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Erythermalgia

GtoPdb Disease Summaries

This section gives an overview of the disease, and where available shows the following:

  • Synonyms: Shows known synonyms for the disease.
  • Description: Gives a basic description/definition of the disease.
  • Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
  • Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
  • Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.

More information can be found in the help pages.

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Disease ID:333
Name:Erythermalgia
Associated with:1 target
Synonyms
Primary erythermalgia | Sodium channelopathy-related small fiber neuropathy
Database Links
OMIM: 133020
Orphanet: ORPHA1956, ORPHA90026, ORPHA306577

Targets

GtoPdb Disease Summaries - Targets

Click on the target name to link to its detailed view page

Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.

If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page

Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.

More information can be found in the help pages.

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Key to terms and symbols
Nav1.7
Role:  Nav1.7 mutations cause burning pain and flushing of the extremities.
References:  6,8,10-11,25-27
Mutations:  Nav1.7 is associated with 28 mutation. Click here for details

Ligands

GtoPdb Disease Summaries - Ligands

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  • Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
  • Immuno: Immuno icon indicates the ligand is immuno-relevant

Click the arrow in the final column to expand comments

  • Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
  • Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
  • Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.

More information can be found in the help pages.

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No ligand related data available for Erythermalgia

References

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1. Ahn HS, Dib-Hajj SD, Cox JJ, Tyrrell L, Elmslie FV, Clarke AA, Drenth JP, Woods CG, Waxman SG. (2010) A new Nav1.7 sodium channel mutation I234T in a child with severe pain. Eur J Pain, 14 (9): 944-50. [PMID:20385509]

2. Cheng X, Dib-Hajj SD, Tyrrell L, Te Morsche RH, Drenth JP, Waxman SG. (2011) Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability. Brain, 134 (Pt 7): 1972-86. [PMID:21705421]

3. Cheng X, Dib-Hajj SD, Tyrrell L, Waxman SG. (2008) Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade. Mol Pain, 4: 1. [PMID:18171466]

4. Cheng X, Dib-Hajj SD, Tyrrell L, Wright DA, Fischer TZ, Waxman SG. (2010) Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders. Mol Pain, 6: 24. [PMID:20429905]

5. Choi JS, Cheng X, Foster E, Leffler A, Tyrrell L, Te Morsche RH, Eastman EM, Jansen HJ, Huehne K, Nau C et al.. (2010) Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia. Brain, 133 (Pt 6): 1823-35. [PMID:20478850]

6. Choi JS, Dib-Hajj SD, Waxman SG. (2006) Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. Neurology, 67 (9): 1563-7. [PMID:16988069]

7. Choi JS, Zhang L, Dib-Hajj SD, Han C, Tyrrell L, Lin Z, Wang X, Yang Y, Waxman SG. (2009) Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off. Exp Neurol, 216 (2): 383-9. [PMID:19162012]

8. Coulter DA, Rafiq A, Shumate M, Gong QZ, DeLorenzo RJ, Lyeth BG. (1996) Brain injury-induced enhanced limbic epileptogenesis: anatomical and physiological parallels to an animal model of temporal lobe epilepsy. Epilepsy Res, 26 (1): 81-91. [PMID:8985690]

9. Cummins TR, Dib-Hajj SD, Waxman SG. (2004) Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. J Neurosci, 24 (38): 8232-6. [PMID:15385606]

10. Dib-Hajj SD, Cummins TR, Black JA, Waxman SG. (2010) Sodium channels in normal and pathological pain. Annu Rev Neurosci, 33: 325-47. [PMID:20367448]

11. Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG. (2005) Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain, 128 (Pt 8): 1847-54. [PMID:15958509]

12. Drenth JP, te Morsche RH, Guillet G, Taieb A, Kirby RL, Jansen JB. (2005) SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J Invest Dermatol, 124 (6): 1333-8. [PMID:15955112]

13. Estacion M, Choi JS, Eastman EM, Lin Z, Li Y, Tyrrell L, Yang Y, Dib-Hajj SD, Waxman SG. (2010) Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation. J Physiol (Lond.), 588 (Pt 11): 1915-27. [PMID:20123784]

14. Estacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ, Drenth JP, Waxman SG. (2008) NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J Neurosci, 28 (43): 11079-88. [PMID:18945915]

15. Estacion M, Han C, Choi JS, Hoeijmakers JG, Lauria G, Drenth JP, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies IS et al.. (2011) Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7. Mol Pain, 7: 92. [PMID:22136189]

16. Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM et al.. (2012) Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol, 71 (1): 26-39. [PMID:21698661]

17. Fischer TZ, Gilmore ES, Estacion M, Eastman E, Taylor S, Melanson M, Dib-Hajj SD, Waxman SG. (2009) A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. Ann Neurol, 65 (6): 733-41. [PMID:19557861]

18. Han C, Dib-Hajj SD, Lin Z, Li Y, Eastman EM, Tyrrell L, Cao X, Yang Y, Waxman SG. (2009) Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain, 132 (Pt 7): 1711-22. [PMID:19369487]

19. Han C, Hoeijmakers JG, Ahn HS, Zhao P, Shah P, Lauria G, Gerrits MM, te Morsche RH, Dib-Hajj SD, Drenth JP et al.. (2012) Nav1.7-related small fiber neuropathy: impaired slow-inactivation and DRG neuron hyperexcitability. Neurology, 78 (21): 1635-43. [PMID:22539570]

20. Han C, Hoeijmakers JG, Liu S, Gerrits MM, te Morsche RH, Lauria G, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS et al.. (2012) Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy. Brain, 135 (Pt 9): 2613-28. [PMID:22826602]

21. Han C, Rush AM, Dib-Hajj SD, Li S, Xu Z, Wang Y, Tyrrell L, Wang X, Yang Y, Waxman SG. (2006) Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. Ann Neurol, 59 (3): 553-8. [PMID:16392115]

22. Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, Rose JB, Waxman SG. (2006) Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons. J Neurosci, 26 (48): 12566-75. [PMID:17135418]

23. Lampert A, Dib-Hajj SD, Eastman EM, Tyrrell L, Lin Z, Yang Y, Waxman SG. (2009) Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials. Biochem Biophys Res Commun, 390 (2): 319-24. [PMID:19800314]

24. Lampert A, Dib-Hajj SD, Tyrrell L, Waxman SG. (2006) Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating. J Biol Chem, 281 (47): 36029-35. [PMID:17008310]

25. Michiels JJ, te Morsche RH, Jansen JB, Drenth JP. (2005) Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. Arch Neurol, 62 (10): 1587-90. [PMID:16216943]

26. Waxman SG, Dib-Hajj S. (2005) Erythermalgia: molecular basis for an inherited pain syndrome. Trends Mol Med, 11 (12): 555-62. [PMID:16278094]

27. Yang Y, Wang Y, Li S, Xu Z, Li H, Ma L, Fan J, Bu D, Liu B, Fan Z et al.. (2004) Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet, 41 (3): 171-4. [PMID:14985375]