MCID: CHR080
MIFTS: 26

Choroidal Sclerosis malady

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Choroidal Sclerosis

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Aliases & Descriptions for Choroidal Sclerosis:

Name: Choroidal Sclerosis 11 27 39 13 68
 
Choroidal Degenerations 11

Classifications:



External Ids:

Disease Ontology11 DOID:980
ICD1030 H31.1, H31.10
ICD9CM32 363.4, 363.40
MeSH39 C535358

Summaries for Choroidal Sclerosis

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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 are Phototransduction and Development_Thrombopoetin signaling via JAK-STAT pathway. Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Choroidal Sclerosis

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



Diseases related to choroidal sclerosis

Symptoms & Phenotypes for Choroidal Sclerosis

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MGI Mouse Phenotypes related to Choroidal Sclerosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.6CYP4V2, GUCA1A, GUCA1B, GUCY2D, PRPH2

Drugs & Therapeutics for Choroidal Sclerosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Choroidal Sclerosis


Cochrane evidence based reviews: choroidal sclerosis

Genetic Tests for Choroidal Sclerosis

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Genetic tests related to Choroidal Sclerosis:

id Genetic test Affiliating Genes
1 Choroidal Sclerosis27

Anatomical Context for Choroidal Sclerosis

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MalaCards organs/tissues related to Choroidal Sclerosis:

36
Eye

Publications for Choroidal Sclerosis

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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

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Expression for genes affiliated with Choroidal Sclerosis

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Search GEO for disease gene expression data for Choroidal Sclerosis.

Pathways for genes affiliated with Choroidal Sclerosis

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GO Terms for genes affiliated with Choroidal Sclerosis

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00019179.7GUCA1A, GUCA1B
2photoreceptor outer segmentGO:00017509.6GUCA1A, PRPH2
3photoreceptor disc membraneGO:00973819.1GUCA1A, GUCA1B, GUCY2D

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phototransductionGO:00076029.9GUCA1A, GUCA1B
2positive regulation of guanylate cyclase activityGO:00312849.9GUCA1A, GUCA1B
3regulation of guanylate cyclase activityGO:00312829.9GUCA1A, GUCA1B
4receptor guanylyl cyclase signaling pathwayGO:00071689.7GUCA1B, GUCY2D
5regulation of rhodopsin mediated signaling pathwayGO:00224009.3GUCA1A, GUCA1B, GUCY2D
6response to stimulusGO:00508968.1CYP4V2, GUCA1A, GUCA1B, GUCY2D, RIMS1
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:00302499.2GUCA1A, GUCA1B
2calcium sensitive guanylate cyclase activator activityGO:00080489.1GUCA1A, GUCA1B

Sources for Choroidal Sclerosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet