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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial expansile osteolysis
Osteopetrosis - hypogammaglobulinemia

TNFRSF11A TNFRSF11A


COMMON
GENES
TNFRSF11A



Citations in the biomedical literature:


Familial expansile osteolysis
TNFRSF11A
Osteopetrosis - hypogammaglobulinemia



Familial expansile osteolysis
Osteopetrosis - hypogammaglobulinemia

Synonym(s):
- Hereditary expansile polyostotic osteolytic dysplasia
- McCabe's disease

Synonym(s):
- Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- Autosomal recessive osteopetrosis type 7

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

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C536335
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.