U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Osteopetrosis, autosomal recessive 9

Osteopetrosis, autosomal recessive 9

Synonyms
OSTEOPETROSIS, IKEGAWA TYPE

Summary

Autosomal recessive osteopetrosis-9 (OPTB9) is characterized by increased bone density and bone fragility, as well as renal failure. Vision may be compromised due to compression of the optic nerve secondary to osteopetrotic stenosis of the optic nerve canal (Xue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AE2, BND3L, EPB3L1, HKB3, NBND3, OPTB9, SLC4A2
    Summary: solute carrier family 4 member 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.