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Moyamoya disease 2(MYMY2)

MedGen UID:
339584
Concept ID:
C1846689
Disease or Syndrome
Synonyms: MOYAMOYA DISEASE 2, SUSCEPTIBILITY TO; MYMY2
 
Gene (location): RNF213 (17q25.3)
 
Monarch Initiative: MONDO:0011784
OMIM®: 607151

Definition

Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by Kamada et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). [from OMIM]

Additional description

From MedlinePlus Genetics
Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated.

Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese.

Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves' disease. These individuals are said to have moyamoya syndrome.  https://medlineplus.gov/genetics/condition/moyamoya-disease

Clinical features

From HPO
Transient ischemic attack
MedGen UID:
853
Concept ID:
C0007787
Disease or Syndrome
A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
Moyamoya phenomenon
MedGen UID:
868764
Concept ID:
C4023169
Disease or Syndrome
A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.

Professional guidelines

PubMed

Singh R, McLelland MD, De La Peña NM, Pollock JR, Catapano JS, Srinivasan VM, Rahmani R, Lawton MT
Neurosurg Rev 2022 Jun;45(3):1977-1985. Epub 2022 Feb 12 doi: 10.1007/s10143-022-01748-w. PMID: 35150354
Zhang X, Xiao W, Zhang Q, Xia D, Gao P, Su J, Yang H, Gao X, Ni W, Lei Y, Gu Y
Curr Neuropharmacol 2022;20(2):292-308. doi: 10.2174/1570159X19666210716114016. PMID: 34279201Free PMC Article
Acker G, Fekonja L, Vajkoczy P
Stroke 2018 Feb;49(2):476-482. Epub 2018 Jan 17 doi: 10.1161/STROKEAHA.117.018563. PMID: 29343587

Recent clinical studies

Etiology

Jiao Y, Ceccato GHW, Borba LAB, Han H
World Neurosurg 2024 Jul;187:149. Epub 2024 Mar 6 doi: 10.1016/j.wneu.2024.02.141. PMID: 38453006
Song X, Li Z
Orphanet J Rare Dis 2021 Nov 4;16(1):471. doi: 10.1186/s13023-021-02102-x. PMID: 34736485Free PMC Article
Cho SB, Baek HJ, Ryu KH, Moon JI, Choi BH, Park SE, Bae K, Jeon KN, Kim DW
PLoS One 2017;12(11):e0186024. Epub 2017 Nov 7 doi: 10.1371/journal.pone.0186024. PMID: 29112977Free PMC Article
Fujimura M, Shimizu H, Inoue T, Mugikura S, Saito A, Tominaga T
Neurosurgery 2011 Apr;68(4):957-64; discussion 964-5. doi: 10.1227/NEU.0b013e318208f1da. PMID: 21221039
Fujimura M, Kaneta T, Tominaga T
Childs Nerv Syst 2008 Jul;24(7):827-32. Epub 2007 Dec 8 doi: 10.1007/s00381-007-0551-y. PMID: 18066556

Diagnosis

Jiao Y, Ceccato GHW, Borba LAB, Han H
World Neurosurg 2024 Jul;187:149. Epub 2024 Mar 6 doi: 10.1016/j.wneu.2024.02.141. PMID: 38453006
Song X, Li Z
Orphanet J Rare Dis 2021 Nov 4;16(1):471. doi: 10.1186/s13023-021-02102-x. PMID: 34736485Free PMC Article
Fujimura M, Inoue T, Shimizu H, Saito A, Mugikura S, Tominaga T
Cerebrovasc Dis 2012;33(5):436-45. Epub 2012 Mar 28 doi: 10.1159/000336765. PMID: 22456617
Fujimura M, Shimizu H, Inoue T, Mugikura S, Saito A, Tominaga T
Neurosurgery 2011 Apr;68(4):957-64; discussion 964-5. doi: 10.1227/NEU.0b013e318208f1da. PMID: 21221039

Therapy

Fujimura M, Inoue T, Shimizu H, Saito A, Mugikura S, Tominaga T
Cerebrovasc Dis 2012;33(5):436-45. Epub 2012 Mar 28 doi: 10.1159/000336765. PMID: 22456617
Fujimura M, Shimizu H, Inoue T, Mugikura S, Saito A, Tominaga T
Neurosurgery 2011 Apr;68(4):957-64; discussion 964-5. doi: 10.1227/NEU.0b013e318208f1da. PMID: 21221039
Fujimura M, Kaneta T, Tominaga T
Childs Nerv Syst 2008 Jul;24(7):827-32. Epub 2007 Dec 8 doi: 10.1007/s00381-007-0551-y. PMID: 18066556

Prognosis

Jiao Y, Ceccato GHW, Borba LAB, Han H
World Neurosurg 2024 Jul;187:149. Epub 2024 Mar 6 doi: 10.1016/j.wneu.2024.02.141. PMID: 38453006
Song X, Li Z
Orphanet J Rare Dis 2021 Nov 4;16(1):471. doi: 10.1186/s13023-021-02102-x. PMID: 34736485Free PMC Article
Fujimura M, Kaneta T, Tominaga T
Childs Nerv Syst 2008 Jul;24(7):827-32. Epub 2007 Dec 8 doi: 10.1007/s00381-007-0551-y. PMID: 18066556

Recent systematic reviews

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