Nephrotic syndrome of childhood - steroid sensitive

Summary

Nephrotic syndrome of childhood - steroid sensitive (MONDO:0044781) is a disease with 1 cohort gene and 7 clinical trials. Top therapeutic interventions include prednisolone.

At a glance

• Cohort genes: 1
• Clinical trials: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nephrotic syndrome of childhood - steroid sensitive
Mondo ID	MONDO:0044781
NCIT	C122797
SNOMED CT	236380004
UMLS	C0403396
MedGen	588368
GARD	0027974
Is cancer (heuristic)	no

Also known as: nephrotic syndrome of childhood - steroid sensitive · steroid-responsive nephrotic syndrome · steroid-sensitive nephrotic syndrome

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › nephrotic syndrome › steroid-resistant nephrotic syndrome › nephrotic syndrome of childhood - steroid sensitive

Related subtypes (3): familial idiopathic steroid-resistant nephrotic syndrome, sporadic idiopathic steroid-resistant nephrotic syndrome, nephrotic syndrome 14

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
IL1RAP	Limited	Autosomal recessive	nephrotic syndrome of childhood - steroid sensitive

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
IL1RAP	HGNC:5995	ENSG00000196083	Q9NPH3	Interleukin-1 receptor accessory protein	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IL1RAP	Interleukin-1 receptor accessory protein	Coreceptor for IL1RL2 in the IL-36 signaling system.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IL1RAP	Antibody/Immunoglobulin	yes		TIR_dom, Ig_sub, IL-1_rcpt_I/II-typ

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
liver	1
placenta	1
right lobe of liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IL1RAP	230	ubiquitous	marker	right lobe of liver, liver, placenta

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IL1RAP	1,023

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IL1RAP	Q9NPH3	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interleukin-33 signaling	1	3806.7×	0.002	IL1RAP
Interleukin-36 pathway	1	1631.4×	0.002	IL1RAP
Receptor-type tyrosine-protein phosphatases	1	571.0×	0.004	IL1RAP
Interleukin-1 signaling	1	124.1×	0.012	IL1RAP
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	1	96.8×	0.012	IL1RAP
PIP3 activates AKT signaling	1	66.8×	0.015	IL1RAP

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
trans-synaptic signaling by trans-synaptic complex	1	5617.3×	0.003	IL1RAP
interleukin-33-mediated signaling pathway	1	2106.5×	0.003	IL1RAP
positive regulation of interleukin-5 production	1	1404.3×	0.003	IL1RAP
positive regulation of interleukin-13 production	1	1123.5×	0.003	IL1RAP
regulation of postsynaptic density assembly	1	887.0×	0.003	IL1RAP
interleukin-1-mediated signaling pathway	1	802.5×	0.003	IL1RAP
synaptic membrane adhesion	1	581.1×	0.003	IL1RAP
positive regulation of interleukin-4 production	1	561.7×	0.003	IL1RAP
regulation of presynapse assembly	1	543.6×	0.003	IL1RAP
positive regulation of synapse assembly	1	244.2×	0.007	IL1RAP
positive regulation of interleukin-6 production	1	166.8×	0.009	IL1RAP
cytokine-mediated signaling pathway	1	130.6×	0.010	IL1RAP
protein-containing complex assembly	1	113.9×	0.011	IL1RAP
immune response	1	47.1×	0.024	IL1RAP
inflammatory response	1	37.7×	0.028	IL1RAP
innate immune response	1	33.6×	0.030	IL1RAP

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IL1RAP	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	IL1RAP
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
IL1RAP	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE3	2
PHASE2/PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05786768	PHASE2/PHASE3	RECRUITING	Efficacy and Safety of Obinutuzumab Versus Rituximab in Childhood Steroid Dependant and Frequent Relapsing Nephrotic Syndrome
NCT05850546	PHASE3	NOT_YET_RECRUITING	Rituximab in the First Episode of Paediatric Nephrotic Syndrome
NCT04536181	PHASE3	WITHDRAWN	Study of Initial Steroid Treatment in Young Children With Nephrotic Syndrome
NCT04783675	PHASE2	COMPLETED	Efficacy and Safety of Rituximab in the First Episode of Pediatric Idiopathic Nephrotic Syndrome
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT04713410	Not specified	UNKNOWN	Comparison of Relapse Rate After 12 Weeks Verses 20 Weeks Steroid Therapy for the Management of First Episode of Steroid Sensitive Nephrotic Syndrome
NCT06860620	Not specified	COMPLETED	Efficacy of Zinc Supplementation in Maintaining Sustained Remission in Children With Steroid-sensitive Nephrotic Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PREDNISOLONE	4	2