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autosomal recessive early-onset Parkinson disease 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive early-onset Parkinson disease 7

MONDO:0011658

Also known as:PARK7 Parkinson diseaseParkinson disease caused by mutation in PARK7autosomal recessive early-onset Parkinson disease type 7

Overview

Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.

GeneticsAutosomal recessive · PARK7 (chr 1)

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), Anxiety, and Parkinsonism with favorable response to dopaminergic medication; and common findings: Leg dystonia, Postural tremor, Dyskinesia, and Brisk reflexes. 11 total HPO annotations.

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

Genetic Landscape

PARK7 function has not been fully characterized.

Autosomal recessive early-onset Parkinson disease 7 is associated with mutations in the PARK7 gene on chromosome 1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for PARK7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive early-onset Parkinson disease 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 4 common features.

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 autosomal recessive early-onset Parkinson disease 7.

107 publications have been identified in PubMed for autosomal recessive early-onset Parkinson disease 7. Research spans Basic Science / Preclinical (66%), Review / Meta-Analysis (9%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Laboratory research	71	66%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606324

GARD

Genetic and Rare Diseases Info Center

GARD:18606

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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autosomal recessive early-onset Parkinson disease 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal recessive early-onset Parkinson disease 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications