hereditary sensory and autonomic neuropathy type 1C

Summary
Synonym
  • HSAN1C
  • hereditary sensory and autonomic neuropathy type IC
Definition
A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
Super Class
autosomal dominant disease hereditary sensory and autonomic neuropathy type 1
External Links
Disease Ontology
DOID:0070157
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 45 in total
HPO ID HPO Term
HP:0000365 Hearing impairment
HP:0000962 Hyperkeratosis
HP:0001026 Penetrating foot ulcers
HP:0001058 Poor wound healing
HP:0001324 Muscle weakness
HP:0002020 Gastroesophageal reflux
HP:0002141 Gait imbalance
HP:0002270 Abnormality of the autonomic nervous system
HP:0002460 Distal muscle weakness
HP:0002540 Inability to walk
Displaying all 2 entries
Gene ID Gene Symbol Description
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 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