MCID: BRD009
MIFTS: 37

Bradyopsia

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Bradyopsia

MalaCards integrated aliases for Bradyopsia:

Name: Bradyopsia 54 12 50 24 25 56 71 13 14
Prolonged Electroretinal Response Suppression 12 50 25 56 71 29 42
Perrs 50 25 56 71

Characteristics:

Orphanet epidemiological data:

56
bradyopsia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 608415
Disease Ontology 12 DOID:0050335
MeSH 42 C564243
SNOMED-CT 64 711163009
Orphanet 56 ORPHA75374
ICD10 via Orphanet 34 H53.8
MedGen 40 C1842073
UMLS 69 C1842073

Summaries for Bradyopsia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 75374disease definitionbradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.epidemiologyit has been described in five unrelated patients with symptoms present since childhood.etiologythe disorder is caused by recessive mutations in the rgs9 (chromosome 17q23-q24) or r9ap (chromosome 19q13.11) genes.visit the orphanet disease page for more resources. last updated: 9/22/2006

MalaCards based summary : Bradyopsia, also known as prolonged electroretinal response suppression, is related to orofaciodigital syndrome xv and rpgrip1l-related meckel syndrome, and has symptoms including visual impairment and photophobia. An important gene associated with Bradyopsia is RGS9 (Regulator Of G Protein Signaling 9), 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

UniProtKB/Swiss-Prot : 71 Prolonged electroretinal response suppression: Characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones.

Genetics Home Reference : 25 Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.

Disease Ontology : 12 A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes.

Description from OMIM: 608415

Related Diseases for Bradyopsia

Diseases related to Bradyopsia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
id Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome xv 10.3 GUCY2D RDH5
2 rpgrip1l-related meckel syndrome 10.2 CRX GUCY2D
3 ichthyosis, congenital, autosomal recessive 2 10.1 CRX GUCY2D
4 retinitis pigmentosa 37 10.0 CRX RGS9BP
5 viral infectious disease 10.0 ABCA4 RDH5
6 epileptic encephalopathy, early infantile, 1 10.0 CRB1 CRX
7 retinitis 10.0
8 waardenburg syndrome, type 2c 10.0 ABCA4 KCNV2
9 actin-accumulation myopathy 9.9 ABCA4 PRPH2
10 leber congenital amaurosis 9 9.9 CRB1 CRX GUCY2D
11 optic atrophy 6 9.9 CRB1 CRX GUCY2D
12 leber congenital amaurosis 9.9 CRB1 CRX GUCY2D
13 stargardt disease 1 9.8 ABCA4 CRX
14 combined oxidative phosphorylation deficiency 3 9.7 PRPH2 RDH5
15 tuberculous peritonitis 9.4 GUCY2D PROM1 PRPH2
16 hypertropia 9.4 GUCY2D PROM1 PRPH2
17 macular degeneration, age-related, 1 9.1 ABCA4 CRB1 CRX PRPH2
18 tendinitis 8.8 ABCA4 CRB1 PROM1 PRPH2
19 whipple disease 8.8 ABCA4 CRB1 CRX GUCY2D PRPH2
20 limbal stem cell deficiency 8.8 ABCA4 CRB1 CRX GUCY2D PRPH2
21 hereditary breast ovarian cancer 8.4 ABCA4 CRB1 CRX GUCY2D PRPH2 RDH5
22 osteopoikilosis and dacryocystitis 8.4 ABCA4 CRB1 CRX PROM1 PRPH2
23 ichthyosis with confetti 7.7 ABCA4 CDHR1 CRB1 CRX GUCY2D PROM1
24 impetigo 7.1 ABCA4 CDHR1 CRB1 CRX GUCY2D KCNV2
25 scar contracture 6.8 ABCA4 CDHR1 CRB1 CRX DCTN1 GUCY2D
26 ciliary dyskinesia, primary, 9, with or without situs inversus 5.4 ABCA4 CD177 CDHR1 CRB1 CRX DCTN1

Graphical network of the top 20 diseases related to Bradyopsia:



Diseases related to Bradyopsia

Symptoms & Phenotypes for Bradyopsia

Clinical features from OMIM:

608415

Human phenotypes related to Bradyopsia:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 photophobia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000613
3 bradyopsia 32 HP:0030511

MGI Mouse Phenotypes related to Bradyopsia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 ABCA4 CRB1 CRX DCTN1 GNB5 GUCY2D
2 pigmentation MP:0001186 9.43 ABCA4 CRB1 CRX GNB5 PROM1 PRPH2
3 vision/eye MP:0005391 9.36 PROM1 PRPH2 RDH5 RGS9 RGS9BP ABCA4

