EOSRD
MCID: SVR058
MIFTS: 24

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

Eye diseases, Rare diseases categories

Summaries for Severe Early-Childhood-Onset Retinal Dystrophy

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34MalaCards
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MalaCards: Severe Early-Childhood-Onset Retinal Dystrophy, also known as early-onset severe retinal dystrophy, 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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50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
severe early-childhood-onset retinal dystrophy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

severe early-childhood-onset retinal dystrophy 50
early-onset severe retinal dystrophy 50
secord 50
eosrd 50


External Ids:

ICD10 via Orphanet27 H35.5

Related Diseases for Severe Early-Childhood-Onset Retinal Dystrophy

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18GeneCards, 19GeneDecks
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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 amaurosis30.5LRAT, RPE65
2retinal dystrophy, early-onset, severe10.6
3retinitis10.4
4blindness10.0LCA5, RPE65
5night blindness10.0RPE65, LRAT
6rhyns syndrome10.0RPE65, LRAT
7retinal degeneration9.9RPE65, LRAT
8fundus dystrophy9.9LCA5, 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Severe Early-Childhood-Onset Retinal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Severe Early-Childhood-Onset Retinal Dystrophy

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

Search CenterWatch 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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34MalaCards
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MalaCards organs/tissues related to Severe Early-Childhood-Onset Retinal Dystrophy:

34
Eye

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

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38MGI
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MGI Mouse Phenotypes related to Severe Early-Childhood-Onset Retinal Dystrophy:

38
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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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 56Reactome, 31KEGG, 61Thomson Reuters, 52PharmGKB, 39NCBI BioSystems Database, 54QIAGEN
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Compounds for genes affiliated with Severe Early-Childhood-Onset Retinal Dystrophy

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Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Severe Early-Childhood-Onset Retinal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinyl ester46 2510.0RPE65, LRAT
2retinoid469.0RPE65, LRAT
311-cis-retinol46 259.9RPE65, LRAT
4vitamin a46 25 1210.7RPE65, LRAT

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

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17Gene Ontology
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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
  • Antibodies

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

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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