Contents

Hereditary Sensory and Autonomic Neuropathy (HSAN)

Disease Info

SPTLC1/2 mutations	Alter serine palmitoyltransferase activity, affecting lipid metabolism
TRPV1 mutations	Impair pain and temperature sensing channels
SCN9A/10A/11A mutations	Affect sodium channel function in pain signaling
NGF mutations	Impair neurotrophic support for sensory neurons
ELP1 mutations	Affect tRNA modification and transcriptional regulation
Databases	OMIM Orphanet ClinicalTrials PubMed

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