MCID: FML206
MIFTS: 26

Familial Cerebral Saccular Aneurysm

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Cerebral Saccular Aneurysm

MalaCards integrated aliases for Familial Cerebral Saccular Aneurysm:

Name: Familial Cerebral Saccular Aneurysm 59 73
Familial Intracranial Saccular Aneurysm 59
Familial Berry Aneurysm 59

Characteristics:

Orphanet epidemiological data:

59
familial cerebral saccular aneurysm
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Familial Cerebral Saccular Aneurysm

MalaCards based summary : Familial Cerebral Saccular Aneurysm, also known as familial intracranial saccular aneurysm, is related to intracranial berry aneurysm and intracranial aneurysm. An important gene associated with Familial Cerebral Saccular Aneurysm is ANGPTL6 (Angiopoietin Like 6), and among its related pathways/superpathways are Phospholipase-C Pathway and Wnt / Hedgehog / Notch. Related phenotypes are cerebral berry aneurysm and hypertension

Related Diseases for Familial Cerebral Saccular Aneurysm

Diseases related to Familial Cerebral Saccular Aneurysm via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intracranial berry aneurysm 11.1
2 intracranial aneurysm 9.0 COL3A1 ENG

Symptoms & Phenotypes for Familial Cerebral Saccular Aneurysm

Human phenotypes related to Familial Cerebral Saccular Aneurysm:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral berry aneurysm 59 32 obligate (100%) Obligate (100%) HP:0007029
2 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
3 visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0001123
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001269
6 transient ischemic attack 59 32 frequent (33%) Frequent (79-30%) HP:0002326
7 abnormality of brainstem morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002363
8 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
9 subarachnoid hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002138
10 aortic dissection 59 32 occasional (7.5%) Occasional (29-5%) HP:0002647
11 oculomotor nerve palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012246
12 encephalomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0040197
13 abnormality of circle of willis 59 Frequent (79-30%)
14 intracranial hemorrhage 59 Occasional (29-5%)
15 dilatation of ascending aorta 59 Occasional (29-5%)
16 aortic root aneurysm 32 occasional (7.5%) HP:0002616
17 abnormal circle of willis morphology 32 frequent (33%) HP:0012518

MGI Mouse Phenotypes related to Familial Cerebral Saccular Aneurysm:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 ANGPTL6 COL3A1 ENG TGFBR3
2 muscle MP:0005369 8.8 TGFBR3 COL3A1 ENG

Drugs & Therapeutics for Familial Cerebral Saccular Aneurysm

Search Clinical Trials , NIH Clinical Center for Familial Cerebral Saccular Aneurysm

Genetic Tests for Familial Cerebral Saccular Aneurysm

Anatomical Context for Familial Cerebral Saccular Aneurysm

Publications for Familial Cerebral Saccular Aneurysm

Variations for Familial Cerebral Saccular Aneurysm

Expression for Familial Cerebral Saccular Aneurysm

Search GEO for disease gene expression data for Familial Cerebral Saccular Aneurysm.

Pathways for Familial Cerebral Saccular Aneurysm

Pathways related to Familial Cerebral Saccular Aneurysm according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 ANGPTL6 COL3A1 TGFBR3
2 11.63 ENG TGFBR3
3 11.24 ENG TGFBR3
4 11.11 ENG TGFBR3
5 10.72 ENG TGFBR3
6 10.02 ENG TGFBR3

GO Terms for Familial Cerebral Saccular Aneurysm

Cellular components related to Familial Cerebral Saccular Aneurysm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.96 ENG TGFBR3
2 receptor complex GO:0043235 8.62 ENG TGFBR3

Biological processes related to Familial Cerebral Saccular Aneurysm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.26 COL3A1 ENG
2 angiogenesis GO:0001525 9.16 ANGPTL6 ENG
3 transforming growth factor beta receptor signaling pathway GO:0007179 8.96 COL3A1 TGFBR3
4 BMP signaling pathway GO:0030509 8.62 ENG TGFBR3

Molecular functions related to Familial Cerebral Saccular Aneurysm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.32 COL3A1 TGFBR3
2 glycosaminoglycan binding GO:0005539 9.26 ENG TGFBR3
3 transforming growth factor beta binding GO:0050431 9.16 ENG TGFBR3
4 activin binding GO:0048185 8.96 ENG TGFBR3
5 type II transforming growth factor beta receptor binding GO:0005114 8.62 ENG TGFBR3

Sources for Familial Cerebral Saccular Aneurysm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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