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hereditary spastic paraplegia 53 (SPG53) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 53

MONDO:0013962

Also known as:SPG53VPS37A autosomal recessive complex spastic paraplegiaautosomal recessive complex spastic paraplegia caused by mutation in VPS37A

Overview

A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

GeneticsAutosomal recessive · VPS37A (chr 8)

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: Joint hypermobility, Excessive outward curvature of the upper spine (kyphosis), Lower limb hypertonia, and Overactive reflexes (hyperreflexia); and common findings: Clonus, Delayed speech and language development, Upper limb hypertonia, and Hypertrichosis and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Clonus, Delayed speech and language development, Difficulty walking (gait disturbance)

Genetic Landscape

VPS37A function has not been fully characterized.

Hereditary spastic paraplegia 53 is associated with mutations in the VPS37A gene on chromosome 8.

Diagnosis

Genetic testing for VPS37A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 53 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 53.

18 publications have been identified in PubMed for hereditary spastic paraplegia 53. Research spans Review / Meta-Analysis (35%), Case Report / Case Series (35%), and Diagnostic / Biomarker (12%).

Research Type	Count	% of Total
Research summaries	6	35%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614898

Orphanet

European rare disease database

Orphanet:319199

GARD

Genetic and Rare Diseases Info Center

GARD:17445

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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Kisho

hereditary spastic paraplegia 53

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

hereditary spastic paraplegia 53

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

Recent Publications