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embryonal rhabdomyosarcoma (ERMS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

embryonal rhabdomyosarcoma

MONDO:0009993

Also known as:ERMSembryonal rhabdomyosarcoma (disease)rhabdomyosarcoma, embryonal, type 1

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Overview

A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.

GeneticsAutosomal recessive · SLC67A1 (chr 11)

Clinical Trials6 registered · 3 recruiting

Clinical Presentation

Features include: Embryonal rhabdomyosarcoma.

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Genetic Landscape

SLC67A1 function has not been fully characterized.

Embryonal rhabdomyosarcoma is associated with mutations in the SLC67A1 gene on chromosome 11.

Diagnosis

Genetic testing for SLC67A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for embryonal rhabdomyosarcoma has been reported in the published literature.

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.

6 clinical trials registered, 3 recruiting. Interventions under study include drug therapy, procedural interventions, other interventions, and biologic therapy. Pipeline includes 4 PHASE3. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT02567435](https://clinicaltrials.gov/study/NCT02567435)

Data assembled from 7 of 12 sources · Last updated Oct 4, 2026, 6:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:268210

Orphanet

European rare disease database

Orphanet:99757

GARD

Genetic and Rare Diseases Info Center

GARD:4702

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 6 active clinical trials a good fit for my situation?
→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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Research Type	Count	% of Total
Patient case studies	92	51%
Research summaries	26	14%
Disease patterns and progression	21	12%
Laboratory research	18	10%
Testing and diagnosis research	11	6%
Other research	4	2%
Clinical study results	4	2%
New treatment approaches	4	2%

embryonal rhabdomyosarcoma

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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