MCID: HRD019
MIFTS: 24

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 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:9794
ICD9CM 34 363.5 363.50
SNOMED-CT 67 74469006
ICD10 32 H31.2 H31.20
UMLS 71 C0154893

Summaries for Hereditary Choroidal Atrophy

MalaCards based summary : Hereditary Choroidal Atrophy, also known as hereditary choroidal dystrophy, is related to gyrate atrophy of choroid and retina and choroidal dystrophy, central areolar, 1. 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 phenotypes are nervous system and vision/eye

Related Diseases for Hereditary Choroidal Atrophy

Diseases related to Hereditary Choroidal Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 gyrate atrophy of choroid and retina 30.1 PRPH2 ABCA4
2 choroidal dystrophy, central areolar, 1 25.7 TAP1 ROM1 RIMS1 RDH5 PRPH2 PITPNA
3 choroideremia 10.8
4 sveinsson chorioretinal atrophy 10.3
5 basal laminar drusen 10.3 PRPH2 ABCA4
6 occult macular dystrophy 10.3 GUCY2D ABCA4
7 leber congenital amaurosis 4 10.3 PRPH2 GUCY2D
8 bestrophinopathy, autosomal recessive 10.3 PRPH2 ABCA4
9 yemenite deaf-blind hypopigmentation syndrome 10.2 GUCY2D ABCA4
10 hereditary retinal dystrophy 10.2 GUCY2D ABCA4
11 doyne honeycomb retinal dystrophy 10.2 PRPH2 ABCA4
12 toxic maculopathy 10.2 TAP1 ABCA4
13 pattern dystrophy 10.2 ROM1 PRPH2
14 butterfly-shaped pigment dystrophy 10.2 ROM1 PRPH2
15 retinitis pigmentosa 25 10.2 PRPH2 CDHR1
16 cone-rod dystrophy 5 10.1 RIMS1 GUCY2D
17 choroid disease 10.1 PRPH2 GUCY2D ABCA4
18 scotoma 10.1 PRPH2 GUCY2D ABCA4
19 bardet-biedl syndrome 4 10.1 GUCA1B GUCA1A
20 stargardt disease 1 10.1 ROM1 ABCA4
21 leber congenital amaurosis 12 10.0 GUCY2D GUCA1B GUCA1A
22 stargardt macular degeneration 10.0 RIMS1 PRPH2 ABCA4
23 color blindness 10.0 GUCY2D ABCA4
24 peripheral retinal degeneration 10.0 ROM1 PRPH2 ABCA4
25 retinitis pigmentosa 1 9.9 ROM1 PRPH2
26 newfoundland rod-cone dystrophy 9.9 RDH5 PRPH2
27 cone-rod dystrophy 3 9.9 RIMS1 GUCY2D ABCA4
28 vitelliform macular dystrophy 9.9 ROM1 PRPH2 ABCA4
29 bothnia retinal dystrophy 9.9 RDH5 PRPH2
30 cone-rod dystrophy 12 9.9 RIMS1 GUCY2D GUCA1A
31 eye degenerative disease 9.9 PRPH2 GUCY2D CCDC126 ABCA4
32 achromatopsia 9.9 PRPH2 GUCY2D GUCA1A ABCA4
33 leber congenital amaurosis 1 9.8 PRPH2 GUCY2D GUCA1B GUCA1A
34 degeneration of macula and posterior pole 9.8 PRPH2 ABCA4
35 inherited retinal disorder 9.8 PRPH2 GUCY2D CDHR1 ABCA4
36 leber congenital amaurosis 2 9.8 RDH5 GUCY2D
37 usher syndrome 9.8 PRPH2 GUCA1A ABCA4
38 bardet-biedl syndrome 9.7 ROM1 PRPH2 GUCY2D ABCA4
39 prolonged electroretinal response suppression 9.7 RDH5 GUCA1A
40 retinitis pigmentosa 7 9.7 ROM1 PRPH2 GUCA1B GUCA1A
41 night blindness 9.5 RDH5 PRPH2 GUCY2D ABCA4
42 eye disease 9.5 ROM1 PRPH2 GUCY2D GUCA1A ABCA4
43 macular degeneration, age-related, 1 9.5 RDH5 PRPH2 GUCY2D ABCA4
44 fundus albipunctatus 9.3 ROM1 RDH5 PRPH2 ABCA4
45 cone dystrophy 9.3 RDH5 PRPH2 GUCY2D GUCA1A ABCA4
46 cone-rod dystrophy 6 9.0 RDH5 PRPH2 GUCY2D GUCA1B GUCA1A ABCA4
47 stargardt disease 8.9 ROM1 RDH5 PRPH2 GUCY2D GUCA1A ABCA4
48 cone-rod dystrophy 2 8.5 ROM1 RIMS1 PRPH2 GUCY2D GUCA1A CDHR1
49 retinal degeneration 8.2 ROM1 RDH5 PRPH2 GUCY2D GUCA1B GUCA1A
50 congenital stationary night blindness 8.2 ROM1 RIMS1 RDH5 PRPH2 GUCY2D GUCA1B

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 ABCA4 GUCA1A GUCY2D PITPNA PRPH2 RIMS1
2 vision/eye MP:0005391 9.23 ABCA4 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:

40
Eye, Retina

Publications for Hereditary Choroidal Atrophy

Articles related to Hereditary Choroidal Atrophy:

# Title Authors PMID Year
1
X-linked Choroideremia. 61
30578482 2018
2
Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab. 61
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 membrane GO:0016020 10 TAP1 ROM1 RIMS1 RDH5 PRPH2 GUCY2D
2 integral component of plasma membrane GO:0005887 9.72 ROM1 PRPH2 GUCY2D CDHR1 ABCA4
3 photoreceptor outer segment membrane GO:0042622 9.16 ROM1 CDHR1
4 photoreceptor outer segment GO:0001750 9.13 PRPH2 GUCY2D ABCA4
5 photoreceptor disc membrane GO:0097381 8.92 GUCY2D GUCA1B GUCA1A ABCA4

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 9.43 RIMS1 RDH5 GUCY2D GUCA1B GUCA1A ABCA4
2 photoreceptor cell maintenance GO:0045494 9.37 CDHR1 ABCA4
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.33 GUCY2D GUCA1B GUCA1A
4 positive regulation of guanylate cyclase activity GO:0031284 9.32 GUCA1B GUCA1A
5 visual perception GO:0007601 9.28 ROM1 RIMS1 RDH5 PRPH2 PITPNA GUCY2D
6 receptor guanylyl cyclase signaling pathway GO:0007168 9.26 GUCY2D GUCA1B

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.16 TAP1 ABCA4
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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