HD
MCID: HNT016
MIFTS: 72

Huntington Disease (HD)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Huntington Disease

MalaCards integrated aliases for Huntington Disease:

Name: Huntington Disease 57 11 24 19 42 58 73 28 12 53 5 43 36 38 71 31 33
Huntington's Disease 11 19 42 52 75 41 14
Huntington Chorea 57 24 42 58 33
Huntington's Chorea 11 19 42 14
Hd 57 11 19 73
Huntington Chronic Progressive Hereditary Chorea 42
Chronic Progressive Hereditary Chorea 33
Progressive Hereditary Chorea 33
Juvenile Huntington Disease 71
Chronic Progressive Chorea 33
Hc - [huntington Chorea] 33
Hereditary Chorea 33

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Greece, Worldwide, United States, Australia, Slovenia, Iceland, Norway, Sweden, Cyprus, Denmark, Spain) 1-9/1000000 (Worldwide, Italy, Canada, United States, Japan, Australia, China, Taiwan, Province of China, Iceland, Greece, Finland, Cyprus, Spain) 1-5/10000 (Europe, Ireland, Egypt) <1/1000000 (China, Taiwan, Province of China) 58

Age Of Onset:

Adolescent,Adult,Childhood,Elderly 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset first to seventh decade with 30 to 40 year mode
prevalence much higher in whites than blacks
juvenile rigid early-onset form more often paternally inherited
normal range of expanded repeats 9-29, hd range 36-121
complete penetrance


GeneReviews:

24
Penetrance Alleles with 36 to 39 cag repeats are considered hd-causing alleles, but exhibit incomplete penetrance. elderly asymptomatic individuals with cag repeats in this range are common [kay et al 2016]....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Huntington Disease

MedlinePlus Genetics: 42 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.

MalaCards based summary: Huntington Disease, also known as huntington's disease, is related to huntington disease-like 1 and choreatic disease, and has symptoms including tremor, myoclonus and back pain. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways is miRNAs involved in DNA damage response. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include Brain, eye and globus pallidus, and related phenotypes are chorea and mental deterioration

NINDS: 52 Huntington's disease (HD) is an inherited disorder that causes brain cells, called neurons, to die in various areas of the brain, including those that help to control voluntary (intentional) movement. Symptoms of the disease, which gets progressively worse, include uncontrolled movements (called chorea), abnormal body postures, and changes in behavior, emotion, judgment, and cognition. People with HD also develop impaired coordination, slurred speech, and difficulty feeding and swallowing. HD typically begins between ages 30 and 50. An earlier onset form called juvenile HD occurs under age 20.  Its symptoms differ somewhat from adult onset HD and include rigidity, slowness, difficulty at school, rapid involuntary muscle jerks called myoclonus, and seizures. More than 30,000 Americans have HD. Huntington’s disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more times than is normal. Each child of a parent with HD has a 50-50 chance of inheriting the HD gene. A child who does not inherit the HD gene will not develop the disease and generally cannot pass it to subsequent generations. A person who inherits the HD gene will eventually develop the disease. HD is generally diagnosed based on a genetic test, medical history, brain imaging, and neurological and laboratory tests.

MedlinePlus: 41 Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. Later, HD can take away the ability to walk, talk, and swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions. If one of your parents has Huntington's disease, you have a 50% chance of getting it. A blood test can tell you if have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test. There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease. NIH: National Institute of Neurological Disorders and Stroke

UniProtKB/Swiss-Prot: 73 A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen.

OMIM®: 57 Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models. (143100) (Updated 08-Dec-2022)

Disease Ontology: 11 A neurodegenerative disease that has material basis in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has material basis in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.

GARD: 19 Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. It is caused by changes in the HTT gene and is inherited in an autosomal dominant manner. There is also a less common, early-onset form of HD which begins in childhood or adolescence.

Orphanet: 58 Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

Wikipedia: 75 Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is... more...

