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
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
667 DST dystonin
1786 DNMT1 DNA methyltransferase 1
4914 NTRK1 neurotrophic receptor tyrosine kinase 1
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
10575 CCT4 chaperonin containing TCP1 subunit 4
11280 SCN11A sodium voltage-gated channel alpha subunit 11
65125 WNK1 WNK lysine deficient protein kinase 1
Displaying all 5 entries
Gene ID Gene Symbol Description Source
13433 Dnmt1 DNA methyltransferase 1
13518 Dst dystonin
18211 Ntrk1 neurotrophic tyrosine kinase, receptor, type 1
24046 Scn11a sodium channel, voltage-gated, type XI, alpha
232341 Wnk1 WNK lysine deficient protein kinase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29701 Scn11a sodium voltage-gated channel alpha subunit 11
59109 Ntrk1 neurotrophic receptor tyrosine kinase 1
116477 Wnk1 WNK lysine deficient protein kinase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32619 para paralytic
36542 shot short stop
Displaying 1 entry
Gene ID Gene Symbol Description Source
851412 CCT4 chaperonin-containing T-complex subunit CCT4

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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