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Progressive osseous heteroplasia

1 OMIM reference -
1 associated gene
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Mazabraud syndrome

1 associated gene
5 signs/symptoms

Progressive osseous heteroplasia

Mazabraud syndrome

GNAS

(UniProt - OMIM)

GNAS

(UniProt - OMIM)


COMMON GENES	GNAS

Citations in the biomedical literature:

Progressive osseous heteroplasia		Mazabraud syndrome
	Synonym(s): - Familial ectopic ossification		Synonym(s): - Myxoma with fibrous dysplasia

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

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: sporadic

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


COMMON SIGNS	- Anomalies of bones / skeletal anomalies

Progressive osseous heteroplasia		Mazabraud syndrome
	Very frequent - Autosomal dominant inheritance - Bone pain - Bone tumefaction / swelling - Restricted joint mobility / joint stiffness / ankylosis - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Muscle ossification Occasional - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Follicular / erythematous / edematous papules / milium - Macules - Osteoarthritis - Parathyroids anomalies - Sarcoma - Short hand / brachydactyly		Very frequent - Fibromatosis / bone fibroma - Neoplasms / tumors Occasional - Bone / osseous neoplasm / tumor / carcinoma / cancer - Mutiple fractures / bone fragility