MCID: CHR079
MIFTS: 37

Choroid Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Choroid Disease

MalaCards integrated aliases for Choroid Disease:

Name: Choroid Disease 12 15
Choroid Diseases 44 70
Abnormality of the Choroid 6

Classifications:



External Ids:

Disease Ontology 12 DOID:1417
ICD9CM 34 363.9
MeSH 44 D015862
NCIt 50 C34468
SNOMED-CT 67 193480005
ICD10 32 H31 H31.8 H31.9
UMLS 70 C0008521

Summaries for Choroid Disease

MalaCards based summary : Choroid Disease, also known as choroid diseases, is related to chorioretinitis and choroiditis. An important gene associated with Choroid Disease is OAT (Ornithine Aminotransferase), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Alfuzosin and Tamsulosin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 The choroid, also known as the choroidea or choroid coat, is the vascular layer of the eye, containing... more...

Related Diseases for Choroid Disease

Diseases related to Choroid Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 chorioretinitis 29.9 RBP3 ABCA4
2 choroiditis 29.9 RBP3 ABCA4
3 yemenite deaf-blind hypopigmentation syndrome 29.3 USH2A RPE65 RHO GUCY2D CEP290 ABCA4
4 retinal disease 27.8 USH2A RS1 RPGR RPE65 RHO RBP3
5 stargardt macular degeneration 10.4 PRPH2 ABCA4
6 solar retinopathy 10.3 RHO ABCA4
7 leber congenital amaurosis 12 10.3 RPE65 GUCY2D
8 pattern dystrophy 10.3 RHO PRPH2
9 optic disk drusen 10.3 RPGR RHO
10 interval angle-closure glaucoma 10.3 BEST1 ABCA4
11 macular degeneration, age-related, 6 10.3 BEST1 ABCA4
12 retinitis pigmentosa 19 10.3 RPGR ABCA4
13 leber congenital amaurosis 8 10.3 RPE65 GUCY2D
14 cone-rod dystrophy 3 10.3 GUCY2D BLOC1S1 ABCA4
15 macular degeneration, age-related, 4 10.3 BEST1 ABCA4
16 cone-rod dystrophy 9 10.3 GUCY2D CNGB3
17 partial central choroid dystrophy 10.3 PRPH2 GUCY2D ABCA4
18 hereditary choroidal atrophy 10.3 PRPH2 GUCY2D ABCA4
19 retinal perforation 10.3 RS1 RPE65
20 leber congenital amaurosis / early-onset severe retinal dystrophy 10.3 RPE65 CEP290
21 aland island eye disease 10.3 RPE65 GUCY2D ABCA4
22 oligocone trichromacy 10.3 CNGB3 CNGA3
23 basal laminar drusen 10.3 BEST1 ABCA4
24 pigmented paravenous chorioretinal atrophy 10.3 GUCY2D ABCA4
25 retinal ciliopathy 10.2 RPGR CEP290
26 retinitis pigmentosa 20 10.2 RPGR RPE65
27 achromatopsia 7 10.2 CNGB3 CNGA3
28 isolated macular dystrophy 10.2 PRPH2 BEST1 ABCA4
29 retinitis pigmentosa 44 10.2 CNGB3 CNGA3
30 doyne honeycomb retinal dystrophy 10.2 PRPH2 BEST1 ABCA4
31 macular holes 10.2 RS1 RPE65 RBP3
32 achromatopsia 2 10.2 CNGB3 CNGA3
33 chorioretinal scar 10.2 RHO BEST1 ABCA4
34 tritanopia 10.2 CNGB3 CNGA3
35 vitreous disease 10.2 RPE65 RHO BEST1
36 joubert syndrome 9 10.2 RPE65 CEP290
37 nonsyndromic retinitis pigmentosa 10.2 USH2A BEST1 ABCA4
38 pseudopapilledema 10.2 RPE65 GUCY2D CEP290
39 cone-rod dystrophy 8 10.2 GUCY2D CNGB3 CNGA3
40 leber congenital amaurosis 9 10.2 RPE65 GUCY2D CEP290
41 leber congenital amaurosis 3 10.2 RPE65 GUCY2D CEP290
42 leber congenital amaurosis 4 10.2 RPE65 GUCY2D CEP290
43 achromatopsia 3 10.1 GUCY2D CNGB3 CNGA3
44 vitreoretinochoroidopathy 10.1 RPE65 PRPH2 BEST1 ABCA4
45 bestrophinopathy, autosomal recessive 10.1 RPE65 PRPH2 BEST1 ABCA4
46 colorblindness, partial, protan series 10.1 RHO CNGB3 CNGA3
47 macular dystrophy, vitelliform, 2 10.1 PRPH2 BEST1
48 prolonged electroretinal response suppression 10.1 RHO CNGB3 CNGA3
49 bietti crystalline corneoretinal dystrophy 10.1 RPGR RPE65 CYP4V2 CHML ABCA4
50 optic nerve hypoplasia, bilateral 10.1 RPE65 RHO BEST1 ABCA4

