EOSRD
MCID: SVR058
MIFTS: 26

Severe Early-Childhood-Onset Retinal Dystrophy (EOSRD)

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 58
Retinal Dystrophy, Early Onset Severe 70
Early-Onset Severe Retinal Dystrophy 58
Secord 58
Eosrd 58

Characteristics:

Orphanet epidemiological data:

58
severe early-childhood-onset retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C1858080
Orphanet 58 ORPHA364055
UMLS 70 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 13 and achromatopsia. An important gene associated with Severe Early-Childhood-Onset Retinal Dystrophy is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye and retina, and related phenotype is 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 top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 13 30.0 SPATA7 LCA5
2 achromatopsia 29.8 SPATA7 RPE65
3 retinal disease 29.8 RPE65 LRAT
4 retinitis pigmentosa 20 29.8 RPE65 LRAT
5 pathologic nystagmus 29.7 SPATA7 RPE65 LCA5
6 leber congenital amaurosis 8 29.6 SPATA7 RPE65 LCA5
7 bardet-biedl syndrome 29.5 SPATA7 RPE65 LCA5
8 joubert syndrome 1 29.5 SPATA7 RPE65 LCA5
9 retinal degeneration 29.4 SPATA7 RPE65 LRAT
10 retinitis pigmentosa 29.4 SPATA7 RPE65 LRAT LCA5
11 fundus dystrophy 29.4 SPATA7 RPE65 LRAT LCA5
12 leber congenital amaurosis 14 29.4 SPATA7 LRAT LCA5
13 leber plus disease 29.3 SPATA7 RPE65 LRAT LCA5
14 cone dystrophy 29.2 SPATA7 RPE65 LRAT LCA5
15 leber congenital amaurosis 2 29.1 SPATA7 RPE65 LRAT LCA5
16 leber congenital amaurosis 1 29.0 SPATA7 RPE65 LRAT LCA5
17 stargardt disease 29.0 SPATA7 RPE65 LRAT LCA5
18 cone-rod dystrophy 2 28.9 SPATA7 RPE65 LRAT LCA5
19 inherited retinal disorder 10.4
20 neuroretinitis 10.2
21 retinitis 10.2
22 retinal detachment 10.1
23 ocular hyperemia 10.1
24 leber congenital amaurosis / early-onset severe retinal dystrophy 10.1
25 nonsyndromic retinitis pigmentosa 10.1
26 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 10.1
27 spinocerebellar ataxia 29 10.1
28 stargardt disease 1 10.1
29 achromatopsia 3 10.1
30 short-rib thoracic dysplasia 9 with or without polydactyly 10.1
31 retinitis pigmentosa 12 10.1
32 yemenite deaf-blind hypopigmentation syndrome 10.1
33 retinitis pigmentosa 80 10.1
34 ifap syndrome 2 10.1
35 learning disability 10.1
36 refractive error 10.1
37 knobloch syndrome 10.1
38 hypotonia 10.1
39 ciliopathy 10.1
40 syndromic inherited retinal disorder 10.1
41 choroidal dystrophy, central areolar, 1 9.9 SPATA7 RPE65
42 leber congenital amaurosis 11 9.9 SPATA7 LCA5
43 leber congenital amaurosis 7 9.9 SPATA7 LCA5
44 leber congenital amaurosis 15 9.9 SPATA7 LCA5
45 leber congenital amaurosis 16 9.9 SPATA7 LCA5
46 leber congenital amaurosis 6 9.9 SPATA7 LCA5
47 nanophthalmos 9.9 RPE65 LCA5
48 usher syndrome type 2 9.8 RPE65 LCA5
49 gyrate atrophy of choroid and retina 9.8 RPE65 LRAT
50 fundus albipunctatus 9.7 RPE65 LRAT

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 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:

