MCID: CHR080
MIFTS: 26

Choroidal Sclerosis malady

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Choroidal Sclerosis

About this section

Aliases & Descriptions for Choroidal Sclerosis:

Name: Choroidal Sclerosis 11 26 38 13 67
 
Choroidal Degenerations 11

Classifications:



External Ids:

Disease Ontology11 DOID:980
ICD1029 H31.1, H31.10
ICD9CM31 363.4, 363.40
MeSH38 C535358

Summaries for Choroidal Sclerosis

About this section
MalaCards based summary: Choroidal Sclerosis, also known as choroidal degenerations, is related to localized scleroderma and choroideremia. An important gene associated with Choroidal Sclerosis is PRPH2 (Peripherin 2), and among its related pathways are Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Choroidal Sclerosis

About this section

Graphical network of diseases related to Choroidal Sclerosis:



Diseases related to choroidal sclerosis

Symptoms for Choroidal Sclerosis

About this section

Drugs & Therapeutics for Choroidal Sclerosis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Choroidal Sclerosis


Cochrane evidence based reviews: choroidal sclerosis

Genetic Tests for Choroidal Sclerosis

About this section

Genetic tests related to Choroidal Sclerosis:

id Genetic test Affiliating Genes
1 Choroidal Sclerosis26

Anatomical Context for Choroidal Sclerosis

About this section

MalaCards organs/tissues related to Choroidal Sclerosis:

35
Eye

Animal Models for Choroidal Sclerosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Choroidal Sclerosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1GUCA1A, GUCA1B, GUCY2D, PRPH2

Publications for Choroidal Sclerosis

About this section

Articles related to Choroidal Sclerosis:

(show all 17)
idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Choroidal Sclerosis

About this section
Search GEO for disease gene expression data for Choroidal Sclerosis.

Pathways for genes affiliated with Choroidal Sclerosis

About this section

GO Terms for genes affiliated with Choroidal Sclerosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00019179.0GUCA1A, GUCA1B
2photoreceptor disc membraneGO:00973818.8GUCA1A, GUCA1B, GUCY2D

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1receptor guanylyl cyclase signaling pathwayGO:00071689.7GUCA1B, GUCY2D
2regulation of guanylate cyclase activityGO:00312829.7GUCA1A, GUCA1B
3positive regulation of guanylate cyclase activityGO:00312849.6GUCA1A, GUCA1B
4phototransductionGO:00076029.5GUCA1A, GUCA1B
5response to stimulusGO:00508969.4CYP4V2, RIMS1
6regulation of rhodopsin mediated signaling pathwayGO:00224008.9GUCA1A, GUCA1B, GUCY2D
7visual perceptionGO:00076017.1CYP4V2, GUCA1A, GUCA1B, GUCY2D, PRPH2, RIMS1

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

idNameGO IDScoreTop Affiliating Genes
1guanylate cyclase regulator activityGO:00302499.1GUCA1A, GUCA1B
2calcium sensitive guanylate cyclase activator activityGO:00080489.0GUCA1A, GUCA1B

Sources for Choroidal Sclerosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet