A new horizon of moyamoya disease and associated health risks explored through RNF213

Table 1 Single gene diseases showing co-morbidity with moyamoya angiopathy

Biological processes	Molecular pathology	Disease	References		Gene
Signal transduction	Ras signal pathway	Type I neurofibromatosis	[98–101]	NF1	[117, 118]
		Noonan syndrome	[102, 103]	BRAF	[119]
				KRAS
				PTPNII
				RAFI
				SOSII
		Costello syndrome	[104, 105]	HRAS	[120]
	Notch signal pathway	Alagille syndrome	[106, 107]	JAG1	[72]
				NOTCH2
	Wnt signal pathway	Robinow syndrome	[108, 109]	ROR2	[121]
Chromatin remodeling Cell cycle, DNA repair	Cell cycle	Schimke immuno-osteo dysplasia	[110, 111]	SMARCAL1	[122]
		MOPDII	[112, 113]	PCNT	[112]
		Seckel syndrome	[114]	ATR	[123]
				RBBP8
				CENPJ
				CEP63
				NIN
DNA repair Angiogenesis	BRCA1 complex BRISC complex	X-linked moyamoya syndrome	[88]	BRCC3	ibid. [88]
Inflammation	Inflammation activated thrombosis	Sneddon’s syndrome	[66–69]	CECR1	[124]
	Excessive Type I interferon production	Aicardi–Goutieres syndrome	[65]	SAMHD1	[65]
				TRX1
				ACP5
Vascular smooth muscle cell dysfunction	eNOS production	Moyamoya and achalasia syndrome	[71]	GUCY1A3	ibid. [71]
	Excess proliferation	Thoracic aortic aneurysm and dissection	[70]	ACTA2	ibid. [70]
Coagulopathy	Thrombosis	Sickel cell disease	[73]	β-globin gene
		Protein S	[115, 116]	Protein S
		Protein C	[74, 75]	Protein C
		Thrombotic Thrombocytopeic Purpura	[76]	ADAMTS13

ISSN: 1347-4715