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Angel-shaped phalango-epiphyseal dysplasia
1 OMIM reference -
1 associated gene
19 connected diseases
9 signs/symptoms
Disease Type of connection
Brachydactyly type A2
Brachydactyly type C
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Brachydactyly type A1
Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome
Proximal symphalangism
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Fibrodysplasia ossificans progressiva
Situs ambiguus
Estrogen resistance syndrome
CARASIL
Synonym(s):
- ASPED
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GDF5 P43026601146
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