ODCs

Click node...

1 OMIM reference -
3 associated genes
6 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Brachydactyly type A2

Angel-shaped phalango-epiphyseal dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.9)	GDF5

Citations in the biomedical literature:

Brachydactyly type A2		Angel-shaped phalango-epiphyseal dysplasia
	Synonym(s): - Brachydactyly, Mohr-Wriedt type		Synonym(s): - ASPED

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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: 1 OMIM reference - 1 MeSH reference: C537089		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Brachydactyly type A2		Angel-shaped phalango-epiphyseal dysplasia
	Very frequent - Short hand / brachydactyly Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia		Very frequent - 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