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hereditary spastic paraplegia 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 13

MONDO:0011532

Also known as:HSPD1 hereditary spastic paraplegiaSPG13autosomal dominant spastic paraplegia 13

Overview

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.

GeneticsAutosomal dominant · HSPD1 (chr 2)

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: Impaired vibration sensation in the lower limbs, Urinary urgency, Babinski sign, and Lower limb muscle weakness and 6 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Babinski sign, Spastic gait, Lower limb spasticity

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.

HSPD1 encodes heat shock protein family D (Hsp60) member 1 (573 aa). Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. Highest expression in Cells EBV-transformed lymphocytes (621.5 TPM) and Adrenal Gland (611.7 TPM).

Hereditary spastic paraplegia 13 is associated with mutations in the HSPD1 gene on chromosome 2.

The HSPD1 protein participates in ATF5 and HSF1 trimer activate expression of HSPD1, ATF5 and HSF1 trimer bind the bidirectional promoter of the HSPD1 gene and HSPE1 gene, and TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation pathways.

HSPD1 is classified as a druggable target (Cell Surface, Druggable Genome, and Enzyme categories) with score 17.4.

Diagnosis

Genetic testing for HSPD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 13 has been reported in the published literature.

Prognosis

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 13.

47 publications have been identified in PubMed for hereditary spastic paraplegia 13. Research spans Epidemiology / Natural History (26%), Case Report / Case Series (21%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Disease patterns and progression	12	26%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605280

Orphanet

European rare disease database

Orphanet:100994

GARD

Genetic and Rare Diseases Info Center

GARD:9616

Questions for Your Care Team

→Should I pursue genetic testing for HSPD1, and what would the results mean for my family?
→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 13

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 13

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