MCID: DGN003
MIFTS: 32

Degeneration of Macula and Posterior Pole

Categories: Eye 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
Degeneration of Macula and Posterior Pole of Retina 12
Degeneration of Macula or Posterior Pole 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2007
ICD10 33 H35.3
ICD9CM 35 362.5
UMLS 73 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 de novo thrombotic microangiopathy after kidney transplantation and central serous chorioretinopathy. An important gene associated with Degeneration of Macula and Posterior Pole is CFH (Complement Factor H), and among its related pathways/superpathways are Creation of C4 and C2 activators 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 retina and eye, and related phenotypes are homeostasis/metabolism and hematopoietic system

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 all 36)
# Related Disease Score Top Affiliating Genes
1 de novo thrombotic microangiopathy after kidney transplantation 10.9 CFH CFI
2 central serous chorioretinopathy 10.8 ARMS2 CFH
3 severe early-childhood-onset retinal dystrophy 10.8 ABCA4 RPE65
4 dense deposit disease 10.8 CFB CFH
5 familial drusen 10.7 CFH CFI EFEMP1
6 enterocolitis 10.6 CFB CFH CFI
7 complement component 3 deficiency 10.6 CFB CFI
8 complement factor h deficiency 10.6 CFH CFHR1 CFI
9 angiokeratoma circumscriptum 10.6 KDR VEGFA
10 basal laminar drusen 10.6 CFH HMCN1
11 stargardt macular degeneration 10.6 ABCA4 ELOVL4 RHO
12 doyne honeycomb retinal dystrophy 10.5 EFEMP1 ELOVL4
13 hemolytic uremic syndrome, atypical 1 10.5 CFH CFHR1 CFHR3
14 retinal drusen 10.5 ARMS2 CFB CFH EFEMP1
15 c3 glomerulopathy 10.5 CFB CFHR1 CFHR3
16 red-green color blindness 10.5 ABCA4 RHO RPE65
17 myopic macular degeneration 10.5
18 toxic maculopathy due to antimalarial drugs 10.5
19 stargardt disease 1 10.5 ABCA4 ELOVL4 RHO
20 acute hemorrhagic leukoencephalitis 10.4 CFI KDR VEGFA
21 multifocal choroiditis 10.4 ARMS2 CFB CFH HTRA1
22 choroiditis 10.4 ARMS2 CFB CFH HTRA1
23 capillary hemangioma 10.4 KDR VEGFA
24 stargardt disease 10.3 ABCA4 ELOVL4 RHO RPE65
25 skin hemangioma 10.3 KDR VEGFA
26 coats disease 10.3 KDR RHO VEGFA
27 cone-rod dystrophy 2 10.3 ABCA4 RHO RPE65 TIMP3
28 yemenite deaf-blind hypopigmentation syndrome 10.2 ABCA4 CFH RHO RPE65 VEGFA
29 radiation proctitis 10.2 KDR VEGFA
30 leber congenital amaurosis 10.1 ABCA4 ELOVL4 RHO RPE65
31 hemolytic-uremic syndrome 10.1 CFB CFH CFHR1 CFHR3 CFI
32 epithelioid hemangioendothelioma 9.9 KDR VEGFA
33 fundus dystrophy 9.8 ABCA4 EFEMP1 ELOVL4 RHO RPE65 TIMP3
34 retinal disease 9.7 ABCA4 ARMS2 CFB CFH ELOVL4 RHO
35 kuhnt-junius degeneration 9.2 ARMS2 CFB CFH HTRA1 KDR SKIV2L
36 macular degeneration, age-related, 1 4.8 ABCA4 ARMS2 CFB CFH CFHR1 CFHR3

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 homeostasis/metabolism MP:0005376 10.17 ABCA4 CFB CFH CFI CX3CR1 EFEMP1
2 hematopoietic system MP:0005397 10.15 ELOVL4 KDR RHO RPE65 TIMP3 VEGFA
3 cardiovascular system MP:0005385 10.1 ABCA4 CFH CX3CR1 EFEMP1 HTRA1 KDR
4 immune system MP:0005387 9.96 KDR RHO RPE65 TIMP3 VEGFA ABCA4
5 pigmentation MP:0001186 9.76 ABCA4 CFH CX3CR1 EFEMP1 ELOVL4 RHO
6 renal/urinary system MP:0005367 9.5 CFB CFH CFI CX3CR1 EFEMP1 TIMP3
7 vision/eye MP:0005391 9.36 EFEMP1 ELOVL4 HTRA1 KDR RHO RPE65

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
3 Angiogenesis Modulating Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Changes in the Parameters of Optical Coherence Tomography After 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:

41
Retina, Eye

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

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 exosome GO:0070062 9.96 CFB CFH CFHR1 CFHR3 CFI EFEMP1
2 extracellular region GO:0005576 9.7 CFB CFH CFHR1 CFI EFEMP1 HMCN1
3 extracellular matrix GO:0031012 9.62 EFEMP1 HMCN1 HTRA1 TIMP3
4 blood microparticle GO:0072562 9.46 CFB CFH CFHR1 CFHR3
5 photoreceptor disc membrane GO:0097381 9.37 ABCA4 RHO
6 extracellular space GO:0005615 9.32 CFB CFH CFHR1 CFHR3 CFI EFEMP1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.85 ABCA4 HMCN1 RHO RPE65 TIMP3
2 complement activation GO:0006956 9.61 CFB CFH CFHR1
3 positive regulation of neuroblast proliferation GO:0002052 9.49 CX3CR1 VEGFA
4 cell migration involved in sprouting angiogenesis GO:0002042 9.48 KDR VEGFA
5 retinoid metabolic process GO:0001523 9.43 ABCA4 RHO RPE65
6 complement activation, alternative pathway GO:0006957 9.4 CFB CFH
7 positive regulation of positive chemotaxis GO:0050927 9.37 KDR VEGFA
8 phototransduction, visible light GO:0007603 9.32 ABCA4 RHO
9 regulation of complement activation GO:0030449 9.26 CFB CFH CFHR1 CFI
10 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.16 KDR VEGFA
11 visual perception GO:0007601 9.1 ABCA4 EFEMP1 HMCN1 RHO RPE65 TIMP3

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 8.62 ELOVL4 RHO

Sources for Degeneration of Macula and Posterior Pole

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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