MCID: MYM003
MIFTS: 17

Moyamoya Disease 5

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

Aliases & Classifications for Moyamoya Disease 5

MalaCards integrated aliases for Moyamoya Disease 5:

Name: Moyamoya Disease 5 57 75 29 13 6 73
Mymy5 57 75
Moyamoya Disease, Type 5 40

Characteristics:

HPO:

32
moyamoya disease 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614042
MedGen 42 C3279690
MeSH 44 D009072
SNOMED-CT via HPO 69 263681008 253645007
UMLS 73 C3279690

Summaries for Moyamoya Disease 5

UniProtKB/Swiss-Prot : 75 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, Aorta). Related phenotypes are ascending tubular aorta aneurysm and moyamoya phenomenon

OMIM : 57 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 9.2 ACTA2 ACTA2-AS1
2 aortic aneurysm, familial thoracic 6 9.0 ACTA2 ACTA2-AS1

Symptoms & Phenotypes for Moyamoya Disease 5

Clinical features from OMIM:

614042

Human phenotypes related to Moyamoya Disease 5:

32
# Description HPO Frequency HPO Source Accession
1 ascending tubular aorta aneurysm 32 HP:0004970
2 moyamoya phenomenon 32 HP:0011834

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 ACTA2

Anatomical Context for Moyamoya Disease 5

Publications for Moyamoya Disease 5

Variations for Moyamoya Disease 5

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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