Pulmonary hypertension, primary, 1

Preferred Label : Pulmonary hypertension, primary, 1;

Symbol : PPH1;

CISMeF acronym : PAH; PHT; PPH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pulmonary arterial hypertension; PHT; PAH;

Included titles and symbols : Pulmonary hypertension, primary, dexfenfluramine-associated; Pulmonary hypertension, primary, fenfluramine-associated; Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia; Pph1 with hht;

Description : 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). - Genetic Heterogeneity of Primary Pulmonary Hypertension PPH2 (615342) is caused by mutation in the SMAD9 gene (603295) on chromosome 13q12; PPH3 (615343) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; and PPH4 (615344) is caused by mutation in the KCNK3 gene (603220) on chromosome 2p24. See 265400 for a possible autosomal recessive form of PPH. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type 2 bone morphogenetic protein receptor gene (BMPR2, 600799.0001);

Laboratory abnormalities : Arterial hypoxemia;

Prefixed ID : #178600;

Details

Origin ID

178600;

UMLS CUI

C4552070;

Automatic exact mappings (from CISMeF team)
- BMPR2 wt Allele [NCIt concept]
- Familial Primary Pulmonary Hypertension [MeSH Descriptor]
- Idiopathic/heritable pulmonary arterial hypertension [ORDO Disease]
- Para-Aminohippurate Sodium Measurement [NCIt concept]
- Portal hypertension [ICD-11 Subcategory]
- Pressure half time [LOINC component]
- Primary Pulmonary Hypertension-1 [NCIt concept]
- Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia [MeSH concept]
- Pulmonary artery hypoplasia [ORDO Disease]
- phenylalanine hydroxylase [ORDO Gene]
- proclavaminate amidinohydrolase activity [GO term]
- pulmonary hypertension, primary, Dexfenfluramine-Associated [MeSH concept]
- pulmonary hypertension, primary, Fenfluramine-Associated [MeSH concept]
- putrescine N-hydroxycinnamoyltransferase activity [GO term]
- symbol withdrawn PPH1 [HGNC gene]
Broader ORDO disease(s)
- Idiopathic/heritable pulmonary arterial hypertension [ORDO Disease]
Currated CISMeF NLP mapping
- Pulmonary Arterial Hypertension [NCIt concept]
- Pulmonary arterial hypertension [ICD-11 Subcategory]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary arterial hypertension [MedDRA Preferred Term]
- Pulmonary arterial hypertension [ORDO Disease]
- Pulmonary hypertensive arterial disease (disorder) [SNOMED CT concept]
- hypertension, pulmonary [MeSH Descriptor]
- pulmonary hypertension [MedlinePlus Topic]
DO Cross reference
- primary pulmonary hypertension [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein receptor, type II [OMIM gene]
HPO term(s)
- Abnormal thrombosis [HPO term]
- Arterial intimal fibrosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dyspnea [HPO term]
- Elevated right atrial pressure [HPO term]
- Hypertension [HPO term]
- Incomplete penetrance [HPO term]
- Increased pulmonary vascular resistance [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary arterial medial hypertrophy [HPO term]
- Pulmonary artery vasoconstriction [HPO term]
- Pulmonary aterial intimal fibrosis [HPO term]
- Right ventricular failure [HPO term]
- Right ventricular hypertrophy [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- Heritable pulmonary arterial hypertension [ORDO Disease]
- Idiopathic/heritable pulmonary arterial hypertension [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Idiopathic pulmonary arterial hypertension [MedDRA LLT]
- Idiopathic pulmonary arterial hypertension [ORDO Disease]
- Idiopathic pulmonary arterial hypertension (disorder) [SNOMED CT concept]
- Primary Pulmonary Hypertension-1 [NCIt concept]
- idiopathic pulmonary arterial hypertension [MeSH concept]
Validated automatic mappings to NTBT
- Heritable pulmonary arterial hypertension [ORDO Disease]
- Pulmonary Arterial Hypertension [MeSH Descriptor]
- pulmonary arterial hypertension [Disease (Nov.)]

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