MCID: IRS003
MIFTS: 31

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 44 70

Classifications:



External Ids:

Disease Ontology 12 DOID:240
MeSH 44 D007499
NCIt 50 C34737
SNOMED-CT 67 85478004
UMLS 70 C0022078

Summaries for Iris Disease

MalaCards based summary : Iris Disease, also known as iris diseases, is related to aniridia 1 and pax6-related aniridia. An important gene associated with Iris Disease is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. The drugs Antibiotics, Antitubercular and Alkylating Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 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 90)
# Related Disease Score Top Affiliating Genes
1 aniridia 1 30.4 WT1 SIX3 PITX2 PAX6 MYOC LTBP2
2 pax6-related aniridia 10.4 WT1 PAX6
3 aniridia 2 10.4 PAX6 ELP4
4 morgagni cataract 10.4 LOXL1 CRYAA
5 foveal hypoplasia 1 10.4 PAX6 ELP4
6 hereditary wilms' tumor 10.4 WT1 PAX6 ELP4
7 aniseikonia 10.4 PAX6 FOXE3
8 congenital aphakia 10.4 PAX6 FOXE3 CRYAA
9 acquired color blindness 10.4 PITX2 PAX6 FOXC1
10 skull base meningioma 10.4 WT1 SERPINA3
11 cornea plana 10.4 PITX2 FOXC1 CRYAA
12 anterior segment dysgenesis 4 10.4 PITX2 FOXC1 CRYAA
13 intestinal atresia 10.4 PITX2 PAX6 FOXC1
14 disuse amblyopia 10.4 FOXE3 CRYAA
15 esotropia 10.4 PAX6 FOXE3 CRYAA
16 cone-rod dystrophy, x-linked, 3 10.4 SERPINA3 CRYAA
17 chronic closed-angle glaucoma 10.4 MYOC LOXL1 FOXE3
18 glaucoma 1, open angle, a 10.4 MYOC CYP1B1
19 glaucoma 3, primary infantile, b 10.4 LTBP2 CYP1B1
20 amblyopia 10.4 PAX6 FOXE3 CRYAA
21 early-onset glaucoma 10.3 PITX2 MYOC CYP1B1
22 anterior segment dysgenesis 5 10.3 PAX6 ELP4 CYP1B1
23 acute closed-angle glaucoma 10.3 MYOC CYP1B1
24 axenfeld-rieger syndrome, type 2 10.3 WDR36 PITX2 FOXC1
25 isolated aniridia 10.3 WT1 PAX6 FOXC1 ELP4
26 sclerocornea 10.3 PITX2 PAX6 FOXE3 CRYAA
27 lens subluxation 10.3 PAX6 LTBP2 LOXL1 CRYAA
28 phimosis 10.3 ELN CYP1B1 CRYAA
29 colobomatous microphthalmia 10.3 SIX3 PITX2 PAX6
30 anisometropia 10.3 PAX6 CRYAA
31 gillespie syndrome 10.3 PITX2 PAX6 IMMP1L FOXC1
32 persistent hyperplastic primary vitreous 10.3 PITX2 PAX6 FOXE3 FOXC1
33 ocular hypertension 10.3 WDR36 MYOC CRYAA
34 congenital nervous system abnormality 10.3 SIX3 PAX6 CRYAA
35 septooptic dysplasia 10.3 SIX3 PITX2 PAX6
36 glaucoma 1, open angle, d 10.3 MYOC LTBP2 CYP1B1
37 physical disorder 10.3 SIX3 PAX6 CRYAA
38 sensory system disease 10.3 SERPINA3 PAX6 MYOC CRYAA
39 coloboma of optic nerve 10.3 PAX6 IMMP1L ELP4 DCDC1
40 optic nerve hypoplasia, bilateral 10.3 PAX6 MYOC GPNMB ELP4
41 pathologic nystagmus 10.3 PAX6 ELP4 CRYAA
42 traumatic glaucoma 10.3 MYOC LTBP2 LOXL1 CYP1B1
43 hypertelorism 10.3 PAX6 FOXC1 ELP4 ELN
44 stickler syndrome 10.3 LOXL1 ELN CRYAA
45 axenfeld-rieger syndrome, type 1 10.3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
46 inguinal hernia 10.3 WT1 LOXL1 ELN
47 cranial nerve disease 10.2 WDR36 SERPINA3 MYOC CRYAA
48 eye degenerative disease 10.2 SERPINA3 PAX6 CRYAA
49 microphthalmia, isolated 2 10.2 WDR36 PAX6 MYOC CYP1B1
50 benign epilepsy with centrotemporal spikes 10.2 PAX6 IMMP1L ELP4 DCDC1

