MYMY2
MCID: MYM004
MIFTS: 24

Moyamoya Disease 2 (MYMY2)

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

Aliases & Classifications for Moyamoya Disease 2

MalaCards integrated aliases for Moyamoya Disease 2:

Name: Moyamoya Disease 2 56 73 29 6 71
Moyamoya Disease 2, Susceptibility to 56 13
Mymy2 56 73
Moyamoya Disease, Type 2 39

Classifications:



External Ids:

OMIM 56 607151
OMIM Phenotypic Series 56 PS252350
MeSH 43 D009072
MedGen 41 C1846689
UMLS 71 C1846689

Summaries for Moyamoya Disease 2

UniProtKB/Swiss-Prot : 73 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 moyamoya disease 1 and 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 : 56 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 moyamoya disease 1 9.8
2 anaplastic ependymoma 9.4 RNF213-AS1 RNF213
3 patent foramen ovale 9.2 RNF213-AS1 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-195 9.23 RNF213
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.23 RNF213-AS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.23 RNF213
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.23 RNF213
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.23 RNF213
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.23 RNF213-AS1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.23 RNF213 RNF213-AS1

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

Articles related to Moyamoya Disease 2:

(show all 15)
# Title Authors PMID Year
1
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. 56 6
22931863 2012
2
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 56 6
22377813 2012
3
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. 56 6
21799892 2011
4
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. 56 6
21048783 2011
5
Autosomal dominant moyamoya disease maps to chromosome 17q25.3. 56
18463369 2008
6
Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. 56
15108216 2004
7
Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease. 56
12599197 2003
8
Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. 56
10754001 2000
9
Preoperative computed tomography perfusion in pediatric moyamoya disease: a single-institution experience. 61
31978885 2020
10
Initial clinical experience with dual-layer detector spectral CT in patients with acute intracerebral haemorrhage: A single-centre pilot study. 61
29112977 2017
11
Efficacy of prophylactic blood pressure lowering according to a standardized postoperative management protocol to prevent symptomatic cerebral hyperperfusion after direct revascularization surgery for moyamoya disease. 61
22456617 2012
12
Significance of focal cerebral hyperperfusion as a cause of transient neurologic deterioration after extracranial-intracranial bypass for moyamoya disease: comparative study with non-moyamoya patients using N-isopropyl-p-[(123)I]iodoamphetamine single-photon emission computed tomography. 61
21221039 2011
13
Efficacy of superficial temporal artery-middle cerebral artery anastomosis with routine postoperative cerebral blood flow measurement during the acute stage in childhood moyamoya disease. 61
18066556 2008
14
[Moyamoya disease associated with persistent primitive trigeminal artery--a case report and review of literature]. 61
3060754 1988
15
Cerebrovascular "Moyamoya" disease. 2. Collateral routes to forebrain via ethmoid sinus and superior nasal meatus. 61
5554209 1971

Variations for Moyamoya Disease 2

ClinVar genetic disease variations for Moyamoya Disease 2:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF213 NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)SNV Likely pathogenic,risk factor 39701 rs397514563 17:78341825-78341825 17:80368025-80368025
2 RNF213 NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)SNV Pathogenic 39700 rs112735431 17:78358945-78358945 17:80385145-80385145
3 RNF213 NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)SNV Likely pathogenic 637049 17:78341847-78341847 17:80368047-80368047
4 RNF213 RNF213, ARG4859LYSSNV risk factor 31064
5 RNF213 NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del)deletion Likely pathogenic 210001 rs797045187 17:78343584-78343586 17:80369784-80369786
6 RNF213 NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn)SNV Likely pathogenic 417846 rs1555675538 17:78341828-78341828 17:80368028-80368028
7 RNF213 NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)SNV Likely pathogenic 585198 rs1568149971 17:78346336-78346336 17:80372536-80372536
8 RNF213 NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter)SNV Conflicting interpretations of pathogenicity 627493 17:78291051-78291051 17:80317251-80317251
9 RNF213 NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr)SNV Uncertain significance 585199 rs1568149984 17:78346345-78346345 17:80372545-80372545
10 RNF213 NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser)SNV Uncertain significance 417854 rs1356925198 17:78355371-78355371 17:80381571-80381571
11 RNF213 NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser)SNV Uncertain significance 417855 rs138223459 17:78355467-78355467 17:80381667-80381667
12 RNF213 NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)SNV Uncertain significance 417841 rs189765261 17:78313329-78313329 17:80339529-80339529
13 RNF213 NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His)SNV Uncertain significance 417843 rs1321156693 17:78337083-78337083 17:80363283-80363283
14 RNF213 NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr)SNV Uncertain significance 417844 rs777402744 17:78338261-78338261 17:80364461-80364461
15 RNF213 NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met)SNV Uncertain significance 417845 rs1181813391 17:78338279-78338279 17:80364479-80364479
16 RNF213 NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg)SNV Uncertain significance 417847 rs1555675572 17:78341882-78341882 17:80368082-80368082
17 RNF213 NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu)SNV Uncertain significance 417848 rs778482758 17:78341886-78341886 17:80368086-80368086
18 RNF213 NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys)SNV Uncertain significance 417849 rs1241745586 17:78341912-78341912 17:80368112-80368112
19 RNF213 NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro)SNV Uncertain significance 417850 rs1555675612 17:78341940-78341940 17:80368140-80368140
20 RNF213 NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)SNV Uncertain significance 417851 rs1555676035 17:78343331-78343331 17:80369531-80369531
21 RNF213 NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val)SNV Uncertain significance 417852 rs1555676146 17:78343607-78343607 17:80369807-80369807
22 RNF213 NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu)SNV Uncertain significance 210002 rs773785078 17:78346494-78346494 17:80372694-80372694
23 RNF213 NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)SNV Uncertain significance 210003 rs148776624 17:78357601-78357601 17:80383801-80383801
24 RNF213 NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Phe4951_Asp4952insGlyLysGlnSerValGlnGln)insertion Uncertain significance 210004 rs797045188 17:78360617-78360618 17:80386817-80386818
25 RNF213 NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile)SNV Uncertain significance 210005 rs201733659 17:78367161-78367161 17:80393361-80393361
26 RNF213 NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del)deletion Uncertain significance 209999 rs797045186 17:78268632-78268634 17:80294833-80294835
27 RNF213 NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln)SNV Uncertain significance 210000 rs766292366 17:78338247-78338247 17:80364447-80364447
28 RNF213 NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr)SNV Uncertain significance 210006 rs797045189 17:78341778-78341778 17:80367978-80367978
29 RNF213 NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val)SNV Uncertain significance 210008 rs746280089 17:78343372-78343372 17:80369572-80369572
30 RNF213 NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu)SNV Uncertain significance 417838 rs1555645286 17:78264440-78264440 17:80290641-80290641
31 RNF213 NM_001256071.3(RNF213):c.397C>A (p.Leu133Met)SNV Likely benign 417836 rs149177904 17:78261749-78261749 17:80287950-80287950
32 RNF213 NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn)SNV Likely benign 417837 rs144769597 17:78261978-78261978 17:80288179-80288179
33 RNF213 NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)SNV Likely benign 210007 rs139265462 17:78341843-78341843 17:80368043-80368043
34 RNF213 NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr)SNV Likely benign 417842 rs545060242 17:78313697-78313697 17:80339897-80339897
35 RNF213 NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr)SNV Benign 417853 rs148731719 17:78350110-78350110 17:80376310-80376310
36 RNF213 NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val)SNV Benign 417839 rs201493500 17:78302164-78302164 17:80328364-80328364
37 RNF213 NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys)SNV Benign 417840 rs147868237 17:78313281-78313281 17:80339481-80339481
38 RNF213 NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg)SNV Benign 417835 rs201620985 17:78261704-78261704 17:80287905-80287905
39 RNF213 NM_001256071.3(RNF213):c.12942+97deldeletion Benign 803469 17:78347055-78347055 17:80373255-80373255

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

73
# 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

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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61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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