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hereditary spastic paraplegia 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 18

MONDO:0012639

Also known as:ERLIN2 autosomal recessive complex spastic paraplegiaSPG18autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2

Overview

A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

OnsetLATE

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: Intellectual disability, Global developmental delay, Overactive reflexes (hyperreflexia), and Flexion contracture and others; and common findings: Wide mouth, Macroglossia, Spasticity, and Absent speech and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Intellectual disability, Global developmental delay, Overactive reflexes (hyperreflexia)

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 very common features, 6 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 18.

48 publications have been identified in PubMed for hereditary spastic paraplegia 18. Research spans Epidemiology / Natural History (23%), Case Report / Case Series (21%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	11	23%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:209951

GARD

Genetic and Rare Diseases Info Center

GARD:4922

Questions for Your Care Team

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hereditary spastic paraplegia 18

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia.

Unraveling SPG46: Clinical, Genetic, and Neuroimaging Features.

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.

hereditary spastic paraplegia 18

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia.

Unraveling SPG46: Clinical, Genetic, and Neuroimaging Features.

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.