Idiopathic and/or familial pulmonary arterial hypertension

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 422
OMIM Id: 178600
265400
615342
615343
615344
ICD-10: I27.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Pulmonary arterial hypertension
 -Rare respiratory disease
Rare genetic respiratory disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001009) Telangiectasia 46 / 7739
2
 (HPO:0005312) Pulmonary aterial intimal fibrosis frequent [HPO] 3 / 7739
3
 (HPO:0001708) Right ventricular failure hallmark [HPO] 11 / 7739
4
 (HPO:0000822) Hypertension 224 / 7739
5
 (HPO:0005308) Pulmonary artery vasoconstriction frequent [HPO] 4 / 7739
6
 (HPO:0011353) Arterial intimal fibrosis 1 / 7739
7
 (HPO:0002092) Pulmonary hypertension 100% [HPO] 109 / 7739
8
 (HPO:0005168) Elevated right atrial pressure hallmark [HPO] 3 / 7739
9
 (HPO:0004964) Pulmonary arterial medial hypertrophy frequent [HPO] 2 / 7739
10
 (HPO:0005317) Increased pulmonary vascular resistance hallmark [HPO] 7 / 7739
11
 (HPO:0001667) Right ventricular hypertrophy hallmark [HPO] 23 / 7739
12
 (HPO:0001977) Abnormal thrombosis frequent [HPO] 11 / 7739
13
 (HPO:0002094) Dyspnea frequent [HPO] 132 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: