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spondyloepimetaphyseal dysplasia, Guo-Campeau type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, Guo-Campeau type

MONDO:0958006

Overview

GeneticsAutosomal recessive · ERI1 (chr 8)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Short foot, Limited elbow extension, Short stature, and Trigonocephaly and others; and common findings: Pectus excavatum, Hydronephrosis, and Velopharyngeal insufficiency. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	10	Short foot, Finger aplasia, Absent toenail

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ERI1 encodes exoribonuclease 1 (349 aa). 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. Highest expression in Cells Cultured fibroblasts (13.9 TPM) and Testis (12.1 TPM).

Spondyloepimetaphyseal dysplasia, Guo-Campeau type is associated with mutations in the ERI1 gene on chromosome 8.

ERI1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ERI1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 51 always present features, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spondyloepimetaphyseal dysplasia, Guo-Campeau type.

1 publication has been identified in PubMed for spondyloepimetaphyseal dysplasia, Guo-Campeau type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Liu W (2025). [PMID: 39945916](https://pubmed.ncbi.nlm.nih.gov/39945916/). *Curr Osteoporos Rep*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620663

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spondyloepimetaphyseal dysplasia, Guo-Campeau type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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