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Aneurysm, intracranial berry type 1(ANIB1)

MedGen UID:
354864
Concept ID:
C1862932
Disease or Syndrome
Synonym: ANEURYSMAL SUBARACHNOID HEMORRHAGE, FAMILIAL
 
Monarch Initiative: MONDO:0007111
OMIM®: 105800

Definition

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 (summary 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, ANIB10 (612587) on 8q, and ANIB11 (614252) on 8p22. ANIB12 (618734) is caused by mutation in the THSD1 gene (616821). [from OMIM]

Clinical features

From HPO
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Hemorrhage occurring within the skull.
Dilatation of the cerebral artery
MedGen UID:
1386760
Concept ID:
C4476540
Anatomical Abnormality
The presence of a localized dilatation or ballooning of a cerebral artery.

Recent clinical studies

Etiology

Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article
Bojanowski MW, Weil AG, McLaughlin N, Chaalala C, Magro E, Fournier JY
J Neurosurg 2015 Nov;123(5):1156-65. Epub 2015 May 22 doi: 10.3171/2014.11.JNS141004. PMID: 26053352
Gunnarsson T, Klurfan P, terBrugge KG, Willinsky RA
Can J Neurol Sci 2007 Feb;34(1):38-46. doi: 10.1017/s0317167100018710. PMID: 17352345
Baroldi G, Di Pasquale G, Silver MD, Pinelli G, Lusa AM, Fineschi V
J Heart Lung Transplant 1997 Oct;16(10):994-1000. PMID: 9361241

Diagnosis

Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article
Davis NL, Horan PM, Romich T, Roman JL, Lacy JM, Catanese CA
Am J Forensic Med Pathol 2010 Dec;31(4):330-4. doi: 10.1097/PAF.0b013e3181f69c9d. PMID: 21119327
Kroon M, Holzapfel GA
J Theor Biol 2009 Mar 7;257(1):73-83. Epub 2008 Nov 5 doi: 10.1016/j.jtbi.2008.10.021. PMID: 19027028
Ball MJ
Can Med Assoc J 1975 Jan 11;112(1):78-9. PMID: 1109729Free PMC Article

Therapy

Gunnarsson T, Klurfan P, terBrugge KG, Willinsky RA
Can J Neurol Sci 2007 Feb;34(1):38-46. doi: 10.1017/s0317167100018710. PMID: 17352345

Prognosis

Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article
Bojanowski MW, Weil AG, McLaughlin N, Chaalala C, Magro E, Fournier JY
J Neurosurg 2015 Nov;123(5):1156-65. Epub 2015 May 22 doi: 10.3171/2014.11.JNS141004. PMID: 26053352
Kroon M, Holzapfel GA
J Theor Biol 2009 Mar 7;257(1):73-83. Epub 2008 Nov 5 doi: 10.1016/j.jtbi.2008.10.021. PMID: 19027028
Baroldi G, Di Pasquale G, Silver MD, Pinelli G, Lusa AM, Fineschi V
J Heart Lung Transplant 1997 Oct;16(10):994-1000. PMID: 9361241

Clinical prediction guides

Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article
Kroon M, Holzapfel GA
J Theor Biol 2009 Mar 7;257(1):73-83. Epub 2008 Nov 5 doi: 10.1016/j.jtbi.2008.10.021. PMID: 19027028
Baroldi G, Di Pasquale G, Silver MD, Pinelli G, Lusa AM, Fineschi V
J Heart Lung Transplant 1997 Oct;16(10):994-1000. PMID: 9361241

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG228, Subarachnoid haemorrhage caused by a ruptured aneurysm: diagnosis and management, 2022

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