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Angel-shaped phalango-epiphyseal dysplasia

1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Angel-shaped phalango-epiphyseal dysplasia

CARASIL

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GDF5	(0.59)	HTRA1

Citations in the biomedical literature:

Angel-shaped phalango-epiphyseal dysplasia		CARASIL
	Synonym(s): - ASPED		Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal recessive

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

Angel-shaped phalango-epiphyseal dysplasia
	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
CARASIL
(no data available)