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Pulmonary venoocclusive disease
2 OMIM references -
2 associated genes
49 connected diseases
No signs/symptoms info
Disease Type of connection
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary capillary hemangiomatosis
Brachydactyly type A2
Familial thoracic aortic aneurysm and aortic dissection
Brachydactyly type C
Familial isolated dilated cardiomyopathy
Generalized juvenile polyposis / juvenile polyposis coli
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Hereditary hemorrhagic telangiectasia
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
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
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
X-linked lymphoproliferative disease
Retinitis pigmentosa
Familial pancreatic carcinoma
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Myhre syndrome
Spinocerebellar ataxia type 36
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: D011668
Gene symbol UniProt reference OMIM reference
BMPR2 Q13873600799
EIF2AK4 Q9P2K8609280
No signs/symptoms info available.