HD
MCID: HNT016
MIFTS: 73

Huntington Disease (HD)

Categories: Eye diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Huntington Disease

MalaCards integrated aliases for Huntington Disease:

Name: Huntington Disease 57 12 25 20 43 58 72 36 29 13 54 6 44 37 39 70 32
Huntington's Disease 12 73 20 43 53 42 15
Huntington's Chorea 12 20 43 15
Huntington Chorea 57 25 43 58
Hd 57 12 20 72
Juvenile Huntington Disease 58 70
Huntington Chronic Progressive Hereditary Chorea 43
Juvenile Huntington Chorea 58
Jhd 58

Characteristics:

Orphanet epidemiological data:

58
huntington disease
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: any age;
juvenile huntington disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
huntington disease:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 : 43 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 2 and huntington disease-like 1, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways are Huntington disease and Metastatic brain tumor. The drugs Memantine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include Brain, eye and cortex, and related phenotypes are chorea and mental deterioration

Disease Ontology : 12 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 : 20 Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins. It is caused by changes ( mutations ) in the HTT gene and is inherited in an autosomal dominant manner. Treatment is based on the symptoms present in each person and may include various medications. There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page.

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 05-Apr-2021)

MedlinePlus : 42 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 percent 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

NINDS : 53 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.

KEGG : 36 Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine (polyQ) close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. Full-length Htt is cleaved by proteases in the cytoplasm, leading to the formation of cytoplasmic and neuritic aggregates. mHtt also alters vesicular transport and recycling, causes cytosolic and mitochondrial Ca2+ overload, triggers endoplasmic reticulum stress through proteasomal dysfunction, and impairs autophagy function, increasing neuronal death susceptibility. N-terminal fragments containing the polyQ strech translocate to the nucleus where they impair transcription and induce neuronal death.

UniProtKB/Swiss-Prot : 72 Huntington disease: 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.

Wikipedia : 73 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 491)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 2 33.6 LOC109029536 JPH3 HTT
2 huntington disease-like 1 33.2 PRNP JPH3
3 autosomal dominant cerebellar ataxia 31.2 PRNP MIR22 JPH3 HTT
4 supranuclear palsy, progressive, 1 31.2 PRNP MIR132 HTT
5 dentatorubral-pallidoluysian atrophy 31.2 PRNP JPH3 HTT
6 multiple system atrophy 1 30.9 PRNP MIR132 HTT
7 dementia 30.8 PRNP MIR132 JPH3 HTT
8 dementia, lewy body 30.5 PRNP MIR132 HTT
9 spinocerebellar ataxia 8 30.4 JPH3 HTT-AS HTT HAR1A
10 cerebellar disease 30.3 MIR22 JPH3 HTT
11 muscular dystrophy, duchenne type 30.2 MIR29C MIR29A MIR22
12 central nervous system disease 30.2 PRNP MIR29C MIR29A MIR22 MIR132 HTT
13 nervous system disease 30.0 PRNP MIR330 MIR29C MIR29A MIR22 MIR132
14 disease of mental health 29.9 PRNP MIR330 MIR29A MIR22 MIR132 HTT
15 leukemia, acute myeloid 29.5 TUG1 MIR330 MIR29A MIR22 MEG3
16 huntington disease-like syndrome 11.7
17 juvenile huntington disease 11.6
18 spinocerebellar ataxia 17 11.6
19 huntington disease-like 3 11.4
20 huntington disease-like syndrome due to c9orf72 expansions 11.4
21 mcleod syndrome 11.2
22 striatonigral degeneration, infantile 11.1
23 cerebral degeneration 11.0
24 dysphagia 11.0
25 dystonia 3, torsion, x-linked 11.0
26 swallowing disorders 11.0
27 chorea, childhood-onset, with psychomotor retardation 10.9
28 choreatic disease 10.9
29 dystonia 10.5
30 alzheimer disease 10.5
31 movement disease 10.5
32 torsion dystonia 4 10.5 PRNP HIP1
33 toxic encephalopathy 10.5 PRNP MIR29A HTT
34 ataxia and polyneuropathy, adult-onset 10.5
35 parkinsonism 10.4
36 tremor 10.4
37 dementia - subcortical 10.4
38 autonomic dysfunction 10.4
39 parkinson disease, late-onset 10.4
40 amyotrophic lateral sclerosis 1 10.3
41 lateral sclerosis 10.3
42 esophagus squamous cell carcinoma 10.3 TUG1 MEG3
43 sexual disorder 10.3
44 kuru 10.2 PRNP HTT
45 spinocerebellar ataxia 1 10.2
46 depression 10.2
47 pik3ca-related overgrowth syndrome 10.2
48 lymphatic system cancer 10.2 MIR29C MIR29A MIR22 MIR132
49 aphasia 10.2
50 apraxia 10.2

