hereditary sensory neuropathy type 4

Summary
Synonym
  • hereditary sensory neuropathy type IV
  • insensitivity to pain, congenital, with anhidrosis
Definition
A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
Super Class
autosomal recessive disease hereditary sensory neuropathy
Disease Ontology
DOID:0070146
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4914 NTRK1 neurotrophic receptor tyrosine kinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18211 Ntrk1 neurotrophic tyrosine kinase, receptor, type 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
59109 Ntrk1 neurotrophic receptor tyrosine kinase 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: December 9, 2024