Parkinson disease 18, autosomal dominant, susceptibility to
Findings
No curated finding names Parkinson disease 18, autosomal dominant, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013653), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Insidious onset · Middle age onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BradykinesiaHPOHP:0002067
- Lewy bodiesHPOHP:0100315
- ParkinsonismHPOHP:0001300
- Resting tremorHPOHP:0002322
- RigidityHPOHP:0002063
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EIF4G1HGNC:3296
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Disputed Evidence · Ambry Genetics · Unknown · 2019
Where it sits
- A kind of
Other names
3 names
Resolves to: Parkinson disease 18, autosomal dominant, susceptibility to
- Also called
- EIF4G1 hereditary late onset Parkinson diseasehereditary late onset Parkinson disease caused by mutation in EIF4G1Parkinson disease 18