MYMY5
MCID: MYM003
MIFTS: 19

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 58 76 30 13 6 74
Mymy5 58 76
Moyamoya Disease, Type 5 41

Characteristics:

HPO:

33
moyamoya disease 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614042
MeSH 45 D009072
MedGen 43 C3279690
SNOMED-CT via HPO 70 253645007 263681008
UMLS 74 C3279690

Summaries for Moyamoya Disease 5

UniProtKB/Swiss-Prot : 76 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 multisystemic smooth muscle dysfunction syndrome and aortic aneurysm, familial thoracic 6. An important gene associated with Moyamoya Disease 5 is ACTA2 (Actin Alpha 2, Smooth Muscle). Affiliated tissues include smooth muscle, and related phenotypes are moyamoya phenomenon and ascending tubular aorta aneurysm

OMIM : 58 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 multisystemic smooth muscle dysfunction syndrome 9.6 ACTA2 ACTA2-AS1
2 aortic aneurysm, familial thoracic 6 9.5 ACTA2 ACTA2-AS1

Symptoms & Phenotypes for Moyamoya Disease 5

Human phenotypes related to Moyamoya Disease 5:

33
# Description HPO Frequency HPO Source Accession
1 moyamoya phenomenon 33 HP:0011834
2 ascending tubular aorta aneurysm 33 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 30 ACTA2

Anatomical Context for Moyamoya Disease 5

MalaCards organs/tissues related to Moyamoya Disease 5:

42
Smooth Muscle

Publications for Moyamoya Disease 5

Articles related to Moyamoya Disease 5:

# Title Authors Year
1
Analysis of ACTA2 in European Moyamoya disease patients. ( 20970362 )
2011
2
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. ( 20734336 )
2010
3
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. ( 19409525 )
2009
4
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. ( 17994018 )
2007
5
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? ( 14730227 )
2004
6
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? ( 15472996 )
2004
7
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. ( 10532176 )
1999

Variations for Moyamoya Disease 5

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

76
# Symbol AA change Variation ID SNP ID
1 ACTA2 p.Arg179His VAR_064516 rs387906592

ClinVar genetic disease variations for Moyamoya Disease 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA2 NM_001613.2(ACTA2): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs121434527 GRCh37 Chromosome 10, 90699299: 90699299
2 ACTA2 NM_001613.2(ACTA2): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs121434527 GRCh38 Chromosome 10, 88939542: 88939542
3 ACTA2 NM_001613.2(ACTA2): c.772C> T (p.Arg258Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434528 GRCh37 Chromosome 10, 90699300: 90699300
4 ACTA2 NM_001613.2(ACTA2): c.772C> T (p.Arg258Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434528 GRCh38 Chromosome 10, 88939543: 88939543
5 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh37 Chromosome 10, 90701066: 90701066
6 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh38 Chromosome 10, 88941309: 88941309

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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