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dystonia 33 (DYT33) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 33

MONDO:0030513

Also known as:DYT33

Overview

GeneticsAutosomal dominant · EIF2AK2 (chr 2)

OnsetNEONATAL

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: Dystonia; and common findings: Limb dystonia. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Dystonia, Axial dystonia, Babinski sign
Muscles

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.

EIF2AK2 encodes eukaryotic translation initiation factor 2 alpha kinase 2 (551 aa). IFN-induced dsRNA-dependent serine/threonine-protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) and plays a key role in the innate immune response to viral infection. Highest expression in Cells EBV-transformed lymphocytes (62.0 TPM) and Cells Cultured fibroblasts (24.7 TPM).

Dystonia 33 is associated with mutations in the EIF2AK2 gene on chromosome 2.

EIF2AK2 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 13.1.

Diagnosis

Genetic testing for EIF2AK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for dystonia 33 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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 33.

96 publications have been identified in PubMed for dystonia 33. Research spans Epidemiology / Natural History (34%), Clinical Trial Publication (18%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	33	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619687

Questions for Your Care Team

→Should I pursue genetic testing for EIF2AK2, 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 33

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

dystonia 33

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications