Iris Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IRS003 MIFTS: 29	Iris Disease Categories: Eye diseases, Neuronal diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Iris Disease

MalaCards integrated aliases for Iris Disease:

Name: Iris Disease ¹² ¹⁵

Iris Diseases ⁴³ ⁷¹

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:240

MeSH ⁴³ D007499

NCIt ⁴⁹ C34737

SNOMED-CT ⁶⁷ 85478004

UMLS ⁷¹ C0022078

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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...

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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:

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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

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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

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Genetic Tests for Iris Disease

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Anatomical Context for Iris Disease

MalaCards organs/tissues related to Iris Disease:

⁴⁰

Retina, Eye, Bone

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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	Orsi C...Grippo F	31293135	2019
2	Human iris three-dimensional imaging at micron resolution by a micro-plenoptic camera. ⁶¹	Chen H...Sick V	29082081	2017
3	YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17. ⁶¹	Nair KS...John SW	27483353	2016
4	Determining immune components necessary for progression of pigment dispersing disease to glaucoma in DBA/2J mice. ⁶¹	Nair KS...John SW	24678736	2014
5	The prevalence of ocular complications in leprosy patients seen in the United Kingdom over a period of 21 years. ⁶¹	Malik AN...Ffytche TJ	21423140	2011
6	C57BL/6J, DBA/2J, and DBA/2J.Gpnmb mice have different visual signal processing in the inner retina. ⁶¹	Porciatti V...Feuer WJ	21203347	2010
7	Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes. ⁶¹	Trantow CM...Anderson MG	20617205	2010
8	A Thy1-CFP DBA/2J mouse line with cyan fluorescent protein expression in retinal ganglion cells. ⁶¹	Raymond ID...Brecha NC	19930759	2009
9	GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. ⁶¹	Anderson MG...John SW	18402690	2008
10	Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. ⁶¹	Howell GR...John SW	17608931	2007
11	Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. ⁶¹	Anderson MG...John SW	16827931	2006
12	Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. ⁶¹	Anderson MG...John SW	11743578	2002

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Genes for Iris Disease

Genes related to Iris Disease (0 elite genes):

(show all 35)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CRYAA	Crystallin Alpha A	Protein Coding	11.99	DISEASES inferred ¹⁵ ¹⁵
2	PAX6	Paired Box 6	Protein Coding	9.65	DISEASES inferred ¹⁵
3	LOXL1	Lysyl Oxidase Like 1	Protein Coding	9.2	DISEASES inferred ¹⁵
4	PEX19	Peroxisomal Biogenesis Factor 19	Protein Coding	7.9	DISEASES inferred ¹⁵
5	WT1	WT1 Transcription Factor	Protein Coding	7.83	DISEASES inferred ¹⁵
6	FOXC1	Forkhead Box C1	Protein Coding	7.64	DISEASES inferred ¹⁵
7	PITX2	Paired Like Homeodomain 2	Protein Coding	7.45	DISEASES inferred ¹⁵
8	SERPINA3	Serpin Family A Member 3	Protein Coding	7.37	DISEASES inferred ¹⁵ ¹⁵
9	MYOC	Myocilin	Protein Coding	7.2	DISEASES inferred ¹⁵
10	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	7.2	DISEASES inferred ¹⁵
11	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	7.02	DISEASES inferred ¹⁵
12	FOXE3	Forkhead Box E3	Protein Coding	7.01	DISEASES inferred ¹⁵
13	IMMP1L	Inner Mitochondrial Membrane Peptidase Subunit 1	Protein Coding	6.94	DISEASES inferred ¹⁵
14	DCDC1	Doublecortin Domain Containing 1	Protein Coding	6.84	DISEASES inferred ¹⁵
15	GPNMB	Glycoprotein Nmb	Protein Coding	6.77	DISEASES inferred ¹⁵
16	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	6.75	DISEASES inferred ¹⁵
17	CYP1B1	Cytochrome P450 Family 1 Subfamily B Member 1	Protein Coding	6.69	DISEASES inferred ¹⁵
18	LOXL1-AS1	LOXL1 Antisense RNA 1	RNA Gene	6.62	DISEASES inferred ¹⁵
19	KRT3	Keratin 3	Protein Coding	6.6	DISEASES inferred ¹⁵
20	TLCD5	TLC Domain Containing 5	Protein Coding	6.59	DISEASES inferred ¹⁵
21	WDR36	WD Repeat Domain 36	Protein Coding	6.59	DISEASES inferred ¹⁵
22	ELN	Elastin	Protein Coding	6.55	DISEASES inferred ¹⁵
23	DNAJC24	DnaJ Heat Shock Protein Family (Hsp40) Member C24	Protein Coding	6.54	DISEASES inferred ¹⁵
24	KRT12	Keratin 12	Protein Coding	6.5	DISEASES inferred ¹⁵
25	MPPED2	Metallophosphoesterase Domain Containing 2	Protein Coding	6.49	DISEASES inferred ¹⁵
26	SIX3	SIX Homeobox 3	Protein Coding	6.44	DISEASES inferred ¹⁵
27	FBN1	Fibrillin 1	Protein Coding	6.42	DISEASES inferred ¹⁵
28	FSHB	Follicle Stimulating Hormone Subunit Beta	Protein Coding	6.41	DISEASES inferred ¹⁵
29	PRRG4	Proline Rich And Gla Domain 4	Protein Coding	6.38	DISEASES inferred ¹⁵
30	PITX3	Paired Like Homeodomain 3	Protein Coding	6.37	DISEASES inferred ¹⁵
31	TYRP1	Tyrosinase Related Protein 1	Protein Coding	6.26	DISEASES inferred ¹⁵
32	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	6.23	DISEASES inferred ¹⁵
33	OTX2	Orthodenticle Homeobox 2	Protein Coding	6.23	DISEASES inferred ¹⁵
34	SLC38A8	Solute Carrier Family 38 Member 8	Protein Coding	6.2	DISEASES inferred ¹⁵
35	LUZP2	Leucine Zipper Protein 2	Protein Coding	6.2	DISEASES inferred ¹⁵

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Variations for Iris Disease

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Expression for Iris Disease

Search GEO for disease gene expression data for Iris Disease.

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Pathways for Iris Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	11.41	PITX2 PAX6 FOXC1 ELP4

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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

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Sources for Iris Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia