Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanFamilial steroid-resistant nephrotic syndrome with adrenal insufficiency
ORPHA:506334Disease
Also called Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency · SPLIS · Sphingosine phosphate lyase insufficiency syndrome
What it is
A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.