Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

disease

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Summary

Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (MONDO:0958193) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
Mondo ID	MONDO:0958193
OMIM	620425
UMLS	C5830590
MedGen	1841226
Is cancer (heuristic)	no

Data availability: 5 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › cataracts, hearing impairment, nephrotic syndrome, and enterocolitis › cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

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

ClinVar germline variants

5 retrieved; paginated sample, class counts are floors:

4 uncertain significance, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2506513	NM_018648.4(NOP10):c.47C>T (p.Thr16Met)	NOP10	Pathogenic	no assertion criteria provided
3577075	NM_018648.4(NOP10):c.-10A>G	LOC130056750	Uncertain significance	criteria provided, single submitter
1054213	NM_018648.4(NOP10):c.31G>A (p.Gly11Arg)	NOP10	Uncertain significance	criteria provided, multiple submitters, no conflicts
1428113	NM_018648.4(NOP10):c.75A>T (p.Gln25His)	NOP10	Uncertain significance	criteria provided, multiple submitters, no conflicts
3577074	NM_018648.4(NOP10):c.25G>A (p.Glu9Lys)	NOP10	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NOP10	Orphanet:1775	Dyskeratosis congenita

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
NOP10	HGNC:14378	ENSG00000182117	Q9NPE3	H/ACA ribonucleoprotein complex subunit 3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NOP10	H/ACA ribonucleoprotein complex subunit 3	Required for ribosome biogenesis and telomere maintenance.

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)
NOP10	Other/Unknown	no		H/ACA_rnp_Nop10, H/ACA_rnp_Nop10_sf

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
leukocyte	1
monocyte	1
rectum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NOP10	286	ubiquitous	marker	monocyte, rectum, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NOP10	2,488

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NOP10	Q9NPE3	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. 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
Telomere Extension By Telomerase	1	456.8×	0.004	NOP10
rRNA modification in the nucleus and cytosol	1	187.2×	0.005	NOP10

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
pseudouridine synthesis	1	5617.3×	4e-04	NOP10
snRNA pseudouridine synthesis	1	5617.3×	4e-04	NOP10
rRNA pseudouridine synthesis	1	4213.0×	4e-04	NOP10
telomerase RNA localization to Cajal body	1	2407.4×	5e-04	NOP10
telomere maintenance via telomerase	1	732.7×	0.001	NOP10

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
NOP10	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
NOP10	1	Binding:1

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	NOP10

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)
NOP10	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: NOP10