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1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Pseudohypoparathyroidism type 1B
Progressive osseous heteroplasia

GNAS GNAS
STX16


COMMON
GENES
GNAS



Citations in the biomedical literature:


Pseudohypoparathyroidism type 1B
GNAS STX16
Progressive osseous heteroplasia



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)