U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurofibromatosis, familial spinal

Neurofibromatosis, familial spinal

Summary

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013). [from OMIM]

Available tests

105 tests are in the database for this condition.

Clinical tests (105 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NFNS, VRNF, WSS, NF1
    Summary: neurofibromin 1

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.