MCID: FML206
MIFTS: 24

Familial Cerebral Saccular Aneurysm

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Cerebral Saccular Aneurysm

MalaCards integrated aliases for Familial Cerebral Saccular Aneurysm:

Name: Familial Cerebral Saccular Aneurysm 58 70
Familial Intracranial Saccular Aneurysm 58
Familial Berry Aneurysm 58

Characteristics:

Orphanet epidemiological data:

58
familial cerebral saccular aneurysm
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
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 cerebral arterial disease. 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 11.2
2 cerebral arterial disease 9.7 THSD1 COL3A1
3 aneurysm 9.5 THSD1 TGFBR3 COL3A1
4 brittle bone disorder 9.4 ENG COL3A1
5 intracranial aneurysm 9.3 THSD1 ENG COL3A1

Graphical network of the top 20 diseases related to Familial Cerebral Saccular Aneurysm:



Diseases related to Familial Cerebral Saccular Aneurysm

Symptoms & Phenotypes for Familial Cerebral Saccular Aneurysm

Human phenotypes related to Familial Cerebral Saccular Aneurysm:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral berry aneurysm 58 31 obligate (100%) Obligate (100%) HP:0007029
2 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
3 transient ischemic attack 58 31 frequent (33%) Frequent (79-30%) HP:0002326
4 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
5 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
6 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
7 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
8 seizure 31 frequent (33%) HP:0001250
9 abnormal circle of willis morphology 31 frequent (33%) HP:0012518
10 aortic dissection 58 31 occasional (7.5%) Occasional (29-5%) HP:0002647
11 subarachnoid hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002138
12 encephalomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0040197
13 oculomotor nerve palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012246
14 aortic root aneurysm 31 occasional (7.5%) HP:0002616
15 seizures 58 Frequent (79-30%)
16 intracranial hemorrhage 58 Occasional (29-5%)
17 dilatation of ascending aorta 58 Occasional (29-5%)
18 abnormality of circle of willis 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Familial Cerebral Saccular Aneurysm:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.02 ANGPTL6 COL3A1 ENG TGFBR3 THSD1

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 TGFBR3 COL3A1 ANGPTL6
2 11.63 TGFBR3 ENG
3 11.24 TGFBR3 ENG
4 11.11 TGFBR3 ENG
5 10.72 TGFBR3 ENG
6 10.02 TGFBR3 ENG

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 extracellular region GO:0005576 9.26 THSD1 TGFBR3 COL3A1 ANGPTL6
2 extracellular space GO:0005615 8.92 TGFBR3 ENG COL3A1 ANGPTL6

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.46 TGFBR3 ENG
2 wound healing GO:0042060 9.43 ENG COL3A1
3 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.4 TGFBR3 ENG
4 BMP signaling pathway GO:0030509 9.37 TGFBR3 ENG
5 vasculogenesis GO:0001570 9.32 TGFBR3 ENG
6 epithelial to mesenchymal transition GO:0001837 9.26 TGFBR3 ENG
7 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.16 TGFBR3 ENG
8 angiogenesis GO:0001525 9.13 TGFBR3 ENG ANGPTL6
9 transforming growth factor beta receptor signaling pathway GO:0007179 8.8 TGFBR3 ENG COL3A1

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

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 9.37 TGFBR3 ENG
2 glycosaminoglycan binding GO:0005539 9.32 TGFBR3 ENG
3 transforming growth factor beta binding GO:0050431 9.26 TGFBR3 ENG
4 activin binding GO:0048185 9.16 TGFBR3 ENG
5 transforming growth factor beta-activated receptor activity GO:0005024 8.96 TGFBR3 ENG
6 type II transforming growth factor beta receptor binding GO:0005114 8.62 TGFBR3 ENG

Sources for Familial Cerebral Saccular Aneurysm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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