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spastic paraplegia 88, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 88, autosomal dominant

MONDO:0859309

Overview

GeneticsAutosomal dominant · KPNA3 (chr 13)

OnsetINFANTILE

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: Muscle stiffness, Delayed ability to walk, Babinski sign, and Lower limb hyperreflexia and others; and common findings: Delayed speech and language development, Sensory ataxia, Thin corpus callosum, and Ankle clonus and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Delayed speech and language development, Hypoplasia of the brainstem, 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.

KPNA3 encodes karyopherin subunit alpha 3 (521 aa). Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Highest expression in Muscle Skeletal (81.0 TPM) and Cells Cultured fibroblasts (66.7 TPM).

Spastic paraplegia 88, autosomal dominant is associated with mutations in the KPNA3 gene on chromosome 13.

KPNA3 is classified as a druggable target (Nuclear Hormone Receptor category) with score 0.0.

Diagnosis

Genetic testing for KPNA3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 8 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620106

Questions for Your Care Team

→Should I pursue genetic testing for KPNA3, 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 88, 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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