Iris disorder

Summary

Iris disorder (MONDO:0002289) is a disease (an umbrella term covering 8 Mondo subtypes) with 2 GWAS associations across 5 studies and 3 clinical trials. A subtype of uveal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes
• GWAS associations: 2
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	iris disorder
Mondo ID	MONDO:0002289
MeSH	D007499
DOID	DOID:240
NCIT	C34737
SNOMED CT	85478004
UMLS	C0022078
MedGen	9556
Anatomy (UBERON)	UBERON:0001769
Is cancer (heuristic)	no

Also known as: disease of iris · disease or disorder of iris · disorder of iris · iris disease · iris disease or disorder · iris disorder

Data availability: 2 GWAS associations (5 studies).

Disease family

This is a subtype of uveal 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

Related subtypes (3): optic choroid disorder, uveitis, uvea neoplasm

Subtypes (8): pupil disorder, ciliary body disorder, iritis, exfoliation syndrome, aniridia, iris neoplasm, anterior segment dysgenesis 3, intraoperative floppy iris syndrome

Genetics & variants

GWAS landscape

2 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs1042602	2e-12	TYR	C	0.15

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475899	Verma A	2024	4,472	441,070	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477786	Verma A	2024	1,118	119,290	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480100	Verma A	2024	1,118	119,290	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481942	Verma A	2024	463	58,885	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436026	Zhou W	2018	405	401,245	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

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

MAF distribution

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

Functional consequences

Consequence	Count
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1042602	11	89178528	C>A	0.371	missense_variant	TYR	2e-12	Tier 1: coding

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04011878	Not specified	COMPLETED	Histopathological Examination of Iris Tissue in Buphthalmos
NCT05759715	Not specified	COMPLETED	Iris Color and Day-Night Changes in the Sympathovagal Ratio
NCT07034651	Not specified	COMPLETED	Electron Microscopic Examination of Iris Tissue in Buphthalmos