Intracranial thrombosis

Summary

Intracranial thrombosis (MONDO:0002907) is a disease with 2 GWAS associations across 1 studies and 2 clinical trials. A subtype of thrombotic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 2
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	intracranial thrombosis
Mondo ID	MONDO:0002907
MeSH	D020767
DOID	DOID:4193
SNOMED CT	71444005
UMLS	C0752143
MedGen	199820
Is cancer (heuristic)	no

Data availability: 2 GWAS associations (1 study).

Disease family

This is a subtype of thrombotic disease. 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 › thrombotic disease › intracranial thrombosis

Related subtypes (7): marantic endocarditis, portal vein thrombosis, coronary thrombosis, heparin-induced thrombocytopenia, acquired purpura fulminans, isolated splenic vein thrombosis, isolated mesenteric vein thrombosis

Subtypes (2): intracranial sinus thrombosis, carotid artery thrombosis

Genetics & variants

GWAS landscape

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

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs8176645	9e-24	ABO	?	2.01
rs56810541	2e-12	F11	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90038454	Ken-Dror G	2021	882	1,205	Genome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis.

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	2

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs8176645	9	133273682	A>G,T	0.05	intron_variant	ABO	9e-24	Tier 4: intronic/intergenic
rs56810541	4	186279396	A>T	0.05	intron_variant	F11	2e-12	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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00555932	Not specified	COMPLETED	Modern Ultrasound Techniques in the Evaluation of Cerebral Venous Sinuses in Neonates
NCT04139486	Not specified	COMPLETED	adaptatiVe Endovascular Strategy to the CloT MRI in Large Intracranial Vessel Occlusion