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-nephritis-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia-nephritis-deafness syndrome

MONDO:0008440

Also known as:Fitzsimmons-Walson-Mellor syndromespastic paraplegia - nephritis - deafnessspastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy

Overview

This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.

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 very common findings: Protein in the urine (proteinuria), Kidney disease (nephropathy), Inner ear hearing loss (sensorineural hearing impairment), and Intellectual disability and others; and common findings: Hypertension. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Intellectual disability, Spasticity, Difficulty walking (gait disturbance)

Prognosis

Phenotype severity distribution: 9 very common features, 1 common feature.

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 spastic paraplegia-nephritis-deafness syndrome.

302 publications have been identified in PubMed for spastic paraplegia-nephritis-deafness syndrome. Kisho has analyzed 33 by research type. Research spans Review / Meta-Analysis (48%), Basic Science / Preclinical (27%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Research summaries	16	48%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182690

Orphanet

European rare disease database

Orphanet:2820

GARD

Genetic and Rare Diseases Info Center

GARD:2342

Questions for Your Care Team

→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

Kisho

spastic paraplegia-nephritis-deafness syndrome

Overview

Clinical Presentation

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

spastic paraplegia-nephritis-deafness syndrome

Overview

Clinical Presentation

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