystrophy 10.3 ABCA4 CNGB3
11 lacrimal duct defect 10.3 CNGB3 GNAT2
12 familial isolated restrictive cardiomyopathy 10.3 CNGB3 GNAT2
13 cataract 27, nuclear progressive 10.3 ABCA4 ELOVL4
14 2p13.2 microdeletion syndrome 10.3 LRAT RPE65
15 colorblindness, deutan 10.3 CNGB3 RHO
16 cardiomyopathy, dilated, 1k 10.3 PRPH2 RIMS1
17 arthrogryposis, distal, type 2a 10.3 CNGB3 GNAT2 RPGR
18 branchial cleft anomalies branchial cysts, included 10.2 RDH12 RHO
19 cortisone reductase deficiency 1 10.2 RDH12 RHO
20 bartholin's duct cyst 10.2 CRB1 RHO
21 retinitis pigmentosa 10.2
22 fountain syndrome 10.2 ABCA4 RPE65
23 inflammatory bowel disease 20 10.2 CNGB3 RDH12 RPGR
24 refractive error 10.2 PRPH2 RIMS1
25 lipoyltransferase 1 deficiency 10.2 CNGB3 GNAT2
26 somatization disorder 10.2 CNGB3 RHO
27 hypertrichosis terminalis, generalized, with or without gingival hyperplasia 10.2 ABCA4 CRB1 PROM1 PRPH2
28 ichthyosis, congenital, autosomal recessive 3 10.2 RHO RPE65
29 partial central choroid dystrophy 10.2 PROM1 PRPH2 RIMS1
30 monofixation syndrome 10.2 PROM1 PRPH2 RIMS1
31 lipoprotein lipase deficiency 10.2 CNGB3 RHO
32 restless legs syndrome 6 10.2 IMPG1 PRPH2
33 deafness, autosomal dominant 48 10.2 PRPH2 RHO RPE65
34 leber congenital amaurosis 9 10.2 CRB1 RDH12 RPE65
35 microvascular complications of diabetes 4 10.2 MERTK RPE65
36 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 10.2 CNGB3 CRB1 GNAT2 RPE65
37 vitreoretinochoroidopathy 10.1 ABCA4 IMPG1 PRPH2
38 retinitis pigmentosa 34 10.1 ABCA4 CNGB3 RHO RPE65
39 lumbosacral plexus lesion 10.1 ABCA4 CNGB3 RHO RPE65
40 hypopigmentation of eyelid 10.1 CNGB3 RHO
41 46xy sex reversal 3 10.1 MYO7A RHO RPGR
42 placental choriocarcinoma 10.1 ABCA4 ELOVL4 RHO RPE65
43 acute erythroid leukemia 10.1 CNGB3 GNAT2 RPE65 RPGR
44 choroiditis 10.1
45 cone-rod dystrophy 7 10.1 ELOVL4 IMPG1 RIMS1
46 choriodal dystrophy, central areolar 2 10.0 PRPH2 RHO
47 charcot-marie-tooth disease intermediate type 10.0 ABCA4 CNGB3 RHO RPE65 RPGR
48 cone-rod dystrophy 10.0
49 epidural spinal canal angiolipoma 10.0 CRB1 PRPH2 RHO RPE65 RPGR
50 retinitis pigmentosa 19 10.0 ABCA4 CNGB3 ELOVL4 GNAT2 LRAT RHO

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



Diseases related to Stargardt Disease

Symptoms & Phenotypes for Stargardt Disease

Human phenotypes related to Stargardt Disease:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of visual evoked potentials 56 32 Very frequent (99-80%) HP:0000649
2 reduced visual acuity 56 32 Obligate (100%) HP:0007663
3 abnormality of the fovea 56 32 Very frequent (99-80%) HP:0000493
4 abnormality of color vision 56 32 Very frequent (99-80%) HP:0000551
5 central scotoma 56 32 Very frequent (99-80%) HP:0000603
6 macular degeneration 56 32 Very frequent (99-80%) HP:0000608
7 abnormality of the choroid 56 32 Very frequent (99-80%) HP:0000610
8 paroxysmal involuntary eye movements 56 32 Very frequent (99-80%) HP:0007704
9 abnormality of macular pigmentation 56 32 Very frequent (99-80%) HP:0008002
10 retinal thinning 56 32 Very frequent (99-80%) HP:0030329
11 aplasia/hypoplasia of the macula 56 32 Frequent (79-30%) HP:0008059
12 yellow/white lesions of the macula 56 32 Frequent (79-30%) HP:0030500
13 night blindness 56 Very frequent (99-80%)
14 loss of retinal pigment epithelium 56 Very frequent (99-80%)
15 salt and pepper retinopathy 56 Very frequent (99-80%)
16 nyctalopia 32 HP:0000662
17 retinal pigment epithelial atrophy 32 HP:0007722
18 retinal pigment epithelial mottling 32 HP:0007814

MGI Mouse Phenotypes related to Stargardt Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 CRB1 ELOVL4 GNAT2 LRAT MERTK MYO7A
2 pigmentation MP:0001186 9.73 CRB1 ELOVL4 MERTK MYO7A PROM1 PRPH2
3 vision/eye MP:0005391 9.5 ABCA4 CNGB3 CRB1 ELOVL4 GNAT2 LRAT

Drugs & Therapeutics for Stargardt Disease

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

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 11103-57-4, 68-26-8 445354
2
acetic acid Approved, Nutraceutical Phase 2,Phase 1 64-19-7 176
3
Retinol acetate Phase 2,Phase 1 127-47-9 10245972
4 Vitamins Phase 2,Phase 1
5 Retinol palmitate Phase 2,Phase 1
6 Pharmaceutical Solutions Phase 1, Phase 2
7 retinol Nutraceutical Phase 2,Phase 1
8
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
9 Protective Agents Phase 1
10 Antidotes Phase 1
11 Omega 3 Fatty Acid Nutraceutical Phase 1
12
Hydroxychloroquine Approved 118-42-3 3652
13 Anti-Infective Agents
14 Antimalarials
15 Antirheumatic Agents
16 Antiparasitic Agents
17 Antiprotozoal Agents

Interventional clinical trials:

(show all 29)
id Name Status NCT ID Phase
1 Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular Dystrophy Completed NCT01345006 Phase 1, Phase 2
2 Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01469832 Phase 1, Phase 2
3 Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Recruiting NCT03033108 Phase 2
4 Phase I/IIa Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01367444 Phase 1, Phase 2
5 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2
6 Stem Cell Therapy for Outer Retinal Degenerations Recruiting NCT02903576 Phase 1, Phase 2
7 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
8 A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular Degeneration Enrolling by invitation NCT01736592 Phase 1, Phase 2
9 Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD) Unknown status NCT01625559 Phase 1
10 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1
11 Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy Completed NCT00060749 Phase 1
12 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1
13 Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration Diseases Recruiting NCT02749734 Phase 1
14 A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies Completed NCT01977846
15 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
16 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
17 Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene Recruiting NCT01145196
18 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
19 Natural History of Eye Diseases Related to ABCA4 Mutations Recruiting NCT01736293
20 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
21 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
22 Stem Cell Ophthalmology Treatment Study Recruiting NCT01920867
23 High Resolution Retinal Imaging Recruiting NCT01866371
24 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Active, not recruiting NCT02410122
25 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
26 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
27 DHA Supplementation in Patients With STGD3 Active, not recruiting NCT00420602
28 Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine) Not yet recruiting NCT03180190
29 Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766

Search NIH Clinical Center for Stargardt Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Stargardt Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Stargardt Disease:
MA09-hRPE, embryonic retinal pigmented epithelial cells for degenerative macular diseases
Embryonic/Adult Cultured Cells Related to Stargardt Disease:
Mature retinal pigmented epithelium cells PMIDs: 19521979 22281388

Genetic Tests for Stargardt Disease

Genetic tests related to Stargardt Disease:

id Genetic test Affiliating Genes
1 Stargardt Disease 29 24

Anatomical Context for Stargardt Disease

MalaCards organs/tissues related to Stargardt Disease:

39
Eye, Retina, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Stargardt Disease:
id Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Publications for Stargardt Disease

Articles related to Stargardt Disease:

(show top 50) (show all 222)
id Title Authors Year
1
Novel therapeutics for Stargardt disease. ( 28285324 )
2017
2
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. ( 28118664 )
2017
3
Macular hole in Stargardt disease: Clinical and ultra-structural observation. ( 28121212 )
2017
4
CHOROIDAL THICKNESS IN PATIENTS WITH STARGARDT DISEASE. ( 28198784 )
2017
5
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. ( 28290600 )
2017
6
Complement modulation in the retinal pigment epithelium rescues photoreceptor degeneration in a mouse model of Stargardt disease. ( 28348233 )
2017
7
STARGARDT DISEASE: Beyond Flecks and Atrophy. ( 28099317 )
2017
8
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease. ( 28288486 )
2017
9
Reading ability and quality of life in Stargardt disease. ( 28430335 )
2017
10
Optical Coherence Tomography Angiography Findings in Stargardt Disease. ( 28151966 )
2017
11
Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease. ( 28365912 )
2017
12
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE. ( 28248825 )
2017
13
Stargardt disease-associated mutation spectrum of a Russian Federation cohort. ( 27939946 )
2017
14
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. ( 28355279 )
2017
15
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. ( 27775217 )
2016
16
Fluorescence Lifetime Imaging in Stargardt Disease: Potential Marker for Disease Progression. ( 26934141 )
2016
17
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease. ( 28050124 )
2016
18
MAPPING THE DENSE SCOTOMA AND ITS ENLARGEMENT IN STARGARDT DISEASE. ( 26909568 )
2016
19
Residual visual function in a man with a large subfoveal outer retinal tubulation in late-onset Stargardt disease. ( 26949114 )
2016
20
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10Ta89C Mutation in Stargardt Disease. ( 26976702 )
2016
21
Progression of Late-Onset Stargardt Disease. ( 27699414 )
2016
22
Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. ( 27030965 )
2016
23
Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene. ( 27116512 )
2016
24
En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease. ( 27409479 )
2016
25
En face OCT in Stargardt disease. ( 26743751 )
2016
26
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). ( 27378015 )
2016
27
Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? ( 26427432 )
2016
28
Asymmetric Inter-Eye Progression in Stargardt Disease. ( 28002570 )
2016
29
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease. ( 26981328 )
2016
30
COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE. ( 26583307 )
2016
31
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. ( 26786511 )
2016
32
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families. ( 27739528 )
2016
33
Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography. ( 27628426 )
2016
34
Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial. ( 27730010 )
2016
35
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. ( 26780318 )
2016
36
Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients. ( 27813578 )
2016
37
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. ( 27491360 )
2016
38
Fixation Improvement through Biofeedback Rehabilitation in Stargardt Disease. ( 27212950 )
2016
39
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. ( 25837607 )
2015
40
Ranibizumab for subfoveal choroidal neovascularisation associated with Stargardt disease. ( 25740804 )
2015
41
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy. ( 26311262 )
2015
42
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. ( 25922843 )
2015
43
Epiretinal membrane removal in patients with Stargardt disease. ( 25686068 )
2015
44
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis. ( 26161775 )
2015
45
Choroidal hyperreflective foci in stargardt disease shown by spectral-domain optical coherence tomography imaging: correlation with disease severity. ( 25590640 )
2015
46
Bicyclic [3.3.0]-Octahydrocyclopenta[c]pyrrolo Antagonists of Retinol Binding Protein 4: Potential Treatment of Atrophic Age-Related Macular Degeneration and Stargardt Disease. ( 26181715 )
2015
47
Estimation of depression prevalence in patients with Stargardt disease using PHQ-9 and Zung scores. ( 26541115 )
2015
48
The effect of light deprivation in patients withA stargardt disease. ( 25681002 )
2015
49
Choroidal Thickness in Eyes With Central Geographic Atrophy Secondary to Stargardt Disease and Age-Related Macular Degeneration. ( 26431296 )
2015
50
Colour Vision in Stargardt Disease. ( 26492201 )
2015

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

6 (show top 50) (show all 102)
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh37 Chromosome 1, 94508999: 94508999
2 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
3 ABCA4 NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61749438 GRCh37 Chromosome 1, 94520689: 94520689
4 ABCA4 NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys) single nucleotide variant Pathogenic rs61750061 GRCh37 Chromosome 1, 94508976: 94508976
5 ABCA4 NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs) insertion Pathogenic rs61750064 GRCh37 Chromosome 1, 94508434: 94508435
6 ABCA4 NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg) single nucleotide variant Pathogenic rs61753034 GRCh37 Chromosome 1, 94473283: 94473283
7 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
8 ABCA4 NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp) single nucleotide variant Pathogenic rs61748548 GRCh37 Chromosome 1, 94546115: 94546115
9 ABCA4 ABCA4, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
10 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
11 ABCA4 NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909205 GRCh37 Chromosome 1, 94586550: 94586550
12 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic,risk factor rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
13 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh37 Chromosome 1, 94481322: 94481322
14 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
15 ABCA4 NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala) single nucleotide variant Pathogenic rs121909207 GRCh37 Chromosome 1, 94480221: 94480221
16 ABCA4 ABCA4, TRP821ARG undetermined variant Pathogenic
17 ABCA4 NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys) single nucleotide variant Pathogenic rs61751399 GRCh37 Chromosome 1, 94506923: 94506923
18 ABCA4 NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750120 GRCh37 Chromosome 1, 94508323: 94508323
19 ABCA4 NM_000350.2(ABCA4): c.4540-2A> G single nucleotide variant Pathogenic rs61752435 GRCh37 Chromosome 1, 94490606: 94490606
20 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
21 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
22 ABCA4 NM_000350.2(ABCA4): c.122G> A (p.Trp41Ter) single nucleotide variant Pathogenic rs61751410 GRCh37 Chromosome 1, 94578567: 94578567
23 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
24 ABCA4 NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
25 ABCA4 NM_000350.2(ABCA4): c.1760+2T> G single nucleotide variant Pathogenic rs61751385 GRCh37 Chromosome 1, 94528666: 94528666
26 ABCA4 NM_000350.2(ABCA4): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic rs61749409 GRCh37 Chromosome 1, 94528266: 94528266
27 ABCA4 NM_000350.2(ABCA4): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs61749414 GRCh37 Chromosome 1, 94528167: 94528167
28 ABCA4 NM_000350.2(ABCA4): c.1937+1G> A single nucleotide variant Pathogenic rs61752401 GRCh37 Chromosome 1, 94528132: 94528132
29 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh37 Chromosome 1, 94526316: 94526316
30 ABCA4 NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic/Likely pathogenic rs62654395 GRCh37 Chromosome 1, 94577102: 94577102
31 ABCA4 NM_000350.2(ABCA4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs201738997 GRCh37 Chromosome 1, 94586601: 94586601
32 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212
33 ABCA4 NM_000350.2(ABCA4): c.2300T> A (p.Val767Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61751395 GRCh37 Chromosome 1, 94522239: 94522239
34 ABCA4 NM_000350.2(ABCA4): c.2564G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61752406 GRCh37 Chromosome 1, 94520690: 94520690
35 ABCA4 NM_000350.2(ABCA4): c.296dupA (p.Asn99Lysfs) duplication Pathogenic rs62645948 GRCh37 Chromosome 1, 94577000: 94577000
36 ABCA4 NM_000350.2(ABCA4): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs61751397 GRCh37 Chromosome 1, 94508997: 94508997
37 ABCA4 NM_000350.2(ABCA4): c.3808G> T (p.Glu1270Ter) single nucleotide variant Pathogenic rs61752425 GRCh37 Chromosome 1, 94502706: 94502706
38 ABCA4 NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys) single nucleotide variant Pathogenic/Likely pathogenic rs62642573 GRCh37 Chromosome 1, 94496610: 94496610
39 ABCA4 NM_000350.2(ABCA4): c.4234C> T (p.Gln1412Ter) single nucleotide variant Pathogenic rs61750137 GRCh37 Chromosome 1, 94496571: 94496571
40 ABCA4 NM_000350.2(ABCA4): c.4457C> T (p.Pro1486Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61750145 GRCh37 Chromosome 1, 94495083: 94495083
41 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh37 Chromosome 1, 94495078: 94495078
42 ABCA4 NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr) single nucleotide variant Pathogenic rs61751402 GRCh37 Chromosome 1, 94495071: 94495071
43 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) duplication Pathogenic/Likely pathogenic rs281865377 GRCh37 Chromosome 1, 94495003: 94495003
44 ABCA4 NM_000350.2(ABCA4): c.454C> T (p.Arg152Ter) single nucleotide variant Pathogenic rs62646861 GRCh37 Chromosome 1, 94568687: 94568687
45 ABCA4 NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 GRCh37 Chromosome 1, 94490567: 94490567
46 ABCA4 NM_000350.2(ABCA4): c.4594G> A (p.Asp1532Asn) single nucleotide variant Pathogenic/Likely pathogenic rs62642574 GRCh37 Chromosome 1, 94490550: 94490550
47 ABCA4 NM_000350.2(ABCA4): c.45G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs62645957 GRCh37 Chromosome 1, 94586557: 94586557
48 ABCA4 NM_000350.2(ABCA4): c.4610C> T (p.Thr1537Met) single nucleotide variant Pathogenic rs62642575 GRCh37 Chromosome 1, 94490534: 94490534
49 ABCA4 NM_000350.2(ABCA4): c.4793C> A (p.Ala1598Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61750155 GRCh37 Chromosome 1, 94487251: 94487251
50 ABCA4 NM_000350.2(ABCA4): c.4919G> A (p.Arg1640Gln) single nucleotide variant Pathogenic rs61751403 GRCh37 Chromosome 1, 94486895: 94486895

Expression for Stargardt Disease

Search GEO for disease gene expression data for Stargardt Disease.

Pathways for Stargardt Disease

Pathways related to Stargardt Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 LRAT RDH12 RDH8 RHO RPE65
2
Show member pathways
12.03 ABCA4 LRAT MYO7A RDH12 RDH8 RHO
3
Show member pathways
11.93 CNGB3 GNAT2 LRAT RDH12 RHO RPE65
4 11.27 LRAT RDH12 RDH8 RPE65
5
Show member pathways
10.91 ABCA4 LRAT MYO7A RDH12 RDH8 RHO
6 10.86 CNGB3 GNAT2 LRAT RDH12 RDH8 RHO

GO Terms for Stargardt Disease

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

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.87 ABCA4 CNGB3 MERTK PROM1 PRPH2 RDH8
2 photoreceptor inner segment GO:0001917 9.43 GNAT2 MYO7A RHO
3 photoreceptor disc membrane GO:0097381 9.37 ABCA4 RHO
4 photoreceptor outer segment GO:0001750 9.28 ABCA4 CNGB3 GNAT2 MERTK MYO7A PROM1
5 photoreceptor inner segment membrane GO:0060342 9.16 RDH12 RHO
6 photoreceptor outer segment membrane GO:0042622 9.13 GNAT2 PROM1 RHO

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.67 MERTK PRPH2 RHO RPE65
2 response to stimulus GO:0050896 9.65 ABCA4 CNGB3 GNAT2 LRAT RDH12 RDH8
3 photoreceptor cell maintenance GO:0045494 9.62 ABCA4 PROM1 RDH12 RHO
4 retinol metabolic process GO:0042572 9.56 LRAT RDH12 RDH8 RPE65
5 retinoid metabolic process GO:0001523 9.55 ABCA4 LRAT RDH12 RHO RPE65
6 response to light stimulus GO:0009416 9.52 RHO RPE65
7 eye photoreceptor cell development GO:0042462 9.51 CRB1 MYO7A
8 detection of light stimulus involved in visual perception GO:0050908 9.49 GNAT2 RPE65
9 sensory perception of light stimulus GO:0050953 9.48 MYO7A RHO
10 retina morphogenesis in camera-type eye GO:0060042 9.46 PROM1 RPE65
11 visual perception GO:0007601 9.44 ABCA4 CNGB3 GNAT2 IMPG1 LRAT MYO7A
12 phototransduction, visible light GO:0007603 9.43 ABCA4 RHO
13 vitamin A metabolic process GO:0006776 9.4 LRAT RPE65

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

id Name GO ID Score Top Affiliating Genes
1 retinol dehydrogenase activity GO:0004745 9.16 RDH12 RDH8
2 NADP-retinol dehydrogenase activity GO:0052650 8.96 RDH12 RDH8
3 G-protein coupled photoreceptor activity GO:0008020 8.62 ELOVL4 GNAT2

Sources for Stargardt Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....