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familial episodic pain syndrome 1

Summary

Synonym

FEPS1

Definition

A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13.

Super Class

autosomal dominant disease familial episodic pain syndrome

External Links

Disease Ontology

DOID:0111729

Mondo Disease Ontology

MONDO:0014021

ORDO

391389

OMIM

615040

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
8989	TRPA1	transient receptor potential cation channel subfamily A member 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
277328	Trpa1	transient receptor potential cation channel, subfamily A, member 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
312896	Trpa1	transient receptor potential cation channel, subfamily A, member 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
39015	TrpA1	Transient receptor potential cation channel A1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
178118	trpa-1	Ion transport domain-containing protein;Transient receptor potential cation channel subfamily A member 1 homolog	Alliance of Genome Resources