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dystonia 37, early-onset, with striatal lesions - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 37, early-onset, with striatal lesions

MONDO:0957385

Overview

GeneticsAutosomal recessive · NUP54 (chr 4)

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: Difficulty swallowing (dysphagia), Dysarthria, Ataxia, and Chorea and others; and common findings: Microcephaly, Choreoathetosis, Leg dystonia, and Low muscle tone (hypotonia) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Difficulty swallowing (dysphagia), Leg dystonia, Dysarthria

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.

NUP54 encodes nucleoporin 54 (507 aa). Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane Highest expression in Cells Cultured fibroblasts (38.1 TPM) and Uterus (37.6 TPM).

Dystonia 37, early-onset, with striatal lesions is associated with mutations in the NUP54 gene on chromosome 4.

NUP54 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NUP54 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 8 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620427

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 37, early-onset, with striatal lesions

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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