MCID: HRD019
MIFTS: 22

Hereditary Choroidal Atrophy

Categories: Eye diseases

Aliases & Classifications for Hereditary Choroidal Atrophy

MalaCards integrated aliases for Hereditary Choroidal Atrophy:

Name: Hereditary Choroidal Atrophy 12 15
Hereditary Choroidal Dystrophy 72 33

Classifications:



External Ids:

Disease Ontology 12 DOID:9794
ICD9CM 35 363.5 363.50
SNOMED-CT 68 74469006
ICD10 33 H31.2 H31.20
UMLS 72 C0154893

Summaries for Hereditary Choroidal Atrophy

MalaCards based summary : Hereditary Choroidal Atrophy, also known as hereditary choroidal dystrophy, is related to choroidal dystrophy, central areolar, 1 and choroideremia. An important gene associated with Hereditary Choroidal Atrophy is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye and retina, and related phenotype is vision/eye.

Related Diseases for Hereditary Choroidal Atrophy

Graphical network of the top 20 diseases related to Hereditary Choroidal Atrophy:



Diseases related to Hereditary Choroidal Atrophy

Symptoms & Phenotypes for Hereditary Choroidal Atrophy

MGI Mouse Phenotypes related to Hereditary Choroidal Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CDHR1 GUCA1A GUCA1B GUCY2D PRPH2

Drugs & Therapeutics for Hereditary Choroidal Atrophy

Search Clinical Trials , NIH Clinical Center for Hereditary Choroidal Atrophy

Genetic Tests for Hereditary Choroidal Atrophy

Anatomical Context for Hereditary Choroidal Atrophy

MalaCards organs/tissues related to Hereditary Choroidal Atrophy:

41
Eye, Retina

Publications for Hereditary Choroidal Atrophy

Articles related to Hereditary Choroidal Atrophy:

# Title Authors PMID Year
1
X-linked Choroideremia. 38
30578482 2018
2
Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab. 38
25214760 2014

Variations for Hereditary Choroidal Atrophy

Expression for Hereditary Choroidal Atrophy

Search GEO for disease gene expression data for Hereditary Choroidal Atrophy.

Pathways for Hereditary Choroidal Atrophy

GO Terms for Hereditary Choroidal Atrophy

Cellular components related to Hereditary Choroidal Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.8 GUCY2D GUCA1B GUCA1A
2 photoreceptor inner segment GO:0001917 8.65 GUCA1B

Biological processes related to Hereditary Choroidal Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.58 GUCY2D GUCA1B GUCA1A
2 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 GUCY2D GUCA1B
3 positive regulation of guanylate cyclase activity GO:0031284 9.26 GUCA1B GUCA1A
4 visual perception GO:0007601 9.26 PRPH2 GUCY2D GUCA1B GUCA1A
5 phototransduction GO:0007602 9.07 GUCA1B
6 regulation of guanylate cyclase activity GO:0031282 8.85 GUCA1B
7 regulation of rhodopsin mediated signaling pathway GO:0022400 8.8 GUCY2D GUCA1B GUCA1A

Molecular functions related to Hereditary Choroidal Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.33 GUCA1B GUCA1A CDHR1
2 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 GUCA1B GUCA1A
3 guanylate cyclase regulator activity GO:0030249 8.62 GUCA1B GUCA1A

Sources for Hereditary Choroidal Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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