HSN1A (the most common form) is associated with
HSN1B, reported in a small number of families, is linked to a specific location on
HSN1C is caused by mutations in the SPTLC2 gene
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
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin tumours like amelanotic melanoma (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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I have been diagnosed with HSAN type 1. My daughter is showing probable signs of the same. I have 2 sons that are not showing these same signs. Is it possible for my sons to be carriers of this condition and pass the mutation on to their children? Are there any resources for good information on this disease? I will do everything possible to help my children and grandchildren understand this condition. My doctor does not feel genetic testing is necessary due to the huge expense and great possibility of having a false negative outcome. Should I continue with this in your opinion? See answer
Is there a cure for hereditary sensory neuropathy type 1 (HSAN1)? See answer