Details of Disease | DrugMAP

General Information of Disease (ID: DIS8X0WN)

Disease Name	Familial episodic pain syndrome with predominantly upper body involvement
Synonyms	FEPS1; episodic pain syndrome, familial, 1; episodic pain syndrome, familial, type 1
Disease Hierarchy	DISOD1KW: Familial episodic pain syndrome DIS8X0WN: Familial episodic pain syndrome with predominantly upper body involvement
Disease Identifiers	MONDO ID MONDO_0014021 UMLS CUI C3808667 OMIM ID 615040 MedGen ID 814997 Orphanet ID 391389

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
TRPA1	TTELV3W	Supportive	Autosomal dominant	[1]
TRPA1	TTELV3W	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPA1	OTRDIR5M	Supportive	Autosomal dominant	[1]
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References

1	A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron. 2010 Jun 10;66(5):671-80. doi: 10.1016/j.neuron.2010.04.030.
2	A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.Clin Genet. 2018 Jan;93(1):164-168. doi: 10.1111/cge.13040. Epub 2017 Jul 10.