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hereditary spastic paraplegia 33 (SPG33) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 33

MONDO:0012448

Also known as:SPG33ZFYVE27 hereditary spastic paraplegiaautosomal dominant spastic paraplegia 33

Overview

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.

GeneticsAutosomal dominant

OnsetADULT

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: Talipes equinovarus, Babinski sign, Lower limb muscle weakness, and Spastic gait and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Babinski sign, Spastic gait, Lower limb spasticity
Arms and legs

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 33 has been reported in the published literature.

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 hereditary spastic paraplegia 33.

15 publications have been identified in PubMed for hereditary spastic paraplegia 33. Research spans Epidemiology / Natural History (40%), Diagnostic / Biomarker (27%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Disease patterns and progression	6	40%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 10:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610244

Questions for Your Care Team

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hereditary spastic paraplegia 33

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

hereditary spastic paraplegia 33

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications