MCID: STR022
MIFTS: 45

Stargardt Disease malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Stargardt Disease

About this section
Sources:
9Disease Ontology, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 31MalaCards, 30LifeMap Discovery®, 20GeneTests, 43Novoseek, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Stargardt Disease, Aliases & Descriptions:

Name: Stargardt Disease 31 30 9 41 20 47
Fundus Flavimaculatus 41 47
Stargardt Disease 1 9 60
Stargardts Disease 43 22
 
Stargardt 1 41 47
Juvenile Onset Macular Degeneration 41
Stargardt Macular Dystrophy 41
Stargardt Disease-1 31


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
stargardt disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0050817
Orphanet47 827
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0271093

Summaries for Stargardt Disease

About this section


NIH Rare Diseases:41 Stargardt disease is a genetic eye disorder that causes progressive vision loss. this disorder affects the macula, an area of the retina responsible for sharp central vision (needed for detailed tasks such as reading, driving, and recognizing faces). individuals with the condition have abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells underlying the macula, which causes central vision loss. people with stargardt disease also have problems with night vision and some people may 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 usually caused by mutations in the abca4 gene and inherited in an autosomal recessive manner, but it can also be caused by mutations in the elovl4 gene and inherited in an autosomal dominant manner. last updated: 2/26/2011

MalaCards based summary: Stargardt Disease, also known as fundus flavimaculatus, is related to retinitis and stargardt disease 1. An important gene associated with Stargardt Disease is ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4), and among its related pathways are Diseases associated with visual transduction and the visual cycle I (vertebrates). The compounds 11-cis-retinol and lipid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related mouse phenotypes are pigmentation and cellular.

Disease Ontology:9 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Wikipedia:63 Stargardt disease, or fundus flavimaculatus, is an inherited form of juvenile macular degeneration that... more...

Related Diseases for Stargardt Disease

About this section

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



Diseases related to stargardt disease

Symptoms for Stargardt Disease

About this section

Drugs & Therapeutics for Stargardt Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Stargardt Disease

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

About this section

Genetic tests related to Stargardt Disease:

id Genetic test Affiliating Genes
1 Stargardt Disease Multi-Gene Panels20
2 Stargardt's Disease22

Anatomical Context for Stargardt Disease

About this section

MalaCards organs/tissues related to Stargardt Disease:

31
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 TissueAnatomical CompartmentCell Relevance
1 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Animal Models for Stargardt Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Stargardt Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011867.9ABCA4, PRPH2, PROM1, ELOVL4, CRB1, RHO
2MP:00053847.8RHO, CNGB3, PROM1, PRPH2, SMARCA4
3MP:00053917.2RHO, ABCA4, GNAT2, PRPH2, PROM1, ELOVL4
4MP:00053857.1ABCA4, SMARCA4, GNAT2, PRPH2, PROM1, RHO
5MP:00036316.2ABCA4, SMARCA4, GNAT2, PRPH2, PROM1, ELOVL4

Publications for Stargardt Disease

About this section

Articles related to Stargardt Disease:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Morpho-functional correlation of fundus autofluorescence in Stargardt disease. (25837607)
2015
2
Dark-adapted visual function with retinal structural changes in patients with Stargardt disease. (25611879)
2015
3
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
4
Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. (24428930)
2014
5
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing. (24763286)
2014
6
Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations. (25265374)
2014
7
Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease. (24585425)
2014
8
Correlations Amongst Near-Infrared and Short-Wavelength Autofluorescence and Spectral Domain Optical Coherence Tomography in Recessive Stargardt Disease. (25342616)
2014
9
Analysis of the ABCA4 genomic locus in Stargardt disease. (25082829)
2014
10
Design, synthesis, and evaluation of nonretinoid retinol binding protein 4 antagonists for the potential treatment of atrophic age-related macular degeneration and Stargardt disease. (25210858)
2014
11
ASSOCIATION OF DARK-ADAPTED VISUAL FUNCTION WITH RETINAL STRUCTURAL CHANGES IN PATIENTS WITH STARGARDT DISEASE. (24280667)
2013
12
Fine central macular dots associated with childhood-onset Stargardt Disease. (24020726)
2013
13
THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE. (24317291)
2013
14
A longitudinal study of stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. (24265018)
2013
15
Biofeedback rehabilitation of eccentric fixation in patients with Stargardt disease. (23640508)
2013
16
Stargardt disease caused by a rare combination of double homozygous mutations. (24509150)
2013
17
Stargardt disease: towards developing a model to predict phenotype. (23695285)
2013
18
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. (23953153)
2013
19
Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients. (24342785)
2013
20
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. (23499370)
2013
21
Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. (24319520)
2012
22
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. (22661472)
2012
23
Progression of retinal pigment epithelial atrophy in stargardt disease. (22464366)
2012
24
Fundus autofluorescence patterns in stargardt disease over time-reply. (23753838)
2012
25
Treatment of Stargardt disease with dobesilate. (23076703)
2012
26
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). (22076985)
2011
27
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease. (20398653)
2010
28
DHA supplementation for late onset Stargardt disease: NAT-3 study. (20668719)
2010
29
Test-retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease. (20021256)
2010
30
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (20108396)
2010
31
Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease. (20876139)
2010
32
Educational levels in patients with stargardt disease. (20688312)
2010
33
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (19265867)
2010
34
Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD). (21297895)
2008
35
Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives. (18326749)
2008
36
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. (18334942)
2008
37
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. (17297691)
2006
38
Gene symbol: ABCA4. Disease: Stargardt disease 1. (17128450)
2006
39
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease. (15161829)
2004
40
Stargardt disease in a patient with retinoblastoma. (14609928)
2003
41
ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. (12202497)
2002
42
ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease. (10736747)
2000
43
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. (10711710)
2000
44
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. (10874631)
1999
45
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. (10090887)
1999
46
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. (9503029)
1998
47
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. (9843201)
1998
48
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). (8884286)
1996
49
Genetic fine mapping of the gene for recessive Stargardt disease. (8792830)
1996
50
Fixation patterns and reading rates in eyes with central scotomas from advanced atrophic age-related macular degeneration and Stargardt disease. (8841306)
1996

