Primary central nervous system vasculitis

Summary

Primary central nervous system vasculitis (MONDO:0015374) is a disease and 1 clinical trial. A subtype of central nervous system vasculitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (United States) [Orphanet-validated]
• Phenotypes (HPO): 30
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.24	United States	Validated

Signs & symptoms

Clinical features (HPO)

30 HPO clinical features (Orphanet curated; top 30 by frequency):

HPO ID	Term	Frequency
HP:0005318	Cerebral vasculitis	Very frequent (80-99%)
HP:0001269	Hemiparesis	Frequent (30-79%)
HP:0001297	Stroke	Frequent (30-79%)
HP:0002017	Nausea and vomiting	Frequent (30-79%)
HP:0002315	Headache	Frequent (30-79%)
HP:0002326	Transient ischemic attack	Frequent (30-79%)
HP:0002381	Aphasia	Frequent (30-79%)
HP:0003470	Paralysis	Frequent (30-79%)
HP:0007052	Multifocal cerebral white matter abnormalities	Frequent (30-79%)
HP:0007236	Recurrent subcortical infarcts	Frequent (30-79%)
HP:0012229	CSF pleocytosis	Frequent (30-79%)
HP:0025456	Abnormal CSF protein level	Frequent (30-79%)
HP:0100543	Cognitive impairment	Frequent (30-79%)
HP:0000622	Blurred vision	Occasional (5-29%)
HP:0000651	Diplopia	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001251	Ataxia	Occasional (5-29%)
HP:0001260	Dysarthria	Occasional (5-29%)
HP:0001945	Fever	Occasional (5-29%)
HP:0002170	Intracranial hemorrhage	Occasional (5-29%)
HP:0002273	Tetraparesis	Occasional (5-29%)
HP:0002385	Paraparesis	Occasional (5-29%)
HP:0007663	Reduced visual acuity	Occasional (5-29%)
HP:0010534	Transient global amnesia	Occasional (5-29%)
HP:0030588	Abnormal visual field test	Occasional (5-29%)
HP:0000538	Pseudopapilledema	Very rare (<1-4%)
HP:0001300	Parkinsonism	Very rare (<1-4%)
HP:0002321	Vertigo	Very rare (<1-4%)
HP:0025142	Constitutional symptom	Very rare (<1-4%)
HP:0100576	Amaurosis fugax	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	primary central nervous system vasculitis
Mondo ID	MONDO:0015374
MeSH	C537295
Orphanet	140989
ICD-11	2130738127
UMLS	C2930862
MedGen	419271
GARD	0008703
Is cancer (heuristic)	no

Also known as: granulomatous angiitis of the central nervous system · isolated angiitis of the central nervous system · PACNS · PCNSV · primary angiitis of the central nervous system · primary central nervous system vasculitis · primary CNS vasculitis · primary vasculitis of the central nervous system

Disease family

This is a subtype of central nervous system vasculitis. 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 › nervous system disorder › central nervous system disorder › central nervous system vasculitis › primary central nervous system vasculitis

Related subtypes (4): cerebral arteritis, central nervous system AIDS arteritis, temporal arteritis, benign angiitis of the central nervous system

Subtypes (1): rapidly progressive primary central nervous system vasculitis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02006134	Not specified	UNKNOWN	Pediatric Vasculitis Initiative