MCID: PRT032
MIFTS: 23

Partial Central Choroid Dystrophy

Categories: Eye diseases

Aliases & Classifications for Partial Central Choroid Dystrophy

MalaCards integrated aliases for Partial Central Choroid Dystrophy:

Name: Partial Central Choroid Dystrophy 12 14 69
Choroidal Dystrophy, Central Areolar 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9822
ICD9CM 34 363.53
SNOMED-CT 64 193468002 80526002
UMLS 69 C0339427

Summaries for Partial Central Choroid Dystrophy

MalaCards based summary : Partial Central Choroid Dystrophy, also known as choroidal dystrophy, central areolar, is related to choroidal dystrophy, central areolar, 1 and choroidal dystrophy, central areolar 2. An important gene associated with Partial Central Choroid Dystrophy is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Wnt / Hedgehog / Notch. Affiliated tissues include eye, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Partial Central Choroid Dystrophy

Graphical network of the top 20 diseases related to Partial Central Choroid Dystrophy:



Diseases related to Partial Central Choroid Dystrophy

Symptoms & Phenotypes for Partial Central Choroid Dystrophy

MGI Mouse Phenotypes related to Partial Central Choroid Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 UNC119 ARRB2 EFEMP1 PAFAH1B1 PITPNA PLIN2
2 nervous system MP:0003631 9.85 AIPL1 ARRB2 GUCA1A GUCY2D PAFAH1B1 PITPNA
3 vision/eye MP:0005391 9.36 PROM1 PRPH2 RCVRN TIMP3 UNC119 AIPL1
4 pigmentation MP:0001186 9.35 EFEMP1 PROM1 PRPH2 TIMP3 UNC119

Drugs & Therapeutics for Partial Central Choroid Dystrophy

Search Clinical Trials , NIH Clinical Center for Partial Central Choroid Dystrophy

Genetic Tests for Partial Central Choroid Dystrophy

Anatomical Context for Partial Central Choroid Dystrophy

MalaCards organs/tissues related to Partial Central Choroid Dystrophy:

38
Eye

Publications for Partial Central Choroid Dystrophy

Variations for Partial Central Choroid Dystrophy

Expression for Partial Central Choroid Dystrophy

Search GEO for disease gene expression data for Partial Central Choroid Dystrophy.

Pathways for Partial Central Choroid Dystrophy

GO Terms for Partial Central Choroid Dystrophy

Cellular components related to Partial Central Choroid Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.13 AIPL1 GUCA1A GUCA1B
2 photoreceptor disc membrane GO:0097381 8.8 GUCA1A GUCA1B GUCY2D

Biological processes related to Partial Central Choroid Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.56 AIPL1 GUCA1A GUCA1B GUCY2D RCVRN RIMS1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.5 GUCA1A GUCA1B GUCY2D
3 phototransduction GO:0007602 9.46 GUCA1A GUCA1B RCVRN UNC119
4 positive regulation of guanylate cyclase activity GO:0031284 9.43 GUCA1A GUCA1B RCVRN
5 receptor guanylyl cyclase signaling pathway GO:0007168 9.4 GUCA1B GUCY2D
6 regulation of guanylate cyclase activity GO:0031282 9.37 GUCA1A GUCA1B
7 visual perception GO:0007601 9.36 AIPL1 EFEMP1 GUCA1A GUCA1B GUCY2D PITPNA

Molecular functions related to Partial Central Choroid Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanylate cyclase regulator activity GO:0030249 8.96 GUCA1A GUCA1B
2 calcium sensitive guanylate cyclase activator activity GO:0008048 8.8 GUCA1A GUCA1B RCVRN

Sources for Partial Central Choroid Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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