Pulmonary arterial hypertension
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
PAH
|
|
Number of Symptoms
|
15
|
|
OrphanetNr:
|
182090
|
|
OMIM Id:
|
|
|
ICD-10:
|
|
|
UMLs:
|
C0152171
|
|
MeSH:
|
C536282
|
|
MedDRA:
|
10064911
|
|
Snomed:
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26174007
|
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:
|
Rare pulmonary hypertension
-Rare respiratory disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0100749)
|
Chest pain |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
3
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
4
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
5
|
(HPO:0001063)
|
Acrocyanosis |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
6
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
7
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
8
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
9
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
10
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
11
|
(HPO:0010741)
|
Edema of the lower limbs |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
12
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
|
13
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
14
|
(HPO:0002105)
|
Hemoptysis |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |