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dystonia 31 (DYT31) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 31

MONDO:0030455

Also known as:DYT31

Overview

GeneticsAutosomal recessive · AOPEP (chr 9)

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: Writer's cramp and Arm dystonia; and very common findings: Leg dystonia. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Difficulty swallowing (dysphagia), Parkinsonism, Difficulty walking (gait disturbance)

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.

AOPEP encodes aminopeptidase O (putative) (819 aa). Aminopeptidase which catalyzes the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates Highest expression in Artery Aorta (42.2 TPM) and Uterus (34.4 TPM).

Dystonia 31 is associated with mutations in the AOPEP gene on chromosome 9.

The AOPEP protein participates in AOPEP:Zn2+ hydrolyses AGT(35-41) to AGT(36-41) and RETRACTED: AOPEP:Zn2+ hydrolyses AGT(35-41) to AGT(36-41) pathways.

AOPEP is classified as a druggable target (Druggable Genome and Protease categories) with score 2.6.

Diagnosis

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

Biomarker and diagnostic research for dystonia 31 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 5 common features.

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 31.

115 publications have been identified in PubMed for dystonia 31. Research spans Epidemiology / Natural History (28%), Review / Meta-Analysis (17%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	32	28%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619565

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 31

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 31

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