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hereditary spastic paraplegia 16 (SPG16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 16

MONDO:0010287

Also known as:SPG16X-linked spastic paraplegia 16X-linked spastic paraplegia type 16

Overview

A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.

GeneticsX-linked

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: Tetraplegia. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Babinski sign, Shuffling gait, Lower limb spasticity
Arms and legs

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 16.

40 publications have been identified in PubMed for hereditary spastic paraplegia 16. Research spans Basic Science / Preclinical (28%), Case Report / Case Series (25%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	11	28%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300266

Orphanet

European rare disease database

Orphanet:100997

GARD

Genetic and Rare Diseases Info Center

GARD:9585

Questions for Your Care Team

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hereditary spastic paraplegia 16

Overview

Clinical Presentation

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 16

Overview

Clinical Presentation

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