RGD Reference Report - Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

Authors: Michiels, JJ  Te Morsche, RH  Jansen, JB  Drenth, JP 
Citation: Michiels JJ, etal., Arch Neurol. 2005 Oct;62(10):1587-90.
RGD ID: 1599517
Pubmed: PMID:16216943   (View Abstract at PubMed)
DOI: DOI:10.1001/archneur.62.10.1587   (Journal Full-text)

BACKGROUND: Autosomal dominant primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. OBJECTIVE: To describe the phenotypes and molecular data of a 10-member family with 5 symptomatic living patients with erythermalgia. RESULTS: The clinical phenotype of this family was featured by episodic or continuous symmetrical red swelling, irritating warmth, and burning pain of feet and lower legs provoked or aggravated by warmth and exercise, and relief was always obtained by application of cold, such as putting feet in (ice-) cold water. The symptoms in this family were only partially controlled by analgesics and sedatives. All affected family members were heterozygous for a novel mutation (S241T) of the voltage-gated sodium channel alpha subunit Nav1.7. CONCLUSION: Primary erythermalgia may be a neuropathic disorder of the small peripheral sensory and sympathetic neurons, and may be caused by hyperexcitability of Nav1.7.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
erythromelalgia  IAGP 1599517 RGD 
erythromelalgia  ISOSCN9A (Homo sapiens)1599517; 1599517 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Scn9a  (sodium voltage-gated channel alpha subunit 9)

Genes (Mus musculus)
Scn9a  (sodium channel, voltage-gated, type IX, alpha)

Genes (Homo sapiens)
SCN9A  (sodium voltage-gated channel alpha subunit 9)


Additional Information