MYMY5
MCID: MYM003
MIFTS: 24

Moyamoya Disease 5 (MYMY5)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Moyamoya Disease 5

MalaCards integrated aliases for Moyamoya Disease 5:

Name: Moyamoya Disease 5 56 73 29 13 6 71
Mymy5 56 73
Moyamoya Disease, Type 5 39

Characteristics:

HPO:

31
moyamoya disease 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614042
OMIM Phenotypic Series 56 PS252350
MeSH 43 D009072
MedGen 41 C3279690
SNOMED-CT via HPO 68 253645007 263681008
UMLS 71 C3279690

Summaries for Moyamoya Disease 5

UniProtKB/Swiss-Prot : 73 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 moyamoya disease 1 and multisystemic smooth muscle dysfunction syndrome. An important gene associated with Moyamoya Disease 5 is ACTA2 (Actin Alpha 2, Smooth Muscle). Affiliated tissues include smooth muscle, brain and lung, and related phenotypes are moyamoya phenomenon and ascending tubular aorta aneurysm

OMIM : 56 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)

Related Diseases for Moyamoya Disease 5

Diseases in the Moyamoya Disease 1 family:

Moyamoya Disease 2 Moyamoya Disease 3
Moyamoya Disease 5

Diseases related to Moyamoya Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 moyamoya disease 1 9.9
2 multisystemic smooth muscle dysfunction syndrome 9.4 ACTA2-AS1 ACTA2
3 aortic aneurysm, familial thoracic 6 9.2 ACTA2-AS1 ACTA2

Symptoms & Phenotypes for Moyamoya Disease 5

Human phenotypes related to Moyamoya Disease 5:

31
# Description HPO Frequency HPO Source Accession
1 moyamoya phenomenon 31 HP:0011834
2 ascending tubular aorta aneurysm 31 HP:0004970

Clinical features from OMIM:

614042

Drugs & Therapeutics for Moyamoya Disease 5

Search Clinical Trials , NIH Clinical Center for Moyamoya Disease 5

Genetic Tests for Moyamoya Disease 5

Genetic tests related to Moyamoya Disease 5:

# Genetic test Affiliating Genes
1 Moyamoya Disease 5 29

Anatomical Context for Moyamoya Disease 5

MalaCards organs/tissues related to Moyamoya Disease 5:

40
Smooth Muscle, Brain, Lung

Publications for Moyamoya Disease 5

Articles related to Moyamoya Disease 5:

(show all 13)
# Title Authors PMID Year
1
Analysis of ACTA2 in European Moyamoya disease patients. 56 6
20970362 2011
2
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 56 6
19409525 2009
3
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 6
24998021 2014
4
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 6
20734336 2010
5
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 6
17994018 2007
6
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? 6
15472996 2004
7
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? 6
14730227 2004
8
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. 6
10532176 1999
9
Noninvasive Evaluation of CBF and Perfusion Delay of Moyamoya Disease Using Arterial Spin-Labeling MRI with Multiple Postlabeling Delays: Comparison with 15O-Gas PET and DSC-MRI. 61
28209582 2017
10
Risk factors and outcomes of childhood ischemic stroke in Taiwan. 61
17573220 2008
11
Clinical features of moyamoya disease in sibling relations under 15 years of age. 61
9728245 1998
12
[Moyamoya disease-analysis of 9 cases and review of the literature in Taiwan]. 61
2005673 1991
13
[Diseases showing abnormal vascular net-work at the base of brain, commonly found among Japanese (Cerebrovascular "Moyamoya" disease). 5. "Ethmoidal Moyamoya"]. 61
5468003 1970

Variations for Moyamoya Disease 5

ClinVar genetic disease variations for Moyamoya Disease 5:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTA2 NM_001613.4(ACTA2):c.773G>A (p.Arg258His)SNV Pathogenic 18277 rs121434527 10:90699299-90699299 10:88939542-88939542
2 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His)SNV Pathogenic 29598 rs387906592 10:90701066-90701066 10:88941309-88941309
3 ACTA2 NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)SNV Pathogenic/Likely pathogenic 18278 rs121434528 10:90699300-90699300 10:88939543-88939543

UniProtKB/Swiss-Prot genetic disease variations for Moyamoya Disease 5:

73
# Symbol AA change Variation ID SNP ID
1 ACTA2 p.Arg179His VAR_064516 rs387906592

Expression for Moyamoya Disease 5

Search GEO for disease gene expression data for Moyamoya Disease 5.

Pathways for Moyamoya Disease 5

GO Terms for Moyamoya Disease 5

Sources for Moyamoya Disease 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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