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
External Links
Disease Ontology
DOID:0070162
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
189 AGXT alanine--glyoxylate aminotransferase
2619 GAS1 growth arrest specific 1
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
55304 SPTLC3 serine palmitoyltransferase long chain base subunit 3
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P54826 Growth arrest-specific protein 1
Q92562 Polyphosphoinositide phosphatase

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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: August 19, 2024