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dystonia 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 27

MONDO:0014627

Also known as:COL6A3 dystonic disorderdystonia type 27dystonic disorder caused by mutation in COL6A3

Overview

Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.

GeneticsAutosomal recessive · COL6A3 (chr 2)

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: Torticollis; and very common findings: Oromandibular dystonia and Laryngeal dystonia. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Action tremor, Limb dystonia, Postural tremor

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.

COL6A3 encodes collagen type VI alpha 3 chain (3,177 aa). Collagen VI acts as a cell-binding protein Highest expression in Cells Cultured fibroblasts (1,201 TPM) and Cervix Ectocervix (276.6 TPM).

Dystonia 27 has limited evidence linking it to mutations in the COL6A3 gene on chromosome 2.

COL6A3 is classified as a druggable target (Druggable Genome and Protease Inhibitor categories) with score 13.1.

Diagnosis

Genetic testing for COL6A3 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for dystonia 27 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 7 common 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 dystonia 27.

103 publications have been identified in PubMed for dystonia 27. Research spans Review / Meta-Analysis (20%), Clinical Trial Publication (19%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Research summaries	21	20%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616411

Orphanet

European rare disease database

Orphanet:464440

GARD

Genetic and Rare Diseases Info Center

GARD:17819

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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dystonia 27

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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dystonia 27

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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