Details of Disease

General Information of Disease (ID: DISNHO6B)

Disease Name Paroxysmal extreme pain disorder
Synonyms
rectal pain, familial; familial rectal syndrome; PEPD; Pexpd; submandibular, ocular, and rectal pain with flushing; pain, submandibular, ocular, and rectal, with flushing; familial rectal pain; paroxysmal extreme pain disorder
Definition Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DIS4RWOW: Pain
DISNHO6B: Paroxysmal extreme pain disorder
Disease Identifiers
MONDO ID
MONDO_0008179
MESH ID
C563475
UMLS CUI
C1833661
OMIM ID
167400
MedGen ID
331565
Orphanet ID
46348
SNOMED CT ID
699190008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN9A TT4G2JS Limited Genetic Variation [1]
KCNQ3 TTIVDM3 Strong Biomarker [2]
SCN2A TTLJTUF Strong Biomarker [2]
IDS TTNY2AP Definitive Genetic Variation [3]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN9A DTQC85B Strong Autosomal dominant [4]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN1B OTGD78J3 Strong Biomarker [2]
SCN9A OTGSKLL8 Strong Autosomal dominant [4]
CPSF4 OT53UK5L Definitive Biomarker [5]
MCF2L2 OTOGFMIH Definitive Genetic Variation [6]
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References

1 Characterisation of Nav1.7 functional expression in rat dorsal root ganglia neurons by using an electrical field stimulation assay.Mol Pain. 2017 Jan-Dec;13:1744806917745179. doi: 10.1177/1744806917745179. Epub 2017 Nov 22.
2 Molecular genetics of infantile nervous system channelopathies.Early Hum Dev. 2006 Dec;82(12):775-9. doi: 10.1016/j.earlhumdev.2006.09.013. Epub 2006 Oct 17.
3 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.J Clin Invest. 2010 Jan;120(1):369-78. doi: 10.1172/JCI40801. Epub 2009 Dec 28.
4 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 2006 Dec 7;52(5):767-74. doi: 10.1016/j.neuron.2006.10.006.
5 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.J Physiol. 2011 Feb 1;589(Pt 3):597-608. doi: 10.1113/jphysiol.2010.200915. Epub 2010 Nov 29.
6 Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.Mol Pain. 2008 Sep 19;4:37. doi: 10.1186/1744-8069-4-37.