hereditary sensory neuropathy

Summary
Synonym
  • familial dysautonomia, type II
  • hereditary sensory and autonomic neuropathy
Definition
A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
Super Class
neuropathy
Disease Ontology
DOID:0050548
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1786 DNMT1 DNA methyltransferase 1
4914 NTRK1 neurotrophic receptor tyrosine kinase 1
65125 WNK1 WNK lysine deficient protein kinase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
13518 Dst dystonin
18211 Ntrk1 neurotrophic tyrosine kinase, receptor, type 1
24046 Scn11a sodium channel, voltage-gated, type XI, alpha

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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: April 7, 2025