PULMONARY HYPERTENSION, PRIMARY, 2

General Information (adopted from Orphanet):

Synonyms, Signs: PPH2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615342
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:0005317) Increased pulmonary vascular resistance 7 / 7739
2
(HPO:0002092) Pulmonary hypertension 109 / 7739
3
(HPO:0003676) Progressive disorder 148 / 7739
4
(OMIM) [DEL]Right heart failure 1 / 7739
5
(HPO:0003829) Incomplete penetrance 85 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shintani et al. (2009) reported a boy who was diagnosed with pulmonary hypertension at age 8 years. Two sibs of the proband had died of pulmonary disease at ages 13 years and less than 2 years.
Molecular genetics OMIM In a patient with primary pulmonary hypertension-2, Shintani et al. (2009) identified a heterozygous truncating mutation in the SMAD9 gene (603295.0001). In vitro functional expression assays showed that the mutant SMAD9 protein could not be phosphorylated, did not ...