PULMONARY HYPERTENSION, PRIMARY, 3

General Information (adopted from Orphanet):

Synonyms, Signs: PPH3
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615343
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:0004890) Elevated pulmonary artery pressure 8 / 7739
2
 (HPO:0002092) Pulmonary hypertension 109 / 7739
3
 (HPO:0005317) Increased pulmonary vascular resistance 7 / 7739
4
 (HPO:0002094) Dyspnea 132 / 7739
5
 (OMIM) Pulmonary arteries show medial hypertrophy 1 / 7739
6
 (OMIM) Pulmonary artery vascular wall remodeling 1 / 7739
7
 (HPO:0003829) Incomplete penetrance 85 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Austin et al. (2012) reported a 3-generation family in which 6 individuals were diagnosed with primary pulmonary hypertension between ages 4 and 67 years. One patient died at age 4 years. Affected members in the later generations showed ...
Molecular genetics OMIM In affected members of a 3-generation family with autosomal dominant primary pulmonary hypertension, Austin et al. (2012) identified a heterozygous truncating mutation in the CAV1 gene (601047.0002). The mutation, which was identified by whole-exome sequencing and confirmed by ...