MYMY5
MCID: MYM003
MIFTS: 18
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Moyamoya Disease 5 (MYMY5)
Categories:
Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Moyamoya Disease 5:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Cardiovascular diseases |
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) |
Diseases in the Moyamoya Disease 1 family:
Diseases related to Moyamoya Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Moyamoya Disease 5:32
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MalaCards organs/tissues related to Moyamoya Disease 5:41
Smooth Muscle
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UniProtKB/Swiss-Prot genetic disease variations for Moyamoya Disease 5:75
ClinVar genetic disease variations for Moyamoya Disease 5:6
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Search
GEO
for disease gene expression data for Moyamoya Disease 5.
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