Crisponi/cold-Induced Sweating Syndrome 1 (CISS1)

Alias:

Crisponi Syndrome

Cold-Induced Sweating Syndrome 1

Sohar-Crisponi Syndrome

Ciss1

Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death

Muscle Contractions Tetanoform with Characteristic Face Camptodactyly Hyperthermia and Sudden Death

Sweating Syndrome, Cold-Induced

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Crisponi/cold-Induced Sweating Syndrome 1, also known as crisponi syndrome, is related to crisponi/cold-induced sweating syndrome 2 and cold-induced sweating syndrome including crisponi syndrome, and has symptoms including dyspnea, opisthotonus and facial paresis. An important gene associated with Crisponi/cold-Induced Sweating Syndrome 1 is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are Translation Insulin regulation of translation and Interleukin-6 family signaling. Affiliated tissues include brain, and related phenotypes are scoliosis and large face

Related ID：

MALACARDS：CRS016

OMIM：272430

MESH：D000015