hereditary sensory and autonomic neuropathy type 1A

Summary
Synonym
  • HSAN1A
  • hereditary sensory and autonomic neuropathy type IA
Definition
A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
Super Class
autosomal dominant disease hereditary sensory and autonomic neuropathy type 1
External Links
Disease Ontology
DOID:0070152
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
189 AGXT alanine--glyoxylate aminotransferase
2619 GAS1 growth arrest specific 1
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P54826 Growth arrest-specific protein 1
The Human Phenotype Ontology
Displaying entries 41 - 47 of 47 in total
HPO ID HPO Term
HP:0001284 Areflexia
HP:0007267 Chronic axonal neuropathy
HP:0001761 Pes cavus
HP:0003202 Skeletal muscle atrophy
HP:0000518 Cataract
HP:0003448 Decreased sensory nerve conduction velocity
HP:0002378 Hand tremor
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