MCID: IRS003
MIFTS: 29

Iris Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Iris Disease

MalaCards integrated aliases for Iris Disease:

Name: Iris Disease 12 15
Iris Diseases 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:240
MeSH 43 D007499
NCIt 49 C34737
SNOMED-CT 67 85478004
UMLS 71 C0022078

Summaries for Iris Disease

MalaCards based summary : Iris Disease, also known as iris diseases, is related to aniridia 1 and isolated aniridia. An important gene associated with Iris Disease is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drugs Alkylating Agents and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are respiratory system and vision/eye

Wikipedia : 74 In humans and most mammals and birds, the iris (plural: irides or irises) is a thin, annular structure... more...

Related Diseases for Iris Disease

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 aniridia 1 30.5 WT1 PITX2 PAX6 MYOC LTBP2 KRT3
2 isolated aniridia 10.6 PAX6 FOXC1
3 pax6-related aniridia 10.6 WT1 PAX6
4 aniridia 2 10.6 PAX6 ELP4
5 axenfeld-rieger syndrome, type 2 10.6 PITX2 FOXC1
6 morgagni cataract 10.5 PEX19 LOXL1 CRYAA
7 cataract 24 10.5 MRAP CRYAA
8 congenital aphakia 10.5 PAX6 FOXE3
9 cone-rod dystrophy, x-linked, 3 10.5 SERPINA3 CRYAA
10 interstitial keratitis 10.5 MRAP CRYAA
11 chronic closed-angle glaucoma 10.5 PEX19 MYOC LOXL1
12 anterior segment dysgenesis 4 10.5 PITX2 FOXC1 CRYAA
13 cornea plana 10.5 PITX2 FOXC1 CRYAA
14 ocular motility disease 10.5 SERPINA3 PAX6 CRYAA
15 ochronosis 10.5 MRAP CRYAA
16 macular dystrophy, dominant cystoid 10.5 PEX19 MRAP CRYAA
17 intestinal atresia 10.5 PITX2 PAX6 FOXC1
18 acute closed-angle glaucoma 10.5 PEX19 MYOC
19 disuse amblyopia 10.5 FOXE3 CRYAA
20 phimosis 10.5 PEX19 CYP1B1 CRYAA
21 glaucoma 1, open angle, a 10.5 MYOC CYP1B1
22 amblyopia 10.5 PAX6 FOXE3 CRYAA
23 glaucoma 3, primary infantile, b 10.5 LTBP2 CYP1B1
24 mature cataract 10.5 PEX19 CRYAA
25 deep keratitis 10.5 MRAP KRT3
26 early-onset glaucoma 10.5 PITX2 MYOC CYP1B1
27 skull base meningioma 10.5 WT1 SERPINA3
28 microphthalmia, isolated 2 10.5 PAX6 MYOC CYP1B1
29 cranial nerve disease 10.4 SERPINA3 MYOC CRYAA
30 coloboma of optic nerve 10.4 PAX6 IMMP1L DCDC1
31 steroid-induced glaucoma 10.4 SERPINA3 PEX19 MYOC CRYAA
32 sclerocornea 10.4 PAX6 FOXE3 FOXC1 CRYAA
33 physical disorder 10.4 PITX2 PAX6 CRYAA
34 dopamine beta-hydroxylase deficiency 10.4 WT1 PAX6
35 otopalatodigital syndrome, type ii 10.4 PITX2 FOXC1
36 traumatic glaucoma 10.4 MYOC LTBP2 CYP1B1
37 persistent hyperplastic primary vitreous 10.4 PITX2 PAX6 FOXE3 FOXC1
38 excessive tearing 10.4 MYOC LTBP2 CYP1B1
39 gillespie syndrome 10.4 PITX2 PAX6 IMMP1L FOXC1
40 nanophthalmos 10.4 PAX6 MYOC LOXL1 FOXE3
41 pathologic nystagmus 10.4 PAX6 DCDC1 CRYAA
42 optic nerve hypoplasia, bilateral 10.4 PAX6 MYOC GPNMB ELP4
43 heart cancer 10.4 WT1 SERPINA3
44 axenfeld-rieger syndrome, type 1 10.3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
45 lens subluxation 10.3 PEX19 PAX6 LTBP2 LOXL1 CRYAA
46 peripheral nervous system disease 10.3 SERPINA3 MYOC MRAP CRYAA
47 benign epilepsy with centrotemporal spikes 10.3 PAX6 IMMP1L ELP4 DCDC1
48 eye degenerative disease 10.3 SERPINA3 PAX6 CRYAA
49 glaucoma, normal tension 10.3 MYOC LOXL1 FOXC1 CYP1B1 CRYAA
50 anterior segment dysgenesis 5 10.3 PAX6 CYP1B1

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



Diseases related to Iris Disease

Symptoms & Phenotypes for Iris Disease

MGI Mouse Phenotypes related to Iris Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.5 FOXC1 LOXL1 LTBP2 MRAP PAX6 PITX2
2 vision/eye MP:0005391 9.23 CYP1B1 FOXC1 GPNMB LOXL1 LTBP2 MYOC

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 Anti-Bacterial Agents
3 Antibiotics, Antitubercular
4 Mitomycins

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:

40
Retina, Eye, 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]. 61
31293135 2019
2
Human iris three-dimensional imaging at micron resolution by a micro-plenoptic camera. 61
29082081 2017
3
YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17. 61
27483353 2016
4
Determining immune components necessary for progression of pigment dispersing disease to glaucoma in DBA/2J mice. 61
24678736 2014
5
The prevalence of ocular complications in leprosy patients seen in the United Kingdom over a period of 21 years. 61
21423140 2011
6
C57BL/6J, DBA/2J, and DBA/2J.Gpnmb mice have different visual signal processing in the inner retina. 61
21203347 2010
7
Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes. 61
20617205 2010
8
A Thy1-CFP DBA/2J mouse line with cyan fluorescent protein expression in retinal ganglion cells. 61
19930759 2009
9
GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. 61
18402690 2008
10
Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. 61
17608931 2007
11
Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. 61
16827931 2006
12
Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. 61
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:

# 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 collagen fibril organization GO:0030199 9.5 LOXL1 FOXC1 CYP1B1
3 cornea development in camera-type eye GO:0061303 9.43 PAX6 FOXE3
4 eye development GO:0001654 9.43 PAX6 FOXE3 FOXC1
5 positive regulation of core promoter binding GO:1904798 9.4 PAX6 FOXC1
6 lacrimal gland development GO:0032808 9.37 PAX6 FOXC1
7 trabecular meshwork development GO:0002930 9.16 FOXE3 CYP1B1
8 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3
9 camera-type eye development GO:0043010 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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