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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Angel-shaped phalango-epiphyseal dysplasia
1 OMIM reference -
1 associated gene
9 signs/symptoms
Heritable pulmonary arterial hypertension
Angel-shaped phalango-epiphyseal dysplasia

ACVRL1
(UniProt - OMIM)
 GDF5
(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)
BMPR2
(0.88)
GDF5


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Angel-shaped phalango-epiphyseal dysplasia
GDF5



Heritable pulmonary arterial hypertension
Angel-shaped phalango-epiphyseal dysplasia

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- ASPED
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: <1 / 1 000 000
Average age onset: variable
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
Angel-shaped phalango-epiphyseal dysplasia

Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly

Frequent
- Anomalies of teeth and dentition
- Arthritis / synovitis / synovial proliferation
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Short stature / dwarfism / nanism

Occasional
- Delayed bone age
- Hyperextensible joints / articular hyperlaxity


Heritable pulmonary arterial hypertension

(no data available)