Details of Disease

General Information of Disease (ID: DISXOLQ1)

• Disease Name: Neuropathy, hereditary sensory and autonomic, type 1A
• Synonyms: HSAN 1A; HSN 1A; neuropathy, hereditary sensory radicular, autosomal dominant, type 1A; neuropathy, hereditary sensory, type 1A; neuropathy, hereditary sensory and autonomic, type IA; hereditary sensory and autonomic neuropathy type 1A; hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1; SPTLC1 hereditary sensory and autonomic neuropathy type 1; hereditary sensory and autonomic neuropathy type IA; HSAN1A
• Definition: 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.|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).
• Disease Hierarchy:
  DISLSPO4: Hereditary sensory and autonomic neuropathy type 1
  DISXOLQ1: Neuropathy, hereditary sensory and autonomic, type 1A
• Disease Identifiers:
  MONDO ID: MONDO_0008086
  UMLS CUI: C5235211
  OMIM ID: 162400
  MedGen ID: 1716450
  SNOMED CT ID: 860813007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPTLC1	OTN0Z98K	Strong	Autosomal dominant	[1]

References

• [1] Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12. doi: 10.1038/85879.