Pulmonary Hypertension, Primary, 1 (PPH1)

External Ids:

OMIM 57 178600 Orphanet 59 ORPHA275766 UMLS via Orphanet 74 C3203102 C0152171 ICD10 via Orphanet 34 I27.0 MedGen 42 C3203102 C0152171 C1969342 C1969343 C2750263 C2973725 more

MeSH 44 D006976 KEGG 37 H01621 SNOMED-CT via HPO 69 263681008 24184005 38341003 112641009 247479008 25003006 271594007 272030005 309585006 389026000 42343007 84114007 95281009 89792004 128404006 367363000 26237000 267039000 80313002 11399002 697898008 70995007 230145002 267036007 66857006 6686005 80515008 271789005 399090003 399153001 404640003 111287006 195382003 254206003 402867006 56975005 83343001 102572006 445124008 248274002 84229001 414786004 421493004 88610006 29857009 more UMLS 73 C3203102 C2973725 C0340543 C0152171 C0004468 C0340542 more

OMIM : ⁵⁷ Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). (178600)

MalaCards based summary : Pulmonary Hypertension, Primary, 1, also known as pulmonary arterial hypertension, is related to scleroderma, familial progressive and heart disease, and has symptoms including dyspnea An important gene associated with Pulmonary Hypertension, Primary, 1 is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are TGF-beta signaling pathway and Human Embryonic Stem Cell Pluripotency. The drugs Carbetocin and Oxytocin have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related phenotypes are dyspnea and pulmonary arterial hypertension

Genetics Home Reference : ²⁵ Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart.

NIH Rare Diseases : ⁵³ Pulmonary arterial hypertension(PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. When PAH is inherited from an affected relative it is called "familial" PAH. Cases with no identifiable cause may be referred to as "idiopathic" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines. 

UniProtKB/Swiss-Prot : ⁷⁵ Pulmonary hypertension, primary, 1: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

Clinical features from OMIM:

178600

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 1

Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 1.