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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
13 signs/symptoms
Idiopathic pulmonary arterial hypertension
Brachydactyly type A1

BMPR2 GDF5
CBLN2 IHH
KCNK3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR2
(0.88)
GDF5



Citations in the biomedical literature:


Idiopathic pulmonary arterial hypertension
BMPR2 CBLN2 KCNK3
Brachydactyly type A1
GDF5 IHH



Idiopathic pulmonary arterial hypertension
Brachydactyly type A1

Synonym(s):
- IPAH

Synonym(s):
- Brachydactyly, Farabee type

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: 1-9 / 1 000 000
Average age onset: variable
Average age of death: adult
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C537088

Brachydactyly type A1

Very frequent
- Autosomal dominant inheritance
- Short big toe
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence

Frequent
- Cone epiphyses / epiphysis

Occasional
- Clinodactyly of fifth finger
- Metacarpal anomalies / Archibald's sign
- Scoliosis
- Symphalangy of fingers
- Talipes-varus / metatarsal varus
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Idiopathic pulmonary arterial hypertension

(no data available)