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 59
Retinal Dystrophy, Early Onset Severe 73
Early-Onset Severe Retinal Dystrophy 59
Secord 59
Eosrd 59

Characteristics:

Orphanet epidemiological data:

59
severe early-childhood-onset retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA364055
UMLS via Orphanet 74 C1858080
ICD10 via Orphanet 34 H35.5
UMLS 73 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 LRAT RPE65 SPATA7 ABCA4 LCA5
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:

41
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.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 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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