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parkinsonism with polyneuropathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

parkinsonism with polyneuropathy

MONDO:0036193

Overview

GeneticsAutosomal dominant · UQCRC1 (chr 3)

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: Slowness of movement (bradykinesia), Muscle stiffness (rigidity), Decreased compound muscle action potential amplitude, and Anxiety and others; and very common findings: Decreased motor nerve conduction velocity and Polyneuropathy. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Resting tremor, Slowness of movement (bradykinesia), Polyneuropathy

Genetic Landscape

UQCRC1 function has not been fully characterized.

Parkinsonism with polyneuropathy is associated with mutations in the UQCRC1 gene on chromosome 3.

Diagnosis

Genetic testing for UQCRC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for parkinsonism with polyneuropathy has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 2 very common features, 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 parkinsonism with polyneuropathy.

60 publications have been identified in PubMed for parkinsonism with polyneuropathy. Research spans Case Report / Case Series (27%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	16	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619279

Orphanet

European rare disease database

Orphanet:611237

GARD

Genetic and Rare Diseases Info Center

GARD:18028

Questions for Your Care Team

→Should I pursue genetic testing for UQCRC1, 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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Kisho

parkinsonism with polyneuropathy

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

parkinsonism with polyneuropathy

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