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MCID: STR022
MIFTS: 59
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Stargardt Disease
Categories:
Rare diseases, Eye diseases, Genetic diseases
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MalaCards integrated aliases for Stargardt Disease:
Characteristics:Orphanet epidemiological data:59
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:
ICD10:
34
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NIH Rare Diseases
:
53
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.
MalaCards based summary : Stargardt Disease, also known as stargardt disease 1, is related to stargardt disease 1 and stargardt macular degeneration. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are ABC transporters and Fatty acid elongation. 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 reduced visual acuity and abnormality of color vision Disease Ontology : 12 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. Wikipedia : 76 Stargardt disease is the most common inherited retinal disease. It usually has an autosomal recessive... more... |
Human phenotypes related to Stargardt Disease:59 32 (show all 19)
GenomeRNAi Phenotypes related to Stargardt Disease according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Stargardt Disease:46
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Drugs for Stargardt Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 19)
Interventional clinical trials:(show all 31)
Cell-based therapeutics:
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:
Embryonic/Adult Cultured Cells Related to Stargardt Disease:
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Genetic tests related to Stargardt Disease:
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MalaCards organs/tissues related to Stargardt Disease:41
Eye,
Retina,
Testes,
Cortex
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Stargardt Disease:
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Articles related to Stargardt Disease:(show top 50) (show all 267)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Stargardt Disease:6
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Search
GEO
for disease gene expression data for Stargardt Disease.
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Pathways related to Stargardt Disease according to KEGG:37
Pathways related to Stargardt Disease according to GeneCards Suite gene sharing:
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Cellular components related to Stargardt Disease according to GeneCards Suite gene sharing:
Biological processes related to Stargardt Disease according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Stargardt Disease according to GeneCards Suite gene sharing:
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