A heterogeneous group of disorders associated with sensory dysfunction. Hereditary sensory neuropathy type I (HSAN1 ) is caused by mutation in the gene that encodes serine palmitoyltransferase (EC 188.8.131.52), the key enzyme in sphingolipid biosynthesis. HSAN2 is caused by mutation in the HSN2 gene that encodes a 434-aa protein of uncertain function. HSAN3 (see dysautonomia) is caused by mutation in the IκB kinase-associated protein. HSAN4 is caused by mutation in a neurotrophin receptor. HSAN5 is caused by mutation in the nerve growth factor β subunit. Adult-onset HSAN with anosmia is believed to be a distinct form.
Subjects: Medicine and Health.