MCID: HRD019
MIFTS: 24

Hereditary Choroidal Atrophy

Categories: Eye diseases, Neuronal 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
SNOMED-CT 67 74469006
ICD10 32 H31.2
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 73)
# Related Disease Score Top Affiliating Genes
1 gyrate atrophy of choroid and retina 30.0 PRPH2 ABCA4
2 choroidal dystrophy, central areolar, 1 25.8 TAP1 ROM1 RIMS1 PRPH2 OR6C75 GUCY2D
3 choroideremia 10.8
4 sveinsson chorioretinal atrophy 10.3
5 retinitis pigmentosa 19 10.2 PRPH2 ABCA4
6 macular dystrophy, concentric annular 10.2 CRX ABCA4
7 vitreoretinochoroidopathy 10.2 PRPH2 ABCA4
8 bestrophinopathy, autosomal recessive 10.2 PRPH2 ABCA4
9 butterfly-shaped pigment dystrophy 10.2 ROM1 PRPH2
10 night blindness 10.2 PRPH2 GUCY2D ABCA4
11 macular dystrophy, dominant cystoid 10.1 PRPH2 ABCA4
12 occult macular dystrophy 10.1 PRPH2 GUCY2D ABCA4
13 pseudopapilledema 10.1 GUCY2D AIPL1
14 cone-rod dystrophy 8 10.1 GUCY2D AIPL1
15 doyne honeycomb retinal dystrophy 10.1 PRPH2 ABCA4
16 leber congenital amaurosis 16 10.1 GUCY2D AIPL1
17 stargardt disease 1 10.1 ROM1 ABCA4
18 leber congenital amaurosis 11 10.1 GUCY2D AIPL1
19 leber congenital amaurosis 6 10.1 GUCY2D AIPL1
20 scotoma 10.0 GUCY2D GUCA1A ABCA4
21 retinitis 10.0 ROM1 PRPH2 ABCA4
22 degeneration of macula and posterior pole 10.0 PRPH2 CRX ABCA4
23 peripheral retinal degeneration 10.0 ROM1 PRPH2 ABCA4
24 cone dystrophy 3 10.0 GUCA1B GUCA1A
25 pattern dystrophy 10.0 ROM1 PRPH2 CRX
26 vitelliform macular dystrophy 10.0 ROM1 PRPH2 ABCA4
27 pigmented paravenous chorioretinal atrophy 9.9 GUCY2D AIPL1 ABCA4
28 retinitis pigmentosa 1 9.9 ROM1 PRPH2 CRX
29 yemenite deaf-blind hypopigmentation syndrome 9.9 GUCY2D AIPL1 ABCA4
30 digenic disease 9.9 PRPH2 CRX
31 leber congenital amaurosis 7 9.9 GUCY2D CRX AIPL1
32 leber congenital amaurosis 8 9.9 GUCY2D CRX AIPL1
33 leber congenital amaurosis 9 9.9 GUCY2D CRX AIPL1
34 leber congenital amaurosis 10 9.9 GUCY2D CRX AIPL1
35 leber congenital amaurosis 3 9.9 GUCY2D CRX AIPL1
36 bardet-biedl syndrome 4 9.9 GUCA1B GUCA1A
37 leber congenital amaurosis 2 9.9 GUCY2D CRX AIPL1
38 hereditary retinal dystrophy 9.9 PRPH2 GUCY2D CRX ABCA4
39 choroid disease 9.8 PRPH2 GUCY2D AIPL1 ABCA4
40 macular degeneration, age-related, 1 9.7 PRPH2 GUCY2D CRX ABCA4
41 stargardt macular degeneration 9.7 RIMS1 PRPH2 ABCA4
42 enhanced s-cone syndrome 9.7 ROM1 CRX AIPL1
43 leber congenital amaurosis 4 9.7 PRPH2 GUCY2D CRX AIPL1
44 retinoschisis 1, x-linked, juvenile 9.7 CRX ABCA4
45 color blindness 9.7 GUCY2D CRX AIPL1 ABCA4
46 pathologic nystagmus 9.7 GUCY2D CRX AIPL1 ABCA4
47 keratoconus 9.6 GUCY2D CRX AIPL1
48 cone-rod dystrophy 17 9.6 RIMS1 GUCY2D AIPL1
49 fundus albipunctatus 9.5 ROM1 PRPH2 GUCY2D CRX ABCA4
50 retinitis pigmentosa 7 9.5 ROM1 PRPH2 GUCA1B GUCA1A

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 9.61 ABCA4 AIPL1 CRX GUCA1A GUCY2D PRPH2
2 vision/eye MP:0005391 9.23 ABCA4 AIPL1 CRX GUCA1A GUCA1B GUCY2D

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 cell projection GO:0042995 9.73 ROM1 RIMS1 PRPH2 GUCY2D GUCA1B GUCA1A
2 photoreceptor inner segment GO:0001917 9.33 PRPH2 GUCA1B AIPL1
3 photoreceptor outer segment membrane GO:0042622 9.32 ROM1 GUCY2D
4 photoreceptor disc membrane GO:0097381 9.26 GUCY2D GUCA1B GUCA1A ABCA4
5 photoreceptor outer segment GO:0001750 9.1 ROM1 PRPH2 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 9.65 ROM1 RIMS1 PRPH2 OR6C75 GUCY2D GUCA1B
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 GUCY2D GUCA1B GUCA1A AIPL1
3 positive regulation of guanylate cyclase activity GO:0031284 9.37 GUCA1B GUCA1A
4 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 GUCY2D GUCA1B
5 visual perception GO:0007601 9.28 ROM1 RIMS1 PRPH2 GUCY2D GUCA1B GUCA1A
6 phototransduction, visible light GO:0007603 9.26 AIPL1 ABCA4

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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