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SGPL1-sEDD

Previously: RENI syndrome, sphingosine 1-phosphate lyase insufficiency (SPLIS)

sEDD Gene: SGPL1 AR

Onset: Infancy, early childhood

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

Generalized scaling, hyperpigmentation.

Additional Cutaneous Features

Skin thickening.

Additional Extracutaneous Features

Adrenal insufficiency, nephrotic syndrome, neurological defects, immunodeficiency, skeletal abnormalities.

References

Smith CJ, Williams JL, Hall C et al. Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation. J Lipid Res 2023; 64:100351. || Lovric S, Goncalves S, Gee HY et al. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 2017; 127:912-28.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer