Table 1

 HHT genes and pattern of HHT

HHTHHT featuresInheritanceComments on HHTDisease associationsChromosomeGenePhenotype references
AD, autosomal dominant.
HHT1Classical HHTADHigher frequency of pulmonary AVMs9 Endoglin 3 Berg et al,13Shovlin et al21
HHT2Classical HHTADMilder phenotypePrimary pulmonary hypertension (PPH)12 ALK-1 4 Berg et al,13Trembath et al14
JPHTJuvenile polyposis (JP) associated with HHTADJuvenile polyposis18 Smad4 5 Gallione et al5
HHT3Classical HHTADSee text5?Current