hereditary sensory and autonomic neuropathy type 1

Summary
Synonym
  • HSAN1
  • hereditary sensory and autonomic neuropathy type I
Definition
A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
Super Class
hereditary sensory neuropathy
Disease Ontology
DOID:0070162
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
55304 SPTLC3 serine palmitoyltransferase long chain base subunit 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
20773 Sptlc2 serine palmitoyltransferase, long chain base subunit 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024