MCID: DGN003
MIFTS: 29

Degeneration of Macula and Posterior Pole

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Degeneration of Macula and Posterior Pole

MalaCards integrated aliases for Degeneration of Macula and Posterior Pole:

Name: Degeneration of Macula and Posterior Pole 12 15 32
Degeneration of Macula and Posterior Pole of Retina 12
Degeneration of Macula or Posterior Pole 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2007
ICD9CM 34 362.5
SNOMED-CT 67 193384000
ICD10 32 H35.3
UMLS 70 C0339436

Summaries for Degeneration of Macula and Posterior Pole

MalaCards based summary : Degeneration of Macula and Posterior Pole, also known as degeneration of macula and posterior pole of retina, is related to toxic maculopathy and de novo thrombotic microangiopathy after kidney transplantation. An important gene associated with Degeneration of Macula and Posterior Pole is CFHR2 (Complement Factor H Related 2), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Immune response Lectin induced complement pathway. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are pigmentation and vision/eye

Related Diseases for Degeneration of Macula and Posterior Pole

Diseases related to Degeneration of Macula and Posterior Pole via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 toxic maculopathy 10.5 ARMS2 ABCA4
2 de novo thrombotic microangiopathy after kidney transplantation 10.5 CFI CFH
3 stargardt macular degeneration 10.5 ELOVL4 ABCA4
4 bullous retinoschisis 10.5 VEGFA CFH ARMS2
5 patterned macular dystrophy 10.5 VEGFA RHO
6 relapsing fever 10.5 CFHR2 CFH C3
7 cone-rod dystrophy 3 10.5 ERCC6 CRYAA ABCA4
8 central serous chorioretinopathy 10.5 CFH ARMS2
9 degenerative myopia 10.5 VEGFA CFH ARMS2
10 interval angle-closure glaucoma 10.5 BEST1 ABCA4
11 complement component 3 deficiency 10.5 CFHR2 CFH C3
12 solar retinopathy 10.5 RLBP1 RHO ABCA4
13 red-green color blindness 10.5 RPE65 RHO ABCA4
14 myopic macular degeneration 10.5
15 toxic maculopathy due to antimalarial drugs 10.5
16 skeletal tuberculosis 10.5 CFHR2 CFHR1
17 enterocolitis 10.5 CFH CFB C3
18 complement factor b deficiency 10.5 CFB C2
19 leber congenital amaurosis 2 10.5 RPE65 RHO CRYAA
20 tick-borne relapsing fever 10.5 HTRA1 CFHR2 C3
21 histoplasmosis 10.5 CFH C3 ARMS2
22 angioid streaks 10.5 VEGFA CFHR2 CFH ARMS2
23 stargardt disease 3 10.5 ELOVL4 ABCA4
24 neovascular glaucoma 10.5 VEGFA PGF CRYAA
25 cancer-associated retinopathy 10.5 VEGFA RHO PGF
26 cardiomyopathy, dilated, 1l 10.5 HTRA1 ERCC6 CFH
27 familial drusen 10.5 CFI CFH
28 dense deposit disease 10.5 CFHR2 CFH CFB C3
29 endophthalmitis 10.5 VEGFA PGF CRYAA
30 louse-borne relapsing fever 10.5 CFH C3
31 nonsyndromic retinitis pigmentosa 10.5 BEST1 ABCA4
32 retinal vascular occlusion 10.5 VEGFA PGF CRYAA
33 complement factor h deficiency 10.5 CFI CFHR1 CFH
34 autoimmune uveitis 10.5 RPE65 RLBP1 CRYAA
35 pattern dystrophy 10.5 RHO HTRA1
36 color blindness 10.5 RPE65 RHO CRYAA ABCA4
37 ocular hyperemia 10.5 RPE65 ARMS2
38 retinal artery occlusion 10.5 VEGFA PGF CRYAA
39 scotoma 10.5 VEGFA RPE65 RHO ABCA4
40 chorioretinal scar 10.5 VEGFA RHO BEST1 ABCA4
41 macular holes 10.5 VEGFA RPE65 RLBP1 CRYAA
42 immune-complex glomerulonephritis 10.5 CFI CFHR2 C3
43 membranoproliferative glomerulonephritis 10.5 CFHR2 CFH CFB C3
44 ocular hypertension 10.5 RLBP1 RHO CRYAA
45 exudative glomerulonephritis 10.5 CFHR3 CFHR2 CFHR1 CFH
46 multifocal choroiditis 10.5 HTRA1 CFH CFB ARMS2
47 blood group, globoside system 10.5 VEGFA RPE65 PGF CRYAA
48 glaucoma, primary open angle 10.5 VEGFA RHO CRYAA ABCA4
49 vitreoretinopathy, neovascular inflammatory 10.5 VEGFA RPE65 RLBP1 CRYAA
50 peripheral retinal degeneration 10.5 RLBP1 RHO BEST1 ABCA4

