Congenital porto-sinusoidal vascular disorder-induced portal hypertension: A comprehensive review based on a classic clinical case

Table 1 Genetic mutations associated with isolated porto-sinusoidal vascular disease

Genes	Chromosome	Mutation	Transmission	Ref.
KCNN3	1	c.1348G>C	Autosomal dominant	[33]
DGUOK	2	c.l37A>G-c.831_832del	Autosomal recessive	[34,35]
FOPV	4	c.1783G>A-c.4895C>T	Autosomal dominant	[36]
GIMAP5	7	pI47T-p.P109 L-p.L204P-p.L223F	Autosomal recessive	[37]
FCHSD1	5	c.547C>T	Autosomal dominant	[38]
TRMT5	14	c.617T>C-c.899A>T	Autosomal recessive	[39]
HRG	3	c.545G>C-p.R182T	Autosomal dominant	[40]

KCNN3: Potassium calcium-activated channel subfamily N member 3; DGUOK: Deoxyguanos kinase; FOPV: Familial obliterative portal venopathy; GIMAP5: GTPase, IMAP family member 5; FCHSD1: FCH and double SH3 domains 1; TRMT5: TRNA methyltransferase 5; HRG: Histidine-rich glycoprotein.