Drugs & Therapeutics for Bradyopsia

Search Clinical Trials , NIH Clinical Center for Bradyopsia

Cochrane evidence based reviews: prolonged electroretinal response suppression

Genetic Tests for Bradyopsia

Genetic tests related to Bradyopsia:

id Genetic test Affiliating Genes
1 Prolonged Electroretinal Response Suppression 29
2 Bradyopsia 24 RGS9

Anatomical Context for Bradyopsia

MalaCards organs/tissues related to Bradyopsia:

39
Eye

Publications for Bradyopsia

Articles related to Bradyopsia:

id Title Authors Year
1
Retinal Architecture in a88RGS9- and a88R9AP-Associated Retinal Dysfunction (Bradyopsia). ( 26343007 )
2015
2
Photophobia and abnormally sustained pupil responses in a mouse model of bradyopsia. ( 25257059 )
2014
3
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). ( 19818506 )
2010
4
Bradyopsia in an Asian man. ( 17698770 )
2007
5
Six patients with bradyopsia (slow vision): clinical features and course of the disease. ( 17826834 )
2007

Variations for Bradyopsia

UniProtKB/Swiss-Prot genetic disease variations for Bradyopsia:

71
id Symbol AA change Variation ID SNP ID
1 RGS9 p.Trp299Arg VAR_017912 rs121908449

ClinVar genetic disease variations for Bradyopsia:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 RGS9BP R9AP, 1-BP INS, 194C insertion Pathogenic
2 RGS9 NM_003835.3(RGS9): c.895T> C (p.Trp299Arg) single nucleotide variant Pathogenic rs121908449 GRCh37 Chromosome 17, 63193278: 63193278
3 DCTN1 NM_004082.4(DCTN1): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs72466485 GRCh37 Chromosome 2, 74605195: 74605195
4 DCTN1 NM_004082.4(DCTN1): c.221A> C (p.Gln74Pro) single nucleotide variant Pathogenic rs72466487 GRCh37 Chromosome 2, 74605185: 74605185
5 DCTN1 NM_004082.4(DCTN1): c.212G> A (p.Gly71Glu) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
6 DCTN1 NM_004082.4(DCTN1): c.212G> C (p.Gly71Ala) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
7 DCTN1 NM_004082.4(DCTN1): c.214A> C (p.Thr72Pro) single nucleotide variant Pathogenic rs72466486 GRCh37 Chromosome 2, 74605192: 74605192
8 DCTN1 NM_004082.4(DCTN1): c.233A> G (p.Tyr78Cys) single nucleotide variant Pathogenic rs886039229 GRCh38 Chromosome 2, 74378046: 74378046
9 DCTN1 NM_004082.4(DCTN1): c.200G> A (p.Gly67Asp) single nucleotide variant Pathogenic rs886039228 GRCh37 Chromosome 2, 74605206: 74605206
10 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Pathogenic rs566433112 GRCh38 Chromosome 2, 74378112: 74378112
11 DCTN1 NM_004082.4(DCTN1): c.156T> G (p.Phe52Leu) single nucleotide variant Pathogenic rs886039227 GRCh38 Chromosome 2, 74378123: 74378123

Expression for Bradyopsia

Search GEO for disease gene expression data for Bradyopsia.

Pathways for Bradyopsia

GO Terms for Bradyopsia

Cellular components related to Bradyopsia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 ABCA4 CD177 CDHR1 CRB1 DCTN1 GNB5
2 photoreceptor inner segment GO:0001917 9.32 GNB5 RGS9
3 photoreceptor outer segment membrane GO:0042622 9.26 CDHR1 PROM1
4 photoreceptor disc membrane GO:0097381 9.13 ABCA4 GUCY2D RGS9
5 photoreceptor outer segment GO:0001750 9.02 ABCA4 GNB5 PROM1 PRPH2 RGS9BP

Biological processes related to Bradyopsia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 ABCA4 CRX GUCY2D RDH5 RGS9 RGS9BP
2 photoreceptor cell maintenance GO:0045494 9.33 ABCA4 CDHR1 PROM1
3 dopamine receptor signaling pathway GO:0007212 9.26 GNB5 RGS9
4 visual perception GO:0007601 9.17 ABCA4 CRX GUCY2D PRPH2 RDH5 RGS9

Sources for Bradyopsia

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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