MCID: STR042
MIFTS: 11

Stargardt Disease, Autosomal Recessive malady

Genetic diseases (common) category

Summaries for Stargardt Disease, Autosomal Recessive

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34MalaCards
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MalaCards: Stargardt Disease, Autosomal Recessive, is also known as age related macular degeneration 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.

Aliases & Classifications for Stargardt Disease, Autosomal Recessive

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Sources:
21GeneTests, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

stargardt disease, autosomal recessive 21
age related macular degeneration 63
stargardt disease 1 63


Related Diseases for Stargardt Disease, Autosomal Recessive

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Symptoms for Stargardt Disease, Autosomal Recessive

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Drugs & Therapeutics for Stargardt Disease, Autosomal Recessive

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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 UMLS63/NDF-RT42:

Genetic Tests for Stargardt Disease, Autosomal Recessive

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21GeneTests
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Genetic tests related to Stargardt Disease, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Stargardt Disease, Autosomal Recessive21 CNGB3

Anatomical Context for Stargardt Disease, Autosomal Recessive

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Animal Models for Stargardt Disease, Autosomal Recessive or affiliated genes

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Publications for Stargardt Disease, Autosomal Recessive

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Variations for Stargardt Disease, Autosomal Recessive

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Stargardt Disease, Autosomal Recessive:

1 (show all 28)
id Gene Name Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)single nucleotide variantPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
2CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
3CNGB3NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp)single nucleotide variantPathogenicrs35365413GRCh37Chr 8, 87641222: 87641222
4ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
5ABCA4NM_000350.2(ABCA4): c.2791G> A (p.Val931Met)single nucleotide variantPathogenicrs58331765GRCh37Chr 1, 94512602: 94512602
6ABCA4NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val)single nucleotide variantPathogenicrs121909204GRCh37Chr 1, 94508999: 94508999
7ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)single nucleotide variantPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
8ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)single nucleotide variantPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
9ABCA4NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu)single nucleotide variantPathogenic, Uncertain significancers41292677GRCh37Chr 1, 94467548: 94467548
10ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
11ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508433: 94508434
12ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantPathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
13ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
14ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
15ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
16ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
17ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
18ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
19ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
20ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
21ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
22ABCA4NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala)single nucleotide variantPathogenicrs121909207GRCh37Chr 1, 94480221: 94480221
23ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantBenign, Pathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
24ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
25ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
26ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)single nucleotide variantPathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
27ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)single nucleotide variantPathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
28ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)single nucleotide variantPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426

Expression for genes affiliated with Stargardt Disease, Autosomal Recessive

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Stargardt Disease, Autosomal Recessive

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Pathways for genes affiliated with Stargardt Disease, Autosomal Recessive

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Compounds for genes affiliated with Stargardt Disease, Autosomal Recessive

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GO Terms for genes affiliated with Stargardt Disease, Autosomal Recessive

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Products for genes affiliated with Stargardt Disease, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stargardt Disease, Autosomal Recessive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet