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hereditary spastic paraplegia 14 (SPG14) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 14

MONDO:0011522

Also known as:SPG14autosomal recessive spastic paraplegia 14autosomal recessive spastic paraplegia type 14

Overview

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.

GeneticsAutosomal recessive

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: Mild intellectual disability, Pes cavus, Babinski sign, and Lower limb muscle weakness and 5 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Mild intellectual disability, Babinski sign, Spastic gait
Arms and legs

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 14 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 14.

46 publications have been identified in PubMed for hereditary spastic paraplegia 14. Research spans Epidemiology / Natural History (26%), Basic Science / Preclinical (24%), and Case Report / Case Series (20%).

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605229

Orphanet

European rare disease database

Orphanet:100995

GARD

Genetic and Rare Diseases Info Center

GARD:9589

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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hereditary spastic paraplegia 14

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 14

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

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