PULMONARY HYPERTENSION, PRIMARY, 1

General Information (adopted from Orphanet):

Synonyms, Signs: PPH1 WITH HHT, INCLUDED
PAH PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED
PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA, INCLUDED
PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED
PULMONARY ARTERIAL HYPERTENSION
PHT
PPH1
Number of Symptoms 16
OrphanetNr:
OMIM Id: 178600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001667) Right ventricular hypertrophy 23 / 7739
2
(HPO:0004890) Elevated pulmonary artery pressure 8 / 7739
3
(HPO:0005317) Increased pulmonary vascular resistance 7 / 7739
4
(HPO:0005168) Elevated right atrial pressure 3 / 7739
5
(HPO:0005308) Pulmonary artery vasoconstriction 4 / 7739
6
(HPO:0001708) Right ventricular failure 11 / 7739
7
(HPO:0001977) Abnormal thrombosis 11 / 7739
8
(HPO:0002094) Dyspnea 132 / 7739
9
(OMIM) Arterial hypoxemia 1 / 7739
10
(OMIM) Arterial vascular wall remodeling 1 / 7739
11
(MedDRA:10007595) Cardiac output decreased 3 / 7739
12
(OMIM) Plexiform vascular lesions 3 / 7739
13
(OMIM) Pulmonary function tests may show restrictive pattern 1 / 7739
14
(OMIM) Arteries show medial hypertrophy 1 / 7739
15
(OMIM) Thrombosis in situ 1 / 7739
16
(OMIM) Arteries show intimal fibrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Melmon and Braunwald (1963) observed 2 proved cases and 3 presumptive cases of primary pulmonary hypertension (PPH) in 3 generations of a family. Parry and Verel (1966) described the disorder in a mother and her 2 daughters and ...
Molecular genetics OMIM Members of the TGF-beta superfamily (see, e.g. 190180), including TGFB, BMPs, and activin, transduce signals by binding to heteromeric complexes of type I and II serine/threonine kinase receptors, leading to transcriptional regulation by phosphorylated Smads (e.g., 601366). The ...
Population genetics OMIM In the Finnish population, Sankelo et al. (2005) reported that prevalence of PPH was 5.8 cases per million and annual incidence was 0.2 to 1.3 cases per million. Detailed molecular analysis of 26 sporadic patients and 4 familial ...