PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 265400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003388) Easy fatigability 34 / 7739
2
(HPO:0012378) Fatigue 50 / 7739
3
(HPO:0001681) Angina pectoris 22 / 7739
4
(HPO:0002092) Pulmonary hypertension 109 / 7739
5
(HPO:0001708) Right ventricular failure 11 / 7739
6
(HPO:0001667) Right ventricular hypertrophy 23 / 7739
7
(HPO:0001279) Syncope 94 / 7739
8
(HPO:0002875) Exertional dyspnea 29 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(OMIM) Enlarged pulmonary arteries 1 / 7739
11
(OMIM) Substernal oppression 1 / 7739
12
(OMIM) Accentuated pulmonary valve closure 1 / 7739
13
(OMIM) Gallop rhythm 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: