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spondyloepimetaphyseal dysplasia, Li-Shao-Li type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, Li-Shao-Li type

MONDO:0976230

Overview

GeneticsAutosomal dominant · CCN2 (chr 6)

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: Irregular vertebral endplates, Broad femoral neck, Sideways curvature of the spine (scoliosis), and Sclerotic vertebral endplates and others; and very common findings: Joint swelling, Limitation of joint mobility, and Arthralgia. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	13	Joint swelling, Irregular vertebral endplates, Broad femoral neck

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.

CCN2 encodes cellular communication network factor 2 (349 aa). Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Highest expression in Artery Aorta (2,043 TPM) and Artery Coronary (1,105 TPM).

Spondyloepimetaphyseal dysplasia, Li-Shao-Li type is associated with mutations in the CCN2 gene on chromosome 6.

The CCN2 protein participates in Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell pathway.

CCN2 is classified as a druggable target (Druggable Genome category) with score 4.0.

Diagnosis

Genetic testing for CCN2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 3 very common 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, Li-Shao-Li type.

1 publication has been identified in PubMed for spondyloepimetaphyseal dysplasia, Li-Shao-Li type. Research spans Basic Science / Preclinical (100%).

Recent Publications

Li S (2024). [PMID: 39414788](https://pubmed.ncbi.nlm.nih.gov/39414788/). *Bone Res*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621099

Questions for Your Care Team

→Should I pursue genetic testing for CCN2, and what would the results mean for my family?
→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, Li-Shao-Li 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

Questions for Your Care Team

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