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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Melorheostosis with osteopoikilosis
1 associated gene
6 signs/symptoms
Heritable pulmonary arterial hypertension
Melorheostosis with osteopoikilosis

ACVRL1
(UniProt - OMIM)
 LEMD3
(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)
LEMD3


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Melorheostosis with osteopoikilosis
LEMD3



Heritable pulmonary arterial hypertension
Melorheostosis with osteopoikilosis

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- MSBD syndrome
- Mixed sclerosing bone dystrophy
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):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Melorheostosis with osteopoikilosis

Very frequent
- Cortical anomaly / thick bone cortical layer
- Osteosclerosis / osteopetrosis / bone condensation

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Chronic arterial hypertension
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Xanthomas / lipomas


Heritable pulmonary arterial hypertension

(no data available)