MCID: STR042
MIFTS: 27

Stargardt Disease, Autosomal Recessive malady

Summaries for Stargardt Disease, Autosomal Recessive

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Stargardt Disease, Autosomal Recessive, also known as age related macular degeneration, is related to blindness and stargardt disease. An important gene associated with Stargardt Disease, Autosomal Recessive is CNGB3 (cyclic nucleotide gated channel beta 3). The drugs interferon alfa-2a and interferon alfa-2b have been mentioned in the context of this disorder. Related mouse phenotypes are pigmentation and nervous system.

Aliases & Classifications for Stargardt Disease, Autosomal Recessive

Sources:
61UMLS, 20GeneTests
See all sources

Aliases & Descriptions:

stargardt disease, autosomal recessive 20
age related macular degeneration 61
stargardt disease 1 61


Related Diseases for Stargardt Disease, Autosomal Recessive

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Stargardt Disease, Autosomal Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1blindness30.7ABCA4, CRB1
2stargardt disease30.3ABCA4, CNGB3
3age related macular degeneration11.0
4stargardt macular degeneration10.8
5char syndrome10.7
6charles bonnet syndrome10.7
7scotoma10.7
8age-related macular degeneration 110.7
9diabetic macular edema10.6
10central serous chorioretinopathy10.6
11n syndrome10.6
12atherosclerosis10.6
13macular dystrophy10.6
14retinal drusen10.5
15vitelliform macular dystrophy10.5
16age-related macular degeneration 210.5
17age-related macular degeneration 810.5
18retinitis pigmentosa10.5
19kuhnt-junius degeneration10.5
20vascular disease10.5
21late-onset retinal degeneration10.5
22age-related macular degeneration 310.5
23age-related macular degeneration 410.5
24age-related macular degeneration 510.5
25age-related macular degeneration 610.5
26age-related macular degeneration 710.5
27age-related macular degeneration 910.5
28autosomal recessive disease10.4
29cutis laxa10.4
30alzheimer's disease10.4
31vitreous detachment10.4
32uveitis10.4
33adult-onset vitelliform macular dystrophy10.4
34abca4-related stargardt disease 110.4
35cngb3-related stargardt disease 110.4
36coronary artery disease,10.2
37parkinson's disease10.2
38membranoproliferative glomerulonephritis10.2
39macular corneal dystrophy10.2
40choroiditis10.2
41cystoid macular edema10.2
42systemic lupus erythematosus10.2
43pinguecula10.2
44primary open angle glaucoma10.2
45protein s deficiency10.2
46degenerative myopia10.2
47protein c deficiency10.2
48cone dystrophy10.2
49hemolytic-uremic syndrome10.2
50amyloidosis10.2

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



Diseases related to stargardt disease, autosomal recessive

Clinical Features for Stargardt Disease, Autosomal Recessive

Drugs & Therapeutics for Stargardt Disease, Autosomal Recessive

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Stargardt Disease, Autosomal Recessive

Drug clinical trials:

Search ClinicalTrials for Stargardt Disease, Autosomal Recessive

Search NIH Clinical Center for Stargardt Disease, Autosomal Recessive

Search CenterWatch for Stargardt Disease, Autosomal Recessive

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Stargardt Disease, Autosomal Recessive

Sources:
20GeneTests
See all sources

Genetic tests related to Stargardt Disease, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Stargardt Disease, Autosomal Recessive20 CNGB3

Anatomical Context for Stargardt Disease, Autosomal Recessive

Animal Models for Stargardt Disease, Autosomal Recessive or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Stargardt Disease, Autosomal Recessive:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8ABCA4, CRB1
2MP:00036318.5ABCA4, CNGB3, CRB1
3MP:00053918.4ABCA4, CNGB3, CRB1

Publications for Stargardt Disease, Autosomal Recessive

Sources:
51PubMed
See all sources

Articles related to Stargardt Disease, Autosomal Recessive:

idTitleAuthorsYear
1
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. (23096905)
2012
2
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease. (19352439)
2009
3
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. (18977788)
2009
4
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. (18334942)
2008
5
Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa. (18506364)
2008
6
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. (17893657)
2007
7
Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease. (11804194)
2001
8
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
9
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. (10612508)
1999
10
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. (9466990)
1998

Genetic Variations for Stargardt Disease, Autosomal Recessive

Expression for genes affiliated with Stargardt Disease, Autosomal Recessive

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Stargardt Disease, Autosomal Recessive

Search GEO for disease gene expression data for Stargardt Disease, Autosomal Recessive.

Pathways for genes affiliated with Stargardt Disease, Autosomal Recessive

Compounds for genes affiliated with Stargardt Disease, Autosomal Recessive

GO Terms for genes affiliated with Stargardt Disease, Autosomal Recessive

Sources:
16Gene Ontology
See all sources

Biological processes related to Stargardt Disease, Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transportGO:0068109.0ABCA4, CNGB3
2phototransduction, visible lightGO:0076038.9ABCA4, CNGB3
3visual perceptionGO:0076018.7ABCA4, CNGB3

Products for genes affiliated with Stargardt Disease, Autosomal Recessive

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stargardt Disease, Autosomal Recessive

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet