MCID: CHR077
MIFTS: 31

Chorioretinal Scar

Categories: Eye diseases

Aliases & Classifications for Chorioretinal Scar

MalaCards integrated aliases for Chorioretinal Scar:

Name: Chorioretinal Scar 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11086
ICD10 33 H31.0 H31.00
ICD9CM 35 363.3 363.30
UMLS 73 C0008512

Summaries for Chorioretinal Scar

MalaCards based summary : Chorioretinal Scar is related to hypomagnesemia 5, renal, with ocular involvement and pseudobulbar palsy. An important gene associated with Chorioretinal Scar is JMJD6 (Arginine Demethylase And Lysine Hydroxylase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Gastric cancer. Affiliated tissues include eye, and related phenotypes are cellular and homeostasis/metabolism

Related Diseases for Chorioretinal Scar

Diseases related to Chorioretinal Scar via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 5, renal, with ocular involvement 11.0
2 pseudobulbar palsy 10.5 NOTCH3 NOTCH4
3 branch retinal artery occlusion 10.4 CD40LG FANCG
4 atypical choroid plexus papilloma 10.3 NOTCH3 NOTCH4
5 chorioretinitis 10.3
6 carrion's disease 10.3 CD40LG VSIR
7 osteosclerotic myeloma 10.2 CD40LG IRGC
8 plasmodium malariae malaria 10.2 CD40LG SAMHD1
9 urethral syndrome 10.0 CD40LG SAMHD1
10 tibial neuropathy 10.0 NOTCH1 PLIN1
11 granulomatous gastritis 9.9 CD40LG NOTCH1
12 tarsal tunnel syndrome 9.9 NOTCH1 PLIN1
13 retinoblastoma 9.9
14 uveitis 9.9
15 retinitis 9.9
16 brachial plexus neuritis 9.9 CD40LG NOTCH1
17 lung adenoma 9.9 NOTCH1 NOTCH3
18 ossifying fibroma 9.8 NOTCH1 NOTCH3
19 retinal detachment 9.8
20 chronic granulomatous disease 9.8
21 choroiditis 9.8
22 sympathetic ophthalmia 9.8
23 congenital toxoplasmosis 9.8
24 fuchs' heterochromic uveitis 9.8
25 iridocyclitis 9.8
26 toxoplasmosis 9.8
27 anterior uveitis 9.8
28 congenital cytomegalovirus 9.8
29 cytomegalovirus infection 9.8
30 purulent endophthalmitis 9.7 SAMHD1 TERT
31 granulomatous hepatitis 9.7 CD40LG FASLG
32 solar retinopathy 9.7 ATXN7 IRGC RHO VSIR
33 optic disk drusen 9.5 ABCC6 NOTCH1 RHO
34 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.5 NOTCH1 NOTCH3 NOTCH4
35 hajdu-cheney syndrome 9.5 NOTCH1 NOTCH3 NOTCH4
36 brain glioma 9.3 FASLG NOTCH1
37 ewing sarcoma 9.3 ABCC6 CD40LG FASLG RHO

Graphical network of the top 20 diseases related to Chorioretinal Scar:



Diseases related to Chorioretinal Scar

Symptoms & Phenotypes for Chorioretinal Scar

MGI Mouse Phenotypes related to Chorioretinal Scar:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 CD40LG FANCG NOTCH1 FASLG JMJD6 RHO
2 homeostasis/metabolism MP:0005376 10.13 CD40LG NOTCH1 FASLG ABCC6 JMJD6 NOTCH4
3 cardiovascular system MP:0005385 10.1 CD40LG NOTCH1 FASLG ABCC6 JMJD6 RHO
4 endocrine/exocrine gland MP:0005379 10.06 NOTCH1 FANCG FASLG NOTCH3 JMJD6 CD40LG
5 immune system MP:0005387 10.06 NOTCH1 FASLG NOTCH3 JMJD6 CD40LG RHO
6 mortality/aging MP:0010768 10.02 JMJD6 CD40LG NOTCH1 FASLG ATXN7 NOTCH4
7 integument MP:0010771 9.91 CD40LG NOTCH1 FASLG ABCC6 JMJD6 PLIN1
8 nervous system MP:0003631 9.91 CD40LG NOTCH1 FASLG NOTCH3 JMJD6 ATXN7
9 renal/urinary system MP:0005367 9.63 JMJD6 CD40LG NOTCH1 FASLG ABCC6 NOTCH3
10 respiratory system MP:0005388 9.43 JMJD6 NOTCH1 FASLG TERT VSIR NOTCH3
11 vision/eye MP:0005391 9.23 NOTCH1 FASLG NOTCH3 ABCC6 JMJD6 ATXN7

