Sphingosine phosphate lyase insufficiency syndrome

Disease Overview

Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a very rare condition that affects the kidneys, adrenal glands and nervous system.  Symptoms vary from individual to individual, but most people with SPLIS have signs of abnormal kidney and adrenal gland function, which can include a build- up of extra fluid, vomiting and diarrhea.  Some people with SPLIS have dry, scaly, cracked or darkened skin and problems with their immune system.  Some people with SPLIS have neurological problems that can include nerve-related hearing loss, a drooping eyelid, tingling in arms and legs, difficulty moving limbs, or seizures [15420][15421]. SPLIS is caused by genetic changes (mutations) of the sphingosine-1-phosphate lyase 1 gene (SGPL1) and is inherited in an autosomal recessive pattern [15422]. SPLIS is diagnosed based on the symptoms, clinical examination, and through genetic testing. There is no specific treatment for SPLIS [15423]. Medication and supportive care can help with some of the symptoms. The long-term outlook for people with these disorders is unknown.

Synonyms

• SGPL1 disorder
• Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
• SPL insufficiency syndrome
• SPLIS
• Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
• Primary adrenal insufficiency-steroid-resistant nephrotic syndrome
• Nephrotic syndrome type 14