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Osteopetrosis - hypogammaglobulinemia
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Familial expansile osteolysis
Autosomal dominant hypohidrotic ectodermal dysplasia
Herpetic encephalitis
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Autosomal recessive malignant osteopetrosis
Familial isolated dilated cardiomyopathy
Congenital enteropathy due to enteropeptidase deficiency
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
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 -
No MeSH references
Gene symbol UniProt reference OMIM reference
TNFRSF11A Q9Y6Q6603499
No signs/symptoms info available.