MCID: SVR058
MIFTS: 25

Severe Early-Childhood-Onset Retinal Dystrophy

Categories: Eye diseases, Rare diseases

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

MalaCards integrated aliases for Severe Early-Childhood-Onset Retinal Dystrophy:

Name: Severe Early-Childhood-Onset Retinal Dystrophy 55
Retinal Dystrophy, Early Onset Severe 69
Early-Onset Severe Retinal Dystrophy 55
Secord 55
Eosrd 55

Characteristics:

Orphanet epidemiological data:

55
severe early-childhood-onset retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

Orphanet 55 ORPHA364055
UMLS via Orphanet 70 C1858080
ICD10 via Orphanet 33 H35.5
UMLS 69 C1858080

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 leber congenital amaurosis and retinitis. An important gene associated with Severe Early-Childhood-Onset Retinal Dystrophy is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, and related phenotypes are nervous system and pigmentation

Related Diseases for Severe Early-Childhood-Onset Retinal Dystrophy

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 ABCA4 LCA5 LRAT RPE65 SPATA7
2 pigmentation MP:0001186 9.13 ABCA4 LCA5 RPE65
3 vision/eye MP:0005391 9.02 ABCA4 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:

38
Eye

Publications for Severe Early-Childhood-Onset Retinal Dystrophy

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

# 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
# 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

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

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.8 ABCA4 LRAT RPE65

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.56 ABCA4 LRAT RPE65 SPATA7
2 photoreceptor cell maintenance GO:0045494 9.37 ABCA4 SPATA7
3 retinol metabolic process GO:0042572 9.32 LRAT RPE65
4 vitamin A metabolic process GO:0006776 9.16 LRAT RPE65
5 retinoid metabolic process GO:0001523 9.13 ABCA4 LRAT RPE65
6 visual perception GO:0007601 8.92 ABCA4 LRAT RPE65 SPATA7

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

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