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 74

Classifications:



External Ids:

Disease Ontology 12 DOID:9794
ICD9CM 36 363.5 363.50
SNOMED-CT 69 74469006
ICD10 34 H31.2 H31.20
UMLS 74 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 peripheral retinal degeneration. 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 no effect and behavior/neurological

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

GenomeRNAi Phenotypes related to Hereditary Choroidal Atrophy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.88 AIPL1 ARRB2 CYP4V2 EFEMP1 GUCA1A GUCA1B

MGI Mouse Phenotypes related to Hereditary Choroidal Atrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ARRB2 EFEMP1 GUCY2D PAFAH1B1 PITPNA PLIN2
2 nervous system MP:0003631 9.85 AIPL1 ARRB2 GUCA1A GUCY2D PAFAH1B1 PITPNA
3 vision/eye MP:0005391 9.4 AIPL1 CYP4V2 EFEMP1 GUCA1A GUCA1B GUCY2D
4 pigmentation MP:0001186 9.35 EFEMP1 PROM1 PRPH2 TIMP3 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:

42
Eye

Publications for Hereditary Choroidal Atrophy

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 9.61 AIPL1 CYP4V2 GUCA1A GUCA1B GUCY2D RCVRN
2 phototransduction GO:0007602 9.56 GUCA1A GUCA1B RCVRN UNC119
3 positive regulation of guanylate cyclase activity GO:0031284 9.5 GUCA1A GUCA1B RCVRN
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 AIPL1 GUCA1A GUCA1B GUCY2D
5 receptor guanylyl cyclase signaling pathway GO:0007168 9.4 GUCA1B GUCY2D
6 visual perception GO:0007601 9.4 AIPL1 CYP4V2 EFEMP1 GUCA1A GUCA1B GUCY2D
7 regulation of guanylate cyclase activity GO:0031282 9.37 GUCA1A GUCA1B

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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