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

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Aliases & Classifications for Iris Disease

MalaCards integrated aliases for Iris Disease:

Name: Iris Disease ¹² ¹⁵

Iris Diseases ⁴⁴ ⁷²

Classifications:

MalaCards categories:
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:240

MeSH ⁴⁴ D007499

NCIt ⁵⁰ C34737

SNOMED-CT ⁶⁸ 85478004

UMLS ⁷² C0022078

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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...

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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 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:

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Symptoms & Phenotypes for Iris Disease

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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	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

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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:

⁴¹

Eye, Retina, 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]. ³⁸	Orsi C...Grippo F	31293135	2019
2	Human iris three-dimensional imaging at micron resolution by a micro-plenoptic camera. ³⁸	Chen H...Sick V	29082081	2017
3	YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17. ³⁸	Nair KS...John SW	27483353	2016
4	Determining immune components necessary for progression of pigment dispersing disease to glaucoma in DBA/2J mice. ³⁸	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. ³⁸	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. ³⁸	Porciatti V...Feuer WJ	21203347	2010
7	Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes. ³⁸	Trantow CM...Anderson MG	20617205	2010
8	A Thy1-CFP DBA/2J mouse line with cyan fluorescent protein expression in retinal ganglion cells. ³⁸	Raymond ID...Brecha NC	19930759	2009
9	GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. ³⁸	Anderson MG...John SW	18402690	2008
10	Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. ³⁸	Howell GR...John SW	17608931	2007
11	Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. ³⁸	Anderson MG...John SW	16827931	2006
12	Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. ³⁸	Anderson MG...John SW	11743578	2002

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Genes for Iris Disease

Genes related to Iris Disease (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PAX6	Paired Box 6	Protein Coding	19.9	DISEASES inferred ¹⁵
2	LOXL1	Lysyl Oxidase Like 1	Protein Coding	19.09	DISEASES inferred ¹⁵
3	PEX19	Peroxisomal Biogenesis Factor 19	Protein Coding	17.74	DISEASES inferred ¹⁵
4	CRYAA	Crystallin Alpha A	Protein Coding	17.64	DISEASES inferred ¹⁵ ¹⁵
5	WT1	WT1 Transcription Factor	Protein Coding	17.03	DISEASES inferred ¹⁵
6	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	16.98	DISEASES inferred ¹⁵
7	FOXC1	Forkhead Box C1	Protein Coding	16.57	DISEASES inferred ¹⁵
8	FSHB	Follicle Stimulating Hormone Subunit Beta	Protein Coding	16.55	DISEASES inferred ¹⁵
9	PITX2	Paired Like Homeodomain 2	Protein Coding	16.54	DISEASES inferred ¹⁵
10	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	16.4	DISEASES inferred ¹⁵
11	FOXE3	Forkhead Box E3	Protein Coding	15.72	DISEASES inferred ¹⁵
12	SLC38A8	Solute Carrier Family 38 Member 8	Protein Coding	15.62	DISEASES inferred ¹⁵
13	CYP1B1	Cytochrome P450 Family 1 Subfamily B Member 1	Protein Coding	15.6	DISEASES inferred ¹⁵
14	IMMP1L	Inner Mitochondrial Membrane Peptidase Subunit 1	Protein Coding	6.54	DISEASES inferred ¹⁵
15	DCDC1	Doublecortin Domain Containing 1	Protein Coding	6.46	DISEASES inferred ¹⁵
16	TLCD5	TLC Domain Containing 5	Protein Coding	6.24	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:

(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

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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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia