MCID: PRT032
MIFTS: 20

Partial Central Choroid Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Partial Central Choroid Dystrophy

MalaCards integrated aliases for Partial Central Choroid Dystrophy:

Name: Partial Central Choroid Dystrophy 12 15 70
Choroidal Dystrophy, Central Areolar 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9822
ICD9CM 34 363.53
SNOMED-CT 67 193468002
UMLS 70 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 Phototransduction and Metabolism of fat-soluble vitamins. Related phenotypes are nervous system and vision/eye

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 top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 choroidal dystrophy, central areolar, 1 28.7 ROM1 RIMS1 PRPH2 PITPNM3 OR6C75 GUCY2D
2 choroidal dystrophy, central areolar 2 11.9
3 choroidal dystrophy, central areolar, 3 11.7
4 peripheral retinal degeneration 10.2 PRPH2 ABCA4
5 vitreoretinochoroidopathy 10.2 PRPH2 ABCA4
6 butterfly-shaped pigment dystrophy 10.2 ROM1 PRPH2
7 bestrophinopathy, autosomal recessive 10.2 PRPH2 ABCA4
8 macular dystrophy, concentric annular 10.2 CRX ABCA4
9 night blindness 10.2 PRPH2 GUCY2D ABCA4
10 exudative vitreoretinopathy 5 10.1 ROM1 PRPH2
11 occult macular dystrophy 10.1 PRPH2 GUCY2D ABCA4
12 cone-rod dystrophy 8 10.1 GUCY2D AIPL1
13 pseudopapilledema 10.1 GUCY2D AIPL1
14 choroid disease 10.1 PRPH2 GUCY2D ABCA4
15 retinitis 10.1 ROM1 PRPH2 ABCA4
16 choroideremia 10.1 PRPH2 GUCY2D ABCA4
17 isolated macular dystrophy 10.1 PRPH2 GUCA1A ABCA4
18 leber congenital amaurosis 16 10.1 GUCY2D AIPL1
19 doyne honeycomb retinal dystrophy 10.1 PRPH2 ABCA4
20 usher syndrome type 2 10.1 PRPH2 GUCY2D ABCA4
21 scotoma 10.1 GUCY2D GUCA1A ABCA4
22 digenic disease 10.1 PRPH2 CRX
23 pattern dystrophy 10.0 ROM1 PRPH2 CRX
24 cone-rod dystrophy 3 10.0 GUCY2D CRX ABCA4
25 degeneration of macula and posterior pole 10.0 PRPH2 CRX ABCA4
26 late-onset retinal degeneration 10.0 PRPH2 CRX ABCA4
27 retinoschisis 1, x-linked, juvenile 10.0 GUCY2D CRX ABCA4
28 retinitis pigmentosa 1 10.0 ROM1 PRPH2 CRX
29 pigmented paravenous chorioretinal atrophy 10.0 GUCY2D AIPL1 ABCA4
30 aland island eye disease 10.0 GUCY2D ABCA4
31 yemenite deaf-blind hypopigmentation syndrome 10.0 GUCY2D AIPL1 ABCA4
32 retinitis pigmentosa 25 10.0 RIMS1 PRPH2
33 color blindness 10.0 GUCY2D AIPL1 ABCA4
34 stargardt macular degeneration 10.0 RIMS1 PRPH2 ABCA4
35 sensory system disease 10.0 GUCY2D CRX ABCA4
36 leber congenital amaurosis 7 9.9 GUCY2D CRX AIPL1
37 leber congenital amaurosis 8 9.9 GUCY2D CRX AIPL1
38 leber congenital amaurosis 6 9.9 GUCY2D CRX AIPL1
39 enhanced s-cone syndrome 9.9 ROM1 CRX
40 leber congenital amaurosis 9 9.9 GUCY2D CRX AIPL1
41 leber congenital amaurosis 10 9.9 GUCY2D CRX AIPL1
42 leber congenital amaurosis 3 9.9 GUCY2D CRX AIPL1
43 leber congenital amaurosis 4 9.9 GUCY2D CRX AIPL1
44 leber congenital amaurosis 2 9.9 GUCY2D CRX AIPL1
45 hereditary retinal dystrophy 9.9 PRPH2 GUCY2D CRX ABCA4
46 cone-rod dystrophy 7 9.9 RIMS1 PITPNM3
47 cone dystrophy 3 9.9 GUCA1B GUCA1A
48 stargardt disease 1 9.9 ROM1 PRPH2 CRX ABCA4
49 cone-rod dystrophy 5 9.8 RIMS1 PITPNM3 GUCY2D
50 optic nerve hypoplasia, bilateral 9.8 CRX ABCA4

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 nervous system MP:0003631 9.56 ABCA4 AIPL1 CRX GUCA1A GUCY2D PRPH2
2 vision/eye MP:0005391 9.23 ABCA4 AIPL1 CRX GUCA1A GUCA1B GUCY2D

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

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 cell projection GO:0042995 9.8 ROM1 RIMS1 PRPH2 PITPNM3 GUCY2D GUCA1B
2 photoreceptor inner segment GO:0001917 9.46 PRPH2 GUCA1B GUCA1A AIPL1
3 photoreceptor outer segment membrane GO:0042622 9.32 ROM1 GUCY2D
4 photoreceptor disc membrane GO:0097381 9.26 GUCY2D GUCA1B GUCA1A ABCA4
5 photoreceptor outer segment GO:0001750 9.1 ROM1 PRPH2 GUCY2D GUCA1B GUCA1A ABCA4

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 9.65 ROM1 RIMS1 PRPH2 OR6C75 GUCY2D GUCA1B
2 detection of light stimulus involved in visual perception GO:0050908 9.46 ROM1 PRPH2
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 GUCY2D GUCA1B GUCA1A AIPL1
4 photoreceptor cell outer segment organization GO:0035845 9.43 ROM1 PRPH2
5 positive regulation of guanylate cyclase activity GO:0031284 9.4 GUCA1B GUCA1A
6 receptor guanylyl cyclase signaling pathway GO:0007168 9.37 GUCY2D GUCA1B
7 protein heterooligomerization GO:0051291 9.32 ROM1 PRPH2
8 visual perception GO:0007601 9.28 ROM1 RIMS1 PRPH2 GUCY2D GUCA1B GUCA1A
9 phototransduction, visible light GO:0007603 9.26 AIPL1 ABCA4

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid transporter activity GO:0005548 8.96 PITPNM3 ABCA4
2 calcium sensitive guanylate cyclase activator activity GO:0008048 8.62 GUCA1B GUCA1A

Sources for Partial Central Choroid Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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