40
Eye, Retina

Publications for Severe Early-Childhood-Onset Retinal Dystrophy

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

(show top 50) (show all 53)
# Title Authors PMID Year
1
Executive Functioning and Narrative Language in Children With Dyslexia. 61
31200604 2019
2
Comorbid morphological disorder apparent in some children aged 4-5 years with childhood apraxia of speech: findings from standardised testing. 61
30199280 2019
3
Gene therapy for RPE65-related retinal disease. 61
30335549 2018
4
Associations Between Manual Dexterity and Language Ability in School-Age Children. 61
30286244 2018
5
Dynamic Assessment of Narratives Among Navajo Preschoolers. 61
30304364 2018
6
Predicting Language Difficulties in Middle Childhood From Early Developmental Milestones: A Comparison of Traditional Regression and Machine Learning Techniques. 61
30073346 2018
7
Retinal detachment in a child with severe early childhood onset retinal dystrophy. 61
30150358 2018
8
A Survey of Viewpoint Selection Methods for Polygonal Models. 61
33265460 2018
9
Performance of Low-Income Dual Language Learners Attending English-Only Schools on the Clinical Evaluation of Language Fundamentals-Fourth Edition, Spanish. 61
29330555 2018
10
Screening Tests Reveal High Risk Among Adjudicated Adolescents of Auditory Processing and Language Disorders. 61
29549378 2018
11
Associations Between the 2D:4D Proxy Biomarker for Prenatal Hormone Exposures and Symptoms of Developmental Language Disorder. 61
29086795 2017
12
A longitudinal study of changes in psychosocial well-being during orthognathic treatment. 61
28579266 2017
13
Comprehension of ambiguity for children with Specific Language Impairment and Autism Spectrum Disorder. 61
27982253 2016
14
Neptunism and Transformism: Robert Jameson and other Evolutionary Theorists in Early Nineteenth-Century Scotland. 61
26498767 2016
15
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. 61
27102010 2016
16
Assessing Measurement Invariance for Spanish Sentence Repetition and Morphology Elicitation Tasks. 61
26556505 2016
17
The English-Language and Reading Achievement of a Cohort of Deaf Students Speaking and Signing Standard English: A Preliminary Study. 61
27477041 2016
18
Phonological Priming With Nonwords in Children With and Without Specific Language Impairment. 61
25908226 2015
19
Psychosocial well-being of prospective orthognathic-surgical patients. 61
24850504 2014
20
Prosodic development in middle childhood and adolescence in high-functioning autism. 61
24634421 2014
21
Use of the Children's Communication Checklist-2 for classification of language impairment risk in young school-age children with attention-deficit/hyperactivity disorder. 61
24018696 2014
22
[Factors influencing body image in individuals with selected dermatological diseases]. 61
25518096 2014
23
Factors influencing the selection of standardized tests for the diagnosis of specific language impairment. 61
23633640 2013
24
Contribution of family environment to pediatric cochlear implant users' speech and language outcomes: some preliminary findings. 61
22232387 2012
25
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. 61
20811047 2011
26
Internet-based telehealth assessment of language using the CELF-4. 61
20421616 2010
27
The academic and functional academic skills of youth who are at risk for language impairment in residential care. 61
20051576 2010
28
Syntactic development in adolescents with a history of language impairments: a follow-up investigation. 61
19106210 2009
29
Comorbidity of auditory processing, language, and reading disorders. 61
19064904 2009
30
Effect of beta2-adrenergic receptor polymorphism in asthma control of patients receiving combination treatment. 61
19430548 2009
31
[Body image as a process or object and body satisfaction]. 61
20349600 2009
32
Amnesic H.M.'s performance on the language competence test: parallel deficits in memory and sentence production. 61
17852614 2008
33
Early middle ear effusion and language at age seven. 61
17418231 2008
34
Comparison of language skills of adjudicated and nonadjudicated adolescent males and females. 61
17890511 2007
35
The revision decision: is change always good? A comparison of CELF-R and CELF-3 test scores in children with language impairment, focal brain damage, and typical development. 61
17625044 2007
36
Examining the language performances of children with and without specific language impairment: contributions of phonological short-term memory and speed of processing. 61
17538115 2007
37
New MDA President Secord: "It's time to look forward again"! 61
16929698 2006
38
Exposure to 'ideal' facial images reduces facial satisfaction: an experimental study. 61
16262608 2005
39
[Language development in adolescence: semantic, syntactic and pragmatic competences]. 61
15609580 2004
40
[Influencing factors on problem behaviors among adolescents: focused on middle school students in Seoul]. 61
15314320 2004
41
[Body image in patients with dentofacial deformities treated by maxillofacial surgery]. 61
11269905 2000
42
A clinical rationale for assessing rapid automatized naming in children with language disorders. 61
15493097 2000
43
Language Testing in Adolescents With Brain Injury: A Consideration of the CELF-3. 61
27764275 1999
44
Metalinguistic and pragmatic abilities of participants in adult literacy programs. 61
8722528 1996
45
Body image disturbances in young adults with cancer. Implications for the oncology clinical nurse specialist. 61
7720052 1995
46
The Color-A-Person Body Dissatisfaction Test: stability, internal consistency, validity, and factor structure. 61
1865301 1991
47
Language-learning disabilities: Paradigms for the nineties. 61
24233754 1991
48
[Relationships among self concept, perception of aging and physical aging]. 61
3230759 1988
49
Change in unconscious concern with body image following treatment for obesity. 61
6644523 1983
50
Person-perception in adulthood: a categories analysis. 61
6671836 1983

Variations for Severe Early-Childhood-Onset Retinal Dystrophy

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 ciliary basal body GO:0036064 9.16 SPATA7 LCA5
2 axoneme GO:0005930 8.96 SPATA7 LCA5
3 photoreceptor connecting cilium GO:0032391 8.62 SPATA7 LCA5

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 9.54 SPATA7 RPE65 LRAT
2 retinoid metabolic process GO:0001523 9.32 RPE65 LRAT
3 retinol metabolic process GO:0042572 9.26 RPE65 LRAT
4 photoreceptor cell maintenance GO:0045494 9.16 SPATA7 LCA5
5 visual perception GO:0007601 9.13 SPATA7 RPE65 LRAT
6 vitamin A metabolic process GO:0006776 8.62 RPE65 LRAT

Sources for Severe Early-Childhood-Onset Retinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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