raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:399

Huntington disease

Synonyms: Huntington chorea

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Childhood, Elderly
Status
active

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHuntington diseaseHuntington chorea
frMaladie de HuntingtonChorée de Huntington
deHuntington-KrankheitChorea Huntington
esEnfermedad de HuntingtonCorea de Huntington
itMalattia di Huntington
nlZiekte van HuntingtonChorea van Huntington
ptDoença de HuntingtonCoreia de Huntington
plChoroba Huntingtonapląsawica Huntingtona
csHuntingtonova chorobaHuntingtonova chorea
ukХвороба ХантінгтонаХорея Гентингтона
zh亨廷顿舞蹈病亨廷顿舞蹈症
trHuntington hastalığıHuntington koresi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM143100Evalidated
ICD-10G10Especificvalidated
ICD-118A01.10Especificvalidated
MONDO0007739Evalidated
MeSHD006816Evalidated
UMLSC0020179Evalidated
GARD6677Evalidated
MedDRA10070668Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (5):

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
HTTDisease-causing germline mutation(s) (gain of function) inAssessedHGNC:4851ENSG000001973866130044p16.3huntingtin20301482[PMID]_21566141[PMID]
SLC2A3Modifying germline mutation inAssessedHGNC:11007ENSG0000005980413817012p13.31solute carrier family 2 member 324452335[PMID]
5

Prevalence and incidence

32 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 100 0004 / 100 000GreeceValue and classValidated21166788[PMID]
Annual incidence1-9 / 1 000 0000.38 / 100 000WorldwideValue and classValidated22692795[PMID]
Point prevalence1-9 / 100 0002.7 / 100 000WorldwideValue and classValidated22692795[PMID]
Point prevalence1-5 / 10 00012 / 100 000EuropeValue and classValidatedEuropean Medicines Agency 2019[OTHER]
Point prevalence1-5 / 10 00010.6 / 100 000IrelandValue and classValidated20880124[PMID]
Annual incidence1-9 / 1 000 0000.61 / 100 000United KingdomValue and classNot yet validated22133668[PMID]_ORPHANET
Point prevalence1-9 / 100 0005.4 / 100 000United KingdomValue and classNot yet validated22133668[PMID]_21088431[PMID]_7994530[PMID]_9231935[PMID]
Annual incidence1-9 / 1 000 0000.11 / 100 000ItalyValue and classValidated2151397[PMID]
Point prevalence1-9 / 100 0006.35 / 100 000ItalyValue and classNot yet validated2151397[PMID]_25689972[PMID]
Annual incidence1-9 / 1 000 0000.69 / 100 000CanadaValue and classValidated11595021[PMID]
Annual incidence1-9 / 1 000 0000.3 / 100 000United StatesValue and classValidated8018043[PMID]
Point prevalence1-9 / 100 0001.9 / 100 000United StatesValue and classValidated8018043[PMID]
Point prevalence1-9 / 1 000 0000.65 / 100 000JapanValue and classValidated8700304[PMID]
Annual incidence1-9 / 1 000 0000.65 / 100 000AustraliaValue and classValidated11008591[PMID]
Point prevalence1-9 / 100 0006.3 / 100 000AustraliaValue and classValidated11008591[PMID]
Annual incidence<1 / 1 000 0000.046 / 100 000ChinaValue and classValidated7586664[PMID]
Point prevalence1-9 / 1 000 0000.37 / 100 000ChinaValue and classValidated7586664[PMID]
Point prevalence1-9 / 100 0005.2 / 100 000SloveniaValue and classValidated18976322[PMID]
Annual incidence<1 / 1 000 0000.08 / 100 000Taiwan, Province of ChinaValue and classValidated7586664[PMID]
Point prevalence1-9 / 1 000 0000.42 / 100 000Taiwan, Province of ChinaValue and classValidated7586664[PMID]
Annual incidence1-9 / 1 000 0000.14 / 100 000IcelandValue and classValidated22722209[PMID]
Point prevalence1-9 / 100 0001 / 100 000IcelandValue and classValidated22722209[PMID]
Point prevalence1-9 / 100 0006.7 / 100 000NorwayValue and classValidated2938203[PMID]
Point prevalence1-9 / 100 0004.7 / 100 000SwedenValue and classValidated22722209[PMID]
Annual incidence1-9 / 1 000 0000.33 / 100 000GreeceValue and classValidated21166788[PMID]
Point prevalence1-9 / 1 000 0000.5 / 100 000FinlandValue and classValidated2889026[PMID]
Point prevalence1-5 / 10 00021 / 100 000EgyptValue and classValidated7969703[PMID]
Point prevalence1-9 / 100 0004.64 / 100 000CyprusValue and classValidated29105741[PMID]
Annual incidence1-9 / 1 000 0000.12 / 100 000CyprusValue and classValidated29105741[PMID]
Point prevalence1-9 / 100 0004.94 / 100 000SpainValue and classValidated33568143[PMID]
Annual incidence1-9 / 1 000 0000.35 / 100 000SpainValue and classValidated33568143[PMID]
Point prevalence1-9 / 100 0005.8 / 100 000DenmarkValue and classValidated28155235[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

53 annotations · validated 2020-03-13
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0002072Chorea
HP:0001347Hyperreflexia
HP:0001268Mental deterioration
Frequent (79-30%)
HP:0031845Abnormal libido
HP:0000496Abnormality of eye movement
HP:0004408Abnormality of the sense of smell
HP:0000718Aggressive behavior
HP:0000713Agitation
HP:0000739Anxiety
HP:0000741Apathy
HP:0002067Bradykinesia
HP:0031843Bradyphrenia
HP:0002312Clumsiness
HP:0000722Compulsive behaviors
HP:0000746Delusion
HP:0000716Depression
HP:0000734Disinhibition
HP:0001332Dystonia
HP:0001288Gait disturbance
HP:0001288Gait disturbance
HP:0002141Gait imbalance
HP:0003324Generalized muscle weakness
HP:0000738Hallucinations
HP:0031473Hostility
HP:0002375Hypokinesia
HP:0004305Involuntary movements
HP:0000737Irritability
HP:0002354Memory impairment
HP:0001336Myoclonus
HP:0007010Poor fine motor coordination
HP:0001250Seizure
HP:0009088Speech articulation difficulties
HP:0025401Staring gaze
HP:0001824Weight loss
Occasional (29-5%)
HP:0002500Abnormal cerebral white matter morphology
HP:0003107Abnormality of cholesterol metabolism
HP:0030955Alcoholism
HP:0003487Babinski sign
HP:0002340Caudate atrophy
HP:0002059Cerebral atrophy
HP:0030842Choking episodes
HP:0002169Clonus
HP:0045082Decreased body mass index
HP:0040140Degeneration of the striatum
HP:0001262Excessive daytime somnolence
HP:0010794Impaired visuospatial constructive cognition
HP:0002540Inability to walk
HP:0100785Insomnia
HP:0002300Mutism
HP:0200136Oral-pharyngeal dysphagia
HP:0002591Polyphagia
HP:0002063Rigidity
HP:0031589Suicidal ideation

Run the differential on the 3 obligate / very frequent terms

Annotation source: 20301482[PMID]_28221321[PMID]

7

Sources for this card