Arteritis

Summary

Arteritis (MONDO:0043494) is a disease (an umbrella term covering 7 Mondo subtypes) with 1 GWAS associations across 4 studies and 10 clinical trials. A subtype of arterial disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 7 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	arteritis
Mondo ID	MONDO:0043494
EFO	EFO:0009011
MeSH	D001167
NCIT	C34399
SNOMED CT	52089001
UMLS	C0003860
MedGen	13916
Is cancer (heuristic)	no

Also known as: arterial Inflammation · Arteritides · arteritis · artery inflammation · inflammation of artery · Inflammation, arterial

Data availability: 1 GWAS association (4 studies) · 1 HPO phenotype.

Disease family

This is a subtype of arterial 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 › cardiovascular disorder › vascular disorder › arterial disorder › arteritis

Related subtypes (29): vertebral artery insufficiency, splenic artery aneurysm, basilar artery insufficiency, arteriosclerosis disorder, subclavian artery aneurysm, pulmonary artery choriocarcinoma, pulmonary artery leiomyosarcoma, coronary artery disorder, hypertensive disorder, carotid artery disorder, pulmonary embolism, peripheral arterial disease, hypotensive disorder, large artery stroke, aortic disorder, cervical artery dissection, anterior spinal artery syndrome, fibromuscular dysplasia, retinal arterial tortuosity, Sneddon syndrome, celiac trunk compression syndrome, pediatric arterial ischemic stroke, absence of the pulmonary artery, arterial occlusion, aberrant subclavian artery, anterior spinal artery stroke, pulmonary artery disease, fibromuscular dysplasia, multifocal, carotid web

Subtypes (7): cerebral arteritis, granulomatous angiitis, juvenile temporal arteritis, Takayasu arteritis, microscopic polyangiitis, polyarteritis nodosa, endarteritis

Genetics & variants

GWAS landscape

1 GWAS associations across 4 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs150455640	1e-08	TPMTP3 - MAGED4B	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90482044	Verma A	2024	753	449,684	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651478	Liu TY	2025	246	228,546	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436169	Zhou W	2018	237	400,595	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90044020	Jiang L	2021	113	456,235	A generalized linear mixed model association tool for biobank-scale data.

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	1

MAF distribution

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

Functional consequences

Consequence	Count
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs150455640	X	51997559	T>A,C,G		intergenic_variant	TPMTP3 - MAGED4B	1e-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

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

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE2	2
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01323504	PHASE3	UNKNOWN	Pain and Music Therapy in Patients Suffering Arteritis
NCT00221806	PHASE2	UNKNOWN	Comparison of Two Under Knee Lower Limb Bypass Types:Endothelialised Prosthesis Versus Autologous Vein Graft
NCT03320265	PHASE2	TERMINATED	Phosphorylcholine PC-mAb Effects in Subjects With Elevated Lipoprotein a
NCT05437965	Not specified	RECRUITING	National Multicenter Cohort Registry Study of Rapid rEcurrences of Coronary Unexplained In-stent Restenosis
NCT00221715	Not specified	COMPLETED	Comparison of Two Lower Limb Bypass Types : Prosthesis Versus Autologous Vein
NCT01795456	Not specified	COMPLETED	Carotid Artery Neovascularization in Takayasu’s and Giant Cell Arteritis
NCT02089828	Not specified	UNKNOWN	Purified CD34+ Cells Versus Peripheral Blood Mononuclear Cells in Treatment of Critical Limb Ischemia
NCT02734888	Not specified	COMPLETED	Arterial Inflammation and E-Cigarettes
NCT03543527	Not specified	UNKNOWN	Study of Refractory and/or Relapsing TAkayasu aRTeritis
NCT05720156	Not specified	WITHDRAWN	Immunomodulatory Effects of PCSK9 Inhibition