Table 1

HHT genes and pattern of HHT

HHT	HHT features	Inheritance	Comments on HHT	Disease associations	Chromosome	Gene	Phenotype references
AD, autosomal dominant.
HHT1	Classical HHT	AD	Higher frequency of pulmonary AVMs		9	Endoglin ³	Berg et al,¹³Shovlin et al²¹
HHT2	Classical HHT	AD	Milder phenotype	Primary pulmonary hypertension (PPH)	12	ALK-1 ⁴	Berg et al,¹³Trembath et al¹⁴
JPHT	Juvenile polyposis (JP) associated with HHT	AD		Juvenile polyposis	18	Smad4 ⁵	Gallione et al⁵
HHT3	Classical HHT	AD	See text		5	?	Current