MCID: SVR058
MIFTS: 22

Severe Early-Childhood-Onset Retinal Dystrophy malady

Categories: Eye diseases, Rare diseases

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

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Sources:
52Orphanet, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Severe Early-Childhood-Onset Retinal Dystrophy:

Name: Severe Early-Childhood-Onset Retinal Dystrophy 52
Retinal Dystrophy, Early Onset Severe 66
Early-Onset Severe Retinal Dystrophy 52
 
Secord 52
Eosrd 52

Characteristics:

Orphanet epidemiological data:

52
severe early-childhood-onset retinal dystrophy:
Inheritance: Autosomal recessive; Age of onset: Childhood

Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

Orphanet52 ORPHA364055
ICD10 via Orphanet29 H35.5

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 stargardt disease 1 and leber congenital amaurosis. An important gene associated with Severe Early-Childhood-Onset Retinal Dystrophy is RPE65 (RPE65, Retinoid Isomerohydrolase), and among its related pathways are Metabolism of fat-soluble vitamins and Metabolism of xenobiotics by cytochrome P450. Affiliated tissues include eye, and related mouse phenotypes are vision/eye and nervous system.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1stargardt disease 111.3
2leber congenital amaurosis10.2
3retinitis10.2
4van buchem disease9.5LCA5, RPE65
5tendinitis9.5LRAT, RPE65
6bullous skin disease9.3LCA5, SPATA7
7systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood8.5LCA5, LRAT, RPE65, SPATA7
8limbal stem cell deficiency8.5LCA5, LRAT, RPE65, SPATA7
9scar contracture8.4LCA5, LRAT, RPE65, SPATA7

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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Interventional clinical trials:

Search ClinicalTrials, 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.0LCA5, LRAT, RPE65, SPATA7
2MP:00036317.7LCA5, LRAT, RPE65, SPATA7

Publications for Severe Early-Childhood-Onset Retinal Dystrophy

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

idTitleAuthorsYear
1
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. (27102010)
2016
2
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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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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vitamin A metabolic processGO:000677610.0LRAT, RPE65
2retinoid metabolic processGO:00015239.6LRAT, RPE65
3response to stimulusGO:00508969.6LRAT, SPATA7
4retinol metabolic processGO:00425729.4LRAT, RPE65
5visual perceptionGO:00076018.8LRAT, RPE65, SPATA7

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet