Moyamoya disease 5

Summary

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). [from OMIM]

Available tests

52 tests are in the database for this condition.

Clinical tests (52 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

ACTA2
166 tests
Also known as: ACTSA, SMDYS, ACTA2
Summary: actin alpha 2, smooth muscle

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the cardiovascular system
- Ascending tubular aorta aneurysm
  Ascending tubular aorta aneurysm
  - MedGen UID: 163631
  - Concept ID: C0856747
  - Finding: Anatomical Abnormality
  Abnormality of the cardiovascular system
  See: Feature record | Search on this feature
- Moyamoya phenomenon
  Moyamoya phenomenon
  - MedGen UID: 868764
  - Concept ID: C4023169
  - Finding: Disease or Syndrome
  Abnormality of the cardiovascular system
  See: Feature record | Search on this feature

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Consumer resources

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