MCID: HRD019
MIFTS: 25

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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:9794
ICD10 33 H31.2 H31.20
ICD9CM 35 363.5 363.50
UMLS 73 C0154893

Summaries for Hereditary Choroidal Atrophy

MalaCards based summary : Hereditary Choroidal Atrophy, also known as hereditary choroidal dystrophy, is related to stargardt macular degeneration and cone-rod dystrophy 6. 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 Wnt / Hedgehog / Notch. Affiliated tissues include eye, and related phenotypes are behavior/neurological and nervous system

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 behavior/neurological MP:0005386 9.96 GUCY2D PAFAH1B1 PITPNA PLIN2 PROM1 RIMS1
2 nervous system MP:0003631 9.85 GUCY2D PAFAH1B1 PITPNA PROM1 PRPH2 RIMS1
3 vision/eye MP:0005391 9.36 PLIN2 PROM1 PRPH2 RCVRN AIPL1 TIMP3
4 pigmentation MP:0001186 9.35 PROM1 PRPH2 TIMP3 EFEMP1 UNC119

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

Publications for Hereditary Choroidal Atrophy

Articles related to Hereditary Choroidal Atrophy:

# Title Authors Year
1
Fluorescein angiography of the hereditary choroidal dystrophies. ( 836777 )
1977

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 inner segment GO:0001917 9.13 AIPL1 GUCA1A GUCA1B
2 photoreceptor disc membrane GO:0097381 8.8 GUCA1A GUCA1B GUCY2D

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 9.56 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 Hereditary Choroidal Atrophy 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 Hereditary Choroidal Atrophy

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
Content
Loading form....