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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Acromesomelic dysplasia, Hunter-Thomson type
1 OMIM reference -
1 associated gene
18 signs/symptoms
Heritable pulmonary arterial hypertension
Acromesomelic dysplasia, Hunter-Thomson type

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
Acromesomelic dysplasia, Hunter-Thomson type
GDF5



Heritable pulmonary arterial hypertension
Acromesomelic dysplasia, Hunter-Thomson type

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Acromesomelic dwarfism
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: normal
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Acromesomelic dysplasia, Hunter-Thomson type

Very frequent
- Ankle anomalies
- Autosomal recessive inheritance
- Elbow dislocation
- Irregular length / shape of fingers
- Mesomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Simian crease / transverse / unique palmar crease
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tarsal anomaly / fusion / synostosis
- Thumb hypoplasia / aplasia / absence

Frequent
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Patella dislocation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Wrist / carpal anomalies



Heritable pulmonary arterial hypertension

(no data available)