Homepage > Rare diseases > Search

Search for a rare disease

*
(*) mandatory field

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Suggest an update
Your message has been sent Your message has not been sent. Please contact an administrator.
Disease definition

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).

ORPHA:506334

Classification level: Disorder

Synonym(s):
  • Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
  • SPLIS
  • Sphingosine phosphate lyase insufficiency syndrome

Prevalence: -

Inheritance: Autosomal recessive

Age of onset:

ICD-10: E88.8

OMIM: 617575

UMLS: C5568768

GARD: 13818

A summary on this disease is available in Français (2020) Español (2020) Nederlands (2020)
Detailed information
Guidelines
Clinical practice guidelines
English (2020) - Pediatr Nephrol Logo ERN
English (2014) - Am J Kidney Dis Logo ERN
English (2014) - J Intern Med Logo ERN
English (2021) - Kidney Int Logo ERN
Disease review articles
Clinical genetics review
English (2020) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.