MCID: CHR080
MIFTS: 26

Choroidal Sclerosis malady

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Choroidal Sclerosis

Aliases & Descriptions for Choroidal Sclerosis:

Name: Choroidal Sclerosis 12 29 42 14 69
Choroidal Degenerations 12

Classifications:



External Ids:

Disease Ontology 12 DOID:980
ICD10 33 H31.1 H31.10
ICD9CM 35 363.4 363.40
MeSH 42 C535358
UMLS 69 C0344297

Summaries for Choroidal Sclerosis

MalaCards based summary : Choroidal Sclerosis, also known as choroidal degenerations, is related to partial central choroid dystrophy and choroideremia. An important gene associated with Choroidal Sclerosis is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Choroidal Sclerosis

Graphical network of the top 20 diseases related to Choroidal Sclerosis:



Diseases related to Choroidal Sclerosis

Symptoms & Phenotypes for Choroidal Sclerosis

MGI Mouse Phenotypes related to Choroidal Sclerosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 GUCA1A GUCA1B GUCY2D PRPH2 CYP4V2

Drugs & Therapeutics for Choroidal Sclerosis

Search Clinical Trials , NIH Clinical Center for Choroidal Sclerosis

Cochrane evidence based reviews: choroidal sclerosis

Genetic Tests for Choroidal Sclerosis

Genetic tests related to Choroidal Sclerosis:

id Genetic test Affiliating Genes
1 Choroidal Sclerosis 29

Anatomical Context for Choroidal Sclerosis

MalaCards organs/tissues related to Choroidal Sclerosis:

39
Eye

Publications for Choroidal Sclerosis

Articles related to Choroidal Sclerosis:

(show all 17)
id Title Authors Year
1
Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis. ( 20224472 )
2010
2
Choroidal sclerosis in localized scleroderma (morphea en plaque). ( 18223304 )
2008
3
Annular choroidal sclerosis. ( 952825 )
1976
4
Degenerative choroidal sclerosis with a peculiar bilateral pattern. ( 1147496 )
1975
5
X-linked choroidal sclerosis. A stage of choroideremia. ( 4827609 )
1974
6
Senile choroidal sclerosis. ( 4694397 )
1973
7
Fluorescein studies of choroidal sclerosis. ( 5100469 )
1971
8
Circinate choroidal sclerosis. ( 5425205 )
1970
9
Fluorescein photography in choroidal sclerosis. ( 5764681 )
1969
10
CENTRAL CHOROIDAL SCLEROSIS. A CLINICAL AND PATHOLOGIC STUDY. ( 14195983 )
1964
11
Choroidal sclerosis; a possible intermediate sex-linked form. ( 13293325 )
1956
12
Generalized choroidal sclerosis; course and mode of inheritance. ( 14378508 )
1955
13
Central areolar choroidal sclerosis; a histo-pathological study. ( 13032370 )
1953
14
Central areolar choroidal sclerosis. ( 13032369 )
1953
15
Familial Central and Peripapillary Choroidal Sclerosis Associated with Familial Pseudoxanthoma Elasticum. ( 16693479 )
1948
16
Choroidal Sclerosis: (Section of Ophthalmology). ( 19990208 )
1935
17
Choroidal Sclerosis. ( 19985446 )
1926

Variations for Choroidal Sclerosis

Expression for Choroidal Sclerosis

Search GEO for disease gene expression data for Choroidal Sclerosis.

Pathways for Choroidal Sclerosis

GO Terms for Choroidal Sclerosis

Cellular components related to Choroidal Sclerosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.16 GUCA1A PRPH2
2 photoreceptor inner segment GO:0001917 8.96 GUCA1A GUCA1B
3 photoreceptor disc membrane GO:0097381 8.8 GUCA1A GUCA1B GUCY2D

Biological processes related to Choroidal Sclerosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 CYP4V2 GUCA1A GUCA1B GUCY2D RIMS1
2 phototransduction GO:0007602 9.4 GUCA1A GUCA1B
3 positive regulation of guanylate cyclase activity GO:0031284 9.37 GUCA1A GUCA1B
4 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 GUCA1B GUCY2D
5 regulation of guanylate cyclase activity GO:0031282 9.26 GUCA1A GUCA1B
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.13 GUCA1A GUCA1B GUCY2D
7 visual perception GO:0007601 9.1 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1

Molecular functions related to Choroidal Sclerosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 GUCA1A GUCA1B
2 guanylate cyclase regulator activity GO:0030249 8.62 GUCA1A GUCA1B

Sources for Choroidal Sclerosis

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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