MCID: SVR058
MIFTS: 21

Severe Early-Childhood-Onset Retinal Dystrophy malady

Eye diseases, Rare diseases categories

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

About this section
Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all 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


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 364055
ICD10 via Orphanet28 H35.5

Summaries for Severe Early-Childhood-Onset Retinal Dystrophy

About this section
MalaCards based summary: Severe Early-Childhood-Onset Retinal Dystrophy, also known as retinal dystrophy, early onset severe, is related to leber congenital amaurosis and retinitis. 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 Visual phototransduction and The phototransduction cascade. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and vision/eye.

Related Diseases for Severe Early-Childhood-Onset Retinal Dystrophy

About this section

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis10.4
2retinitis10.4
3stargardt disease 110.3
4ciliopathy10.3
5deficiency anemia9.9LRAT, RPE65
6juvenile dermatitis herpetiformis9.8LCA5, SPATA7
7naegeli-franceschetti-jadassohn syndrome9.8LCA5, RPE65
8retinal telangiectasia9.8LRAT, RPE65
9eye lymphoma9.7LRAT, RPE65, SPATA7
10neurilemmoma9.7LRAT, RPE65, SPATA7
11alk-positive large b-cell lymphoma9.4LCA5, LRAT, RPE65, SPATA7
12leukemia9.4LCA5, LRAT, RPE65, SPATA7
13sacrococcygeal teratoma9.4LCA5, 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

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Severe Early-Childhood-Onset Retinal Dystrophy

About this section

Anatomical Context for Severe Early-Childhood-Onset Retinal Dystrophy

About this section

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3LCA5, RPE65
2MP:00053918.6LCA5, LRAT, RPE65

Publications for Severe Early-Childhood-Onset Retinal Dystrophy

About this section

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

About this section

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

About this section
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

About this section

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

About this section

Cellular components related to Severe Early-Childhood-Onset Retinal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:00059309.0LCA5, SPATA7
2ciliary basal bodyGO:00360648.7LCA5, SPATA7

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:00015239.5LRAT, RPE65
3phototransduction, visible lightGO:00076039.4LRAT, RPE65
4retinol metabolic processGO:00425729.3LRAT, RPE65
5photoreceptor cell maintenanceGO:00454949.2LCA5, SPATA7
6visual perceptionGO:00076018.8LRAT, RPE65, SPATA7

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

About this section
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