hereditary sensory and autonomic neuropathy type 2

Summary
Synonym
  • HSAN2
  • hereditary sensory and autonomic neuropathy type II
Definition
A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.
Super Class
hereditary sensory neuropathy
External Links
Disease Ontology
DOID:0070161
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
Related Genes
Displaying entries 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
5230 PGK1 phosphoglycerate kinase 1
5236 PGM1 phosphoglucomutase 1
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
8898 MTMR2 myotubularin related protein 2
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
27036 SIGLEC7 sialic acid binding Ig like lectin 7
84649 DGAT2 diacylglycerol O-acyltransferase 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: August 19, 2024