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Familial cerebral saccular aneurysm
11 OMIM references -
3 associated genes
37 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary hemorrhagic telangiectasia
Generalized juvenile polyposis / juvenile polyposis coli
Acrogeria
Ehlers-Danlos syndrome, vascular type
Familial abdominal aortic aneurysm
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Camurati-Engelmann disease
Cystic fibrosis
Hereditary nonpolyposis colon cancer
Marfan syndrome type 2
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Peters anomaly
Ovarian adenocarcinoma
Multiple keratoacanthoma, Ferguson-Smith type
Heritable pulmonary arterial hypertension
Fibrodysplasia ossificans progressiva
20p12.3 microdeletion syndrome
Brachydactyly type A2
Situs ambiguus
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
CARASIL
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Congenital glaucoma
Juvenile glaucoma
Spondylocarpotarsal synostosis
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Combined oxidative phosphorylation defect type 4
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Synonym(s):
- Familial berry aneurysm
- Familial intracranial saccular aneurysm
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
11 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL3A1 P02461120180
ENG P17813131195
TGFBR3 Q03167600742
No signs/symptoms info available.