has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of SPTLC1 serine C-palmitoyltransferase activity neuropathy, hereditary sensory and autonomic, type 1A https://www.malacards.org/card/neuropathy_hereditary_sensory_and_autonomic_type_ia SPTLC1 hereditary sensory and autonomic neuropathy type 1 Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010). An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1. UMLS:C5235211 MEDGEN:1716450 neuropathy, hereditary sensory and autonomic, type IA DOID:0070152 hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1 OMIM:162400 MONDO:0008086 GARD:0015095 HSAN1A hereditary sensory and autonomic neuropathy type 1