EOSRD
MCID: SVR058
MIFTS: 21

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

Categories: Eye diseases, Rare diseases

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

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

Name: Severe Early-Childhood-Onset Retinal Dystrophy 56
Retinal Dystrophy, Early Onset Severe 69
Early-Onset Severe Retinal Dystrophy 56
Secord 56
Eosrd 56

Characteristics:

Orphanet epidemiological data:

56
severe early-childhood-onset retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

Orphanet 56 ORPHA364055
ICD10 via Orphanet 34 H35.5

Summaries for Severe Early-Childhood-Onset Retinal Dystrophy

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/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, and related phenotypes are nervous system and vision/eye

Related Diseases for Severe Early-Childhood-Onset Retinal Dystrophy

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 stargardt disease 1 11.2
2 leber congenital amaurosis 10.1
3 retinitis 10.1
4 tendinosis 9.9 LRAT RPE65
5 charcot-marie-tooth disease, axonal, type 20 9.9 LCA5 SPATA7
6 bartholin's duct cyst 9.8 LCA5 SPATA7
7 leber congenital amaurosis 9 9.8 LCA5 RPE65
8 2p13.2 microdeletion syndrome 9.5 LCA5 LRAT RPE65 SPATA7
9 puerperal pulmonary embolism 9.4 LCA5 LRAT RPE65 SPATA7
10 liver cirrhosis 9.4 LCA5 LRAT RPE65 SPATA7
11 sertoli cell-only syndrome 9.4 LCA5 LRAT RPE65 SPATA7

Graphical network of the top 20 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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 LCA5 LRAT RPE65 SPATA7
2 vision/eye MP:0005391 8.92 LCA5 LRAT RPE65 SPATA7

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

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

Genetic Tests for Severe Early-Childhood-Onset Retinal Dystrophy

Anatomical Context for Severe Early-Childhood-Onset Retinal Dystrophy

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

39
Eye

Publications for Severe Early-Childhood-Onset Retinal Dystrophy

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

id Title Authors Year
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

ClinVar genetic disease variations for Severe Early-Childhood-Onset Retinal Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh37 Chromosome 1, 94544892: 94544892
2 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056

Expression for Severe Early-Childhood-Onset Retinal Dystrophy

Search GEO for disease gene expression data for Severe Early-Childhood-Onset Retinal Dystrophy.

Pathways for Severe Early-Childhood-Onset Retinal Dystrophy

GO Terms for Severe Early-Childhood-Onset Retinal Dystrophy

Biological processes related to Severe Early-Childhood-Onset Retinal Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 LRAT RPE65 SPATA7
2 retinoid metabolic process GO:0001523 9.26 LRAT RPE65
3 retinol metabolic process GO:0042572 9.16 LRAT RPE65
4 visual perception GO:0007601 9.13 LRAT RPE65 SPATA7
5 vitamin A metabolic process GO:0006776 8.62 LRAT RPE65

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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