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Phelan-McDermid syndrome due to SHANK3 mutation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Phelan-McDermid syndrome due to SHANK3 mutation

MONDO:0971069

Overview

Patient Orgs1 organizations · Phelan-McDermid Syndrome Foundation

Diagnosis

Biomarker and diagnostic research for Phelan-McDermid syndrome due to SHANK3 mutation 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.

No clinical trials have been registered for Phelan-McDermid syndrome due to SHANK3 mutation.

40 publications have been identified in PubMed for Phelan-McDermid syndrome due to SHANK3 mutation. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (28%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Laboratory research	13	33%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Phelan-McDermid Syndrome FoundationPrimary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:662172

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Phelan-McDermid Syndrome Foundation and other patient organizations for support?

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Phelan-McDermid syndrome due to SHANK3 mutation

Overview

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications