DISEASES

Disease-gene associations mined from literature

Human genes for hereditary alpha tryptasemia syndrome

Hereditary alpha tryptasemia syndrome [DOID:0080714]

A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems." [url:https\://pubmed.ncbi.nlm.nih.gov/27749843/, url:https\://pubmed.ncbi.nlm.nih.gov/30007465/, url:https\://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome] {comment="url:https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq"}

Synonyms:  hereditary alpha tryptasemia syndrome,  DOID:0080714,  hereditary alpha tryptasemia disease,  hereditary alpha tryptasemia disorder,  familial alpha tryptasemia syndrome ...