MOYAMOYA DISEASE 5

General Information (adopted from Orphanet):

Synonyms, Signs: MYMY5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614042
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011834) Moyamoya phenomenon 4 / 7739
2
(HPO:0005111) Dilatation of the ascending aorta 3 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Guo et al. (2009) reported 3 unrelated families segregating both thoracic aneurysms with dissection (TAAD) and moyamoya disease. Onset of stroke in these families ranged from 5 to 46 years. Some patients had isolated moyamoya, some had isolated ...
Molecular genetics OMIM In affected members of 3 unrelated families with moyamoya disease, Guo et al. (2009) identified 3 different heterozygous mutations in the ACTA2 gene (see, e.g., R258H, 102620.0002 and R258C, 102620.0003). Several members of all families also had TAAD, ...