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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 associated gene
5 signs/symptoms
Pseudopseudohypoparathyroidism
Mazabraud syndrome

GNAS GNAS


COMMON
GENES
GNAS



Citations in the biomedical literature:


Pseudopseudohypoparathyroidism
GNAS
Mazabraud syndrome



Pseudopseudohypoparathyroidism
Mazabraud syndrome

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

Synonym(s):
- Myxoma with fibrous dysplasia

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 (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:
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 -
1 MeSH reference: D011556
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


Pseudopseudohypoparathyroidism

(no data available)