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 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
821 CANX calnexin
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1
3931 LCAT lecithin-cholesterol acyltransferase
4099 MAG myelin associated glycoprotein
4534 MTM1 myotubularin 1

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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