Tryptase Gene Variant

Tryptase gene variant linked to GI, joint, and skin symptoms

Researchers have identified a genetic variant associated with inherited elevated basal serum tryptase levels and linked to a distinct group of…
mdedge.com

Another new disease discovered. Till now, Fibromyalgia, Joint Hypermobility and Irritable Bowel Syndrome were the usual default diagnoses for this genetic condition.

Scientists Pinpoint Genetic Cause Behind Mysterious Disorder

Researchers from the National Institutes of Health unmask the genetic culprit behind a set of previously unexplainable symptoms.
medicaldaily.com|By Ed Cara

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Joshua Milner and colleagues show that increased TPSAB1 copy number causes a multisystem disorder marked by elevated basal serum tryptase levels. Shared symptoms in affected individuals include irritable bowel syndrome, cutaneous flushing and pruritus, connective tissue abnormalities and dysautonomi…
nature.com