ORPHA:506334
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Also known as: Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency · SPLIS · Sphingosine phosphate lyase insufficiency syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
231
77.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,212
Distinct authors in sample
Gene link
SGPL1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder with multisystemic involvement and glomerulopathy characterized by 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, , sensorineural hearing loss, or ).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0033203
- OMIM:617575
- UMLS:C4540559
Additional Mondo synonyms (8)
RENI syndrome · SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14 · familial steroid-resistant nephrotic syndrome with adrenal insufficiency · nephrotic syndrome 14 · nephrotic syndrome, type 14 · primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency · renal, endocrine, neurologic and immune syndrome · sphingosine phosphate lyase insufficiency syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SGPL1
- LiteraturePresent
231 matched papers (183 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 6 for broader category steroid-resistant nephrotic syndrome
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SGPL1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
231
231 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
231 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
183 in the last 10 years · high confidence · 77.3th percentile (publications denominator)
Phrase hits: 231 · MeSH hits: 0
Who's working on it?
1,212
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Saba JD20 papers · 2026
Department of Pediatrics, University of California, San Francisco, California, USA.
Papers in Europe PMC - 02Prasad R6 papers · 2023
Centre for Endocrinology, John Vane Science Centre, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
Papers in Europe PMC - 03Khan R5 papers · 2026
Department of Pediatrics, University of California, San Francisco, CA, USA.
Papers in Europe PMC - 04Alhasan K4 papers · 2024
Department of Pediatrics (K.A.), College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 05Buder K4 papers · 2026
Pediatric Nephrology Department, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
Papers in Europe PMC - 06Hildebrandt F4 papers · 2025
Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA. friedhelm.hildebrandt@childrens.harvard.edu.
Papers in Europe PMC - 07Hodgin JB4 papers · 2026
Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA.
Papers in Europe PMC - 08Keller N4 papers · 2024
Department of Pediatrics, UCSF, San Francisco, California, USA.
Papers in Europe PMC - 09Lee JY4 papers · 2026
Department of Pediatrics, UCSF, San Francisco, California, USA.
Papers in Europe PMC - 10Maharaj A4 papers · 2022
Centre for Endocrinology, John Vane Science Centre, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 6 trials are registered for steroid-resistant nephrotic syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
6 interventional trials matched steroid-resistant nephrotic syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: steroid-resistant nephrotic syndrome
6
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06622915·RECRUITING·Cardiac Performance Evaluation in Children With Steroid Dependent vs Steroid Resistant Nephrotic Syndrome
Conditions: Nephrotic Syndrome·Matched via name phrase
- NCT07003438·NOT YET RECRUITING·Study on the Efficacy and Safety of Fecal Microbiota Transplantation in the Treatment of Steroid - Dependent /Steroid-resistant Nephrotic Syndrome in Children
Conditions: Steroid-Resistant Nephrotic Syndrome · Steroid-Dependent Nephrotic Syndrome·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06669949·RECRUITING·Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
Conditions: Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency" OR "Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" OR "SPLIS" OR "Sphingosine phosphate lyase insufficiency syndrome" OR "RENI syndrome" OR "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14" OR "nephrotic syndrome 14" OR "nephrotic syndrome, type 14" OR "renal, endocrine, neurologic and immune syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency" OR "Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" OR "SPLIS" OR "Sphingosine phosphate lyase insufficiency syndrome" OR "RENI syndrome" OR "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14" OR "nephrotic syndrome 14" OR "nephrotic syndrome, type 14" OR "renal, endocrine, neurologic and immune syndrome" OR "SGPL1"
Recall-expansion terms: SGPL1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"steroid-resistant nephrotic syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:55:23.280Z