Graphical network of the top 20 diseases related to Choroid Disease:



Diseases related to Choroid Disease

Symptoms & Phenotypes for Choroid Disease

GenomeRNAi Phenotypes related to Choroid Disease according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.02 GUCY2D
2 Decreased viability GR00055-A-2 10.02 GUCY2D
3 Decreased viability GR00221-A-1 10.02 GUCY2D
4 Decreased viability GR00221-A-2 10.02 GUCY2D
5 Decreased viability GR00221-A-3 10.02 GUCY2D
6 Decreased viability GR00221-A-4 10.02 GUCY2D
7 Decreased viability GR00240-S-1 10.02 CHML GUCY2D
8 Decreased viability GR00249-S 10.02 CYP4V2 GUCY2D PRPH2 RBP3
9 Decreased viability GR00381-A-1 10.02 OAT
10 Decreased viability GR00386-A-1 10.02 BLOC1S1 CHML GUCY2D PRPH2
11 Decreased viability GR00402-S-2 10.02 BEST1 CHML CYP4V2 GUCY2D PRPH2 RHO
12 Increased the percentage of infected cells GR00402-S-1 8.32 CYP4V2

MGI Mouse Phenotypes related to Choroid Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 CEP290 CHM CNGA3 CNGB3 GUCY2D
2 pigmentation MP:0001186 9.73 ABCA4 BEST1 BLOC1S1 CEP290 CHM OAT
3 vision/eye MP:0005391 9.58 ABCA4 BEST1 BLOC1S1 CEP290 CHM CNGA3

Drugs & Therapeutics for Choroid Disease

Drugs for Choroid Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
2
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
3 Adrenergic alpha-Antagonists Phase 4
4 Adrenergic Antagonists Phase 4
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic Agents Phase 4
7 Neurotransmitter Agents Phase 4
8
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
9 Anti-Infective Agents Phase 2
10 Hormone Antagonists Phase 2
11 glucocorticoids Phase 2
12 Hormones Phase 2
13 Antineoplastic Agents, Hormonal Phase 2
14 Antiviral Agents Phase 2
15 Immunologic Factors Phase 2
16 Interferon alpha-2 Phase 2
17 interferons Phase 2
18 Interferon-alpha Phase 2
19 Anti-Inflammatory Agents Phase 2
20
Fluconazole Approved, Investigational 86386-73-4 3365
21
Bevacizumab Approved, Investigational 216974-75-3
22
Prednisolone Approved, Vet_approved 50-24-8 5755
23
Methylprednisolone Approved, Vet_approved 83-43-2 6741
24
Prednisolone phosphate Approved, Vet_approved 302-25-0
25
Methylprednisolone hemisuccinate Approved 2921-57-5
26
Prednisolone acetate Approved, Vet_approved 52-21-1
27
Verteporfin Approved, Investigational 129497-78-5
28
Iodine Approved, Investigational 7553-56-2 807
29
Prednisolone hemisuccinate Experimental 2920-86-7
30
Cadexomer iodine Experimental 94820-09-4
31 Protective Agents
32 Fluorides
33 Tin Fluorides
34 Angiogenesis Inhibitors
35 Mitogens
36 Antineoplastic Agents, Immunological
37 Endothelial Growth Factors
38 Methylprednisolone Acetate
39 Photosensitizing Agents
40 Dermatologic Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 The Effects of Systemic Alfuzosin and Tamsulosin Hydrochloride on Choroidal Thickness and Pupil Diameter Sizes in Cases With Benign Prostatic Hyperplasia Completed NCT03144596 Phase 4 Alfuzosin Hydrochloride 10 MG;Tamsulosin Hydrochloride 0.4 MG
2 A Prospective Non-inferiority Study of the Use of Micropulse 577nm Laser vs Traditional Laser Treatment in Central Serous Chorioretinopathy Completed NCT02735213 Phase 2, Phase 3
3 Evaluation of Birdshot RETINE CHOROIDOPATHY Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2 interferon alpha 2a;prednisone
4 Study of Changes in Retrofoveolar Choroidal Thickness Measured by Optical Coherence Tomography During Aerobic Exercise Inducing an Increase in Systolic Blood Pressure in Healthy Subjects Unknown status NCT03532867
5 A Prospective Study to Evaluate Swept-Source OCT and Adaptive Optics Imaging of Diseases of the Vitreous, Retina and Choroid Completed NCT02828215
6 Long-term Outcome of Punctate Inner Choroidopathy or Multifocal Choroiditis With Active Choroidal Neovascularization Managed With Anti-vascular Endothelial Growth Factor Completed NCT03897192 Bevacizumab
7 Long-term Outcome of Punctate Inner Choroidopathy or Multifocal Choroiditis With Active Choroidal Neovascularization Managed With Anti-vascular Endothelial Growth Factor Completed NCT03793400 Bevacizumab Injection
8 Tracking Optical Coherence Tomography Completed NCT00343603
9 Multimodal Analysis and Electroretinogram in VKH From Acute Onset - a Prospective Study Completed NCT03811366 Meticorten
10 Polypoidal Choroidal Vasculopathy in Pachychoroid: Aflibercept + PDT Combined Therapy Completed NCT04075188 Aflibercept Injection
11 Changes of Macular Pigment Optical Density and Parameters After Nd: YAG Laser Posterior Capsulotomy in Cases With Posterior Capsule Opacification Completed NCT03321253
12 Evaluation of the Utility of OCT Angiography in Assessing Vascular Perfusion in Rare Retinal and Choroidal Diseases Recruiting NCT02141308
13 Punctate Inner Choroidopathy (PIC) and Its Role in Progression of Pathological Myopia Not yet recruiting NCT04561869
14 OCTA to Quantify the Parapapillary Choroidal Microvascular Changes in High Myopia Not yet recruiting NCT04255524
15 Optical Coherence Tomography of Retinal Abnormalities Associated With Choroidal Nevus, Choroidal Melanoma and Choroidal Melanoma Treated With Iodine-125 Brachytherapy Terminated NCT00346372

Search NIH Clinical Center for Choroid Disease

Cochrane evidence based reviews: choroid diseases

Genetic Tests for Choroid Disease

Anatomical Context for Choroid Disease

MalaCards organs/tissues related to Choroid Disease:

40
Eye, Retina, Endothelial

Publications for Choroid Disease

Articles related to Choroid Disease:

# Title Authors PMID Year
1
Nanotechnology-based strategies for treatment of ocular disease. 61
28540165 2017
2
Vascular endothelial growth factors in retinal and choroidal neovascular diseases. 61
21284527 2012
3
Local tumor control, visual acuity, and survival after hypofractionated stereotactic photon radiotherapy of choroidal melanoma in 212 patients treated between 1997 and 2007. 61
20675066 2011
4
[Ocular pharmacology in the treatment of vitreous, retina and choroid diseases]. 61
20730292 2010
5
Retinoblastoma patients with high risk ocular pathological features: who needs adjuvant therapy? 61
15258027 2004
6
[Experience in the differential diagnosis of peripapillary "geographic" choroid disease and tuberculous chorioretinitis]. 61
2075658 1990
7
[Changes of the rest potential in retina and choroid diseases]. 61
5354418 1969
8
[Various retinal & choroid diseases successfully treated with retrobulbar hydrocortisone and/or alpha-chymotrypsin]. 61
13658508 1959

Variations for Choroid Disease

ClinVar genetic disease variations for Choroid Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OAT NM_000274.3(OAT):c.875A>G (p.Lys292Arg) SNV Likely pathogenic 374146 rs1057518927 GRCh37: 10:126091521-126091521
GRCh38: 10:124402952-124402952

Expression for Choroid Disease

Search GEO for disease gene expression data for Choroid Disease.

Pathways for Choroid Disease

GO Terms for Choroid Disease

Cellular components related to Choroid Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 USH2A RS1 RPE65 RHO RAB27A PRPH2
2 cell projection GO:0042995 9.91 USH2A RPGR RHO PRPH2 GUCY2D CEP290
3 photoreceptor outer segment membrane GO:0042622 9.37 RHO GUCY2D
4 photoreceptor disc membrane GO:0097381 9.33 RHO GUCY2D ABCA4
5 Rab-protein geranylgeranyltransferase complex GO:0005968 9.32 CHML CHM
6 transmembrane transporter complex GO:1902495 9.26 CNGB3 CNGA3
7 photoreceptor inner segment GO:0001917 9.26 USH2A RS1 RHO PRPH2
8 photoreceptor outer segment GO:0001750 9.17 RPGR RHO RAB27A PRPH2 GUCY2D CNGB3

Biological processes related to Choroid Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.77 USH2A RS1 RPGR RPE65 RHO PRPH2
2 retina development in camera-type eye GO:0060041 9.58 RPE65 RHO PRPH2
3 retinoid metabolic process GO:0001523 9.55 RPE65 RHO RBP3 CYP4V2 ABCA4
4 photoreceptor cell maintenance GO:0045494 9.5 USH2A RHO ABCA4
5 visual perception GO:0007601 9.5 USH2A RS1 RPGR RPE65 RHO RBP3
6 sensory perception of light stimulus GO:0050953 9.46 USH2A RHO
7 phototransduction, visible light GO:0007603 9.43 RHO ABCA4
8 detection of light stimulus involved in visual perception GO:0050908 9.43 RPE65 PRPH2 BEST1
9 protein geranylgeranylation GO:0018344 9.37 CHML CHM

Molecular functions related to Choroid Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.26 CNGB3 CNGA3
2 GDP-dissociation inhibitor activity GO:0005092 9.16 CHML CHM
3 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
4 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Choroid Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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