Moyamoya Disease 5 (MYMY5)

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OMIM 57 614042 MedGen 42 C3279690 MeSH 44 D009072

SNOMED-CT via HPO 69 263681008 253645007 UMLS 73 C3279690

UniProtKB/Swiss-Prot : ⁷⁵ Moyamoya disease 5: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. 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. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults.

MalaCards based summary : Moyamoya Disease 5, also known as mymy5, is related to multisystemic smooth muscle dysfunction syndrome and aortic aneurysm, familial thoracic 6. An important gene associated with Moyamoya Disease 5 is ACTA2 (Actin, Alpha 2, Smooth Muscle, Aorta). Affiliated tissues include smooth muscle, and related phenotypes are moyamoya phenomenon and ascending tubular aorta aneurysm

OMIM : ⁵⁷ Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). (614042)

Clinical features from OMIM:

614042

Search Clinical Trials , NIH Clinical Center for Moyamoya Disease 5

Search GEO for disease gene expression data for Moyamoya Disease 5.