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 15 73
Choroidal Dystrophy, Central Areolar 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9822
ICD9CM 35 363.53
SNOMED-CT 68 80526002
UMLS 73 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

Diseases related to Partial Central Choroid Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 choroidal dystrophy, central areolar, 1 31.7 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1 TAP1
2 choroidal dystrophy, central areolar 2 12.8
3 choroidal dystrophy, central areolar, 3 12.6
4 stargardt macular degeneration 10.2 PRPH2 RIMS1
5 peripheral retinal degeneration 10.2 PRPH2 TIMP3
6 hereditary retinal dystrophy 10.2 GUCY2D TIMP3
7 eye degenerative disease 10.2 GUCA1A GUCY2D PRPH2
8 leber congenital amaurosis 1 10.1 GUCA1A GUCA1B GUCY2D
9 leber congenital amaurosis 9 10.1 AIPL1 GUCY2D
10 cone-rod dystrophy 6 10.1 GUCA1A GUCY2D
11 cone-rod dystrophy 5 10.1 GUCY2D RCVRN
12 cone-rod dystrophy 9 10.0 GUCY2D PLIN2
13 retinal disease 10.0 AIPL1 GUCA1A GUCY2D PRPH2
14 prolonged electroretinal response suppression 10.0 GUCY2D PROM1 PRPH2
15 retinal degeneration 10.0 AIPL1 GUCA1A GUCY2D PRPH2
16 keratoconus 10.0 AIPL1 GUCY2D TIMP3
17 cone-rod dystrophy 12 10.0 PLIN2 PROM1
18 yemenite deaf-blind hypopigmentation syndrome 10.0 AIPL1 GUCY2D
19 leber congenital amaurosis 9.9 AIPL1 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1
20 macular degeneration, age-related, 1 9.8 EFEMP1 PRPH2 RING1 TIMP3
21 cone-rod dystrophy 2 9.5 AIPL1 GUCA1A GUCY2D PROM1 PRPH2 RIMS1
22 fundus dystrophy 9.4 AIPL1 EFEMP1 GUCA1A GUCA1B GUCY2D PROM1
23 retinitis pigmentosa 9.1 AIPL1 GUCA1A GUCA1B GUCY2D PLIN2 PROM1
24 hereditary choroidal atrophy 8.0 AIPL1 ARRB2 EFEMP1 GUCA1A GUCA1B GUCY2D

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ARRB2 EFEMP1 GUCY2D PAFAH1B1 PITPNA PLIN2
2 nervous system MP:0003631 9.85 AIPL1 ARRB2 GUCA1A GUCY2D PAFAH1B1 PITPNA
3 vision/eye MP:0005391 9.36 AIPL1 EFEMP1 GUCA1A GUCA1B GUCY2D PLIN2
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:

41
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 phototransduction GO:0007602 9.56 GUCA1A GUCA1B RCVRN UNC119
2 response to stimulus GO:0050896 9.56 AIPL1 GUCA1A GUCA1B GUCY2D RCVRN RIMS1
3 positive regulation of guanylate cyclase activity GO:0031284 9.5 GUCA1A GUCA1B RCVRN
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 AIPL1 GUCA1A GUCA1B GUCY2D
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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