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



Diseases related to Iris Disease

Symptoms & Phenotypes for Iris Disease

GenomeRNAi Phenotypes related to Iris Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.64 ELP4
2 Decreased viability GR00249-S 9.64 CRYAA CYP1B1 LTBP2 PITX2 SERPINA3
3 Decreased viability GR00381-A-1 9.64 MYOC WT1
4 Decreased viability GR00386-A-1 9.64 ELN GPNMB LOXL1 PAX6
5 Decreased viability GR00402-S-2 9.64 CRYAA ELN ELP4 GPNMB KRT3 LOXL1

MGI Mouse Phenotypes related to Iris Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.5 FOXC1 LOXL1 LTBP2 PAX6 PITX2 SIX3
2 vision/eye MP:0005391 9.28 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 Antibiotics, Antitubercular
2 Alkylating Agents
3 Mitomycins
4 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:

40
Eye, Retina, Bone Marrow, Heart

Publications for Iris Disease

Articles related to Iris Disease:

(show all 13)
# Title Authors PMID Year
1
Complement peptide C3a receptor 1 promotes optic nerve degeneration in DBA/2J mice. 61
33176797 2020
2
[Impact of the implementation of ICD-10 2016 version and Iris software on mortality statistics in Italy]. 61
31293135 2019
3
Human iris three-dimensional imaging at micron resolution by a micro-plenoptic camera. 61
29082081 2017
4
YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17. 61
27483353 2016
5
Determining immune components necessary for progression of pigment dispersing disease to glaucoma in DBA/2J mice. 61
24678736 2014
6
The prevalence of ocular complications in leprosy patients seen in the United Kingdom over a period of 21 years. 61
21423140 2011
7
C57BL/6J, DBA/2J, and DBA/2J.Gpnmb mice have different visual signal processing in the inner retina. 61
21203347 2010
8
Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes. 61
20617205 2010
9
A Thy1-CFP DBA/2J mouse line with cyan fluorescent protein expression in retinal ganglion cells. 61
19930759 2009
10
GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. 61
18402690 2008
11
Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. 61
17608931 2007
12
Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. 61
16827931 2006
13
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
11.74 PITX2 PAX6 FOXC1 ELP4
2 10.96 SIX3 PAX6 FOXC1
3
Show member pathways
10.66 LTBP2 LOXL1 ELN

GO Terms for Iris Disease

Cellular components related to Iris Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.02 SERPINA3 MYOC LTBP2 LOXL1 ELN

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 WDR36 SIX3 PAX6 CYP1B1 CRYAA
2 collagen fibril organization GO:0030199 9.58 LOXL1 FOXC1 CYP1B1
3 lens development in camera-type eye GO:0002088 9.54 SIX3 PAX6 FOXE3
4 cornea development in camera-type eye GO:0061303 9.51 PAX6 FOXE3
5 positive regulation of core promoter binding GO:1904798 9.49 PAX6 FOXC1
6 lacrimal gland development GO:0032808 9.48 PAX6 FOXC1
7 telencephalon regionalization GO:0021978 9.46 SIX3 PAX6
8 forebrain dorsal/ventral pattern formation GO:0021798 9.43 SIX3 PAX6
9 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
10 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
11 eye development GO:0001654 9.26 SIX3 PAX6 FOXE3 FOXC1
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 transcription regulatory region sequence-specific DNA binding GO:0000976 8.92 WT1 PITX2 PAX6 FOXC1

Sources for Iris 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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