Neuropathy, Hereditary Sensory and Autonomic, Type I

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the SPTLC1 gene, encoding serine palmitoyltransferase long chain base subunit 1. It is characterized by distal sensory impairment with variable autonomic and motor involvement.

**Synonyms:** - HSAN1 - Hereditary Sensory and Autonomic Neuropathy Type 1