Current guidelines for diagnosis and management of hepatic involvement in hereditary hemorrhagic teleangiectasia

Table 2 Genes responsible for hereditary hemorrhagic teleangiectasia, phenotypes and liver involvement prevalence

Gene	Protein	Location	Phenotype	Liver involvement prevalence
ENG	Endoglin	9q34.11	HHT1	7.6%-43.0%
ACVLR1	ALK1	12q13.13	HHT2	40.6%-57.6%
MADH4	Smad4	18q21.1	PJ-HHT	33.3%
GDF2	BMP9	10q11.22	HHT-like	Unknown
RASA-1	p120-RasGAP	5q14.3	CM-AVM	Unknown

ACVLR1: Activin A receptor type II-like 1; ALK1: Activin-like receptor kinase 1; BMP9: Bone morphogenetic protein 9; CM-AVM: Capillary malformation–arteriovenous malformation syndrome; GDF2: Growth differentiation factor 2; ENG: Endoglin; MADH4: Mothers against decapentaplegic homolog 4; p120-RasGAP: p120-Ras GTPase activating protein; PJ: Juvenile polyposis; RASA-1: Ras p21 protein activator 1; Smad4: Small mother against decapentaplegic.