Idiopathic steroid-sensitive nephrotic syndrome

Summary

Idiopathic steroid-sensitive nephrotic syndrome (MONDO:0019067) is a disease with 1 cohort gene.

At a glance

• Prevalence: Unknown (Europe)
• Cohort genes: 1
• Phenotypes (HPO): 2

Clinical features

Signs & symptoms

Clinical features (HPO)

2 HPO clinical features (Orphanet curated; top 2 by frequency):

HPO ID	Term	Frequency
HP:0000100	Nephrotic syndrome	Very frequent (80-99%)
HP:0001004	Lymphedema	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	idiopathic steroid-sensitive nephrotic syndrome
Mondo ID	MONDO:0019067
Orphanet	69061
GARD	0016678
Is cancer (heuristic)	no

Data availability: 1 GenCC gene-disease record.

Disease family

An umbrella term covering 4 Mondo subtypes.

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

Related subtypes (4): familial idiopathic steroid-resistant nephrotic syndrome, sporadic idiopathic steroid-resistant nephrotic syndrome, idiopathic multidrug-resistant nephrotic syndrome, idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy

Subtypes (4): idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis, idiopathic steroid-sensitive nephrotic syndrome with minimal change, idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation, idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

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
CENPI	Limited	X-linked	idiopathic steroid-sensitive nephrotic syndrome

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
CENPI	HGNC:3968	ENSG00000102384	Q92674	Centromere protein I	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CENPI	Centromere protein I	Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CENPI	Other/Unknown	no		CENP-I

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
oocyte	1
secondary oocyte	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CENPI	192	ubiquitous	marker	secondary oocyte, oocyte, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CENPI	4,030

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CENPI	Q92674	12

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 21. 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
Nucleosome assembly	1	475.8×	0.021	CENPI
Chromosome Maintenance	1	211.5×	0.021	CENPI
Amplification of signal from the kinetochores	1	196.9×	0.021	CENPI
Deposition of new CENPA-containing nucleosomes at the centromere	1	158.6×	0.021	CENPI
Mitotic Spindle Checkpoint	1	158.6×	0.021	CENPI
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	1	116.5×	0.021	CENPI
Mitotic Metaphase and Anaphase	1	96.8×	0.021	CENPI
Mitotic Anaphase	1	96.8×	0.021	CENPI
EML4 and NUDC in mitotic spindle formation	1	92.8×	0.021	CENPI
Cell Cycle Checkpoints	1	88.5×	0.021	CENPI
Resolution of Sister Chromatid Cohesion	1	86.5×	0.021	CENPI
RHO GTPases Activate Formins	1	77.7×	0.021	CENPI
Mitotic Prometaphase	1	69.2×	0.021	CENPI
RHO GTPase Effectors	1	68.0×	0.021	CENPI
M Phase	1	66.0×	0.021	CENPI
Separation of Sister Chromatids	1	60.7×	0.022	CENPI
Cell Cycle, Mitotic	1	48.2×	0.026	CENPI
Cell Cycle	1	36.0×	0.031	CENPI
Signaling by Rho GTPases	1	34.2×	0.031	CENPI
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1	33.5×	0.031	CENPI
Signal Transduction	1	10.2×	0.098	CENPI

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
CENP-A containing chromatin assembly	1	1532.0×	0.002	CENPI
sex differentiation	1	842.6×	0.002	CENPI
mitotic sister chromatid segregation	1	481.5×	0.003	CENPI
chromosome segregation	1	173.7×	0.006	CENPI

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CENPI	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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CENPI

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)
CENPI	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.