Dural sinus malformation

Summary

Dural sinus malformation (MONDO:0019972) is a disease. A subtype of arteriovenous hemangioma/malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 48

Clinical features

Signs & symptoms

Clinical features (HPO)

48 HPO clinical features (Orphanet curated; top 48 by frequency):

HPO ID	Term	Frequency
HP:0000238	Hydrocephalus	Frequent (30-79%)
HP:0001977	Abnormal thrombosis	Frequent (30-79%)
HP:0004947	Arteriovenous fistula	Frequent (30-79%)
HP:0008629	Pulsatile tinnitus	Frequent (30-79%)
HP:0030724	Central nervous system cyst	Frequent (30-79%)
HP:0000256	Macrocephaly	Occasional (5-29%)
HP:0000501	Glaucoma	Occasional (5-29%)
HP:0000504	Abnormality of vision	Occasional (5-29%)
HP:0000520	Proptosis	Occasional (5-29%)
HP:0000572	Visual loss	Occasional (5-29%)
HP:0000932	Abnormality of the posterior cranial fossa	Occasional (5-29%)
HP:0001085	Papilledema	Occasional (5-29%)
HP:0001268	Mental deterioration	Occasional (5-29%)
HP:0001297	Stroke	Occasional (5-29%)
HP:0001317	Abnormal cerebellum morphology	Occasional (5-29%)
HP:0001324	Muscle weakness	Occasional (5-29%)
HP:0001342	Cerebral hemorrhage	Occasional (5-29%)
HP:0002017	Nausea and vomiting	Occasional (5-29%)
HP:0002138	Subarachnoid hemorrhage	Occasional (5-29%)
HP:0002170	Intracranial hemorrhage	Occasional (5-29%)
HP:0002196	Myelopathy	Occasional (5-29%)
HP:0002315	Headache	Occasional (5-29%)
HP:0002370	Poor coordination	Occasional (5-29%)
HP:0002463	Language impairment	Occasional (5-29%)
HP:0002516	Increased intracranial pressure	Occasional (5-29%)
HP:0003474	Somatic sensory dysfunction	Occasional (5-29%)
HP:0007906	Ocular hypertension	Occasional (5-29%)
HP:0011342	Mild global developmental delay	Occasional (5-29%)
HP:0011695	Cerebellar hemorrhage	Occasional (5-29%)
HP:0012375	Chemosis	Occasional (5-29%)
HP:0031157	Carotid cavernous fistula	Occasional (5-29%)
HP:0100309	Subdural hemorrhage	Occasional (5-29%)
HP:3000043	Abnormal facial vein morphology	Occasional (5-29%)
HP:0000651	Diplopia	Very rare (<1-4%)
HP:0000726	Dementia	Very rare (<1-4%)
HP:0000741	Apathy	Very rare (<1-4%)
HP:0001250	Seizure	Very rare (<1-4%)
HP:0001251	Ataxia	Very rare (<1-4%)
HP:0001269	Hemiparesis	Very rare (<1-4%)
HP:0001300	Parkinsonism	Very rare (<1-4%)
HP:0002167	Abnormality of speech or vocalization	Very rare (<1-4%)
HP:0002181	Cerebral edema	Very rare (<1-4%)
HP:0002273	Tetraparesis	Very rare (<1-4%)
HP:0002617	Dilatation	Very rare (<1-4%)
HP:0006824	Cranial nerve paralysis	Very rare (<1-4%)
HP:0007333	Hypoplasia of the frontal lobes	Very rare (<1-4%)
HP:0011343	Moderate global developmental delay	Very rare (<1-4%)
HP:0030766	Ear pain	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	dural sinus malformation
Mondo ID	MONDO:0019972
Orphanet	97339
ICD-11	454640405
UMLS	C3839148
MedGen	824993
GARD	0019368
Is cancer (heuristic)	no

Also known as: cranial dural arteriovenous fistula · cranial dural arteriovenous malformations

Disease family

This is a subtype of arteriovenous hemangioma/malformation. 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: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › benign blood vessel neoplasm › hemangioma › arteriovenous hemangioma/malformation › dural sinus malformation

Related subtypes (6): arteriovenous malformations of the brain, vein of Galen aneurysm, cerebrofacial arteriovenous metameric syndrome, facial arteriovenous malformation, Cobb syndrome, Foix-Alajouanine syndrome

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: 0.