Drugs & Therapeutics for Chorioretinal Scar

Search Clinical Trials , NIH Clinical Center for Chorioretinal Scar

Genetic Tests for Chorioretinal Scar

Anatomical Context for Chorioretinal Scar

MalaCards organs/tissues related to Chorioretinal Scar:

41
Eye

Publications for Chorioretinal Scar

Articles related to Chorioretinal Scar:

(show all 11)
# Title Authors Year
1
Chorioretinal scars and visual deprivation are common in children with cochlear implants after congenital cytomegalovirus infection. ( 25727729 )
2015
2
Molecular identification of bacterial DNA in the chorioretinal scars of chronic granulomatous disease. ( 23636897 )
2013
3
TINU (Tubulointerstitial Nephritis Uveitis) Can Be Associated with Chorioretinal Scars. ( 24143861 )
2013
4
Continued vision loss from progressive expansion of inactive chorioretinal scars in a myopic patient with well-controlled sympathetic ophthalmia. ( 25389936 )
2012
5
A patient with chorioretinal scars and anterior uveitis. ( 19429587 )
2010
6
Atrophic chorioretinal scar and focal scleral bowing following thermochemotherapy with a diode laser for retinoblastoma. ( 16543200 )
2006
7
Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization secondary to toxoplasmic chorioretinal scar. ( 15162283 )
2004
8
Chorioretinal scar growth after 810-nanometer laser treatment for retinoblastoma. ( 15121379 )
2004
9
Vasoproliferative retinal tumors associated with peripheral chorioretinal scars in presumed congenital toxoplasmosis. ( 10654174 )
1999
10
Tears of the retinal pigment epithelium. Occurrence in retinal detachments and a chorioretinal scar. ( 6463397 )
1984
11
Chorioretinal scars in Fuchs' heterochromic iridocyclitis. ( 6331819 )
1984

Variations for Chorioretinal Scar

Expression for Chorioretinal Scar

Search GEO for disease gene expression data for Chorioretinal Scar.

Pathways for Chorioretinal Scar

GO Terms for Chorioretinal Scar

Cellular components related to Chorioretinal Scar according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.56 ATXN7 FANCG JMJD6 NOTCH1 NOTCH3 NOTCH4
2 plasma membrane GO:0005886 9.4 ABCC6 CD40LG FANCG FASLG JMJD6 NOTCH1

Biological processes related to Chorioretinal Scar according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.78 CD40LG FASLG NOTCH1 SAMHD1
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.63 NOTCH1 NOTCH3 NOTCH4
3 Notch signaling pathway GO:0007219 9.5 NOTCH1 NOTCH3 NOTCH4
4 neuron fate commitment GO:0048663 9.43 NOTCH1 NOTCH3
5 sprouting angiogenesis GO:0002040 9.4 JMJD6 NOTCH1
6 positive regulation of endothelial cell apoptotic process GO:2000353 9.37 CD40LG FASLG
7 negative regulation of cell differentiation GO:0045596 9.33 NOTCH1 NOTCH3 NOTCH4
8 negative regulation of glial cell proliferation GO:0060253 9.26 NOTCH1 TERT
9 positive regulation of transcription of Notch receptor target GO:0007221 9.13 NOTCH1 NOTCH3 NOTCH4
10 regulation of developmental process GO:0050793 8.8 NOTCH1 NOTCH3 NOTCH4

Molecular functions related to Chorioretinal Scar according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 8.96 CD40LG FASLG
2 signaling receptor activity GO:0038023 8.8 JMJD6 NOTCH3 NOTCH4

Sources for Chorioretinal Scar

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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