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1 OMIM reference -
1 associated gene
14 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Progressive osseous heteroplasia
Pseudopseudohypoparathyroidism

GNAS GNAS


COMMON
GENES
GNAS



Citations in the biomedical literature:


Progressive osseous heteroplasia
GNAS
Pseudopseudohypoparathyroidism



Progressive osseous heteroplasia
Pseudopseudohypoparathyroidism

Synonym(s):
- Familial ectopic ossification

Synonym(s):
- AHO - PPHP
- Albright hereditary osteodystrophy - PPHP

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 endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare renal disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D011556

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


Pseudopseudohypoparathyroidism

(no data available)