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dystonia 24 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 24

MONDO:0014019

Also known as:ANO3 dystonic disorderDYT-ANO3DYT24

Overview

Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.

GeneticsAutosomal dominant · ANO3 (chr 11)

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: Limb tremor. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Arm dystonia, Oromandibular dystonia, Head tremor
Arms and legs

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.

ANO3 encodes anoctamin 3 (981 aa). Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Highest expression in Brain Caudate basal ganglia (55.0 TPM) and Brain Putamen basal ganglia (46.5 TPM).

Dystonia 24 is associated with mutations in the ANO3 gene on chromosome 11.

ANO3 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for ANO3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for dystonia 24 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 1 common feature.

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 24.

39 publications have been identified in PubMed for dystonia 24. Research spans Review / Meta-Analysis (18%), Case Report / Case Series (18%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Research summaries	7	18%

Data assembled from 6 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:615034

Orphanet

European rare disease database

Orphanet:420485

GARD

Genetic and Rare Diseases Info Center

GARD:17693

Questions for Your Care Team

→Should I pursue genetic testing for ANO3, 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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dystonia 24

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

Explore clinical features

Recent Publications

dystonia 24

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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