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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant osteosclerosis, Worth type
1 OMIM reference -
1 associated gene
14 signs/symptoms
Heritable pulmonary arterial hypertension
Autosomal dominant osteosclerosis, Worth type

ACVRL1
(UniProt - OMIM)
 LRP5
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMAD9
(0.63)
LRP5


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Autosomal dominant osteosclerosis, Worth type
LRP5



Heritable pulmonary arterial hypertension
Autosomal dominant osteosclerosis, Worth type

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Endosteal hyperostosis, Worth type
- Worth syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Autosomal dominant osteosclerosis, Worth type

Very frequent
- Anomalies of the ribs
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Osteosclerosis / osteopetrosis / bone condensation
- Palate exostoses / torus palatinus

Frequent
- Abnormal vertebral size / shape
- Enlargment of jaw / large jaw

Occasional
- Facial palsy
- Nystagmus
- Prognathism / prognathia
- Sensorineural deafness / hearing loss


Heritable pulmonary arterial hypertension

(no data available)