Aliases & Classifications for Iris Disease

MalaCards integrated aliases for Iris Disease:

Name: Iris Disease 12 15
Iris Diseases 44 72

Classifications:



External Ids:

Disease Ontology 12 DOID:240
MeSH 44 D007499
NCIt 50 C34737
SNOMED-CT 68 85478004
UMLS 72 C0022078

Summaries for Iris Disease

MalaCards based summary : Iris Disease, also known as iris diseases, is related to aniridia 2 and isolated aniridia. An important gene associated with Iris Disease is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drugs Alkylating Agents and Nucleic Acid Synthesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone.

Wikipedia : 75 In humans and most mammals and birds, the iris (plural: irides or irises) is a thin, circular structure... more...

Related Diseases for Iris Disease

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 aniridia 2 10.6 PAX6 ELP4
2 isolated aniridia 10.5 PAX6 FOXC1
3 conjunctival degeneration 10.5 PAX6 CRYAA
4 hereditary wilms' tumor 10.4 WT1 PAX6
5 isolated foveal hypoplasia 10.4 SLC38A8 PAX6
6 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
7 phacogenic glaucoma 10.4 PEX19 LOXL1 CRYAA
8 iridocyclitis 10.4 MRAP CRYAA
9 anterior segment dysgenesis 4 10.4 PITX2 FOXC1
10 congenital aphakia 10.3 PAX6 FOXE3
11 anterior segment dysgenesis 5 10.3 PAX6 CYP1B1
12 intestinal atresia 10.2 PITX2 PAX6 FOXC1
13 coloboma, ocular, autosomal dominant 10.2 PAX6 CYP1B1
14 congenital nystagmus 10.2 SLC38A8 PAX6
15 pinguecula 10.2 PAX6 CRYAA
16 early-onset glaucoma 10.2 PITX2 CYP1B1
17 anterior segment dysgenesis 1 10.2 PITX2 PAX6 FOXE3
18 persistent hyperplastic primary vitreous 10.1 PITX2 FOXC1
19 glaucomatocyclitic crisis 10.1 PITX2 MRAP
20 uveal disease 10.1 PEX19 PAX6 MRAP LOXL1
21 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1 WT1 PAX6 FSHB ELP4
22 glaucoma-related pigment dispersion syndrome 10.1 PITX2 LOXL1 CYP1B1
23 lens disease 10.0 PEX19 PAX6 FOXE3 CRYAA
24 hydrophthalmos 10.0 PITX2 FOXC1 CYP1B1
25 primary congenital glaucoma 10.0 PITX2 FOXC1 CYP1B1
26 coloboma of macula 9.9 PAX6 FOXE3 CYP1B1
27 axenfeld-rieger syndrome, type 1 9.9 PITX2 PAX6
28 axenfeld-rieger syndrome, type 3 9.8 PITX2 PAX6 FOXC1 CYP1B1
29 axenfeld-rieger syndrome 9.8 PITX2 PAX6 FOXC1 CYP1B1
30 juvenile glaucoma 9.8 PITX2 PAX6 FOXC1 CYP1B1
31 glaucoma 3, primary congenital, a 9.8 PITX2 PAX6 FOXC1 CYP1B1
32 adamantinoma of long bones 9.7 PITX2 PAX6 FOXC1 CYP1B1
33 peters-plus syndrome 9.4 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
34 anterior segment dysgenesis 9.0 SLC38A8 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
35 aniridia 1 6.8 WT1 SLC38A8 PITX2 PAX6 IMMP1L FSHB

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



Diseases related to Iris Disease

Symptoms & Phenotypes for Iris Disease

Drugs & Therapeutics for Iris Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Alkylating Agents
2 Nucleic Acid Synthesis Inhibitors
3 Mitomycins
4 Antibiotics, Antitubercular
5 Anti-Bacterial Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878

Search NIH Clinical Center for Iris Disease

Cochrane evidence based reviews: iris diseases

Genetic Tests for Iris Disease

Anatomical Context for Iris Disease

MalaCards organs/tissues related to Iris Disease:

41
Eye, Retina, Bone

Publications for Iris Disease

Articles related to Iris Disease:

(show all 12)
# Title Authors PMID Year
1
[Impact of the implementation of ICD-10 2016 version and Iris software on mortality statistics in Italy]. 38
31293135 2019
2
Human iris three-dimensional imaging at micron resolution by a micro-plenoptic camera. 38
29082081 2017
3
YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17. 38
27483353 2016
4
Determining immune components necessary for progression of pigment dispersing disease to glaucoma in DBA/2J mice. 38
24678736 2014
5
The prevalence of ocular complications in leprosy patients seen in the United Kingdom over a period of 21 years. 38
21423140 2011
6
C57BL/6J, DBA/2J, and DBA/2J.Gpnmb mice have different visual signal processing in the inner retina. 38
21203347 2010
7
Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes. 38
20617205 2010
8
A Thy1-CFP DBA/2J mouse line with cyan fluorescent protein expression in retinal ganglion cells. 38
19930759 2009
9
GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. 38
18402690 2008
10
Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. 38
17608931 2007
11
Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. 38
16827931 2006
12
Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. 38
11743578 2002

Variations for Iris Disease

Expression for Iris Disease

Search GEO for disease gene expression data for Iris Disease.

Pathways for Iris Disease

Pathways related to Iris Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 PITX2 PAX6 FOXC1 ELP4

GO Terms for Iris Disease

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.93 WT1 PITX2 PAX6 FOXE3 FOXC1 ELP4
2 positive regulation of gene expression GO:0010628 9.78 WT1 PAX6 FSHB FOXC1
3 visual perception GO:0007601 9.69 PAX6 CYP1B1 CRYAA
4 anatomical structure morphogenesis GO:0009653 9.61 PITX2 FOXE3 FOXC1
5 lens development in camera-type eye GO:0002088 9.49 PAX6 FOXE3
6 eye development GO:0001654 9.43 PAX6 FOXE3 FOXC1
7 transcription by RNA polymerase II GO:0006366 9.4 PAX6 FOXE3
8 cornea development in camera-type eye GO:0061303 9.37 PAX6 FOXE3
9 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
10 trabecular meshwork development GO:0002930 9.16 FOXE3 CYP1B1
11 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3
12 camera-type eye development GO:0043010 9.02 WT1 PITX2 PAX6 FOXE3 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.35 WT1 PITX2 PAX6 FOXE3 FOXC1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.33 WT1 PAX6 FOXC1
3 sequence-specific DNA binding GO:0043565 9.02 WT1 PITX2 PAX6 FOXE3 FOXC1

Sources for Iris Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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