GeneReviews: NBK1305

Related Diseases for Huntington Disease

Diseases in the Huntington Disease family:

Huntington Disease-Like 1 Huntington Disease-Like 3
Huntington Disease-Like 2 Juvenile Huntington Disease
Huntington Disease-Like Syndrome Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Diseases related to Huntington Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 664)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 1 33.3 PRNP JPH3
2 choreatic disease 32.4 PRNP MIR22 JPH3 HTT
3 movement disease 31.9 PRNP MIR22 MIR132 HTT
4 autosomal dominant cerebellar ataxia 31.5 PRNP MIR22 MIR132 JPH3 HTT
5 alzheimer disease, familial, 1 31.4 SLC2A3 PRNP MIR330 MIR29A MIR22 MIR132
6 dentatorubral-pallidoluysian atrophy 31.3 PRNP JPH3 HTT
7 toxic encephalopathy 31.2 PRNP MIR29A MIR22 MIR132 HTT
8 frontotemporal dementia 31.2 PRNP NEAT1 MIR22 MIR132 HTT
9 prion disease 31.0 PRNP MIR22 MIR132 HTT
10 dementia, lewy body 31.0 PRNP MIR22 MIR132 HTT
11 cerebellar disease 31.0 PRNP MIR132 JPH3 HTT
12 spinocerebellar ataxia 8 30.9 JPH3 HTT HAR1A
13 central nervous system disease 30.8 MIR330 MIR29C MIR29A MIR22 MIR132 HAR1A
14 visual epilepsy 30.8 NEAT1 BDNF-AS
15 disease of mental health 30.7 MIR29A MIR22 MIR132 BDNF-AS
16 supranuclear palsy, progressive, 1 30.7 PRNP MIR132 HTT
17 multiple system atrophy 1 30.6 PRNP MIR132 HTT
18 nervous system disease 30.4 PRNP MIR330 MIR29C MIR29A MIR22 MIR132
19 neuroacanthocytosis 30.4 JPH3 HTT
20 cerebrovascular disease 30.4 MIR29A MIR22 MIR132 MEG3
21 gerstmann-straussler disease 30.3 PRNP HTT
22 peripheral nervous system disease 30.3 MIR330 MIR29A MIR22 MIR132 HTT
23 gastrointestinal system disease 30.2 MIR330 MIR29C MIR29A MIR22
24 leukemia, acute myeloid 30.0 TUG1 MIR330 MIR29A MIR22 MEG3
25 huntington disease-like 2 11.8
26 huntington disease-like syndrome 11.8
27 juvenile huntington disease 11.7
28 huntington disease-like 3 11.6
29 spinocerebellar ataxia 17 11.6
30 huntington disease-like syndrome due to c9orf72 expansions 11.5
31 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.4
32 mcleod syndrome 11.2
33 choreoacanthocytosis 11.1
34 dystonia 3, torsion, x-linked 11.0
35 swallowing disorders 11.0
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8
37 dystonia 10.6
38 chronic wasting disease 10.5 PRNP HTT
39 nkx2-1-related disorders 10.5
40 parkinsonism 10.5
41 basal ganglia disease 10.4
42 sensory system disease 10.4 MIR29C MIR29A MIR22 MIR132
43 arteries, anomalies of 10.4 MIR29C MIR29A MIR22 MIR132
44 carbohydrate metabolic disorder 10.4 MIR29C MIR29A MIR22 MIR132
45 lymphatic system disease 10.4 MIR29C MIR29A MIR22 MIR132
46 central nervous system cancer 10.4 MIR330 MIR29C MIR22 DGCR5
47 inherited metabolic disorder 10.4 MIR29C MIR29A MIR22 MIR132
48 colonic disease 10.4 MIR330 MIR29C MIR29A MIR22
49 malignant astrocytoma 10.4 MIR330 MIR29C MIR22 MIR132 DGCR5
50 uterine anomalies 10.4 MIR330 MIR29C MIR29A MIR22

Comorbidity relations with Huntington Disease via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Huntington Disease:



Diseases related to Huntington Disease

Symptoms & Phenotypes for Huntington Disease

Human phenotypes related to Huntington Disease:

