※ PTMD 2.0 database Online Browse Options

Browse result for Familial cold autoinflammatory syndrome

※ introduction

    Cold urticaria (essentially meaning cold hives) is a disorder in which large red welts called hives (urticaria) form on the skin after exposure to a cold stimulus. The hives are usually itchy and often the hands and feet will become itchy and swollen as well. Hives vary in size from about 7 mm in diameter to as big as about 27 mm or larger. This disorder, or perhaps two disorders with the same clinical manifestations, can be inherited (familial cold urticaria) or acquired (primary acquired cold urticaria). The acquired form is most likely to begin between ages 18 and 25, although it can occur as early as 5 years old in some cases. Life-threatening risks include suffocation resulting from swollen tissue (pharyngeal angioedema) induced by cold foods or beverages, drowning after shock from swimming in cold water, and anaphylactic shock.

Reference
Wiki: Familial cold autoinflammatory syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00543P168855336
PLCG2
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
Homo sapiens
PTMD01863Q96P2011454
NLRP3
NACHT, LRR and PYD domains-containing protein 3
Homo sapiens
PTMD05743P5904691662
NLRP12
NACHT, LRR and PYD domains-containing protein 12
Homo sapiens