Alkuraya-Kucinskas Syndrome (ALKKUCS)

Alkuraya-Kucinskas Syndrome, also known as alkkucs, is related to arthrogryposis syndrome and trombiculiasis, and has symptoms including arthralgia, metatarsalgia and muscle cramp. An important gene associated with Alkuraya-Kucinskas Syndrome is BLTP1 (Bridge-Like Lipid Transfer Protein Family Member 1), and among its related pathways/superpathways is Rab regulation of trafficking. The drugs Tolvaptan and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include brain and kidney, and related phenotypes are seizure and hydrocephalus