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GTR Home > Conditions/Phenotypes > Familial episodic pain syndrome with predominantly upper body involvement

Familial episodic pain syndrome with predominantly upper body involvement

Synonyms
Familial episodic pain syndrome 1
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). Genetic Heterogeneity of Familial Episodic Pain Syndrome See also FEPS2 (615551), caused by mutation in the SCN10A gene (604427) on chromosome 3p22, and FEPS3 (615552), caused by mutation in the SCN11A gene (604385) on chromosome 3p22. [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANKTM1, FEPS, FEPS1, p120, TRPA1
    Summary: transient receptor potential cation channel subfamily A member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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