58 30 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002072
2 mental deterioration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001268
3 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
4 abnormality of eye movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0000496
5 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
6 hallucinations 58 30 Frequent (33%) Frequent (79-30%)
HP:0000738
7 myoclonus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001336
8 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
9 irritability 58 30 Frequent (33%) Frequent (79-30%)
HP:0000737
10 obsessive-compulsive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000722
11 gait imbalance 58 30 Frequent (33%) Frequent (79-30%)
HP:0002141
12 dystonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001332
13 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
14 memory impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002354
15 abnormality of the sense of smell 58 30 Frequent (33%) Frequent (79-30%)
HP:0004408
16 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
17 generalized muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003324
18 aggressive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000718
19 disinhibition 58 30 Frequent (33%) Frequent (79-30%)
HP:0000734
20 apathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000741
21 clumsiness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002312
22 poor fine motor coordination 58 30 Frequent (33%) Frequent (79-30%)
HP:0007010
23 hypokinesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002375
24 agitation 58 30 Frequent (33%) Frequent (79-30%)
HP:0000713
25 bradykinesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002067
26 abnormal libido 58 30 Frequent (33%) Frequent (79-30%)
HP:0031845
27 speech articulation difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0009088
28 delusions 58 30 Frequent (33%) Frequent (79-30%)
HP:0000746
29 staring gaze 58 30 Frequent (33%) Frequent (79-30%)
HP:0025401
30 hostility 58 30 Frequent (33%) Frequent (79-30%)
HP:0031473
31 bradyphrenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0031843
32 clonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002169
33 decreased body mass index 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0045082
34 insomnia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100785
35 babinski sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003487
36 rigidity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002063
37 cerebral atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002059
38 abnormal cerebral white matter morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002500
39 oral-pharyngeal dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200136
40 degeneration of the striatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040140
41 excessive daytime somnolence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001262
42 polyphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002591
43 choking episodes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030842
44 mutism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002300
45 caudate atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002340
46 suicidal ideation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031589
47 inability to walk 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002540
48 impaired visuospatial constructive cognition 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010794
49 alcoholism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030955
50 abnormal circulating cholesterol concentration 30 Occasional (7.5%) HP:0003107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
chorea
dementia
bradykinesia
abnormal eye movement
more
Head And Neck Face:
oral motor dysfunction (juvenile form)

Neurologic Behavioral Psychiatric Manifestations:
depression
personality change

Head And Neck Eyes:
abnormal eye movement

Clinical features from OMIM®:

143100 (Updated 08-Dec-2022)

UMLS symptoms related to Huntington Disease:


tremor; myoclonus; back pain; headache; syncope; personality changes; pain; bradykinesia; chronic pain; sciatica; seizures; vertigo/dizziness; sleeplessness

Drugs & Therapeutics for Huntington Disease

Drugs for Huntington Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
3
Tetrabenazine Approved, Investigational Phase 4 58-46-8 6018
4 Dopamine Agents Phase 4
5 Antiparkinson Agents Phase 4
6 Excitatory Amino Acid Antagonists Phase 4
7 Adrenergic Agents Phase 4
8 Neurotransmitter Agents Phase 4
9
Cysteamine Approved, Investigational Phase 2, Phase 3 60-23-1 6058
10
Olanzapine Approved, Investigational Phase 3 132539-06-1 135398745 4585
11
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
12
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
13
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
14
Minocycline Approved, Investigational Phase 2, Phase 3 10118-90-8, 13614-98-7 54675783 5281021
15
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 3 14838-15-4, 492-39-7 131954576 4786 26934
16
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
17
Dextromethorphan Approved Phase 3 125-71-3 5362449 5360696
18
Quinidine Approved, Investigational Phase 3 56-54-2, 130-95-0, 804-63-7 1065 441074 3034034 8549
19
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
20
Ubidecarenone Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
21
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
22 Tiapride Hydrochloride Phase 3
23 Platelet Aggregation Inhibitors Phase 3
24
Eicosapentaenoic acid ethyl ester Phase 3 3298
25 Omega 3 Fatty Acid Phase 3
26 Neuroprotective Agents Phase 3
27 Anticonvulsants Phase 3
28 Anti-Bacterial Agents Phase 2, Phase 3
29 Anti-Arrhythmia Agents Phase 3
30 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
31 Antitussive Agents Phase 3
32 Adrenergic Antagonists Phase 3
33 Adrenergic alpha-Antagonists Phase 3
34 Antiprotozoal Agents Phase 3
35 Sodium Channel Blockers Phase 3
36
Quinidine gluconate Phase 3
37 Antiparasitic Agents Phase 3
38 Antimalarials Phase 3
39 Cytochrome P-450 Enzyme Inhibitors Phase 3
40 Muscarinic Antagonists Phase 3
41 Cholinergic Antagonists Phase 3
42 Cholinergic Agents Phase 3
43 Diuretics, Potassium Sparing Phase 3
44 Biguanides Phase 3
45 Hypoglycemic Agents Phase 3
46 Ubiquinone Phase 3
47 Trace Elements Phase 3
48 Micronutrients Phase 3
49 Vitamins Phase 3
50
Amantadine Approved Phase 2 768-94-5 2130

Interventional clinical trials:

(show top 50) (show all 221)
# Name Status NCT ID Phase Drugs
1 Effect of Tetrabenazine on Stroop Interference in Huntington Disease Completed NCT01834911 Phase 4 Tetrabenazine withdrawal
2 A Pilot Study of Memantine for Cognitive and Behavioral Dysfunction in Huntington's Disease" Completed NCT00652457 Phase 4 Memantine
3 A Pilot Study Assessing Impulsivity in Patients With Huntington's Disease on Xenazine (Tetrabenazine) Recruiting NCT02509793 Phase 4 Tetrabenazine
4 Multicentric Trial of the Treatment of Huntington's Disease by Cysteamine (RP103) Unknown status NCT02101957 Phase 2, Phase 3 RP103;Placebo
5 Neuroleptic and Huntington Disease. Comparison of : Olanzapine, la Tetrabenazine and Tiapride. A Multicentric, Randomised, Controlled Study. Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
6 A Multi-center, North American, Randomized, Double-blind, Parallel Group Study Comparing Three Doses of ACR16 Versus Placebo for the Symptomatic Treatment of Huntington Disease (HART) Completed NCT00724048 Phase 2, Phase 3 ACR16 10 mg;ACR16 22.5 mg;ACR16 45 mg
7 An Open-Label, Long Term Safety Study of SD-809 ER in Subjects With Chorea Associated With Huntington Disease Completed NCT01897896 Phase 3 SD-809
8 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Chorea Associated With Huntington Disease Completed NCT04102579 Phase 3 Valbenazine;Placebo
9 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Safety and Efficacy Study of Dimebon in Patients With Mile-to-Moderate Huntington Disease Completed NCT00920946 Phase 3 Dimebon
10 A Randomized Double-Blind, Placebo-Controlled Study of SD-809 Extended Release for the Treatment of Chorea Associated With Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
11 A Multicenter, Double Blind, Randomized, Parallel Group, Placebo-Controlled Trial of Ethyl-EPA (Miraxion™) in Subjects With Mild to Moderate Huntington's Disease Completed NCT00146211 Phase 3 Ethyl-EPA (Miraxion™)
12 A Phase III Multicenter, Double-Blind, Parallel-Group, Placebo Controlled Study to Measure the Effect of Riluzole 50 mg b.i.d. Over a Period of Three Years on the Progression of Huntington's Disease Completed NCT00277602 Phase 3 Riluzole
13 A Multi-Center, Double-Blind, Pilot Study of Minocycline in Huntington's Disease Completed NCT00277355 Phase 2, Phase 3 minocycline;Matching placebo
14 A Multicentre, Multinational, Randomized, Double-blind, Parallel-group Study Comparing ACR16 Versus Placebo for the Symptomatic Treatment of Huntington's Disease Completed NCT00665223 Phase 3 ACR16;Placebo
15 A Randomized, Multicenter, Double-Blind, Placebo-Controlled, Phase III Clinical Study to Evaluate the Efficacy and Safety of Intrathecally Administered RO7234292 (RG6042) in Patients With Manifest Huntington's Disease Completed NCT03761849 Phase 3 RO7234292;Placebo
16 A Randomized, Double-Blind, Placebo-Controlled Study of Tetrabenazine for the Treatment of Huntington's Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
17 Impact of Deutetrabenazine on Functional Speech and Gait Dynamics in Huntington Disease Recruiting NCT04713982 Phase 2, Phase 3 Deutetrabenazine
18 Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease Recruiting NCT04400331 Phase 3 Valbenazine
19 Evaluating the Efficacy of Dextromethorphan/Quinidine in Treating Irritability in Huntington's Disease Recruiting NCT03854019 Phase 3 Dextromethorphan/quinidine 20mg/10mg (DM/Q 20mg/10mg);Placebo
20 "Randomized, Double-blind, Placebo-controlled Study to Assess the Effect of Metformin, an Activator of AMPK, on Cognitive Measures of Progression in Huntington's Disease Patients" Recruiting NCT04826692 Phase 3 Metformin;Placebo
21 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel Arm, Multicenter Study Evaluating the Efficacy and Safety of Pridopidine in Patients With Early Stage of Huntington Disease Active, not recruiting NCT04556656 Phase 3 Pridopidine;Placebo
22 An Open-Label Extension Study to Evaluate the Long-Term Safety and Tolerability of Intrathecally Administered RO7234292 (RG6042) in Patients With Huntington's Disease Active, not recruiting NCT03842969 Phase 3 RO7234292 (RG6042)
23 Clinical Extension Study for Assessing the Safety and Efficacy of the Intravenous Administration of Cellavita-HD in Huntington's Disease Patients Who Participated in the ADORE-DH Study. Active, not recruiting NCT04219241 Phase 2, Phase 3
24 HORIZON-Plus: An Open-Label Extension of the HORIZON Protocol (DIM20) Evaluating the Safety of Dimebon (Latrepirdine) in Subjects With Huntington Disease Terminated NCT01085266 Phase 3 Dimebon (latrepirdine)
25 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
26 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3 coenzyme Q10
27 Safety and Efficacy of Bone Marrow Derived MNCs for the Treatment of Huntingtons Chorea. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834053 Phase 1, Phase 2
28 Proof of Concept of an Anaplerotic Study Using Brain Phosphorus Magnetic Resonance Spectroscopy in Huntington Disease Completed NCT01882062 Phase 2 Triheptanoin 1g/kg/day
29 A Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Tolerability, and Efficacy of PBT2 in Patients With Early to Mid-stage Huntington Disease Completed NCT01590888 Phase 2 PBT2;Placebo
30 A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease; a Phase IIb Study Completed NCT01458470 Phase 2 Memantine
31 Creatine Safety and Tolerability in Premanifest HD: PRECREST Completed NCT00592995 Phase 2 Creatine monohydrate;Placebo
32 Multicentric Intracerebral Grafting in Huntington's Disease Completed NCT00190450 Phase 2
33 Dose-Response Evaluation of the Investigational Product Cellavita HD After Intravenous Administration in Patients With Huntington's Disease Completed NCT03252535 Phase 2
34 A Comparative Phase 2 Study Assessing the Efficacy of Triheptanoin, an Anaplerotic Therapy in Huntington's Disease Completed NCT02453061 Phase 2 Triheptanoin oil;Placebo
35 A Randomized, Placebo-Controlled Pilot Study in Huntington's Disease (CIT-HD) Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
36 Atomoxetine for Attention Deficits in Adults With Mild HD: A Randomized, Placebo-Controlled Crossover Study Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
37 Effects of EGCG (Epigallocatechin Gallate) in Huntington's Disease The ETON-Study - A Randomized, Double-blind, Stratified, Placebo-controlled Prospective Investigator Initiated Multicenter Trial - Completed NCT01357681 Phase 2 (2)-epigallocatechin-3-gallate (EGCG);Placebo
38 A Multi-Center, North American, Open-Label Extension Study of Pridopidine (ACR16) in the Symptomatic Treatment of Huntington's Disease (Open-HART). Completed NCT01306929 Phase 2 pridopidine
39 A Phase 2a Open Label Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Intravenous ANX005 in Subjects With, or at Risk for, Manifest Huntington's Disease Completed NCT04514367 Phase 2 ANX005
40 An Open-Label Extension Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of RO7234292 (ISIS 443139) in Huntington's Disease Patients Who Participated in Prior Investigational Studies of RO7234292 (ISIS 443139) Completed NCT03342053 Phase 2 RO7234292 (RG6042)
41 Feasibility and Acceptability of Implementing a Clinic-based Physical Activity Coaching Intervention in People With Premanifest and Early Stage Huntington's Disease Completed NCT03306888 Phase 1, Phase 2
42 A Randomized, Double-blind, Placebo-controlled Prospective Crossover Trial Investigating the Efficacy and Safety of the Treatment With Bupropion in Patients With Apathy in Huntington's Disease Completed NCT01914965 Phase 2 Bupropion;Placebo
43 A Phase 2, Dose-Finding, Randomized, Parallel-Group, Double-Blind, Placebo-Controlled Study, Evaluating the Safety and Efficacy of Pridopidine 45, 67.5, 90, and 112.5 mg Twice-Daily vs Placebo for Symptomatic Treatment in Patients With Huntington's Disease Completed NCT02006472 Phase 2 Pridopidine
44 A Multi-Center, Phase 2 Randomized, Double-Blinded, Placebo-Controlled Study of Dimebon in Subjects With Huntington's Disease Completed NCT00497159 Phase 2 Dimebon
45 A Multicenter, Phase 1-2A, Open-Label, Dosage-Escalation and Randomized, Double-Blinded, Placebo-Controlled Study of Dimebon in Subjects With Huntington's Disease Completed NCT00387270 Phase 1, Phase 2 Dimebon
46 Minocycline Dosing and Safety in Huntington's Disease Completed NCT00029874 Phase 1, Phase 2 Minocycline
47 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Ascending Doses of Intrathecally Administered ISIS 443139 in Patients With Early Manifest Huntington's Disease Completed NCT02519036 Phase 1, Phase 2 ISIS 443139 10 mg;ISIS 443139 30 mg;ISIS 443139 60 mg;ISIS 443139 90 mg;ISIS 443139 120 mg
48 An Exploratory Phase II Study to Determine the Tolerability, Safety, and Activity of a Novel Vasopressin 1a Receptor Antagonist (SRX246) in Irritable Subjects With Huntington's Disease (HD) Completed NCT02507284 Phase 2 SRX246;Placebo
49 A Multi-Center, Double-Blind, Randomized, Parallel Group Tolerability Study of Coenzyme Q10 (UbiquinonE)in PRE-manifest Huntington's Disease Completed NCT00920699 Phase 2 CoQ10
50 A Phase 2, Multi-center, Randomized, Double-blind, Placebo Controlled Study in Subjects With Late Prodromal and Early Manifest Huntington's Disease to Assess the Safety, Tolerability, pk, and Efficacy of Pepinemab Completed NCT02481674 Phase 2 VX15/2503;Placebo

Search NIH Clinical Center for Huntington Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Baclofen
coenzyme Q10
Perphenazine
Pimozide

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Huntington Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Huntington Disease:
Embryonic stem cell-derived GABA progenitor cells for treatment of Huntington's disease
Embryonic/Adult Cultured Cells Related to Huntington Disease:
Lateral Ganglionic Eminence progenitors PMIDs: 22424902

Cochrane evidence based reviews: huntington disease

Genetic Tests for Huntington Disease

Genetic tests related to Huntington Disease:

# Genetic test Affiliating Genes
1 Huntington Disease 28 HTT

Anatomical Context for Huntington Disease

Organs/tissues related to Huntington Disease:

MalaCards : Brain, Eye, Globus Pallidus, Bone Marrow, Thalamus, Cerebellum, Caudate Nucleus
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Huntington Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Brain Striatum Affected by disease

Publications for Huntington Disease

Articles related to Huntington Disease:

(show top 50) (show all 18308)
# Title Authors PMID Year
1
An ovine transgenic Huntington's disease model. 62 57 5
20154343 2010
2
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. 53 62 24 57
19776381 2009
3
Orexin loss in Huntington's disease. 53 62 24 57
15525658 2005
4
Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. 62 57 5
8755937 1996
5
Trinucleotide repeat length instability and age of onset in Huntington's disease. 62 57 5
8401587 1993
6
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset. 62 24 57
31398342 2019
7
Targeting Huntingtin Expression in Patients with Huntington's Disease. 62 24 57
31059641 2019
8
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease. 62 24 57
31104771 2019
9
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. 62 24 57
26849111 2016
10
American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease. 62 24 5
25356969 2014
11
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. 62 24 57
22323755 2012
12
Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. 62 24 57
19915593 2009
13
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. 62 24 57
19249009 2009
14
Specific psychiatric manifestations among preclinical Huntington disease mutation carriers. 62 24 57
17210818 2007
15
Speech and language delay are early manifestations of juvenile-onset Huntington disease. 62 24 57
17030763 2006
16
Juvenile onset Huntington disease resulting from a very large maternal expansion. 62 24 57
16096998 2005
17
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. 62 24 57
16076956 2005
18
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. 62 24 57
15483602 2004
19
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. 62 24 57
14993615 2004
20
Juvenile onset Huntington's disease--clinical and research perspectives. 62 24 57
11553930 2001
21
NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. 53 62 57
17569088 2007
22
Global changes to the ubiquitin system in Huntington's disease. 53 62 57
17687326 2007
23
Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. 53 62 57
17018562 2007
24
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. 53 62 57
16604191 2006
25
Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. 53 62 57
16278236 2005
26
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains. 53 62 57
12354780 2002
27
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. 53 62 57
11607033 2001
28
Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. 53 62 57
11468270 2001
29
Severe deficiencies in dopamine signaling in presymptomatic Huntington's disease mice. 53 62 57
10829080 2000
30
Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy. 53 62 57
10829068 2000
31
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. 53 62 57
10522893 1999
32
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. 53 62 57
10353249 1999
33
Huntingtin interacts with a family of WW domain proteins. 53 62 57
9700202 1998
34
Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine. 53 62 57
9660943 1998
35
Selective vulnerability in Huntington's disease: preferential loss of cannabinoid receptors in lateral globus pallidus. 53 62 57
7944290 1994
36
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration. 62 57
35803234 2022
37
Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease. 62 57
34942093 2022
38
Association of CAG Repeat Length in the Huntington Gene With Cognitive Performance in Young Adults. 62 57
33692166 2021
39
Allele-selective lowering of mutant HTT protein by HTT-LC3 linker compounds. 62 57
31666698 2019
40
A Huntingtin Knockin Pig Model Recapitulates Features of Selective Neurodegeneration in Huntington's Disease. 62 57
29606351 2018
41
RNA phase transitions in repeat expansion disorders. 62 57
28562589 2017
42
Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin. 62 57
26358776 2015
43
Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington's disease. 62 57
24670645 2014
44
Glutathione peroxidase activity is neuroprotective in models of Huntington's disease. 62 57
23974869 2013
45
miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models. 62 57
23810380 2013
46
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. 62 57
22927682 2012
47
Kynurenine 3-monooxygenase inhibition in blood ameliorates neurodegeneration. 62 57
21640374 2011
48
The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus. 62 57
20739295 2010
49
Modulation of energy deficiency in Huntington's disease via activation of the peroxisome proliferator-activated receptor gamma. 62 57
20668093 2010
50
In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington's disease subjects. 62 57
20494921 2010

Variations for Huntington Disease

ClinVar genetic disease variations for Huntington Disease:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HTT NC_000004.11:g.3076606GCA[36_39] MICROSAT Other
812582 GRCh37: 4:3076606-3076716
GRCh38:
2 HTT NC_000004.11:g.3076606GCA[27_35] MICROSAT Other
812592 GRCh37: 4:3076606-3076689
GRCh38:
3 LOC109461479, HTT NC_000004.11:g.3076606GCA[40_?] MICROSAT Pathogenic
409 GRCh37: 4:3076604-3076660
GRCh38: 4:3074935-3074936
4 HTT and overlap with 1 gene(s) NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup) MICROSAT Likely Pathogenic
1687507 GRCh37: 4:3076603-3076604
GRCh38: 4:3074876-3074877
5 HTT NM_001388492.1(HTT):c.8903G>A (p.Gly2968Asp) SNV Uncertain Significance
982633 rs1721646894 GRCh37: 4:3240185-3240185
GRCh38: 4:3238458-3238458
6 HTT and overlap with 1 gene(s) NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup) MICROSAT Uncertain Significance
1301634 GRCh37: 4:3076603-3076604
GRCh38: 4:3074876-3074877
7 LOC109461479, HTT NM_001388492.1(HTT):c.54GCA[13] (p.Gln33_Gln38del) DEL Likely Benign
982628 rs1712396191 GRCh37: 4:3076639-3076660
GRCh38: 4:3074912-3074933
8 HTT NC_000004.11:g.3076606GCA[(?_26)] MICROSAT Benign
812591 GRCh37: 4:3076606-3076606
GRCh38:
9 LOC109461479, HTT NM_002111.8(HTT):c.52CAG[?_25] MICROSAT Benign
21303 GRCh37: 4:3076604-3076606
GRCh38: 4:3074877-3074879
10 LOC109461479, HTT NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) MICROSAT Not Provided
31915 GRCh37: 4:3076604-3076604
GRCh38: 4:3074877-3074877
11 LOC109461479, HTT NM_002111.8(HTT):c.52CAG[36_39] MICROSAT Not Provided
31916 GRCh37: 4:3076604-3076604
GRCh38: 4:3074877-3074877

Expression for Huntington Disease

LifeMap Discovery
Genes differentially expressed in tissues of Huntington Disease patients vs. healthy controls: 35 (show all 11)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ZNF267 zinc finger protein 267 Blood + 3.44 0.000
2 CHMP5 charged multivesicular body protein 5 Blood + 3.36 0.000
3 C12orf29 chromosome 12 open reading frame 29 Blood + 3.24 0.000
4 ATF1 activating transcription factor 1 Blood + 3.23 0.000
5 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing Blood + 3.18 0.000
6 EID1 EP300 interacting inhibitor of differentiation 1 Blood + 3.08 0.000
7 STAM2 signal transducing adaptor molecule 2 Blood + 3.07 0.000
8 SPAST spastin Blood + 3.07 0.000
9 UFL1 UFM1 specific ligase 1 Blood + 3.02 0.000
10 SUB1 SUB1 regulator of transcription Blood + 3.00 0.000
11 ANKRD12 ankyrin repeat domain 12 Blood + 3.00 0.000
Search GEO for disease gene expression data for Huntington Disease.

Pathways for Huntington Disease

Pathways related to Huntington Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.63 MIR330 MIR29C MIR29A

GO Terms for Huntington Disease

Cellular components related to Huntington Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.47 NEAT1 MIR330 MIR29C MIR29A MIR22 MIR132

Biological processes related to Huntington Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 miRNA-mediated gene silencing GO:0035195 9.97 NEAT1 MIR330 MIR29C MIR29A MIR22 MIR132
2 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.54 MIR29C MIR29A MIR132
3 negative regulation of amyloid precursor protein catabolic process GO:1902992 9.5 PRNP MIR29A
4 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.26 MIR29C MIR29A
5 negative regulation of amyloid-beta formation GO:1902430 9.26 PRNP MIR29C MIR29A
6 negative regulation of circulating fibrinogen levels GO:0061754 8.62 MIR29C MIR29A

Molecular functions related to Huntington Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA base-pairing translational repressor activity GO:1903231 9.02 MIR330 MIR29C MIR29A MIR22 MIR132

Sources for Huntington Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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