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GENATLAS PHENOTYPE

last update : 25-10-2010

Symbol	HSAN6
Location	14q24.3
Name	hereditary sensory and autonomic neuropathy, type VI
Other name(s)	neuropathy, hereditary sensory and autonomic, type IC
Corresponding gene	SPTLC2
Other symbol(s)	HSAN1C
Main clinical features	neuropathy presenting from the second decade of life onwards, with prominent sensory involvement and a variable degree of motor and autonomic dysfunction neurological phenotype often complicated by severe infections, osteomyelitis, and amputations; on nerve conduction testing, sensory nerve action potentials are typically severely reduced to absent with relative preservation of nerve conduction velocities, classifying HSAN-I as an axonal neuropathy
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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