MCID: PRT032
MIFTS: 27

Partial Central Choroid Dystrophy

Categories: Rare diseases, Eye diseases, Neuronal 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 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
UMLS via Orphanet 70 C1536451
ICD10 via Orphanet 34 H31.2
UMLS 69 C0339427

Summaries for Partial Central Choroid Dystrophy

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 75377disease definitioncentral areolar choroidal dystrophy (cacd) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.visit the orphanet disease page for more resources. last updated: 2/29/2012

MalaCards based summary : Partial Central Choroid Dystrophy, also known as choroidal dystrophy central areolar, is related to choroidal dystrophy, central areolar 2 and aloxe3-related autosomal recessive congenital ichthyosis. An important gene associated with Partial Central Choroid Dystrophy is GUCY2D (Guanylate Cyclase 2D, Retinal), 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 26)
id Related Disease Score Top Affiliating Genes
1 choroidal dystrophy, central areolar 2 12.5
2 aloxe3-related autosomal recessive congenital ichthyosis 10.6 AIPL1 GUCY2D
3 actin-accumulation myopathy 10.5 PRPH2 RIMS1
4 rpgrip1l-related meckel syndrome 10.5 AIPL1 GUCY2D
5 orofaciodigital syndrome xv 10.5 GUCA1A GUCY2D
6 cone-rod dystrophy 6 10.5 GUCA1A GUCA1B GUCY2D
7 hypersensitivity vasculitis 10.4 GUCA1A GUCY2D
8 myopathy, centronuclear, autosomal recessive 10.4 EFEMP1 TIMP3
9 ichthyosis, congenital, autosomal recessive 2 10.3 AIPL1 GUCY2D UNC119
10 blessig's cysts 10.3 PRPH2 TIMP3
11 ciliary dyskinesia, primary, 9, with or without situs inversus 10.2 GUCY2D PROM1 PRPH2
12 hereditary breast ovarian cancer 10.1 AIPL1 GUCA1A GUCY2D PRPH2
13 whipple disease 10.1 AIPL1 GUCA1A GUCY2D PRPH2
14 osteopoikilosis and dacryocystitis 10.1 PROM1 PRPH2
15 choroiditis 10.1
16 choroidal sclerosis 10.1
17 tendinitis 10.1 PROM1 PRPH2 RIMS1
18 leber congenital amaurosis 9 10.0 AIPL1 GUCY2D
19 diffuse secondary choroid atrophy 9.9 GUCA1A GUCA1B GUCY2D RIMS1 TAP1
20 limbal stem cell deficiency 9.9 AIPL1 GUCA1A GUCA1B GUCY2D PRPH2
21 macular degeneration, age-related, 1 9.4 EFEMP1 PRPH2 RING1 TIMP3
22 ichthyosis with confetti 9.1 AIPL1 GUCA1A GUCY2D PROM1 PRPH2 RIMS1
23 impetigo 8.6 AIPL1 EFEMP1 GUCA1A GUCA1B GUCY2D PROM1
24 scar contracture 7.6 AIPL1 GUCA1A GUCA1B GUCY2D PLIN2 PROM1
25 tuberculous peritonitis 4.8 AIPL1 ARRB2 EFEMP1 GUCA1A GUCA1B GUCY2D
26 hypertropia 4.7 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ARRB2 EFEMP1 PAFAH1B1 PITPNA PLIN2 PROM1
2 nervous system MP:0003631 9.85 PROM1 PRPH2 RIMS1 TAP1 AIPL1 ARRB2
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:

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 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:

id 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:

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

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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