Table 2.
Genetic pulmonary hypertension
| PH WHO GROUP | TYPE | Inheritance | MIM | Gene | MIM | Protein |
|---|---|---|---|---|---|---|
| # phenotype | *Gene locus | |||||
| Primary pulmonary hypertension (PPH) | ||||||
| 1 | PPH1 | AD | BMPR2a | 600799 | Bone Morphogenetic protein receptor 2 | |
| 1 | PPH2 | AD | SMAD9 | 603295 | Mothers against decapentaplegic drosophila, homologue of, 9 | |
| 1 | PPH3 | AD | CAV1 | 601047b | Caveolin1 | |
| 1 | PPH4 | AD | KCNK3 | 603220 | Potassium channel, subfamily K, member 3 | |
| 1 | Dexfenfluramine-associated PH | AD | CYP1B1 | 601771 | Cytochrome P450; subfamily 1; polypeptide 1 | |
| Pulmonary veno-occlusive disease (PVOD) | ||||||
| 1 | PVOD1 | AD | BMPR2 | 600799 | Bone Morphogenetic protein receptor 2 | |
| 1 | PVOD2 | AR | EIF2AK4 | 609280 | Eukaryotic translation initiation factor-2, alpha kinase 4 | |
| Hereditary haemorrhagic telangiectasia (HHT) | ||||||
| 1 | HHT1 (Rendu-Osler-Weber) | AD | ENG | 131195 | Endoglein (CD105) | |
| 1 | HHT2 | AD | ACVRL1 | 601284 | Activin A receptor, type II-like 1 | |
| Lymphangioleiomyomatosis (LAM) | ||||||
| 5 | Tuberous sclerosis-1; LAM | AD | TSC1 | 605284 | Amartin | |
| 5 | Tuberous sclerosis-2 and LAM somatic mutations | AD | TSC2 | 191092 | Tuberin | |
| Lysosomal storage diseases | ||||||
| 5 | Glycogen Storage disease type 1 | AR | G6PC (1a) | 232200 | Glucose-6-phosphatase | |
| SLC37A4 (1b) | 232220 | Glucose-6-phosphate translocase | ||||
| 5 | Glycogen Storage disease types 3a and b | AR | AGL | 610860 | Glycogen debrancher enzyme | |
| 5 | Gaucher Disease type 1 (with or without splenectomy) | AR | GBA | 606463 | Acid beta-glucosidase | |
a
Including fenfluramine-/dexfenfluramine associated PH.
b
Disorders allelic at the same locus: ‘Lipodystrophy, congenital, generalized type 3’ and ‘Partial lipodystrophy, congenital cataracts and neurodegeneration syndrome’.