Graphical network of the top 20 diseases related to Degeneration of Macula and Posterior Pole:



Diseases related to Degeneration of Macula and Posterior Pole

Symptoms & Phenotypes for Degeneration of Macula and Posterior Pole

MGI Mouse Phenotypes related to Degeneration of Macula and Posterior Pole:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.5 ABCA4 BEST1 CFH ELOVL4 RHO RLBP1
2 vision/eye MP:0005391 9.4 ABCA4 BEST1 C3 CFH ELOVL4 ERCC6

Drugs & Therapeutics for Degeneration of Macula and Posterior Pole

Drugs for Degeneration of Macula and Posterior Pole (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4

Search NIH Clinical Center for Degeneration of Macula and Posterior Pole

Genetic Tests for Degeneration of Macula and Posterior Pole

Anatomical Context for Degeneration of Macula and Posterior Pole

MalaCards organs/tissues related to Degeneration of Macula and Posterior Pole:

40
Eye, Retina

Publications for Degeneration of Macula and Posterior Pole

Variations for Degeneration of Macula and Posterior Pole

Expression for Degeneration of Macula and Posterior Pole

Search GEO for disease gene expression data for Degeneration of Macula and Posterior Pole.

Pathways for Degeneration of Macula and Posterior Pole

Pathways related to Degeneration of Macula and Posterior Pole according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 RPE65 RLBP1 RHO ABCA4
2
Show member pathways
11.83 CFI CFHR3 CFH CFB C3 C2
3 11.64 CFI CFH CFB C3 C2
4 11.61 RPE65 RLBP1 RHO
5
Show member pathways
11.59 CFI CFHR3 CFH CFB C3 C2
6
Show member pathways
11.49 CFB C3 C2
7 11.39 CFI CFHR3 CFHR2 CFHR1 CFH CFB
8
Show member pathways
11.36 RPE65 RLBP1 RHO ABCA4
9
Show member pathways
10.64 VEGFA PGF

GO Terms for Degeneration of Macula and Posterior Pole

Cellular components related to Degeneration of Macula and Posterior Pole according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 VEGFA PGF HTRA1 CFI CFHR3 CFHR2
2 extracellular space GO:0005615 9.65 VEGFA PGF HTRA1 CFI CFHR3 CFHR1
3 blood microparticle GO:0072562 9.02 CFHR3 CFHR1 CFH CFB C3

Biological processes related to Degeneration of Macula and Posterior Pole according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.95 CFI CFH CFB C3 C2
2 response to stimulus GO:0050896 9.85 RPE65 RLBP1 RHO CRYAA BEST1 ABCA4
3 photoreceptor cell maintenance GO:0045494 9.58 RHO ERCC6 ABCA4
4 retinoid metabolic process GO:0001523 9.56 RPE65 RLBP1 RHO ABCA4
5 complement activation GO:0006956 9.55 CFHR1 CFH CFB C3 C2
6 vascular endothelial growth factor signaling pathway GO:0038084 9.54 VEGFA PGF
7 induction of positive chemotaxis GO:0050930 9.52 VEGFA PGF
8 cytolysis by host of symbiont cells GO:0051838 9.51 CFHR2 CFHR1
9 complement activation, alternative pathway GO:0006957 9.5 CFH CFB C3
10 phototransduction, visible light GO:0007603 9.49 RHO ABCA4
11 vitamin A metabolic process GO:0006776 9.48 RPE65 RLBP1
12 positive regulation of apoptotic cell clearance GO:2000427 9.46 C3 C2
13 positive regulation of mast cell chemotaxis GO:0060754 9.43 VEGFA PGF
14 visual perception GO:0007601 9.43 RPE65 RLBP1 RHO CRYAA BEST1 ABCA4
15 regulation of complement activation GO:0030449 9.17 CFI CFHR2 CFHR1 CFH CFB C3

Molecular functions related to Degeneration of Macula and Posterior Pole according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled photoreceptor activity GO:0008020 9.32 RHO ELOVL4
2 11-cis retinal binding GO:0005502 9.26 RLBP1 RHO
3 serine-type endopeptidase activity GO:0004252 9.26 HTRA1 CFI CFB C2
4 vascular endothelial growth factor receptor binding GO:0005172 9.16 VEGFA PGF
5 serine-type peptidase activity GO:0008236 8.92 HTRA1 CFI CFB C2

Sources for Degeneration of Macula and Posterior Pole

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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