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spastic paraplegia 83, autosomal recessive (SPG83) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 83, autosomal recessive

MONDO:0033614

Also known as:SPG83autosomal recessive spastic paraplegia type 83

Overview

GeneticsAutosomal recessive · HPDL (chr 1)

OnsetJUVENILE

ResearchLimited published research (7 articles)

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: Lower limb hyperreflexia, Unsteady gait, and Spastic paraplegia; and common findings: Babinski sign, Gait ataxia, and Muscle spasm. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Paresthesia, Difficulty swallowing (dysphagia), Babinski sign

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.

HPDL encodes 4-hydroxyphenylpyruvate dioxygenase like (371 aa). Iron-dependent dioxygenase that catalyzes the conversion of 4-hydroxyphenylpyruvate (4-HPPA) to 4-hydroxymandelate (4-HMA) in the mitochondria, one of the steps in the biosynthesis of coenzyme Q10 fro... Highest expression in Cells EBV-transformed lymphocytes (12.6 TPM) and Brain Cerebellar Hemisphere (8.7 TPM).

Spastic paraplegia 83, autosomal recessive is associated with mutations in the HPDL gene on chromosome 1.

The HPDL protein participates in HPDL dioxygenates HPPA and Ubiquinol biosynthesis pathways.

HPDL is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for spastic paraplegia 83, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 3 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 spastic paraplegia 83, autosomal recessive.

7 publications have been identified in PubMed for spastic paraplegia 83, autosomal recessive. Research spans Review / Meta-Analysis (29%), Diagnostic / Biomarker (14%), and Case Report / Case Series (14%).

Recent Publications

Safka Brozkova D (2026). [PMID: 41749354](https://pubmed.ncbi.nlm.nih.gov/41749354/). *Hum Genomics*. [Diagnostic / Biomarker]
Fiscal-Carvajal AB (2026). [PMID: 42175574](https://pubmed.ncbi.nlm.nih.gov/42175574/). *Mov Disord Clin Pract*. [Case Report / Case Series]
Vaghefi F (2026). [PMID: 42116150](https://pubmed.ncbi.nlm.nih.gov/42116150/). *BMC Med Genomics*. [Review / Meta-Analysis]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Movement disorders : official journal of the Movement Disorder Society*. [Clinical Trial Publication]
Alecu JE (2025). [PMID: 39731469](https://pubmed.ncbi.nlm.nih.gov/39731469/). *Genet Med*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619027

Orphanet

European rare disease database

Orphanet:631076

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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spastic paraplegia 83, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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