MCID: EYD001
MIFTS: 27

Eye Degenerative Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Eye Degenerative Disease

MalaCards integrated aliases for Eye Degenerative Disease:

Name: Eye Degenerative Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:9799
ICD9CM 34 360.4
SNOMED-CT 67 62585004
ICD10 32 H44.5
UMLS 70 C0154777

Summaries for Eye Degenerative Disease

MalaCards based summary : Eye Degenerative Disease is related to vitreoretinal degeneration, snowflake type and siderosis of eye. An important gene associated with Eye Degenerative Disease is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. Affiliated tissues include eye, bone and skin, and related phenotypes are nervous system and pigmentation

Related Diseases for Eye Degenerative Disease

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

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal degeneration, snowflake type 11.0
2 siderosis of eye 11.0
3 red-green color blindness 10.6 RPGR RPE65 RHO ABCA4
4 kuhnt-junius degeneration 10.6 VEGFA CRYAA CFHR2 CFH ARMS2
5 angioid streaks 10.6 VEGFA CFHR2 CFH ARMS2
6 sorsby fundus dystrophy 10.6 VEGFA RHO CRYAA CFHR2 ARMS2
7 yemenite deaf-blind hypopigmentation syndrome 10.6 VEGFA RPE65 RHO CFH ABCA4
8 vitreous disease 10.6 VEGFA RPE65 RHO CRYAA BEST1
9 choroiditis 10.6 VEGFA CFH ARMS2 ABCA4
10 solar retinopathy 10.6 RHO CRB1 ABCA4
11 cone-rod dystrophy 3 10.6 ERCC6 CRYAA CRX ABCA4
12 basal laminar drusen 10.6 CFH BEST1 ARMS2 ABCA4
13 macular degeneration, age-related, 6 10.6 CFH BEST1 ABCA4
14 retinal perforation 10.6 VEGFA RS1 RPE65 CRYAA
15 peripheral retinal degeneration 10.6 RHO CRB1 BEST1 ABCA4
16 retinal drusen 10.6 ERCC6 CFHR2 CFH BEST1 ARMS2 ABCA4
17 bullous retinoschisis 10.6 VEGFA RS1 CFH ARMS2
18 macular degeneration, age-related, 4 10.6 CFH BEST1 ABCA4
19 retinal vascular disease 10.6 VEGFA RHO H2AC18 CRYAA
20 cone-rod dystrophy, x-linked, 3 10.6 SERPINA3 RPGR CRYAA
21 congenital nervous system abnormality 10.6 RNU4ATAC PRODH H2AC18 ERCC6 CRYAA CFHR2
22 chorioretinal scar 10.6 VEGFA RHO CRB1 BEST1 ABCA4
23 color blindness 10.6 RPGR RPE65 RHO PDE6B CRYAA ABCA4
24 doyne honeycomb retinal dystrophy 10.6 ERCC6 CRYAA CFHR2 CFH BEST1 ARMS2
25 corneal disease 10.6 VEGFA SERPINA3 H2AC18 ERCC6 CRYAA
26 degenerative myopia 10.6 VEGFA CFH ARMS2
27 macular holes 10.6 VEGFA RS1 RPE65 CRYAA
28 optic disk drusen 10.6 RPGR RHO CRB1
29 bestrophinopathy, autosomal recessive 10.6 RPE65 CRB1 BEST1 ABCA4
30 choroideremia 10.6 RPGR RPE65 RHO BEST1 ABCA4
31 leber congenital amaurosis 3 10.6 RPE65 CRYAA CRX CRB1
32 ovary adenocarcinoma 10.6 VEGFA SERPINA3 H2AC18 CFHR2
33 hair disease 10.6 VEGFA SERPINA3 RNU4ATAC H2AC18 ERCC6
34 macular retinal edema 10.6 VEGFA RHO CRYAA CRB1 CFH BEST1
35 retinitis pigmentosa 20 10.6 RPGR RPE65 H2AC18
36 blood group, globoside system 10.6 VEGFA RPE65 CRYAA
37 leber congenital amaurosis 1 10.6 RPE65 RHO CRX CRB1
38 physical disorder 10.6 RNU4ATAC PRODH H2AC18 ERCC6 CRYAA
39 carbohydrate metabolic disorder 10.6 PRODH H2AC18 ERCC6 CRYAA
40 retinitis 10.6 RPGR RPE65 RHO PDE6B CRB1 ABCA4
41 scotoma 10.6 VEGFA RPGR RPE65 RHO CRB1 ABCA4
42 glaucoma, primary open angle 10.6 VEGFA SERPINA3 RHO CRYAA ABCA4
43 lymphangioma 10.6 VEGFA SERPINA3 H2AC18 ERCC6
44 muscle tissue disease 10.6 U2AF1 SERPINA3 RNU4ATAC H2AC18 ERCC6 CRYAA
45 enhanced s-cone syndrome 10.6 RPGR RPE65 RHO CRX
46 leber congenital amaurosis 10 10.6 RPGR RPE65 CRX CRB1
47 multicentric castleman disease 10.6 VEGFA H2AC18 CFHR2
48 intestinal benign neoplasm 10.6 VEGFA SERPINA3 H2AC18 ERCC6
49 leber congenital amaurosis 2 10.6 RPGR RPE65 RHO CRYAA CRX CRB1
50 cerebral degeneration 10.6 SERPINA3 PRODH H2AC18 ERCC6 CRYAA

Graphical network of the top 20 diseases related to Eye Degenerative Disease:



Diseases related to Eye Degenerative Disease

Symptoms & Phenotypes for Eye Degenerative Disease

MGI Mouse Phenotypes related to Eye Degenerative Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 ABCA4 CFH CRB1 CRX ERCC6 PDE6B
2 pigmentation MP:0001186 9.7 ABCA4 BEST1 CFH CRB1 CRX PDE6B
3 vision/eye MP:0005391 9.4 ABCA4 BEST1 CFH CRB1 CRX ERCC6

Drugs & Therapeutics for Eye Degenerative Disease

Search Clinical Trials , NIH Clinical Center for Eye Degenerative Disease

Genetic Tests for Eye Degenerative Disease

Anatomical Context for Eye Degenerative Disease

MalaCards organs/tissues related to Eye Degenerative Disease:

40
Eye, Bone, Skin, Ovary, Bone Marrow, Retina, Heart

Publications for Eye Degenerative Disease

Articles related to Eye Degenerative Disease:

# Title Authors PMID Year
1
Baicalin Alleviates Age-Related Macular Degeneration via miR-223/NLRP3-Regulated Pyroptosis. 61
31578016 2020

Variations for Eye Degenerative Disease

Expression for Eye Degenerative Disease

Search GEO for disease gene expression data for Eye Degenerative Disease.

Pathways for Eye Degenerative Disease

GO Terms for Eye Degenerative Disease

Cellular components related to Eye Degenerative Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.33 RHO PDE6B ABCA4
2 photoreceptor inner segment GO:0001917 9.26 RS1 RHO CRB1 ARMS2
3 photoreceptor outer segment GO:0001750 9.02 RPGR RHO PDE6B CRB1 ABCA4

Biological processes related to Eye Degenerative Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.62 RPE65 RHO PDE6B CRB1
2 retinoid metabolic process GO:0001523 9.61 RPE65 RHO ABCA4
3 response to stimulus GO:0050896 9.61 RS1 RPGR RPE65 RHO PDE6B CRYAA
4 detection of light stimulus involved in visual perception GO:0050908 9.54 RPE65 CRB1 BEST1
5 retina morphogenesis in camera-type eye GO:0060042 9.48 RPE65 CRB1
6 rhodopsin mediated signaling pathway GO:0016056 9.46 RHO PDE6B
7 photoreceptor cell maintenance GO:0045494 9.46 RHO ERCC6 CRB1 ABCA4
8 phototransduction, visible light GO:0007603 9.43 RHO PDE6B ABCA4
9 detection of light stimulus GO:0009583 9.4 RHO PDE6B
10 visual perception GO:0007601 9.32 RS1 RPGR RPE65 RHO PDE6B CRYAA

Sources for Eye Degenerative 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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