MCID: SVR058
MIFTS: 26

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 60
Retinal Dystrophy, Early Onset Severe 74
Early-Onset Severe Retinal Dystrophy 60
Secord 60
Eosrd 60

Characteristics:

Orphanet epidemiological data:

60
severe early-childhood-onset retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


External Ids:

ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C1858080
Orphanet 60 ORPHA364055
UMLS 74 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 fundus dystrophy and leber congenital amaurosis. 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:

47
# 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:

42
Eye

Publications for Severe Early-Childhood-Onset Retinal Dystrophy

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

# Title Authors Year
1
Retinal detachment in a child with severe early childhood onset retinal dystrophy. ( 30150358 )
2018
2
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. ( 27102010 )
2016
3
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.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh38 Chromosome 1, 94079336: 94079336
3 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
4 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500

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 9.13 ABCA4 LRAT RPE65
2 axoneme GO:0005930 8.62 LCA5 SPATA7

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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