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GTR Home > Conditions/Phenotypes > Autosomal recessive osteopetrosis 7

Autosomal recessive osteopetrosis 7

Synonyms
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; Osteopetrosis osteoclast-poor with hypogammaglobulinemia; TNFRSF11A- Related Autosomal Recessive Osteopetrosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive osteopetrosis-7 (OPTB7) is an osteoclast-poor form of osteopetrosis with hypogammaglobulinemia. Clinical features include visual impairment, recurrent respiratory infections, poor growth, developmental delay, and increased bone density (Guerrini et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700). [from OMIM]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7, OSTS, PDB2, RANK, TRANCE-R, TRANCER, TNFRSF11A
    Summary: TNF receptor superfamily member 11a

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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