INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 147820
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0004945) Extracranial internal carotid artery dissection 1 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
 (OMIM) Spontaneous extracranial internal carotid artery dissection 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM - Exclusion Studies

Grond-Ginsbach et al. (2002) searched for mutations in the COL5A2 gene (120190) in 10 patients with spontaneous cervical artery dissections. Although they identified mutations in 3 of the patients, none was thought to ...