Aneurysm, intracranial berry, 1

Preferred Label : Aneurysm, intracranial berry, 1;

Symbol : ANIB1;

CISMeF acronym : ANIB1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Aneurysmal subarachnoid hemorrhage, familial;

Description : Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a 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 (review by Krischek and Inoue, 2006). - Genetic Heterogeneity of Intracranial Berry Aneurysm Intracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2. Other mapped loci for intracranial berry aneurysm include ANIB2 (608542) on chromosome 19q13, ANIB3 (609122) on 1p36.13-p34.3, ANIB4 (610213) on 5p15.2-14.3, ANIB5 (300870) on Xp22, ANIB6 (611892) on 9p21, ANIB7 (612161) on 11q24-q25, ANIB8 (612162) on 14q23, ANIB9 (612586) on 2q,;

Inheritance : Autosomal dominant;

Prefixed ID : %105800;

Details

Origin ID

105800;

UMLS CUI

C1862932;

Automatic exact mappings (from CISMeF team)
- Acquired aneurysmal subarachnoid hemorrhage [ORDO Disease]
- Familial cerebral saccular aneurysm [ORDO Disease]
- aneurysm, intracranial berry 1 [HGNC gene]
- intracranial berry aneurysm [DO Concept]
Currated CISMeF NLP mapping
- aneurysm, intracranial berry, 1 [MeSH concept]
- aneurysm, intracranial berry, 1 [MeSH Supplementary Concept]
DO Cross reference
- intracranial berry aneurysm [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral aneurysm, often multiple [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Intracranial hemorrhage [HPO term]
ORDO concept(s)
- Familial cerebral saccular aneurysm [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- aneurysm, intracranial berry, 1 [MeSH Supplementary Concept]
- aneurysm, intracranial berry, 1 [MeSH concept]

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