spondyloepimetaphyseal dysplasia, Guo-Campeau type

disease

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Summary

spondyloepimetaphyseal dysplasia, Guo-Campeau type (MONDO:0958006) is a disease caused by ERI1 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: ERI1 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	spondyloepimetaphyseal dysplasia, Guo-Campeau type
Mondo ID	MONDO:0958006
OMIM	620663
UMLS	C5882737
MedGen	1844202
GARD	0026907
Is cancer (heuristic)	no

Data availability: 7 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › osteochondrodysplasia › spondyloepimetaphyseal dysplasia › spondyloepimetaphyseal dysplasia, Guo-Campeau type

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

7 retrieved; paginated sample, class counts are floors:

6 likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2674627	NM_153332.4(ERI1):c.893A>C (p.Asp298Ala)	ERI1	Pathogenic	no assertion criteria provided
1686779	NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)	ERI1	Likely pathogenic	criteria provided, single submitter
1686780	NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)	ERI1	Likely pathogenic	criteria provided, single submitter
2674625	NM_153332.4(ERI1):c.450A>T (p.Glu150Asp)	ERI1	Likely pathogenic	criteria provided, single submitter
2674626	NM_153332.4(ERI1):c.893A>G (p.Asp298Gly)	ERI1	Likely pathogenic	criteria provided, single submitter
2674628	NM_153332.4(ERI1):c.464C>T (p.Pro155Leu)	ERI1	Likely pathogenic	criteria provided, single submitter
2674629	NM_153332.4(ERI1):c.62C>A (p.Ser21Ter)	ERI1	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
ERI1	Strong	Autosomal recessive	spondyloepimetaphyseal dysplasia, Guo-Campeau type	4

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
ERI1	HGNC:23994	ENSG00000104626	Q8IV48	3’-5’ exoribonuclease 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ERI1	3’-5’ exoribonuclease 1	RNA exonuclease that binds to the 3’-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication.

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)
ERI1	Other/Unknown	no		SAP_dom, RNaseH-like_sf, Ribonucl_H

Expression context

Cohort genes with no expression data: 0.

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
primordial germ cell in gonad	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ERI1	211	ubiquitous	yes	secondary oocyte, primordial germ cell in gonad, oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ERI1	1,391

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ERI1	Q8IV48	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Major pathway of rRNA processing in the nucleolus and cytosol	1	61.7×	0.016	ERI1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
rRNA 3’-end processing	1	5617.3×	7e-04	ERI1
exonucleolytic trimming to generate mature 3’-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1	2407.4×	8e-04	ERI1
maturation of 5.8S rRNA	1	1053.2×	0.001	ERI1
regulatory ncRNA-mediated gene silencing	1	674.1×	0.001	ERI1

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
ERI1	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	ERI1

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)
ERI1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: ERI1