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hereditary spastic paraplegia 62 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 62

MONDO:0014302

Also known as:ERLIN1 autosomal recessive pure spastic paraplegiaSPG62autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1

Overview

Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.

GeneticsAutosomal recessive · ERLIN1 (chr 10)

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: Spasticity; and very common findings: Babinski sign, Lower limb hyperreflexia, and Lower limb spasticity. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Difficulty walking (gait disturbance), Babinski sign, Lower limb hyperreflexia

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.

ERLIN1 encodes ER lipid raft associated 1 (348 aa). Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Highest expression in Cells Cultured fibroblasts (58.3 TPM) and Vagina (30.3 TPM).

Hereditary spastic paraplegia 62 is caused by mutations in the ERLIN1 gene on chromosome 10.

ERLIN1 is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for ERLIN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 62 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 4 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 62.

15 publications have been identified in PubMed for hereditary spastic paraplegia 62. Research spans Case Report / Case Series (27%), Clinical Trial Publication (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	4	27%

Data assembled from 7 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:615681

Orphanet

European rare disease database

Orphanet:401785

GARD

Genetic and Rare Diseases Info Center

GARD:17657

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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Kisho

hereditary spastic paraplegia 62

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 62

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