<unk>  (OMIM#609313), also known as "syndrome de Kamouraska" (syndrome from Kamouraska), is a genetic disorder that is caused by mutations to the AP1S1 gene. Transmission of the disease is believed to be autosomal recessive. Symptoms of the syndrome are intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, and keratoderma<unk> . The disorder was discovered by Dr. Patrick Cossette and his research team from the Université de Montréal.<unk>  was initially reported in a few French-Canadian families near Quebec who all shared common ancestors.<unk>  has been shown to create a defect in copper metabolism. Before<unk> , the only two inherited copper metabolism disorders known were Menkes disease and Wilson's disease. Menkes and Wilson's disease are both caused by mutations in copper ATPases that are distinct for each disease. Both ATPases, ATP7A (Menkes) and ATP7B (Wilson's) are located in the trans-Golgi network and are responsible for transporting copper to cuproenzymes synthesized within the secretory compartments. Patients with<unk>  have been shown to display combined clinical and biochemical signs of both Menkes and Wilson's diseases. The transport of copper, recycling of copper ATPases, and copper detoxification are reliant on proper intracellular copper trafficking. The defect in the AP1S1 gene causes improper function and trafficking of copper ATPases resulting in less retention in the trans-Golgi and excess copper in the plasma membrane.
MEDNIK syndrome
ATR-16 syndrome
ATR-X syndrome
ZTTK syndrome
CAMFAK syndrome
Treacher Collins syndrome
LIG4 syndrome
Dennie–Marfan syndrome