MYMY2
MCID: MYM004
MIFTS: 22

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 57 74 29 6 72
Moyamoya Disease 2, Susceptibility to 57 13
Mymy2 57 74
Moyamoya Disease, Type 2 40

Classifications:



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MeSH 44 D009072
MedGen 42 C1846689
UMLS 72 C1846689

Summaries for Moyamoya Disease 2

UniProtKB/Swiss-Prot : 74 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. An important gene associated with Moyamoya Disease 2 is RNF213 (Ring Finger Protein 213).

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 moyamoya disease 1 9.8

Symptoms & Phenotypes for Moyamoya Disease 2

Clinical features from OMIM:

607151

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 14)
# 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. 8 71
22931863 2012
2
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 8 71
22377813 2012
3
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. 8 71
21799892 2011
4
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. 8 71
21048783 2011
5
Autosomal dominant moyamoya disease maps to chromosome 17q25.3. 8
18463369 2008
6
Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. 8
15108216 2004
7
Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease. 8
12599197 2003
8
Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. 8
10754001 2000
9
Initial clinical experience with dual-layer detector spectral CT in patients with acute intracerebral haemorrhage: A single-centre pilot study. 38
29112977 2017
10
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. 38
22456617 2012
11
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. 38
21221039 2011
12
Efficacy of superficial temporal artery-middle cerebral artery anastomosis with routine postoperative cerebral blood flow measurement during the acute stage in childhood moyamoya disease. 38
18066556 2008
13
[Moyamoya disease associated with persistent primitive trigeminal artery--a case report and review of literature]. 38
3060754 1988
14
Cerebrovascular "Moyamoya" disease. 2. Collateral routes to forebrain via ethmoid sinus and superior nasal meatus. 38
5554209 1971

Variations for Moyamoya Disease 2

ClinVar genetic disease variations for Moyamoya Disease 2:

6 (show all 37)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RNF213 NM_001256071.3(RNF213): c.14429G> A (p.Arg4810Lys) single nucleotide variant Likely pathogenic,risk factor rs112735431 17:78358945-78358945 17:80385145-80385145
2 RNF213 NM_001256071.3(RNF213): c.12037G> A (p.Asp4013Asn) single nucleotide variant Likely pathogenic,risk factor rs397514563 17:78341825-78341825 17:80368025-80368025
3 RNF213 NM_001256071.3(RNF213): c.12343_12345del (p.Lys4115del) deletion Likely pathogenic rs797045187 17:78343585-78343587 17:80369785-80369787
4 RNF213 NM_001256071.3(RNF213): c.12553A> G (p.Lys4185Glu) single nucleotide variant Likely pathogenic 17:78346336-78346336 17:80372536-80372536
5 RNF213 RNF213, ARG4859LYS single nucleotide variant risk factor
6 RNF213 NM_001256071.3(RNF213): c.12059G> T (p.Cys4020Phe) single nucleotide variant Likely pathogenic 17:78341847-78341847 17:80368047-80368047
7 RNF213 NM_001256071.3(RNF213): c.12040C> A (p.His4014Asn) single nucleotide variant Likely pathogenic rs1555675538 17:78341828-78341828 17:80368028-80368028
8 RNF213 NM_001256071.3(RNF213): c.12094T> C (p.Cys4032Arg) single nucleotide variant Uncertain significance rs1555675572 17:78341882-78341882 17:80368082-80368082
9 RNF213 NM_001256071.3(RNF213): c.12098C> T (p.Pro4033Leu) single nucleotide variant Uncertain significance rs778482758 17:78341886-78341886 17:80368086-80368086
10 RNF213 NM_001256071.3(RNF213): c.12124G> A (p.Glu4042Lys) single nucleotide variant Uncertain significance rs1241745586 17:78341912-78341912 17:80368112-80368112
11 RNF213 NM_001256071.3(RNF213): c.12152A> C (p.His4051Pro) single nucleotide variant Uncertain significance rs1555675612 17:78341940-78341940 17:80368140-80368140
12 RNF213 NM_001256071.3(RNF213): c.12185G> A (p.Arg4062Gln) single nucleotide variant Uncertain significance rs1555676035 17:78343331-78343331 17:80369531-80369531
13 RNF213 NM_001256071.3(RNF213): c.12365A> T (p.Asp4122Val) single nucleotide variant Uncertain significance rs1555676146 17:78343607-78343607 17:80369807-80369807
14 RNF213 NM_001256071.3(RNF213): c.13195G> A (p.Ala4399Thr) single nucleotide variant Uncertain significance rs148731719 17:78350110-78350110 17:80376310-80376310
15 RNF213 NM_001256071.3(RNF213): c.13822C> T (p.Pro4608Ser) single nucleotide variant Uncertain significance rs1356925198 17:78355371-78355371 17:80381571-80381571
16 RNF213 NM_001256071.3(RNF213): c.13918G> A (p.Gly4640Ser) single nucleotide variant Uncertain significance rs138223459 17:78355467-78355467 17:80381667-80381667
17 RNF213 NM_001256071.3(RNF213): c.352T> C (p.Cys118Arg) single nucleotide variant Uncertain significance rs201620985 17:78261704-78261704 17:80287905-80287905
18 RNF213 NM_001256071.3(RNF213): c.397C> A (p.Leu133Met) single nucleotide variant Uncertain significance rs149177904 17:78261749-78261749 17:80287950-80287950
19 RNF213 NM_001256071.3(RNF213): c.626T> A (p.Ile209Asn) single nucleotide variant Uncertain significance rs144769597 17:78261978-78261978 17:80288179-80288179
20 RNF213 NM_001256071.3(RNF213): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance rs1555645286 17:78264440-78264440 17:80290641-80290641
21 RNF213 NM_001256071.3(RNF213): c.3404C> T (p.Ala1135Val) single nucleotide variant Uncertain significance rs201493500 17:78302164-78302164 17:80328364-80328364
22 RNF213 NM_001256071.3(RNF213): c.5114C> A (p.Thr1705Lys) single nucleotide variant Uncertain significance rs147868237 17:78313281-78313281 17:80339481-80339481
23 RNF213 NM_001256071.3(RNF213): c.5162C> T (p.Pro1721Leu) single nucleotide variant Uncertain significance rs189765261 17:78313329-78313329 17:80339529-80339529
24 RNF213 NM_001256071.3(RNF213): c.5530G> A (p.Ala1844Thr) single nucleotide variant Uncertain significance rs545060242 17:78313697-78313697 17:80339897-80339897
25 RNF213 NM_001256071.3(RNF213): c.11537G> A (p.Arg3846His) single nucleotide variant Uncertain significance rs1321156693 17:78337083-78337083 17:80363283-80363283
26 RNF213 NM_001256071.3(RNF213): c.11779G> A (p.Ala3927Thr) single nucleotide variant Uncertain significance rs777402744 17:78338261-78338261 17:80364461-80364461
27 RNF213 NM_001256071.3(RNF213): c.11797G> A (p.Val3933Met) single nucleotide variant Uncertain significance rs1181813391 17:78338279-78338279 17:80364479-80364479
28 RNF213 NM_001256071.3(RNF213): c.12562G> A (p.Ala4188Thr) single nucleotide variant Uncertain significance 17:78346345-78346345 17:80372545-80372545
29 RNF213 NM_001256071.3(RNF213): c.12711C> G (p.Asp4237Glu) single nucleotide variant Uncertain significance rs773785078 17:78346494-78346494 17:80372694-80372694
30 RNF213 NM_001256071.3(RNF213): c.14195A> C (p.Lys4732Thr) single nucleotide variant Uncertain significance rs148776624 17:78357601-78357601 17:80383801-80383801
31 RNF213 NM_001256071.3(RNF213) insertion Uncertain significance rs797045188 17:78360619-78360620 17:80386819-80386820
32 RNF213 NM_001256071.3(RNF213): c.15487G> A (p.Val5163Ile) single nucleotide variant Uncertain significance rs201733659 17:78367161-78367161 17:80393361-80393361
33 RNF213 NM_001256071.3(RNF213): c.1587_1589del (p.Ala531del) deletion Uncertain significance rs797045186 17:78268634-78268636 17:80294835-80294837
34 RNF213 NM_001256071.3(RNF213): c.11765G> A (p.Arg3922Gln) single nucleotide variant Uncertain significance rs766292366 17:78338247-78338247 17:80364447-80364447
35 RNF213 NM_001256071.3(RNF213): c.11990G> A (p.Cys3997Tyr) single nucleotide variant Uncertain significance rs797045189 17:78341778-78341778 17:80367978-80367978
36 RNF213 NM_001256071.3(RNF213): c.12055C> T (p.Arg4019Cys) single nucleotide variant Uncertain significance rs139265462 17:78341843-78341843 17:80368043-80368043
37 RNF213 NM_001256071.3(RNF213): c.12226A> G (p.Ile4076Val) single nucleotide variant Uncertain significance rs746280089 17:78343372-78343372 17:80369572-80369572

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

74
# 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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73 UMLS via Orphanet
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