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spastic paraplegia 18a, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 18a, autosomal dominant

MONDO:0957788

Overview

GeneticsAutosomal dominant · ERLIN2 (chr 8)

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 always present findings: Difficulty walking (gait disturbance), Lower limb spasticity, and Lower limb muscle weakness; and very common findings: Ankle clonus. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Paresthesia, Difficulty walking (gait disturbance), Babinski sign

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.

ERLIN2 encodes ER lipid raft associated 2 (339 aa). Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1. Highest expression in Cells Cultured fibroblasts (29.8 TPM) and Thyroid (22.2 TPM).

Spastic paraplegia 18a, autosomal dominant is associated with mutations in the ERLIN2 gene on chromosome 8.

The ERLIN2 protein participates in Signaling by plasma membrane FGFR1 fusions pathway.

ERLIN2 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for ERLIN2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 2 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620512

Questions for Your Care Team

→Should I pursue genetic testing for ERLIN2, and what would the results mean for my family?
→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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spastic paraplegia 18a, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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