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 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002072
2 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
3 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
4 depressivity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000716
5 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
6 myoclonus 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001336
7 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
8 irritability 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000737
9 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
10 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
11 dystonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001332
12 weight loss 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001824
13 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
14 abnormality of the sense of smell 58 31 frequent (33%) Frequent (79-30%) HP:0004408
15 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
16 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
17 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
18 disinhibition 58 31 frequent (33%) Frequent (79-30%) HP:0000734
19 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
20 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
21 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
22 hypokinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002375
23 agitation 58 31 frequent (33%) Frequent (79-30%) HP:0000713
24 bradykinesia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002067
25 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
26 delusions 58 31 frequent (33%) Frequent (79-30%) HP:0000746
27 staring gaze 58 31 frequent (33%) Frequent (79-30%) HP:0025401
28 abnormal libido 58 31 frequent (33%) Frequent (79-30%) HP:0031845
29 hostility 58 31 frequent (33%) Frequent (79-30%) HP:0031473
30 bradyphrenia 58 31 frequent (33%) Frequent (79-30%) HP:0031843
31 seizure 31 frequent (33%) HP:0001250
32 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
33 insomnia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100785
34 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
35 rigidity 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002063
36 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
37 abnormality of the cerebral white matter 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002500
38 oral-pharyngeal dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0200136
39 degeneration of the striatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0040140
40 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
41 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
42 polyphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002591
43 choking episodes 58 31 occasional (7.5%) Occasional (29-5%) HP:0030842
44 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
45 caudate atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002340
46 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
47 decreased body mass index 58 31 occasional (7.5%) Occasional (29-5%) HP:0045082
48 suicidal ideation 58 31 occasional (7.5%) Occasional (29-5%) HP:0031589
49 alcoholism 58 31 occasional (7.5%) Occasional (29-5%) HP:0030955
50 abnormal circulating cholesterol concentration 31 occasional (7.5%) HP:0003107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

UMLS symptoms related to Huntington Disease:


seizures; tremor; myoclonus; back pain; headache; syncope; personality changes; pain; bradykinesia; chronic pain; sciatica; 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 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Cysteamine Approved, Investigational Phase 2, Phase 3 60-23-1 6058
3
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
4
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
5
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585 135398745
6
Minocycline Approved, Investigational Phase 2, Phase 3 10118-90-8 5281021
7
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
8
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
9
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 3 14838-15-4 26934
10
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
11
Quinidine Approved, Investigational Phase 3 56-54-2 441074
12
Metformin Approved Phase 3 657-24-9 4091 14219
13
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
14
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
15 Tiapride Hydrochloride Phase 3
16 Anti-Bacterial Agents Phase 2, Phase 3
17 Anticonvulsants Phase 3
18 Neuroprotective Agents Phase 3
19 Excitatory Amino Acid Antagonists Phase 3
20 Adrenergic alpha-Antagonists Phase 3
21 Anti-Arrhythmia Agents Phase 3
22 Respiratory System Agents Phase 3
23 Sodium Channel Blockers Phase 3
24 Adrenergic Antagonists Phase 3
25 Cytochrome P-450 Enzyme Inhibitors Phase 3
26 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
27 Muscarinic Antagonists Phase 3
28 Quinidine gluconate Phase 3
29 Cholinergic Agents Phase 3
30 Antiparasitic Agents Phase 3
31 Antiprotozoal Agents Phase 3
32 Diuretics, Potassium Sparing Phase 3
33 Antitussive Agents Phase 3
34 Antimalarials Phase 3
35 Cholinergic Antagonists Phase 3
36 Hypoglycemic Agents Phase 3
37 Biguanides Phase 3
38 Ubiquinone Phase 3
39 Trace Elements Phase 3
40 Nutrients Phase 3
41 Vitamins Phase 3
42 Micronutrients Phase 3
43
Fenofibrate Approved Phase 2 49562-28-9 3339
44
Tetracycline Approved, Vet_approved Phase 1, Phase 2 60-54-8 5353990
45
Lithium carbonate Approved Phase 2 554-13-2
46
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
47
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
48
Citalopram Approved Phase 2 59729-33-8 2771
49
Bupropion Approved Phase 2 34841-39-9, 34911-55-2 444
50
Risperidone Approved, Investigational Phase 2 106266-06-2 5073

