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:
51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

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

Name: Severe Early-Childhood-Onset Retinal Dystrophy 51
Retinal Dystrophy, Early Onset Severe 65
Early-Onset Severe Retinal Dystrophy 51
 
Secord 51
Eosrd 51

Characteristics:

Orphanet epidemiological data:

51
severe early-childhood-onset retinal dystrophy:
Inheritance: Autosomal recessive; Age of onset: Childhood

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Orphanet51 364055
ICD10 via Orphanet28 H35.5
UMLS65 C1858080

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 sapho syndrome. An important gene associated with Severe Early-Childhood-Onset Retinal Dystrophy is RPE65 (Retinal Pigment Epithelium-Specific Protein 65kDa), 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 pigmentation 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 111.7
2sapho syndrome10.3
3breast cancer10.2
4diploid-triploid mosaicism10.2
5deficiency anemia9.9LRAT, RPE65
6fundus dystrophy9.6LCA5, SPATA7
7alk-positive large b-cell lymphoma9.0LCA5, LRAT, RPE65, SPATA7
8bullous skin disease9.0LCA5, LRAT, RPE65, SPATA7
9leukemia9.0LCA5, LRAT, RPE65, SPATA7
10sacrococcygeal teratoma8.8LCA5, 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:

33
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:

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idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1LCA5, RPE65
2MP:00036318.0LCA5, LRAT, RPE65, SPATA7
3MP:00053917.7LCA5, 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
A case of papillary adenocarcinoma of the choroid plexus. (5408369)
1969

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
1retinol metabolic processGO:00425729.9LRAT, RPE65
2visual perceptionGO:00076019.4LRAT, RPE65

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet