Huntington disease-like 1
Findings
No curated finding names Huntington disease-like 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.
Definition from the Mondo Disease Ontology (MONDO:0011299), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
45 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.
- ChoreaHPOHP:0002072
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- DelusionHPOHP:0000746
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DysarthriaHPO
Show the remaining 33
- Abnormal head movementsHPOHP:0002457
- Occasional (5% to 29% of cases)
- Abnormal posturingHPOHP:0002533
- Occasional (5% to 29% of cases)
- Abnormal saccadic eye movementsHPOHP:0000570
- Occasional (5% to 29% of cases)
- Abnormal shoulder morphologyHPOHP:0003043
- Occasional (5% to 29% of cases)
- Abnormality of eye movementHPOHP:0000496
- Occasional (5% to 29% of cases)
- Abnormality of mental functionHPOHP:0011446
- Occasional (5% to 29% of cases)
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.
- HGNC:9449HGNC:9449
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: Huntington disease-like 1
- Also called
- early-onset prion disease with prominent psychiatric featuresHDL1HLN1Huntington disease-like type 1Huntington-like neurodegenerative disorder 1neurodegenerative disease with chorea caused by mutation in PRNPPRNP neurodegenerative disease with chorea