Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spastic paraplegia 72b, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 72b, autosomal recessive

MONDO:0957958

Overview

GeneticsAutosomal recessive · REEP2 (chr 5)

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: Babinski sign, Lower limb hyperreflexia, Spastic gait, and Difficulty running and others; and common findings: Difficulty walking (gait disturbance). 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Babinski sign, Difficulty walking (gait disturbance), Lower limb hyperreflexia

Genetic Landscape

REEP2 function has not been fully characterized.

Spastic paraplegia 72b, autosomal recessive is associated with mutations in the REEP2 gene on chromosome 5.

Diagnosis

Genetic testing for REEP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620606

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?

← Back to All Diseases

spastic paraplegia 72b, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features