Variations for Stargardt Disease

About this section

Clinvar genetic disease variations for Stargardt Disease:

6 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.2798A> T (p.Asn933Ile)single nucleotide variantPathogenicGRCh37Chr 1, 94512595: 94512595
2ABCA4ABCA4, TRP821ARGundetermined variantPathogenic
3ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)single nucleotide variantPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
4ELOVL4ELOVL4, 5-BP DEL, NT797deletionPathogenic
5ELOVL4NM_022726.3(ELOVL4): c.789_793delTAACTinsAAC (p.Asn264Thrfs)indelPathogenicGRCh37Chr 6, 80626477: 80626481
6ELOVL4NM_022726.3(ELOVL4): c.810C> G (p.Tyr270Ter)single nucleotide variantPathogenicrs104893946GRCh37Chr 6, 80626460: 80626460
7CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
8CNGB3NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp)single nucleotide variantPathogenicrs35365413GRCh37Chr 8, 87641222: 87641222
9ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
10ABCA4NM_000350.2(ABCA4): c.2791G> A (p.Val931Met)single nucleotide variantPathogenicrs58331765GRCh37Chr 1, 94512602: 94512602
11ABCA4NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val)single nucleotide variantPathogenicrs121909204GRCh37Chr 1, 94508999: 94508999
12ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)single nucleotide variantPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
13ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)single nucleotide variantPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
14ABCA4NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu)single nucleotide variantPathogenicrs41292677GRCh37Chr 1, 94467548: 94467548
15ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
16ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508433: 94508434
17ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantPathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
18ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
19ABCA4ABCA4, IVS13, G-A, -1single nucleotide variantPathogenic
20ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
21ABCA4ABCA4, IVS5AS, A-G, -2single nucleotide variantPathogenic
22ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
23ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
24ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
25ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
26ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
27ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
28ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
29ABCA4NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala)single nucleotide variantPathogenicrs121909207GRCh37Chr 1, 94480221: 94480221
30ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantPathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
31ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
32ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
33ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)single nucleotide variantPathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
34ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)single nucleotide variantPathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
35ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)single nucleotide variantPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426

Expression for genes affiliated with Stargardt Disease

About this section
Search GEO for disease gene expression data for Stargardt Disease.

Pathways for genes affiliated with Stargardt Disease

About this section

Compounds for genes affiliated with Stargardt Disease

About this section
Sources:
43Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
111-cis-retinol43 2410.3RHO, ABCA4
2lipid438.4RHO, PROM1, SMARCA4, ABCA4

GO Terms for genes affiliated with Stargardt Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:00973819.5ABCA4, RHO
2photoreceptor inner segmentGO:00019179.1RHO, GNAT2
3photoreceptor outer segment membraneGO:00426229.0RHO, PROM1, GNAT2
4integral component of plasma membraneGO:00058878.9RHO, CNGB3, PROM1, ABCA4
5photoreceptor outer segmentGO:00017508.8RHO, CNGB3, PROM1, GNAT2

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:00454949.8ABCA4, PROM1
2retinoid metabolic processGO:00015239.6RHO, ABCA4
3phototransduction, visible lightGO:00076039.3RHO, CNGB3, ABCA4
4retina development in camera-type eyeGO:00600419.0RHO, PRPH2
5histone H3 acetylationGO:00439669.0DR1, SMARCA4
6visual perceptionGO:00076018.4RHO, CNGB3, PRPH2, GNAT2, ABCA4

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:00080209.7ELOVL4, GNAT2

Products for genes affiliated with Stargardt Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Stargardt Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet