MCID: SVR058
MIFTS: 21

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:
31ICD10 via Orphanet, 54Orphanet, 68UMLS
See all MalaCards sources

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

Name: Severe Early-Childhood-Onset Retinal Dystrophy 54
Retinal Dystrophy, Early Onset Severe 68
Early-Onset Severe Retinal Dystrophy 54
 
Secord 54
Eosrd 54

Characteristics:

Orphanet epidemiological data:

54
severe early-childhood-onset retinal dystrophy:
Inheritance: Autosomal recessive; Age of onset: Childhood

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

Orphanet54 ORPHA364055
ICD10 via Orphanet31 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 Phototransduction. Affiliated tissues include eye, and related mouse phenotypes are nervous system and vision/eye.

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 111.2
2leber congenital amaurosis10.1
3retinitis10.1
4van buchem disease9.5LCA5, RPE65
5tendinitis9.5LRAT, RPE65
6bullous skin disease9.4LCA5, SPATA7
7systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood8.7LCA5, LRAT, RPE65, SPATA7
8limbal stem cell deficiency8.6LCA5, LRAT, RPE65, SPATA7
9scar contracture8.6LCA5, 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 & Phenotypes for Severe Early-Childhood-Onset Retinal Dystrophy

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MGI Mouse Phenotypes related to Severe Early-Childhood-Onset Retinal Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.7LCA5, LRAT, RPE65, SPATA7
2MP:00053918.0LCA5, LRAT, RPE65, SPATA7

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:

36
Eye

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
1retinoid metabolic processGO:000152310.0LRAT, RPE65
2retinol metabolic processGO:004257210.0LRAT, RPE65
3response to stimulusGO:00508969.9LRAT, SPATA7
4vitamin A metabolic processGO:00067769.4LRAT, RPE65
5visual perceptionGO:00076019.0LRAT, RPE65, SPATA7

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet