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MYMY6
MCID: MYM015
MIFTS: 20
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Moyamoya Disease 6 with or Without Achalasia (MYMY6)
Categories:
Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Moyamoya Disease 6 with or Without Achalasia:
Name: Moyamoya Disease 6 with or Without Achalasia
57
Characteristics:Orphanet epidemiological data:59
moyamoya disease with early-onset achalasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset of achalasia in infancy or early childhood some patients do not develop stroke HPO:32
moyamoya disease 6 with or without achalasia:
Onset and clinical course variable expressivity Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Gastrointestinal diseases
ICD10:
34
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UniProtKB/Swiss-Prot
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75
Moyamoya disease 6 with achalasia: A form of Moyamoya disease, 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. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood.
MalaCards based summary : Moyamoya Disease 6 with or Without Achalasia, is also known as moyamoya disease 6 with achalasia. An important gene associated with Moyamoya Disease 6 with or Without Achalasia is GUCY1A1 (Guanylate Cyclase 1 Soluble Subunit Alpha 1). Related phenotypes are hypertension and thrombocytopenia OMIM : 57 Moyamoya disease-6 is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). (615750) |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615750Human phenotypes related to Moyamoya Disease 6 with or Without Achalasia:59 32 (show all 14)
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Genes related to Moyamoya Disease 6 with or Without Achalasia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Moyamoya Disease 6 with or Without Achalasia:6 (show all 14)
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Search
GEO
for disease gene expression data for Moyamoya Disease 6 with or Without Achalasia.
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