Interventional clinical trials:

(show top 50) (show all 199)
# 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 A Randomized, Double-Blind, Placebo-Controlled Study of Tetrabenazine for the Treatment of Huntington's Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
6 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
7 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
8 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
9 Neuroleptic and Huntington Disease. Comparison of : Olanzapine, la Tetrabenazine and Tiapride. A Multicentric, Randomised, Controlled Study. Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
10 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
11 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
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 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™)
15 Impact of Deutetrabenazine on Functional Speech and Gait Dynamics in Huntington Disease Recruiting NCT04713982 Phase 2, Phase 3 Deutetrabenazine
16 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 Recruiting NCT04556656 Phase 3 Pridopidine;Placebo
17 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 Recruiting NCT04102579 Phase 3 Valbenazine;Placebo
18 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
19 An Open-Label Extension Study to Evaluate the Long-Term Safety and Tolerability of Intrathecally Administered RO7234292 (RG6042) in Patients With Huntington's Disease Recruiting NCT03842969 Phase 3 RO7234292 (RG6042)
20 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 Recruiting NCT03761849 Phase 3 RO7234292;Placebo
21 Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease Enrolling by invitation NCT04400331 Phase 3 Valbenazine
22 "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" Not yet recruiting NCT04826692 Phase 3 Metformin;Placebo
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. Not yet 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 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3 coenzyme Q10
26 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
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 A Phase IIa, Randomized, Double-blind, Placebo-controlled Study of the Safety and Efficacy of Fenofibrate as a Treatment for Huntington's Disease Unknown status NCT03515213 Phase 2 Fenofibrate;Placebo
29 Phase IIa, Double-blind, Randomized, Placebo-controlled Study of the Efficacy and Safety of SOM3355 in Huntington's Disease (HD) Patients With Chorea Movements. Completed NCT03575676 Phase 2 SOM3355 100mg BID;SOM3355 200mg BID;Placebo BID
30 NMDA-Receptor Blockade in Huntington's Chorea Completed NCT00001930 Phase 2 Amantadine
31 Phenylbutyrate Development for Huntington's Disease (PHEND-HD): A Multi-Center, Double-Blind, Placebo-Controlled Study With Open-Label Follow-Up to Determine the Safety and Tolerability of Phenylbutyrate in Subjects With Huntington's Disease Completed NCT00212316 Phase 2 sodium phenylbutyrate
32 A Pilot Trial of Triheptanoin for People With Amyotrophic Lateral Sclerosis (PALS) Completed NCT03506425 Phase 1, Phase 2 Triheptanoin
33 A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease; a Phase IIb Study Completed NCT01458470 Phase 2 Memantine
34 Proof of Concept of an Anaplerotic Study Using Brain Phosphorus Magnetic Resonance Spectroscopy in Huntington Disease Completed NCT01882062 Phase 2 Triheptanoin 1g/kg/day
35 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;PBT2;Placebo
36 Minocycline Dosing and Safety in Huntington's Disease Completed NCT00029874 Phase 1, Phase 2 Minocycline
37 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
38 A Phase 2, Multi-center, Randomized, Double-blind, Placebo Controlled Study in Subjects With Late Prodromal and Early Manifest Huntington's Disease (HD) to Assess the Safety, Tolerability, Pharmacokinetics, and Efficacy of VX15/2503 Completed NCT02481674 Phase 2 VX15/2503;Placebo
39 A Multi-Center, Phase 2 Randomized, Double-Blinded, Placebo-Controlled Study of Dimebon in Subjects With Huntington's Disease Completed NCT00497159 Phase 2 Dimebon
40 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
41 A Phase 2, Double-blind Randomized, Sequential Treatment Group, Placebo-controlled Study To Evaluate The Safety, Tolerability And Brain Cortico-striatal Function Of 2 Doses Of Pf-02545920 In Subjects With Early Huntington's Disease Completed NCT01806896 Phase 2 PF-02545920;Placebo;PF-02545920;Placebo
42 Stimulation of Tyrosine Kinase and ERK Signaling Pathways in Huntington's Disease Completed NCT00095355 Phase 2 Lithium;Divalproex
43 Creatine Therapy for Huntington's Disease Completed NCT00026988 Phase 1, Phase 2 Creatine
44 A Double Blind, Randomized, Cross Over, Placebo Controlled Phase 2 Clinical Trial to Asses Neuroprotection by Cannabinoids in Huntington's Disease Completed NCT01502046 Phase 2 delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD);Placebo
45 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
46 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)
47 Creatine Safety & Tolerability in Huntington's Disease (CREST-X): A Single-Center, Open-Label, Long-Term Safety & Tolerability Extension Study of Creatine in Subjects With HD Completed NCT01412151 Phase 2 Creatine monohydrate
48 A Double-blind, Placebo-controlled Study in Huntington's Disease Patients to Determine the Safety and Tolerability of SEN0014196 Completed NCT01521585 Phase 2 SEN0014196;SEN0014196;Placebo
49 Premanifest Huntington's Disease Extension Study II: Creatine Safety & Tolerability Completed NCT01411163 Phase 2 Creatine monohydrate
50 A Phase 2, Dose-Finding, Randomized, Parallel-Group, Double-Blind, Placebo-Controlled Study, Evaluating the Safety and Efficacy of Pridopidine 45 mg, 67.5 mg, 90 mg, and 112.5 mg Twice-Daily Versus Placebo for Symptomatic Treatment in Patients With Huntington's Disease Completed NCT02006472 Phase 2 Pridopidine

Search NIH Clinical Center for Huntington Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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 29 HTT

Anatomical Context for Huntington Disease

MalaCards organs/tissues related to Huntington Disease:

40
Brain, Eye, Cortex, Globus Pallidus, Skeletal Muscle, Caudate Nucleus, Skin
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 15517)
# Title Authors PMID Year
1
An ovine transgenic Huntington's disease model. 61 6 57
20154343 2010
2
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. 54 61 25 57
19776381 2009
3
Orexin loss in Huntington's disease. 54 61 57 25
15525658 2005
4
Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. 61 57 6
8755937 1996
5
Trinucleotide repeat length instability and age of onset in Huntington's disease. 57 6 61
8401587 1993
6
Targeting Huntingtin Expression in Patients with Huntington's Disease. 25 57 61
31059641 2019
7
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. 57 25 61
26849111 2016
8
Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. 61 57 25
19915593 2009
9
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. 57 25 61
19249009 2009
10
Specific psychiatric manifestations among preclinical Huntington disease mutation carriers. 61 25 57
17210818 2007
11
Speech and language delay are early manifestations of juvenile-onset Huntington disease. 57 25 61
17030763 2006
12
Juvenile onset Huntington disease resulting from a very large maternal expansion. 57 25 61
16096998 2005
13
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. 25 57 61
16076956 2005
14
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. 61 57 25
15483602 2004
15
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. 57 25 61
14993615 2004
16
Juvenile onset Huntington's disease--clinical and research perspectives. 61 57 25
11553930 2001
17
NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. 61 54 57
17569088 2007
18
Global changes to the ubiquitin system in Huntington's disease. 54 57 61
17687326 2007
19
Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. 61 54 57
17018562 2007
20
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. 57 54 61
16604191 2006
21
Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. 54 57 61
16278236 2005
22
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains. 57 54 61
12354780 2002
23
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. 54 57 61
11607033 2001
24
Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. 54 57 61
11468270 2001
25
Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy. 54 61 57
10829068 2000
26
Severe deficiencies in dopamine signaling in presymptomatic Huntington's disease mice. 54 61 57
10829080 2000
27
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. 61 54 57
10522893 1999
28
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. 54 61 57
10353249 1999
29
Huntingtin interacts with a family of WW domain proteins. 54 57 61
9700202 1998
30
Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine. 61 54 57
9660943 1998
31
Selective vulnerability in Huntington's disease: preferential loss of cannabinoid receptors in lateral globus pallidus. 57 61 54
7944290 1994
32
Allele-selective lowering of mutant HTT protein by HTT-LC3 linker compounds. 61 57
31666698 2019
33
A Huntingtin Knockin Pig Model Recapitulates Features of Selective Neurodegeneration in Huntington's Disease. 57 61
29606351 2018
34
RNA phase transitions in repeat expansion disorders. 57 61
28562589 2017
35
Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin. 61 57
26358776 2015
36
Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington's disease. 57 61
24670645 2014
37
Glutathione peroxidase activity is neuroprotective in models of Huntington's disease. 61 57
23974869 2013
38
miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models. 57 61
23810380 2013
39
Kynurenine 3-monooxygenase inhibition in blood ameliorates neurodegeneration. 57 61
21640374 2011
40
The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus. 57 61
20739295 2010
41
Modulation of energy deficiency in Huntington's disease via activation of the peroxisome proliferator-activated receptor gamma. 57 61
20668093 2010
42
In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington's disease subjects. 57 61
20494921 2010
43
Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction. 61 57
20185558 2010
44
CalDAG-GEFI down-regulation in the striatum as a neuroprotective change in Huntington's disease. 61 57
20147317 2010
45
Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis. 57 61
20089533 2010
46
Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles). 61 57
19455596 2010
47
Haplotype background, repeat length evolution, and Huntington's disease. 57 61
20004772 2009
48
The A2A adenosine receptor rescues the urea cycle deficiency of Huntington's disease by enhancing the activity of the ubiquitin-proteasome system. 61 57
19443488 2009
49
Huntington's disease: the case for genetic modifiers. 25 61 54
19725930 2009
50
Acetylation targets mutant huntingtin to autophagosomes for degradation. 61 57
19345187 2009

Variations for Huntington Disease

ClinVar genetic disease variations for Huntington Disease:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HTT NC_000004.11:g.3076606GCA[36_39] Microsatellite other 812582 GRCh37:
GRCh38:
2 HTT NC_000004.11:g.3076606GCA[27_35] Microsatellite other 812592 GRCh37:
GRCh38:
3 LOC109461479 , HTT NC_000004.11:g.3076606GCA[(40_?)] Microsatellite Pathogenic 409 rs71180116 GRCh37: 4:3076604-3076660
GRCh38: 4:3074935-3074936
4 LOC109461479 , HTT NM_002111.8(HTT):c.52CAG[(27_35)] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) Microsatellite Pathogenic 31915 rs71180116 GRCh37: 4:3076604-3076604
GRCh38: 4:3074877-3074877
5 LOC109461479 , HTT NM_002111.8(HTT):c.52CAG[(36_39)] Microsatellite Pathogenic 31916 rs71180116 GRCh37: 4:3076604-3076604
GRCh38: 4:3074877-3074877
6 LOC109461479 , HTT NM_001388492.1(HTT):c.102_103del (p.Gln35fs) Deletion Pathogenic 1033478 GRCh37: 4:3076648-3076649
GRCh38: 4:3074921-3074922
7 LOC109461479 , HTT NM_001388492.1(HTT):c.105_108del (p.Gln35fs) Deletion Pathogenic 1033479 GRCh37: 4:3076651-3076654
GRCh38: 4:3074924-3074927
8 LOC109461479 , HTT NM_001388492.1(HTT):c.95_96del (p.Gln32fs) Deletion Pathogenic 1033483 GRCh37: 4:3076641-3076642
GRCh38: 4:3074914-3074915
9 HTT NM_002111.8(HTT):c.8909G>A (p.Gly2970Asp) SNV Uncertain significance 982633 GRCh37: 4:3240185-3240185
GRCh38: 4:3238458-3238458
10 LOC109461479 , HTT NM_002111.8(HTT):c.93_114del (p.Gln31fs) Deletion Likely benign 982628 GRCh37: 4:3076639-3076660
GRCh38: 4:3074912-3074933
11 LOC109461479 , HTT NM_002111.6(HTT):c.52CAG[(?_25)] Microsatellite Benign 21303 rs71180116 GRCh37: 4:3076604-3076606
GRCh38: 4:3074877-3074879
12 HTT NC_000004.11:g.3076606GCA[(?_26)] Microsatellite Benign 812591 GRCh37: 4:3076606-3076606
GRCh38:

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 KEGG:

36
# Name Kegg Source Accession
1 Huntington disease hsa05016

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

# Super pathways Score Top Affiliating Genes
1 10.07 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 inclusion body GO:0016234 8.62 PRNP HTT

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

# Name GO ID Score Top Affiliating Genes
1 miRNA mediated inhibition of translation GO:0035278 9.54 MIR29C MIR29A MIR132
2 negative regulation of vascular endothelial cell proliferation GO:1905563 9.48 MIR29C MIR132
3 positive regulation of epidermal growth factor receptor signaling pathway GO:0045742 9.46 MIR29A HIP1
4 positive regulation of vascular endothelial cell proliferation GO:1905564 9.43 MIR29A MIR132
5 regulation of DNA methylation GO:0044030 9.4 MIR29C MIR29A
6 negative regulation of amyloid precursor protein catabolic process GO:1902992 9.32 PRNP MIR29A
7 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.26 MIR29C MIR29A
8 gene silencing by miRNA GO:0035195 9.17 NEAT1 MIR330 MIR29C MIR29A MIR22 MIR132
9 negative regulation of circulating fibrinogen levels GO:0061754 9.16 MIR29C MIR29A
10 negative regulation of amyloid-beta formation GO:1902430 9.13 PRNP MIR29C MIR29A

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIR330 MIR29C MIR29A MIR22 MIR132

Sources for Huntington Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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