Huntington disease
Findings
No curated finding names Huntington disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Definition from the Mondo Disease Ontology (MONDO:0007739), read 2026-09-29. CC BY 4.0.
Features
53 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)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- Abnormal libidoHPOHP:0031845
- Frequent (30% to 79% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
- Abnormality of the sense of smellHPOHP:0004408
- Frequent (30% to 79% of cases)
- Abnormally slow thought processHPOHP:0031843
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- AgitationHPOHP:0000713
- Frequent (30% to 79% of cases)
- AngerHPOHP:0031473
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- Frequent (30% to 79% of cases)
Show the remaining 41
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Compulsive behaviorsHPOHP:0000722
- Frequent (30% to 79% of cases)
- DelusionHPOHP:0000746
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DisinhibitionHPOHP:0000734
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
- HTTHGNC:4851
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC2A3HGNC:11007
- Supportive · Orphanet · Autosomal dominant · 2025
Where it sits
- Narrower terms (2)
Other names
4 names
Resolves to: Huntington disease
- Also called
- HDHuntington choreaHuntington's choreaHuntington's Disease