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 anterior segment dysgenesis 4 and isolated 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 Anti-Bacterial Agents and Alkylating Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 4 32.2 PITX2 FOXC1 CRYAA
2 isolated aniridia 10.6 PAX6 FOXC1
3 aniridia 2 10.6 PAX6 ELP4
4 pax6-related aniridia 10.6 WT1 PAX6
5 axenfeld-rieger syndrome, type 2 10.6 PITX2 FOXC1
6 optic nerve hypoplasia, bilateral 10.5 PAX6 ELP4
7 congenital aphakia 10.5 PAX6 FOXE3
8 ocular motility disease 10.5 SERPINA3 PAX6 CRYAA
9 pseudopterygium 10.5 PAX6 KRT3
10 anterior segment dysgenesis 5 10.5 PAX6 CYP1B1
11 morgagni cataract 10.5 PEX19 CRYAA
12 acquired color blindness 10.5 PITX2 PAX6 FOXC1
13 cataract 24 10.5 MRAP CRYAA
14 exfoliation syndrome 10.5 SERPINA3 LOXL1 CRYAA
15 cornea plana 10.5 PITX2 FOXC1 CRYAA
16 intestinal atresia 10.5 PITX2 PAX6 FOXC1
17 chronic closed-angle glaucoma 10.5 MYOC LOXL1
18 amblyopia 10.5 PAX6 FOXE3 CRYAA
19 ochronosis 10.5 MRAP CRYAA
20 phimosis 10.5 PEX19 CYP1B1 CRYAA
21 traumatic glaucoma 10.5 MYOC LTBP2
22 glaucoma 1, open angle, a 10.5 MYOC CYP1B1
23 deep keratitis 10.5 MRAP KRT3
24 acute closed-angle glaucoma 10.4 PEX19 MYOC
25 cone-rod dystrophy, x-linked, 3 10.4 SERPINA3 CRYAA
26 lens subluxation 10.4 PEX19 PAX6 LOXL1 CRYAA
27 glaucoma 3, primary infantile, b 10.4 LTBP2 CYP1B1
28 disuse amblyopia 10.4 FOXE3 CRYAA
29 early-onset glaucoma 10.4 PITX2 MYOC CYP1B1
30 coloboma of optic nerve 10.4 PAX6 IMMP1L DCDC1
31 congenital hypopituitarism 10.4 SIX3 PITX2 PAX6
32 skull base meningioma 10.4 WT1 SERPINA3
33 hypopituitarism 10.4 SIX3 PITX2 PAX6
34 colobomatous microphthalmia 10.4 SIX3 PITX2 PAX6
35 dopamine beta-hydroxylase deficiency 10.4 WT1 PAX6
36 pathologic nystagmus 10.4 PAX6 DCDC1 CRYAA
37 ocular hypertension 10.4 WDR36 MYOC CRYAA
38 persistent hyperplastic primary vitreous 10.4 PITX2 PAX6 FOXE3 FOXC1
39 keratitis, hereditary 10.4 PAX6 KRT3 ELP4 CRYAA
40 septooptic dysplasia 10.4 SIX3 PITX2 PAX6
41 congenital nervous system abnormality 10.4 SIX3 PAX6 CRYAA
42 cranial nerve disease 10.3 WDR36 SERPINA3 MYOC CRYAA
43 presbyopia 10.3 FOXE3 CRYAA
44 optic nerve disease 10.3 WDR36 SERPINA3 MYOC CRYAA
45 benign epilepsy with centrotemporal spikes 10.3 PAX6 IMMP1L ELP4 DCDC1
46 axenfeld-rieger syndrome, type 1 10.3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
47 sclerocornea 10.3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
48 physical disorder 10.3 SIX3 PAX6 CRYAA
49 tooth agenesis 10.3 PITX2 PAX6 LTBP2 FOXC1
50 microphthalmia, isolated 2 10.3 WDR36 PAX6 MYOC CYP1B1

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 10.02 ELP4
2 Decreased viability GR00381-A-1 10.02 MYOC WT1
3 Decreased viability GR00402-S-2 10.02 CRYAA CYP1B1 DCDC1 ELP4 FOXC1 FOXE3
4 no effect GR00402-S-1 9.62 CRYAA CYP1B1 DCDC1 ELP4 FOXC1 FOXE3

MGI Mouse Phenotypes related to Iris Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.56 FOXC1 LOXL1 LTBP2 MRAP PAX6 PITX2
2 vision/eye MP:0005391 9.23 CYP1B1 FOXC1 GPNMB LTBP2 MYOC PAX6

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 Anti-Bacterial Agents
2 Alkylating 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
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]. 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
2 10.76 SIX3 PAX6 FOXC1

GO Terms for Iris Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.99 WT1 PITX2 PAX6 FOXE3 FOXC1 ELP4
2 anatomical structure morphogenesis GO:0009653 9.7 PITX2 FOXE3 FOXC1
3 visual perception GO:0007601 9.65 WDR36 SIX3 PAX6 CYP1B1 CRYAA
4 lens development in camera-type eye GO:0002088 9.54 SIX3 PAX6 FOXE3
5 cornea development in camera-type eye GO:0061303 9.49 PAX6 FOXE3
6 positive regulation of core promoter binding GO:1904798 9.48 PAX6 FOXC1
7 lacrimal gland development GO:0032808 9.46 PAX6 FOXC1
8 telencephalon regionalization GO:0021978 9.43 SIX3 PAX6
9 forebrain dorsal/ventral pattern formation GO:0021798 9.4 SIX3 PAX6
10 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
11 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
12 eye development GO:0001654 9.26 SIX3 PAX6 FOXE3 FOXC1
13 camera-type eye development GO:0043010 9.1 WT1 SIX3 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, RNA polymerase II-specific GO:0000981 9.63 WT1 SIX3 PITX2 PAX6 FOXE3 FOXC1
2 DNA-binding transcription factor activity GO:0003700 9.43 WT1 SIX3 PITX2 PAX6 FOXE3 FOXC1
3 sequence-specific DNA binding GO:0043565 9.1 WT1 SIX3 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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