Moyamoya disease 1

Preferred Label : Moyamoya disease 1;

Symbol : MYMY1;

CISMeF acronym : MYMY; MYMY1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Moyamoya disease; Spontaneous occlusion of the circle of willis; MYMY;

Description : Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults (summary by Suzuki, 1986). - Genetic Heterogeneity of Moyamoya Disease Susceptibility to moyamoya disease-2 (MYMY2; 607151) is caused by variation in the RNF213 gene (613768) on chromosome 17q25. Moyamoya disease-5 (MYMY5; 614042) is caused by mutation in the ACTA2 gene (102620) on chromosome 10q23.3. Loci for the disorder have been mapped to chromosome 3p (MYMY1) and chromosome 8q23 (MYMY3; 608796). See also MYMY4 (300845), an X-linked recessive syndromic disorder characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism.;

Inheritance : Autosomal recessive;

Prefixed ID : %252350;

Details

Origin ID

252350;

UMLS CUI

C2931384;

Broader ORDO disease(s)
- Moyamoya disease [ORDO Disease]
Currated CISMeF NLP mapping
- Moyamoya disease [ICD-10 Sub-category]
- Moyamoya disease [DO Concept]
- Moyamoya disease [ICD-11 More detail]
- Moyamoya disease [ICD-9 code]
- Moyamoya disease [ICD-10 Sub-category (who)]
- Moyamoya disease [MedDRA Preferred Term]
- Moyamoya disease [Radlex concept]
- Moyamoya disease [ORDO Disease]
- Moyamoya disease (disorder) [SNOMED CT concept]
- Moyamoya disease 1 [MeSH concept]
- moyamoya disease [Radlex concept]
- moyamoya disease [MeSH Descriptor]
- moyamoya disease [MeSH concept]
- moyamoya disease [SNOMED Notion]
- moyamoya disease 1 [MeSH Supplementary Concept]
DO Cross reference
- Moyamoya disease [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Carotid artery occlusion [HPO term]
- Inflammatory arteriopathy [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- Moyamoya disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Moyamoya disease 1 [MeSH concept]
- moyamoya disease 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Moyamoya Disease [NCIt concept]
- Moyamoya disease [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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