Details of Disease | DrugMAP

General Information of Disease (ID: DISRR1LN)

Disease Name	Primary erythermalgia
Synonyms	small fibre neuropathy; erythromelalgia, primary; neuropathy, small fiber; neuropathy, small fibre; small fiber neuropathy; erythromelalgia, familial; erythermalgia, primary; Mitchell disease (formerly); primary erythromelalgia; PERYTHM
Definition	Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.\|Editor note: consider link to MONDO:0016028
Disease Hierarchy	DIS1IW05: Erythromelalgia DISRR1LN: Primary erythermalgia
Disease Identifiers	MONDO ID MONDO_0007571 MESH ID D004916 UMLS CUI C0014805 OMIM ID 133020 MedGen ID 8688 Orphanet ID 90026 SNOMED CT ID 403390002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN9A	TT4G2JS	Limited	Genetic Variation	[1]
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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	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCF2L2	OTOGFMIH	Strong	Genetic Variation	[1]
SCN9A	OTGSKLL8	Definitive	Autosomal dominant	[2]
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References

1	A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7.Curr Mol Med. 2017;17(6):450-457. doi: 10.2174/1566524017666171009105029.
2	Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet. 2004 Mar;41(3):171-4. doi: 10.1136/jmg.2003.012153.