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hereditary spastic paraplegia 45 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 45

MONDO:0013165

Also known as:NT5C2 autosomal recessive complex spastic paraplegiaSPG45SPG65

Overview

Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.

GeneticsAutosomal recessive · NT5C2 (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: Spastic gait, Lower limb spasticity, Motor delay, and Thin corpus callosum and others; and very common findings: Skeletal muscle atrophy. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Spastic gait, Lower limb spasticity, Intellectual disability

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.

NT5C2 encodes 5'-nucleotidase, cytosolic II (561 aa). Broad specificity cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates. Highest expression in Thyroid (68.9 TPM) and Esophagus Mucosa (56.0 TPM).

Hereditary spastic paraplegia 45 is associated with mutations in the NT5C2 gene on chromosome 10.

The NT5C2 protein participates in (d)GMP or (d)IMP + H2O = (2'-deoxy)guanosine or (2'-deoxy)inosine + orthophosphate (NT5C2) and carbovir + IMP = carbovir monophosphate + inosine pathways.

NT5C2 is classified as a druggable target (Clinically Actionable, Drug Resistance, and Enzyme categories) with score 1.5.

Diagnosis

Genetic testing for NT5C2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 45 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 14 always present features, 1 very common feature, 3 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 45.

25 publications have been identified in PubMed for hereditary spastic paraplegia 45. Research spans Epidemiology / Natural History (28%), Case Report / Case Series (24%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	7	28%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613162

Orphanet

European rare disease database

Orphanet:320396

GARD

Genetic and Rare Diseases Info Center

GARD:17477

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 45

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 45

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