Cerebral arteriovenous malformation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO, INCLUDED BAVM Cerebral arteriovenous shunt Intracranial arteriovenous malformation Cerebral arteriovenous fistula |
| Number of Symptoms | 5 |
| OrphanetNr: | 46724 |
| OMIM Id: |
108010
|
| ICD-10: |
Q28.2 |
| UMLs: |
C0007772 |
| MeSH: |
D002538 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 6 of 100 000 [Orphanet] |
| Inheritance: |
No data available [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Arteriovenous fistula
-Rare circulatory system disease -Rare developmental defect during embryogenesis Genetic neurovascular malformation -Rare genetic disease Neurovascular malformation -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0100761) | Visceral angiomatosis | Very frequent [Orphanet] | 21 / 7739 | |||
|
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(HPO:0100784) | Peripheral arteriovenous fistula | Very frequent [Orphanet] | 9 / 7739 | |||
|
|
(HPO:0002408) | Cerebral arteriovenous malformation | 7 / 7739 | ||||
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(HPO:0100659) | Abnormality of the cerebral vasculature | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Cerebral arteriovenous malformations are considered to be distinct from cerebral cavernous malformations (116860), which are venous and usually arteriographically 'silent' (Rigamonti, 1993). Snead et al. (1979) reported cerebral arteriovenous malformations in 3 sibs with the same ... |
| Molecular genetics OMIM |
Among 180 patients with brain arteriovenous malformations (BAVM), Pawlikowska et al. (2004) found an association between a promoter polymorphism in the IL6 gene (-174G/C; 147620.0001) and intracranial hemorrhage. Patients who were homozygous for the G allele had an ... |