Gene | Abstracts | Lvl | Category | Notes |
---|
Gene | Abstracts | Lvl | Category | Notes |
---|---|---|---|---|
BMPR2 | 242 | 9.9 | Experimental evidence of mutations | PMID 10973254 By comparison with in vitro studies, identified defects of BMPR-II in FPPH are predicted to disrupt ligand binding, kinase activity and heteromeric dimer formation. Our data demonstrate the molecular basis of FPPH and underscore the importance in vivo of the TGF-beta signalling pathway in the maintenance of blood vessel integrity SEVERAL REPORTS (vt) |
ACVRL1 | 42 | 9.9 | Experimental evidence of mutations | Id. 16540754 "Molecular analysis identified mutations in the ACVRL1 gene in 7 of these 9 subjects. Even on exclusion of relatives of the single case with known pulmonary hypertension, 5 of 37 patients (13.5%) still showed values higher than those of controls" Each proband with the ALK1 mutation developed PAH. (vt) |
BMP1:BMP(52) | 39 | 9.9 | ||
ENG | 33 | 9.9 | Experimental evidence of mutations | 14684682,15687131,21378382 (mosaicism),26167679 (vt) |
EDN1 | 18 | 9.9 | Experimental evidence of mutations | Polymorphisms.- 21537392, 22754222, 24529882, 26252367 Review: 24570333 Mutacion en ERA: 25226600 A significant association of EDN1 3A/4A polymorphism (+138 A; rs10478694) (OR-3.485; CI-1.254, 9.999; p=0.013) and EDN1 Lys198Asn polymorphism (G/T, rs5370) (OR-3.378, CI-1.104, 10.582; p=0.03) with IPAH was observed. The genotype analysis of the EDN1 gene polymorphism shows statistically significant differences in patients with PAH compared to healthy individuals. Individuals carrying at least one T allele exhibit a higher relative significant risk to develop HAP. (vt) |
EIF2AK4 | 18 | 9.9 | Experimental evidence of mutations | 24292273 Mutations in this gene associated with other diseases. PVOD 25512148 we sequenced EIF2AK4 and found a homozygous mutation in all five families: c.3344C>T(p.P1115L). The majority of our patients required early lung transplantation. Hence, this mutation appeared with a more severe phenotype than previously reported for other EIF2AK4 mutations. The finding of this novel mutation is important for genetic counseling and calculation of population recurrence risks. 26699722 Bi-allelic mutations in EIF2AK4 were identified in all patients with a family history of PVOD (n=19) and in seven patients (8.6%) presenting as sporadic PVOD. Pre-symptomatic genetic diagnosis was offered to 272 relatives of heritable PAH patients, identifying mutations in 36.4% of them *** Other disease ? *** It has been found also in heritable PAH patients. (vt) |
KCNK3 | 16 | 9.9 | Experimental evidence of mutations | Mutated in PAH. 24037626 Recent advancements in gene sequencing methods have facilitated the discovery of additional genes with mutations among those with and without familial PAH (CAV1, KCNK3). HPAH is an autosomal dominant disease characterized by reduced penetrance, variable expressivity, and female predominance. These characteristics suggest that genetic and nongenetic factors modify disease expression, highlighting areas of active investigation. The reduced penetrance makes genetic counseling complex, as the majority of carriers of PAH-related mutations will never be diagnosed with the disease. Our study identified the association of a novel gene, KCNK3, with familial and idiopathic pulmonary arterial hypertension. Mutations in this gene produced reduced potassium-channel current, which was successfully remedied by pharmacologic manipulation. (vt) |
TGFB1 | 16 | 5.3 | Related but not mutated | Related but not mutated in PAH |
BMP4 | 15 | 9.9 | Related but not mutated | Related but not mutated. |
CAV1 | 15 | 9.9 | Experimental evidence of mutations | PMID 23250901 The study highlights the utility of sequencing in identifying 2 novel mutations in CAV1 in human PAH and without involvement in transforming growth factor-_ signaling. Based upon the similarities in the clinical features of these two patients, previous reports of CAV1 mutations in patients with lipodystrophies and pulmonary hypertension, and similar features seen in CAV1 null mice, we conclude that these variants are the most likely cause of one subtype of neonatal onset generalized lipodystrophy syndrome (vt) |