ANIB12
MCID: ANR050
MIFTS: 15

Aneurysm, Intracranial Berry, 12 (ANIB12)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aneurysm, Intracranial Berry, 12

MalaCards integrated aliases for Aneurysm, Intracranial Berry, 12:

Name: Aneurysm, Intracranial Berry, 12 57 73 29 6
Anib12 57 73

Classifications:



External Ids:

OMIM® 57 618734
OMIM Phenotypic Series 57 PS105800
MeSH 44 D002532
MedGen 41 CN263139

Summaries for Aneurysm, Intracranial Berry, 12

UniProtKB/Swiss-Prot : 73 Aneurysm, intracranial berry, 12: A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage.

MalaCards based summary : Aneurysm, Intracranial Berry, 12, is also known as anib12. An important gene associated with Aneurysm, Intracranial Berry, 12 is THSD1 (Thrombospondin Type 1 Domain Containing 1).

OMIM® : 57 Rupture of an intracranial aneurysm (IA), an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage (SAH), a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). (618734) (Updated 05-Mar-2021)

Related Diseases for Aneurysm, Intracranial Berry, 12

Symptoms & Phenotypes for Aneurysm, Intracranial Berry, 12

Clinical features from OMIM®:

618734 (Updated 05-Mar-2021)

Drugs & Therapeutics for Aneurysm, Intracranial Berry, 12

Search Clinical Trials , NIH Clinical Center for Aneurysm, Intracranial Berry, 12

Genetic Tests for Aneurysm, Intracranial Berry, 12

Genetic tests related to Aneurysm, Intracranial Berry, 12:

# Genetic test Affiliating Genes
1 Aneurysm, Intracranial Berry, 12 29 THSD1

Anatomical Context for Aneurysm, Intracranial Berry, 12

Publications for Aneurysm, Intracranial Berry, 12

Articles related to Aneurysm, Intracranial Berry, 12:

# Title Authors PMID Year
1
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. 57
27895300 2016
2
The genetics of intracranial aneurysms. 57
16736093 2006

Variations for Aneurysm, Intracranial Berry, 12

ClinVar genetic disease variations for Aneurysm, Intracranial Berry, 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THSD1 NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter) SNV Pathogenic 804297 rs1594095223 13:52952757-52952757 13:52378622-52378622

UniProtKB/Swiss-Prot genetic disease variations for Aneurysm, Intracranial Berry, 12:

73
# Symbol AA change Variation ID SNP ID
1 THSD1 p.Leu5Phe VAR_083714 rs138038878
2 THSD1 p.Pro639Leu VAR_083719 rs102401452

Expression for Aneurysm, Intracranial Berry, 12

Search GEO for disease gene expression data for Aneurysm, Intracranial Berry, 12.

Pathways for Aneurysm, Intracranial Berry, 12

GO Terms for Aneurysm, Intracranial Berry, 12

Sources for Aneurysm, Intracranial Berry, 12

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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