EOSRD
MCID: SVR058
MIFTS: 25

Severe Early-Childhood-Onset Retinal Dystrophy (EOSRD) malady

Eye diseases, Rare diseases categories
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Summaries for Severe Early-Childhood-Onset Retinal Dystrophy

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MalaCards based summary: Severe Early-Childhood-Onset Retinal Dystrophy, also known as retinal dystrophy, early onset severe, is related to leber congenital amaurosis and retinal dystrophy, early-onset, severe. An important gene associated with Severe Early-Childhood-Onset Retinal Dystrophy is LCA5 (Leber congenital amaurosis 5), and among its related pathways are Diseases associated with visual transduction and Chemical carcinogenesis. The compounds retinyl ester and retinoid have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and nervous system.

Aliases & Classifications for Severe Early-Childhood-Onset Retinal Dystrophy

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Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Severe Early-Childhood-Onset Retinal Dystrophy, Aliases & Descriptions:

Name: Severe Early-Childhood-Onset Retinal Dystrophy 48
Retinal Dystrophy, Early Onset Severe 62
Early-Onset Severe Retinal Dystrophy 48
 
Secord 48
Eosrd 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
severe early-childhood-onset retinal dystrophy:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

ICD10 via Orphanet26 H35.5

Related Diseases for Severe Early-Childhood-Onset Retinal Dystrophy

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Diseases related to Severe Early-Childhood-Onset Retinal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.4LRAT, RPE65
2retinal dystrophy, early-onset, severe10.6
3retinitis10.4
4blindness9.9LCA5, RPE65
5night blindness9.8RPE65, LRAT
6rhyns syndrome9.8RPE65, LRAT
7retinal degeneration9.7RPE65, LRAT
8fundus dystrophy9.7LCA5, RPE65, LRAT

Graphical network of diseases related to Severe Early-Childhood-Onset Retinal Dystrophy:



Diseases related to severe early-childhood-onset retinal dystrophy

Symptoms for Severe Early-Childhood-Onset Retinal Dystrophy

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Drugs & Therapeutics for Severe Early-Childhood-Onset Retinal Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Severe Early-Childhood-Onset Retinal Dystrophy

Search NIH Clinical Center for Severe Early-Childhood-Onset Retinal Dystrophy

Genetic Tests for Severe Early-Childhood-Onset Retinal Dystrophy

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Anatomical Context for Severe Early-Childhood-Onset Retinal Dystrophy

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MalaCards organs/tissues related to Severe Early-Childhood-Onset Retinal Dystrophy:

32
Eye

Animal Models for Severe Early-Childhood-Onset Retinal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Severe Early-Childhood-Onset Retinal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0LCA5, RPE65
2MP:00036318.5LCA5, RPE65, LRAT
3MP:00053918.4LCA5, RPE65, LRAT

Publications for Severe Early-Childhood-Onset Retinal Dystrophy

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Articles related to Severe Early-Childhood-Onset Retinal Dystrophy:

idTitleAuthorsYear
1
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. (20811047)
2011

Variations for Severe Early-Childhood-Onset Retinal Dystrophy

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Expression for genes affiliated with Severe Early-Childhood-Onset Retinal Dystrophy

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Expression patterns in normal tissues for genes affiliated with Severe Early-Childhood-Onset Retinal Dystrophy

Search GEO for disease gene expression data for Severe Early-Childhood-Onset Retinal Dystrophy.

Pathways for genes affiliated with Severe Early-Childhood-Onset Retinal Dystrophy

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Compounds for genes affiliated with Severe Early-Childhood-Onset Retinal Dystrophy

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Severe Early-Childhood-Onset Retinal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinyl ester44 2410.0RPE65, LRAT
2retinoid449.0RPE65, LRAT
311-cis-retinol44 249.9RPE65, LRAT
4vitamin a44 24 1110.7RPE65, LRAT

GO Terms for genes affiliated with Severe Early-Childhood-Onset Retinal Dystrophy

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Biological processes related to Severe Early-Childhood-Onset Retinal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin A metabolic processGO:0067769.0RPE65, LRAT
2phototransduction, visible lightGO:0076039.0RPE65, LRAT
3retinoid metabolic processGO:0015238.7RPE65, LRAT
4visual perceptionGO:0076018.4RPE65, LRAT, SPATA7

Products for genes affiliated with Severe Early-Childhood-Onset Retinal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet