MCID: MYM004
MIFTS: 16

Moyamoya Disease 2

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

Aliases & Classifications for Moyamoya Disease 2

MalaCards integrated aliases for Moyamoya Disease 2:

Name: Moyamoya Disease 2 57 75 29 6 73
Moyamoya Disease 2, Susceptibility to 57 13
Mymy2 57 75
Moyamoya Disease, Type 2 40

Classifications:



External Ids:

OMIM 57 607151
MedGen 42 C1846689
MeSH 44 D009072
UMLS 73 C1846689

Summaries for Moyamoya Disease 2

UniProtKB/Swiss-Prot : 75 Moyamoya disease 2: 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 2, also known as moyamoya disease 2, susceptibility to, is related to anaplastic ependymoma. An important gene associated with Moyamoya Disease 2 is RNF213 (Ring Finger Protein 213). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 57 Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. 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 (summary by Kamada et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). (607151)

Related Diseases for Moyamoya Disease 2

Diseases in the Moyamoya Disease 1 family:

Moyamoya Disease 2 Moyamoya Disease 3
Moyamoya Disease 5

Diseases related to Moyamoya Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anaplastic ependymoma 9.0 LOC100294362 RNF213

Symptoms & Phenotypes for Moyamoya Disease 2

Clinical features from OMIM:

607151

GenomeRNAi Phenotypes related to Moyamoya Disease 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.28 LOC100294362
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.28 LOC100294362
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.28 LOC100294362
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.28 RNF213
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.28 RNF213
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.28 RNF213
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.28 LOC100294362
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.28 LOC100294362 RNF213

Drugs & Therapeutics for Moyamoya Disease 2

Search Clinical Trials , NIH Clinical Center for Moyamoya Disease 2

Genetic Tests for Moyamoya Disease 2

Genetic tests related to Moyamoya Disease 2:

# Genetic test Affiliating Genes
1 Moyamoya Disease 2 29 RNF213

Anatomical Context for Moyamoya Disease 2

Publications for Moyamoya Disease 2

Variations for Moyamoya Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Moyamoya Disease 2:

75
# Symbol AA change Variation ID SNP ID
1 RNF213 p.Asp4013Asn VAR_067024
2 RNF213 p.Ala4399Thr VAR_067026 rs148731719
3 RNF213 p.Arg4810Lys VAR_067030

ClinVar genetic disease variations for Moyamoya Disease 2:

6
(show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNF213 RNF213, ARG4859LYS single nucleotide variant risk factor
2 RNF213 NM_001256071.2(RNF213): c.14429G> A (p.Arg4810Lys) single nucleotide variant Likely pathogenic,risk factor rs112735431 GRCh37 Chromosome 17, 78358945: 78358945
3 RNF213 NM_001256071.2(RNF213): c.14429G> A (p.Arg4810Lys) single nucleotide variant Likely pathogenic,risk factor rs112735431 GRCh38 Chromosome 17, 80385145: 80385145
4 RNF213 NM_001256071.2(RNF213): c.12037G> A (p.Asp4013Asn) single nucleotide variant Likely pathogenic,risk factor rs397514563 GRCh37 Chromosome 17, 78341825: 78341825
5 RNF213 NM_001256071.2(RNF213): c.12037G> A (p.Asp4013Asn) single nucleotide variant Likely pathogenic,risk factor rs397514563 GRCh38 Chromosome 17, 80368025: 80368025
6 RNF213 NM_001256071.2(RNF213): c.1587_1589delCGC (p.Ala531del) deletion Uncertain significance rs797045186 GRCh38 Chromosome 17, 80294835: 80294837
7 RNF213 NM_001256071.2(RNF213): c.1587_1589delCGC (p.Ala531del) deletion Uncertain significance rs797045186 GRCh37 Chromosome 17, 78268634: 78268636
8 RNF213 NM_001256071.2(RNF213): c.11765G> A (p.Arg3922Gln) single nucleotide variant Uncertain significance rs766292366 GRCh37 Chromosome 17, 78338247: 78338247
9 RNF213 NM_001256071.2(RNF213): c.11765G> A (p.Arg3922Gln) single nucleotide variant Uncertain significance rs766292366 GRCh38 Chromosome 17, 80364447: 80364447
10 RNF213 NM_001256071.2(RNF213): c.11990G> A (p.Cys3997Tyr) single nucleotide variant Uncertain significance rs797045189 GRCh37 Chromosome 17, 78341778: 78341778
11 RNF213 NM_001256071.2(RNF213): c.11990G> A (p.Cys3997Tyr) single nucleotide variant Uncertain significance rs797045189 GRCh38 Chromosome 17, 80367978: 80367978
12 RNF213 NM_001256071.2(RNF213): c.12055C> T (p.Arg4019Cys) single nucleotide variant Uncertain significance rs139265462 GRCh37 Chromosome 17, 78341843: 78341843
13 RNF213 NM_001256071.2(RNF213): c.12055C> T (p.Arg4019Cys) single nucleotide variant Uncertain significance rs139265462 GRCh38 Chromosome 17, 80368043: 80368043
14 RNF213 NM_001256071.2(RNF213): c.12226A> G (p.Ile4076Val) single nucleotide variant Uncertain significance rs746280089 GRCh38 Chromosome 17, 80369572: 80369572
15 RNF213 NM_001256071.2(RNF213): c.12226A> G (p.Ile4076Val) single nucleotide variant Uncertain significance rs746280089 GRCh37 Chromosome 17, 78343372: 78343372
16 RNF213 NM_001256071.2(RNF213): c.12343_12345delAAA (p.Lys4115del) deletion Likely pathogenic rs797045187 GRCh37 Chromosome 17, 78343585: 78343587
17 RNF213 NM_001256071.2(RNF213): c.12343_12345delAAA (p.Lys4115del) deletion Likely pathogenic rs797045187 GRCh38 Chromosome 17, 80369785: 80369787
18 RNF213 NM_001256071.2(RNF213): c.12711C> G (p.Asp4237Glu) single nucleotide variant Uncertain significance rs773785078 GRCh38 Chromosome 17, 80372694: 80372694
19 RNF213 NM_001256071.2(RNF213): c.12711C> G (p.Asp4237Glu) single nucleotide variant Uncertain significance rs773785078 GRCh37 Chromosome 17, 78346494: 78346494
20 RNF213 NM_001256071.2(RNF213): c.14195A> C (p.Lys4732Thr) single nucleotide variant Uncertain significance rs148776624 GRCh38 Chromosome 17, 80383801: 80383801
21 RNF213 NM_001256071.2(RNF213): c.14195A> C (p.Lys4732Thr) single nucleotide variant Uncertain significance rs148776624 GRCh37 Chromosome 17, 78357601: 78357601
22 RNF213 NM_001256071.2(RNF213) insertion Uncertain significance rs797045188 GRCh38 Chromosome 17, 80386819: 80386820
23 RNF213 NM_001256071.2(RNF213) insertion Uncertain significance rs797045188 GRCh37 Chromosome 17, 78360619: 78360620
24 RNF213 NM_001256071.2(RNF213): c.15487G> A (p.Val5163Ile) single nucleotide variant Uncertain significance rs201733659 GRCh38 Chromosome 17, 80393361: 80393361
25 RNF213 NM_001256071.2(RNF213): c.15487G> A (p.Val5163Ile) single nucleotide variant Uncertain significance rs201733659 GRCh37 Chromosome 17, 78367161: 78367161
26 RNF213 NM_001256071.2(RNF213): c.352T> C (p.Cys118Arg) single nucleotide variant Uncertain significance rs201620985 GRCh38 Chromosome 17, 80287905: 80287905
27 RNF213 NM_001256071.2(RNF213): c.352T> C (p.Cys118Arg) single nucleotide variant Uncertain significance rs201620985 GRCh37 Chromosome 17, 78261704: 78261704
28 RNF213 NM_001256071.2(RNF213): c.397C> A (p.Leu133Met) single nucleotide variant Uncertain significance rs149177904 GRCh38 Chromosome 17, 80287950: 80287950
29 RNF213 NM_001256071.2(RNF213): c.397C> A (p.Leu133Met) single nucleotide variant Uncertain significance rs149177904 GRCh37 Chromosome 17, 78261749: 78261749
30 RNF213 NM_001256071.2(RNF213): c.626T> A (p.Ile209Asn) single nucleotide variant Uncertain significance rs144769597 GRCh37 Chromosome 17, 78261978: 78261978
31 RNF213 NM_001256071.2(RNF213): c.626T> A (p.Ile209Asn) single nucleotide variant Uncertain significance rs144769597 GRCh38 Chromosome 17, 80288179: 80288179
32 RNF213 NM_001256071.2(RNF213): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 78264440: 78264440
33 RNF213 NM_001256071.2(RNF213): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 80290641: 80290641
34 RNF213 NM_001256071.2(RNF213): c.3404C> T (p.Ala1135Val) single nucleotide variant Uncertain significance rs201493500 GRCh37 Chromosome 17, 78302164: 78302164
35 RNF213 NM_001256071.2(RNF213): c.3404C> T (p.Ala1135Val) single nucleotide variant Uncertain significance rs201493500 GRCh38 Chromosome 17, 80328364: 80328364
36 RNF213 NM_001256071.2(RNF213): c.5114C> A (p.Thr1705Lys) single nucleotide variant Uncertain significance rs147868237 GRCh38 Chromosome 17, 80339481: 80339481
37 RNF213 NM_001256071.2(RNF213): c.5114C> A (p.Thr1705Lys) single nucleotide variant Uncertain significance rs147868237 GRCh37 Chromosome 17, 78313281: 78313281
38 RNF213 NM_001256071.2(RNF213): c.5162C> T (p.Pro1721Leu) single nucleotide variant Uncertain significance rs189765261 GRCh38 Chromosome 17, 80339529: 80339529
39 RNF213 NM_001256071.2(RNF213): c.5162C> T (p.Pro1721Leu) single nucleotide variant Uncertain significance rs189765261 GRCh37 Chromosome 17, 78313329: 78313329
40 RNF213 NM_001256071.2(RNF213): c.5530G> A (p.Ala1844Thr) single nucleotide variant Uncertain significance rs545060242 GRCh37 Chromosome 17, 78313697: 78313697
41 RNF213 NM_001256071.2(RNF213): c.5530G> A (p.Ala1844Thr) single nucleotide variant Uncertain significance rs545060242 GRCh38 Chromosome 17, 80339897: 80339897
42 RNF213 NM_001256071.2(RNF213): c.11537G> A (p.Arg3846His) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 80363283: 80363283
43 RNF213 NM_001256071.2(RNF213): c.11537G> A (p.Arg3846His) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 78337083: 78337083
44 RNF213 NM_001256071.2(RNF213): c.11779G> A (p.Ala3927Thr) single nucleotide variant Uncertain significance rs777402744 GRCh38 Chromosome 17, 80364461: 80364461
45 RNF213 NM_001256071.2(RNF213): c.11779G> A (p.Ala3927Thr) single nucleotide variant Uncertain significance rs777402744 GRCh37 Chromosome 17, 78338261: 78338261
46 RNF213 NM_001256071.2(RNF213): c.11797G> A (p.Val3933Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 80364479: 80364479
47 RNF213 NM_001256071.2(RNF213): c.11797G> A (p.Val3933Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 78338279: 78338279
48 RNF213 NM_001256071.2(RNF213): c.12040C> A (p.His4014Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 80368028: 80368028
49 RNF213 NM_001256071.2(RNF213): c.12040C> A (p.His4014Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 78341828: 78341828
50 RNF213 NM_001256071.2(RNF213): c.12094T> C (p.Cys4032Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 78341882: 78341882

Expression for Moyamoya Disease 2

Search GEO for disease gene expression data for Moyamoya Disease 2.

Pathways for Moyamoya Disease 2

GO Terms for Moyamoya Disease 2

Sources for Moyamoya Disease 2

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