MCID: HRD019
MIFTS: 25

Hereditary Choroidal Atrophy

Categories: Neuronal diseases, Eye diseases

Aliases & Classifications for Hereditary Choroidal Atrophy

MalaCards integrated aliases for Hereditary Choroidal Atrophy:

Name: Hereditary Choroidal Atrophy 12 14
Hereditary Choroidal Dystrophy 69

Classifications:



External Ids:

Disease Ontology 12 DOID:9794
ICD10 33 H31.2 H31.20
ICD9CM 35 363.5 363.50
UMLS 69 C0154893

Summaries for Hereditary Choroidal Atrophy

MalaCards based summary : Hereditary Choroidal Atrophy, also known as hereditary choroidal dystrophy, is related to aloxe3-related autosomal recessive congenital ichthyosis and cone-rod dystrophy 6. An important gene associated with Hereditary Choroidal Atrophy is GUCA1A (Guanylate Cyclase Activator 1A), 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

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

(show all 23)
id Related Disease Score Top Affiliating Genes
1 aloxe3-related autosomal recessive congenital ichthyosis 10.6 AIPL1 GUCY2D
2 cone-rod dystrophy 6 10.5 GUCA1A GUCA1B GUCY2D
3 orofaciodigital syndrome xv 10.5 GUCA1A GUCY2D
4 rpgrip1l-related meckel syndrome 10.5 AIPL1 GUCY2D
5 hypersensitivity vasculitis 10.4 GUCA1A GUCY2D
6 myopathy, centronuclear, autosomal recessive 10.4 EFEMP1 TIMP3
7 ichthyosis, congenital, autosomal recessive 2 10.4 AIPL1 GUCY2D UNC119
8 actin-accumulation myopathy 10.3 PRPH2 RIMS1
9 leber congenital amaurosis 9 10.0 AIPL1 GUCY2D
10 diffuse secondary choroid atrophy 10.0 GUCA1A GUCA1B GUCY2D RIMS1 TAP1
11 blessig's cysts 10.0 PRPH2 TIMP3
12 ciliary dyskinesia, primary, 9, with or without situs inversus 9.9 GUCY2D PROM1 PRPH2
13 hereditary breast ovarian cancer 9.9 AIPL1 GUCA1A GUCY2D PRPH2
14 osteopoikilosis and dacryocystitis 9.9 PROM1 PRPH2
15 tendinitis 9.9 PROM1 PRPH2 RIMS1
16 whipple disease 9.9 AIPL1 GUCA1A GUCY2D PRPH2
17 limbal stem cell deficiency 9.7 AIPL1 GUCA1A GUCA1B GUCY2D PRPH2
18 macular degeneration, age-related, 1 9.1 EFEMP1 PRPH2 RING1 TIMP3
19 ichthyosis with confetti 8.9 AIPL1 GUCA1A GUCY2D PROM1 PRPH2 RIMS1
20 impetigo 8.4 AIPL1 EFEMP1 GUCA1A GUCA1B GUCY2D PROM1
21 scar contracture 7.5 AIPL1 GUCA1A GUCA1B GUCY2D PLIN2 PROM1
22 tuberculous peritonitis 4.8 AIPL1 ARRB2 EFEMP1 GUCA1A GUCA1B GUCY2D
23 hypertropia 4.7 AIPL1 ARRB2 EFEMP1 GUCA1A GUCA1B GUCY2D

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ARRB2 EFEMP1 PAFAH1B1 PITPNA PLIN2 PROM1
2 nervous system MP:0003631 9.85 AIPL1 ARRB2 GUCA1A GUCY2D PAFAH1B1 PITPNA
3 vision/eye MP:0005391 9.36 PROM1 PRPH2 RCVRN TIMP3 UNC119 AIPL1
4 pigmentation MP:0001186 9.35 EFEMP1 PROM1 PRPH2 TIMP3 UNC119

Drugs & Therapeutics for Hereditary Choroidal Atrophy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

39
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:

id 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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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