Details of Disease | DrugMAP

General Information of Disease (ID: DISSLWI3)

Disease Name	Familial episodic pain syndrome with predominantly lower limb involvement
Synonyms	episodic pain syndrome, familial, 3; FEPS3; episodic pain syndrome, familial, type 3
Definition	A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISOD1KW: Familial episodic pain syndrome DISSLWI3: Familial episodic pain syndrome with predominantly lower limb involvement
Disease Identifiers	MONDO ID MONDO_0014247 UMLS CUI C3809899 OMIM ID 615552 MedGen ID 816229 Orphanet ID 391392

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN11A	TTN9VTF	moderate	Biomarker	[1]
SCN11A	TTN9VTF	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN11A	OTY0HJJZ	Definitive	Autosomal dominant	[2]
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References

1	Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor.J Hum Genet. 2017 Jun;62(6):641-646. doi: 10.1038/jhg.2017.21. Epub 2017 Mar 16.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.