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Idiopathic pulmonary arterial hypertension
3 associated genes
44 connected diseases
No signs/symptoms info
Disease Type of connection
Heritable pulmonary arterial hypertension
Pulmonary venoocclusive disease
Brachydactyly type A2
Brachydactyly type C
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
20p12.3 microdeletion syndrome
14q22q23 microdeletion syndrome
Microphthalmia with brain and digit anomalies
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome
Proximal symphalangism
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Fibrodysplasia ossificans progressiva
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Williams syndrome
Colobomatous microphthalmia
Isolated Klippel-Feil syndrome
Leber congenital amaurosis
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
X-linked lymphoproliferative disease
Retinitis pigmentosa
Hereditary hemorrhagic telangiectasia
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Spinocerebellar ataxia type 36
Synonym(s):
- IPAH
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: adult
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
BMPR2 Q13873600799
CBLN2 Q8IUK8600433
KCNK3 O14649603220
No signs/symptoms info available.