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7 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Heritable pulmonary arterial hypertension
Familial clubfoot due to 17q23.1q23.2 microduplication

ACVRL1 TBX4
BMPR2
CAV1
CBLN2
KCNK3
SMAD9
TBX4


COMMON
GENES
TBX4



Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Familial clubfoot due to 17q23.1q23.2 microduplication



Heritable pulmonary arterial hypertension
Familial clubfoot due to 17q23.1q23.2 microduplication

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension

Synonym(s):
- Hereditary clubfoot due to 17q23.1-q23.2 microduplication

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: neonatal/infancy
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

Familial clubfoot due to 17q23.1q23.2 microduplication

Very frequent
- Talipes-varus / metatarsal varus
- Total / partial trisomy / duplication

Frequent
- Short stature / dwarfism / nanism

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Thin / hypoplastic toenails


Heritable pulmonary arterial hypertension

(no data available)