SPLIS Awareness
Because awareness is the first step toward healing and hope.
What is SPLIS?
Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) is a rare genetic condition caused by changes in the SGPL1 gene. These genetic changes prevent the body from breaking down specific lipids, which then interfere with normal cellular processes.
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SPLIS can affect multiple organ systems, including the kidneys, adrenal glands, immune system, thyroid, nervous system, and skin. It is an autosomal recessive condition, meaning both parents must carry one copy of the gene variant for a child to be affected.
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The condition was only discovered in early 2017. Fewer than 100 cases have been identified worldwide. Today, when a case is known earlier, swift interventions like increased testing, steroid support, vitamin B-6 administration under professional care, and timely dialysis can improve quality of life.
Other Names You May See for SPLIS
Because SPLIS impacts several systems in the body, different medical databases use different names to describe it. All of the names below refer to the same SGPL1-related condition:
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RENI Syndrome
Renal, Endocrine, Neurologic & Immune Syndrome- highlighting the broad system involvement.
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Nephrotic Syndrome, Type 14 (NPHS14)
This name focuses on the kidney manifestation of SPLIS, particularly significant protein loss (nephrotic syndrome). There are many forms of nephrotic syndrome, “Type 14” refers specifically to SGPL1-related disease.
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SGPL1 Deficiency
A simplified, gene-centered name used in clinical genetics.
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Sphingosine-1-Phosphate Lyase Deficiency
A molecular name describing the enzyme that is disrupted in SPLIS.
Listing these names helps families, clinicians, and researchers find accurate information more quickly and supports earlier diagnosis. At Kaya Girl Legacy, we include all recognized names for SPLIS to strengthen early identification, improve research connections, and make information easier to access for every family searching for answers.
Current Research & Medical Advancements
There is ongoing genetic research that gives families like ours hope. SPLIS is rare, but far from forgotten.
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Dr. Julie Saba, a pediatric medical researcher based at the University of California, San Francisco (UCSF), is leading several significant SPLIS-focused efforts:
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Gene Therapy Research (2022–2024), funded by CIRM
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Natural History Study (2025–2030), which is helping families and clinicians better understand SPLIS progression
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Past work in sphingolipid biology, which laid the foundation for current SPLIS research developments
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These efforts aim to deepen our understanding of what SPLIS does to the kidneys — and allow families to keep contributing to a cure one step at a time.
Support Groups & Community
No one should navigate a rare disease alone. There is an incredible community of families, caregivers, and advocates walking this journey together.
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SPLIS Parent and Patient Support Group on Facebook — a private group where families share experiences, ask questions, and offer mutual encouragement
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Kaya Girl Legacy — dedicated to raising awareness about genetic testing and SPLIS, while creating a community rooted in faith, education, and support
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Whether you are newly diagnosed or have questions about genetic testing, there is a community ready to walk with you.