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Pseudohypoparathyroidism type 1B

1 OMIM reference -
2 associated genes
No signs/symptoms info

COMMON GENES: 1

Mazabraud syndrome

1 associated gene
5 signs/symptoms

Pseudohypoparathyroidism type 1B

Mazabraud syndrome

GNAS	(UniProt - OMIM)		GNAS	(UniProt - OMIM)
STX16	(UniProt - OMIM)


COMMON GENES	GNAS

Citations in the biomedical literature:

Pseudohypoparathyroidism type 1B		Mazabraud syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Myxoma with fibrous dysplasia

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: (no data available)		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 - 1 MeSH reference: C548075		External references: No OMIM references No MeSH references

Mazabraud syndrome
	Very frequent - Fibromatosis / bone fibroma - Neoplasms / tumors Occasional - Anomalies of bones / skeletal anomalies - Bone / osseous neoplasm / tumor / carcinoma / cancer - Mutiple fractures / bone fragility
Pseudohypoparathyroidism type 1B
(no data available)