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hereditary spastic paraplegia 48 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 48

MONDO:0013342

Also known as:AP5Z1 hereditary spastic paraplegiaSPG48autosomal recessive spastic paraplegia 48

Overview

Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

GeneticsAutosomal recessive · AP5Z1 (chr 7)

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: Thin corpus callosum and Spastic paraplegia; and very common findings: Hypoplasia of the corpus callosum and Progressive spastic paraplegia. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19	Mild intellectual disability, Spastic gait, Periventricular white matter hyperintensities

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.

AP5Z1 encodes adaptor related protein complex 5 subunit zeta 1 (807 aa). As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. Highest expression in Spleen (72.2 TPM) and Skin Sun Exposed Lower leg (67.1 TPM).

Hereditary spastic paraplegia 48 is associated with mutations in the AP5Z1 gene on chromosome 7.

AP5Z1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for AP5Z1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 48 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 19 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 48.

17 publications have been identified in PubMed for hereditary spastic paraplegia 48. Research spans Epidemiology / Natural History (31%), Basic Science / Preclinical (25%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Disease patterns and progression	5	31%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 12:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613647

Orphanet

European rare disease database

Orphanet:306511

GARD

Genetic and Rare Diseases Info Center

GARD:17378

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 48

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 48

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