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Pseudohypoparathyroidism type 1B

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

COMMON GENES: 1

Progressive osseous heteroplasia

1 OMIM reference -
1 associated gene
14 signs/symptoms

Pseudohypoparathyroidism type 1B

Progressive osseous heteroplasia

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


COMMON GENES	GNAS

Citations in the biomedical literature:

Pseudohypoparathyroidism type 1B		Progressive osseous heteroplasia
	Synonym(s): (no synonyms)		Synonym(s): - Familial ectopic ossification

	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 - Rare skin 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C548075		External references: 1 OMIM reference - No MeSH references

Progressive osseous heteroplasia
	Very frequent - Anomalies of bones / skeletal anomalies - 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
Pseudohypoparathyroidism type 1B
(no data available)