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MCID: LTN004
MIFTS: 40
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Late-Onset Retinal Degeneration
Categories:
Genetic diseases, Rare diseases, Eye diseases
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MalaCards integrated aliases for Late-Onset Retinal Degeneration:
Characteristics:Orphanet epidemiological data:59
late-onset retinal degeneration
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy; HPO:32Classifications: |
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67042Disease definitionLate-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.Visit the Orphanet disease page for more resources.
MalaCards based summary : Late-Onset Retinal Degeneration, also known as lord, is related to retinitis and retinal degeneration. An important gene associated with Late-Onset Retinal Degeneration is C1QTNF5 (C1q And TNF Related 5), and among its related pathways/superpathways are Pyruvate metabolism and Propanoate metabolism. The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are rod-cone dystrophy and retinal degeneration Disease Ontology : 12 A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material basis in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. OMIM : 57 Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). (605670) UniProtKB/Swiss-Prot : 75 Late-onset retinal degeneration: Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. |
Diseases in the Retinal Degeneration family:
Diseases related to Late-Onset Retinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:(show all 14)
Graphical network of the top 20 diseases related to Late-Onset Retinal Degeneration:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:605670Human phenotypes related to Late-Onset Retinal Degeneration:32
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Drugs for Late-Onset Retinal Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 14)
Interventional clinical trials:
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MalaCards organs/tissues related to Late-Onset Retinal Degeneration:41
Eye,
Retina
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Articles related to Late-Onset Retinal Degeneration:(show all 18)
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Late-Onset Retinal Degeneration:75
ClinVar genetic disease variations for Late-Onset Retinal Degeneration:6
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Search
GEO
for disease gene expression data for Late-Onset Retinal Degeneration.
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Biological processes related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:
Molecular functions related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:
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