Table 1 Genes involved in HHT
From: Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT)
HHT | OMIM | Chromosome | Gene | Protein |
|---|---|---|---|---|
HHT 1 | #187300 | 9 | ENG | endoglin |
HHT 2 | #600376 | 12 | ACVRL1 | ALK1 |
HTJP | #175050 | 18 | MADH4 | Smad 4 |
HHT 3? | 5 | |||
HHT 4? | 7 | |||
SMCMA | 14 | BMP9 (GDF2) | BMP9 |