CACD
MCID: PRT032
MIFTS: 26

Partial Central Choroid Dystrophy (CACD) malady

Categories: Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Partial Central Choroid Dystrophy

Aliases & Descriptions for Partial Central Choroid Dystrophy:

Name: Partial Central Choroid Dystrophy 12 14 69
Choroidal Dystrophy Central Areolar 50 52
Central Areolar Choroidal Dystrophy 50 56
Central Areolar Choroidal Sclerosis 56 69
Choroidal Dystrophy, Central Areolar 12
Areolar Atrophy of the Macula 56
Cacd 56

Characteristics:

Orphanet epidemiological data:

56
central areolar choroidal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:9822
ICD9CM 35 363.53
SNOMED-CT 64 193468002 80526002
Orphanet 56 ORPHA75377
MESH via Orphanet 43 C535358
ICD10 via Orphanet 34 H31.2
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 choriodal dystrophy, central areolar 2 and cardiomyopathy, dilated, 1k. 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 Phototransduction. Affiliated tissues include eye, and related phenotypes are nervous system and pigmentation

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 AIPL1 ARRB2 ERG GUCA1A GUCY2D PAFAH1B1
2 pigmentation MP:0001186 9.5 EFEMP1 PROM1 PRPF8 PRPH2 RS1 TIMP3
3 vision/eye MP:0005391 9.44 TIMP3 UNC119 AIPL1 EFEMP1 GUCA1A GUCA1B

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:

39
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:

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.33 GUCA1A PROM1 PRPH2
2 photoreceptor inner segment GO:0001917 9.13 AIPL1 GUCA1A GUCA1B
3 photoreceptor disc membrane GO:0097381 8.8 GUCA1A GUCA1B GUCY2D

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.61 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 retina layer formation GO:0010842 9.43 PROM1 RS1
5 positive regulation of guanylate cyclase activity GO:0031284 9.43 GUCA1A GUCA1B RCVRN
6 receptor guanylyl cyclase signaling pathway GO:0007168 9.4 GUCA1B GUCY2D
7 visual perception GO:0007601 9.4 AIPL1 EFEMP1 GUCA1A GUCA1B GUCY2D PITPNA
8 regulation of guanylate cyclase activity GO:0031282 9.37 GUCA1A GUCA1B

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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