Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

epiphyseal dysplasia, multiple, 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epiphyseal dysplasia, multiple, 7

MONDO:0054680

Also known as:multiple epiphyseal dysplasia type 7EDM7multiple epiphyseal dysplasia 7

Overview

GeneticsAutosomal recessive · CANT1 (chr 17)

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 femoral neck, Genu varum, Advanced ossification of carpal bones, and Platyspondyly and others.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Short femoral neck, Advanced ossification of carpal bones, Vertebral wedging

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.

CANT1 encodes calcium activated nucleotidase 1 (401 aa). Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Highest expression in Cells Cultured fibroblasts (53.0 TPM) and Prostate (51.8 TPM).

Epiphyseal dysplasia, multiple, 7 is associated with mutations in the CANT1 gene on chromosome 17.

CANT1 is classified as a druggable target (Clinically Actionable and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for CANT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for epiphyseal dysplasia, multiple, 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 epiphyseal dysplasia, multiple, 7.

172 publications have been identified in PubMed for epiphyseal dysplasia, multiple, 7. Research spans Basic Science / Preclinical (24%), Case Report / Case Series (21%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Laboratory research	42	24%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617719

Orphanet

European rare disease database

Orphanet:647676

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?

← Back to All Diseases

Kisho

epiphyseal dysplasia, multiple, 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

epiphyseal dysplasia, multiple, 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications