Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Hereditary sensory neuropathy type 1


Other Names for this Disease

  • Hereditary sensory and autonomic neuropathy type 1
  • HSAN 1
  • HSN1
  • Neuropathy hereditary sensory and autonomic type 1
  • Neuropathy hereditary sensory radicular, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

Is genetic testing available for hereditary sensory neuropathy type 1?

At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found:[1]
  • HSN1A (the most common form) is associated with mutations in the SPTLC1 gene

  • HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified

  • HSN1C is caused by mutations in the SPTLC2 gene

  • HSN1D is caused by mutations in the ATL1 gene (the same gene is associated with early-onset hereditary spastic paraplegia 3A)

  • HSN1E is caused by mutations in the DNMT1 gene[1]

The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1.

If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms.[2]
Last updated: 9/3/2014

References
  1. Robert P Cruse. Hereditary sensory and autonomic neuropathies. UpToDate. Waltham, MA: UpToDate; September, 2014; Accessed 9/3/2014.
  2. Garth A Nicholson. Hereditary Sensory Neuropathy Type 1A. GeneReviews. March 7, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1390/. Accessed 9/3/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Hereditary sensory and autonomic neuropathy type 1
  • HSAN 1
  • HSN1
  • Neuropathy hereditary sensory and autonomic type 1
  • Neuropathy hereditary sensory radicular, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.