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hereditary spastic paraplegia 27 (SPG27) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 27

MONDO:0012181

Also known as:SPG27autosomal recessive spastic paraplegia 27autosomal recessive spastic paraplegia type 27

Overview

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.

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 very common findings: Babinski sign, Lower limb hyperreflexia, Impaired vibration sensation at ankles, and Spastic/hyperactive bladder and others; and sometimes findings: Dysarthria, Dysdiadochokinesis, and Abnormality of somatosensory evoked potentials. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Babinski sign, Lower limb hyperreflexia, Dysarthria

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 27 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 very 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 27.

19 publications have been identified in PubMed for hereditary spastic paraplegia 27. Research spans Case Report / Case Series (26%), Epidemiology / Natural History (26%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Patient case studies	5	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609041

Orphanet

European rare disease database

Orphanet:101007

GARD

Genetic and Rare Diseases Info Center

GARD:16940

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 27

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 27

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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