Iritis

Summary

Iritis (MONDO:0006814) is a disease with 8 GWAS associations across 2 studies and 6 clinical trials. Top therapeutic interventions include daclizumab, diclofenac, and prednisolone acetate. A subtype of iris disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 8
• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	iritis
Mondo ID	MONDO:0006814
EFO	EFO:1000997
MeSH	D007500
DOID	DOID:1406
NCIT	C50621
SNOMED CT	65074000
UMLS	C0022081
MedGen	7160
GARD	0024477
MedDRA	10022955
Is cancer (heuristic)	no

Also known as: inflammation of iris · iris inflammation · iritis · iritis (disease)

Data availability: 8 GWAS associations (2 studies) · 1 HPO phenotype.

Disease family

This is a subtype of iris disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › uveal disorder › iris disorder › iritis

Related subtypes (7): pupil disorder, ciliary body disorder, exfoliation syndrome, aniridia, iris neoplasm, anterior segment dysgenesis 3, intraoperative floppy iris syndrome

Subtypes (1): iridocyclitis

Genetics & variants

GWAS landscape

8 GWAS associations across 2 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs146683910	5e-191	HLA-B - RNU6-283P	T	1.83
rs748670681	5e-15	TNRC18	T	0.71
rs10037212	3e-09	CAST	A	0.18
rs190497944	5e-09	MICA - LINC01149	C	27.14
rs10760763	7e-09	ACTG1P19 - GAPDHP26	A	0.85
rs549331938	7e-09	SELENOV - EID2B	G	1.15
chr11:75315166	9e-09		G	5.49
rs11153469	2e-08	HDAC2-AS2, HS3ST5	G	0.21

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90018871	Sakaue S	2021	2,616	478,126	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90018651	Sakaue S	2021	110	175,543	A cross-population atlas of genetic associations for 220 human phenotypes.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	8

MAF distribution

Bucket	Variants
common (>=0.05)	4
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	3

Functional consequences

Consequence	Count
intron_variant	5
intergenic_variant	2
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs146683910	6	31368220	C>T	0.05	intron_variant	HLA-B - RNU6-283P	5e-191	Tier 4: intronic/intergenic
rs748670681	7	5397122	C>T		intron_variant	TNRC18	5e-15	Tier 4: intronic/intergenic
rs10037212	5	96749072	C>A	0.05	intron_variant	CAST	3e-09	Tier 4: intronic/intergenic
rs190497944	6	31438530	G>C	0.001	intron_variant	MICA - LINC01149	5e-09	Tier 4: intronic/intergenic
rs10760763	9	100794522	T>A,C,G	0.343	intergenic_variant	ACTG1P19 - GAPDHP26	7e-09	Tier 4: intronic/intergenic
rs549331938	19	39525774	C>A,G,T		intergenic_variant	SELENOV - EID2B	7e-09	Tier 4: intronic/intergenic
chr11:75315166							9e-09	Tier 4: intronic/intergenic
rs11153469	6	114170947	A>G	0.05	intron_variant	HDAC2-AS2, HS3ST5	2e-08	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

4 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Cortisone Acetate	Approved (phase 4)
Dexamethasone	Approved (phase 4)
Prednisolone	Approved (phase 4)
Prednisone	Approved (phase 4)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Prednisolone Acetate.

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00130637	PHASE2	COMPLETED	Human Anti-Tac (Daclizumab) to Treat Juvenile Idiopathic Arthritis (JIA)-Associated Uveitis
NCT00001734	Not specified	COMPLETED	Screening for NEI Clinical Studies
NCT00006188	Not specified	COMPLETED	Evaluation and Treatment of Patients With Inflammatory Eye Diseases
NCT00476593	Not specified	COMPLETED	Retinal OCT and (mfERG) Related to Age, Sex, and the Use of Anti-inflammatory Medications
NCT01154010	Not specified	COMPLETED	PEMF: an Adjunct Therapy for Anterior Uveitis
NCT02416128	Not specified	WITHDRAWN	Use of Topical Euphrasia, a Homeopathic Remedy in Ophthalmology

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DACLIZUMAB	4	1
DICLOFENAC	4	1
PREDNISOLONE ACETATE	4	1