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HD
MCID: HNT016
MIFTS: 71

Huntington Disease (HD)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Huntington Disease

About this section

MalaCards integrated aliases for Huntington Disease:

Name: Huntington Disease 56 12 24 52 25 58 73 36 13 54 43 37 39 71 32
Huntington's Disease 12 74 52 25 53 42 15
Huntington's Chorea 12 52 25 29 6 15
Huntington Chorea 56 24 25 58
Hd 56 12 52 73
Juvenile Huntington Disease 58 71
Huntington Chronic Progressive Hereditary Chorea 25
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:

56
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:

24
Penetrance Alleles that contain 36 or more cag repeats are considered hd-causing alleles and confer risk of developing the disease....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:12858
OMIM 56 143100
KEGG 36 H00059
ICD9CM 34 333.4
MeSH 43 D006816
NCIt 49 C82342
SNOMED-CT 67 58756001
ICD10 32 G10
MESH via Orphanet 44 D006816
ICD10 via Orphanet 33 G10
UMLS via Orphanet 72 C0020179 C0751208
MedGen 41 C0020179
UMLS 71 C0020179 C0751208
Sources

Summaries for Huntington Disease

About this section
Genetics Home Reference : 25 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 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 Dopamine and Amantadine have been mentioned in the context of this disorder. Affiliated tissues include Brain, testes and cortex, and related phenotypes are spasticity and eeg abnormality

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.

NIH Rare Diseases : 52 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 : 56 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)

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 IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction.

UniProtKB/Swiss-Prot : 73 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 : 74 Huntington's disease (HD), also known as Huntington's chorea, is an inherited disorder that results in... more...

GeneReviews: NBK1305
Sources

Related Diseases for Huntington Disease

About this section

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 673)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 1 35.2 PRNP JPH3
2 choreatic disease 32.7 JPH3 HTT BDNF
3 dentatorubral-pallidoluysian atrophy 31.7 PRNP JPH3 HTT
4 autosomal dominant cerebellar ataxia 31.5 PRNP MIR22 JPH3 HTT
5 dementia 31.3 PRNP JPH3 HTT BDNF
6 supranuclear palsy, progressive, 1 31.2 PRNP MIR132 HTT
7 pick disease of brain 31.0 PRNP HTT BDNF
8 prion disease 31.0 PRNP MIR22 MIR132 HTT
9 multiple system atrophy 1 31.0 PRNP MIR132 HTT
10 parkinson disease, late-onset 30.9 PRNP NEAT1 MIR22 MIR132 HTT BDNF
11 dementia, lewy body 30.8 PRNP MIR132 HTT BDNF
12 spinocerebellar ataxia 8 30.7 JPH3 HTT HAR1A
13 amyotrophic lateral sclerosis 1 30.6 PRNP NEAT1 MIR22 MIR132 HTT BDNF
14 relapsing-remitting multiple sclerosis 30.3 TUG1 NEAT1 BDNF
15 disease of mental health 30.0 MIR22 MIR132 BDNF-AS BDNF
16 alzheimer disease 29.9 PRNP MIR29A MIR22 MIR132 HAR1B HAR1A
17 central nervous system disease 29.7 PRNP MIR29A MIR22 MIR132 HTT HAR1A
18 nervous system disease 29.6 PRNP MIR29C MIR29A MIR22 MIR132 HTT
19 astrocytoma 29.3 NEAT1 HAR1B HAR1A DGCR5
20 muscular dystrophy, duchenne type 29.3 MIR29C MIR29A MIR22
21 schizophrenia 28.4 MIR29C MIR29A MIR132 HAR1B HAR1A BDNF-AS
22 huntington disease-like 2 12.9
23 juvenile huntington disease 12.7
24 huntington disease-like syndrome 12.7
25 huntington disease-like 3 12.5
26 huntington disease-like syndrome due to c9orf72 expansions 12.5
27 spinocerebellar ataxia 17 12.3
28 hirschsprung disease 1 11.7
29 mcleod syndrome 11.6
30 cerebral degeneration 11.5
31 dysphagia 11.5
32 striatonigral degeneration, infantile 11.4
33 hemidystonia-hemiatrophy syndrome 11.2
34 leprosy 3 11.2
35 chromosome 17q11.2 deletion syndrome 11.2
36 dystonia 3, torsion, x-linked 11.1
37 swallowing disorders 11.1
38 chorea, childhood-onset, with psychomotor retardation 10.9
39 dystonia 10.6
40 ataxia and polyneuropathy, adult-onset 10.5
41 movement disease 10.5
42 toxic encephalopathy 10.5 PRNP MIR29A HTT BDNF
43 end stage renal failure 10.4
44 tremor 10.4
45 dementia - subcortical 10.4
46 autonomic dysfunction 10.4
47 kidney disease 10.3
48 childhood type dermatomyositis 10.3
49 lateral sclerosis 10.3
50 b cell deficiency 10.3

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
Sources

Symptoms & Phenotypes for Huntington Disease

About this section

Human phenotypes related to Huntington Disease:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
2 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
3 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
4 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000708
5 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
6 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
7 dementia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000726
8 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
9 rigidity 58 31 occasional (7.5%) Frequent (79-30%) HP:0002063
10 seizures 58 31 Frequent (79-30%) HP:0001250
11 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
12 depressivity 58 31 Frequent (79-30%) HP:0000716
13 chorea 58 31 Frequent (79-30%) HP:0002072
14 gait ataxia 58 31 Frequent (79-30%) HP:0002066
15 cerebellar atrophy 58 31 Occasional (29-5%) HP:0001272
16 bradykinesia 58 31 Frequent (79-30%) HP:0002067
17 abnormality of eye movement 31 HP:0000496
18 ataxia 58 Frequent (79-30%)
19 myoclonus 58 Occasional (29-5%)
20 hyperactivity 58 Frequent (79-30%)
21 irritability 58 Frequent (79-30%)
22 weight loss 58 Frequent (79-30%)
23 dystonia 58 Frequent (79-30%)
24 ventriculomegaly 58 Occasional (29-5%)
25 abnormality of the cerebral white matter 58 Frequent (79-30%)
26 progressive cerebellar ataxia 58 Occasional (29-5%)
27 cerebellar vermis atrophy 58 Occasional (29-5%)
28 neuronal loss in central nervous system 31 HP:0002529
29 gliosis 31 HP:0002171
30 personality changes 31 HP:0000751
31 abnormal involuntary eye movements 58 Frequent (79-30%)
32 broad-based gait 58 Frequent (79-30%)
33 oral motor hypotonia 58 Frequent (79-30%)
34 neuronal loss in basal ganglia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Huntington Disease:


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

Drugs & Therapeutics for Huntington Disease

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

(show top 50) (show all 180)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Amantadine Approved Phase 4 768-94-5 2130
3
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
4
Tetrabenazine Approved, Investigational Phase 4 58-46-8 6018
5 Analgesics Phase 4
6 Dopamine Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Antiparkinson Agents Phase 4
10 Antiviral Agents Phase 4
11 Anti-Bacterial Agents Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Antibiotics, Antitubercular Phase 4
14 Neurotransmitter Agents Phase 4
15 Adrenergic Agents Phase 4
16
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
17
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
18
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
19
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
20
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
21
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
22
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
23
Quinidine Approved, Investigational Phase 3 56-54-2 441074
24
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
25
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
26
Epigallocatechin Experimental, Investigational Phase 3 970-74-1 72277
27
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
28 Gastrointestinal Agents Phase 3
29 Tranquilizing Agents Phase 3
30 Antipsychotic Agents Phase 3
31 Dopamine Antagonists Phase 3
32 Psychotropic Drugs Phase 3
33 Central Nervous System Depressants Phase 3
34 Serotonin Agents Phase 3
35 Neuroprotective Agents Phase 3
36 Anticonvulsants Phase 3
37 Protective Agents Phase 3
38 Serotonin Uptake Inhibitors Phase 3
39 Autonomic Agents Phase 3
40 Antioxidants Phase 3
41 Antiemetics Phase 3
42 Tiapride Hydrochloride Phase 3
43 Potassium Channel Blockers Phase 2, Phase 3
44 Anti-Arrhythmia Agents Phase 3
45 Respiratory System Agents Phase 3
46 Adrenergic alpha-Antagonists Phase 3
47 Cytochrome P-450 Enzyme Inhibitors Phase 3
48 Adrenergic Antagonists Phase 3
49 Sodium Channel Blockers Phase 3
50 Antiparasitic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 219)
# Name Status NCT ID Phase Drugs
1 A Pilot Study of Memantine for Cognitive and Behavioral Dysfunction in Huntington's Disease" Unknown status NCT00652457 Phase 4 Memantine
2 Effect of Tetrabenazine on Stroop Interference in Huntington Disease Completed NCT01834911 Phase 4 Tetrabenazine withdrawal
3 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
4 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 A Pilot Study Assessing Impulsivity in Patients With Huntington's Disease on Xenazine (Tetrabenazine) Recruiting NCT02509793 Phase 4 Tetrabenazine
6 Multicentric Trial of the Treatment of Huntington's Disease by Cysteamine (RP103) Unknown status NCT02101957 Phase 2, Phase 3 RP103;Placebo
7 Minocycline Attenuate Postoperative Cognitive Dysfunction and Delirium: A Multicenter, Randomized, Double-Blind Clinical Trail Unknown status NCT02928692 Phase 3 Minocycline;Placebo
8 A Randomized, Double-Blind, Placebo-Controlled Study of Tetrabenazine for the Treatment of Huntington's Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
9 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
10 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™)
11 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
12 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
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 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
15 Neuroleptic and Huntington Disease. Comparison of : Olanzapine, la Tetrabenazine and Tiapride. A Multicentric, Randomised, Controlled Study. Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
16 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
17 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
18 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
19 Effects of Dalfampridine on Cognition in Multiple Sclerosis Completed NCT02006160 Phase 2, Phase 3 dalfampridine;placebo
20 Double-blind, Randomised, Placebo-controlled Parallel Group Study to Investigate the Effect of EGCG Supplementation on Disease Progression of Patients With Multiple System Atrophy (MSA) Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
21 Therapeutic Use of Piracetam for Treatment of Patients Suffering From Tardive Dyskinesia: a Double Blind, Placebo-Controlled Crossover Study Completed NCT00190008 Phase 3 piracetam
22 Creatine as a New Treatment for Schizophrenia:A Double-Blind Trial Completed NCT00140192 Phase 3 creatine
23 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
24 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's Disease Recruiting NCT04102579 Phase 3 Valbenazine;Placebo
25 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)
26 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
27 A Randomized, Double-Blind, Placebo-Controlled Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents Recruiting NCT03813238 Phase 3 Deutetrabenazine;Placebo
28 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3 coenzyme Q10
29 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
30 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)
31 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
32 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
33 NMDA-Receptor Blockade in Huntington's Chorea Completed NCT00001930 Phase 2 Amantadine
34 A Phase 2, Randomized, Placebo Controlled, Double Blind Proof-of-concept Study Of The Efficacy And Safety Of Pf-02545920 In Subjects With Huntington's Disease Completed NCT02197130 Phase 2 PF-02545920;PF-02545920
35 A Multi-Center, Phase 2 Randomized, Double-Blinded, Placebo-Controlled Study of Dimebon in Subjects With Huntington's Disease Completed NCT00497159 Phase 2 Dimebon
36 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)
37 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
38 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
39 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
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 Multicenter, Multinational, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Laquinimod (0.5, 1.0 and 1.5 mg/Day) as Treatment in Patients With Huntington's Disease Completed NCT02215616 Phase 2 Laquinimod;Placebo
42 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
43 A Randomized, Placebo-Controlled Pilot Study in Huntington's Disease (CIT-HD) Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
44 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
45 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
46 Premanifest Huntington's Disease: Creatine Safety & Tolerability Extension Study Completed NCT01411150 Phase 2 Creatine Monohydrate
47 Minocycline Dosing and Safety in Huntington's Disease Completed NCT00029874 Phase 1, Phase 2 Minocycline
48 Multicentric Intracerebral Grafting in Huntington's Disease Completed NCT00190450 Phase 2
49 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
50 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

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

Sources

Genetic Tests for Huntington Disease

About this section

Genetic tests related to Huntington Disease:

# Genetic test Affiliating Genes
1 Huntington's Chorea 29 HTT
Sources

Anatomical Context for Huntington Disease

About this section

MalaCards organs/tissues related to Huntington Disease:

40
Brain, Testes, Cortex, Eye, Globus Pallidus, Bone, Skeletal Muscle
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
Sources

Publications for Huntington Disease

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Articles related to Huntington Disease:

(show top 50) (show all 14493)
# Title Authors PMID Year
1
An ovine transgenic Huntington's disease model. 61 56 6
20154343 2010
2
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. 54 61 24 56
19776381 2009
3
Orexin loss in Huntington's disease. 54 61 24 56
15525658 2005
4
Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. 61 56 6
8755937 1996
5
Trinucleotide repeat length instability and age of onset in Huntington's disease. 61 56 6
8401587 1993
6
Targeting Huntingtin Expression in Patients with Huntington's Disease. 61 42 56
31059641 2019
7
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. 61 24 56
26849111 2016
8
Recommendations for the predictive genetic test in Huntington's disease. 61 24 6
22642570 2013
9
Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. 61 24 56
19915593 2009
10
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. 61 24 56
19249009 2009
11
Specific psychiatric manifestations among preclinical Huntington disease mutation carriers. 61 24 56
17210818 2007
12
Speech and language delay are early manifestations of juvenile-onset Huntington disease. 61 24 56
17030763 2006
13
Juvenile onset Huntington disease resulting from a very large maternal expansion. 61 24 56
16096998 2005
14
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. 61 24 56
16076956 2005
15
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. 61 24 56
15483602 2004
16
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. 61 24 56
14993615 2004
17
Technical standards and guidelines for Huntington disease testing. 61 24 6
14726813 2004
18
Juvenile onset Huntington's disease--clinical and research perspectives. 61 24 56
11553930 2001
19
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. 61 24 56
8458085 1993
20
NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. 54 61 56
17569088 2007
21
Global changes to the ubiquitin system in Huntington's disease. 54 61 56
17687326 2007
22
Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. 54 61 56
17018562 2007
23
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. 54 61 56
16604191 2006
24
Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. 54 61 56
16278236 2005
25
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains. 54 61 56
12354780 2002
26
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. 54 61 56
11607033 2001
27
Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. 54 61 56
11468270 2001
28
Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy. 54 61 56
10829068 2000
29
Severe deficiencies in dopamine signaling in presymptomatic Huntington's disease mice. 54 61 56
10829080 2000
30
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. 54 61 56
10522893 1999
31
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. 54 61 56
10353249 1999
32
Huntingtin interacts with a family of WW domain proteins. 54 61 56
9700202 1998
33
Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine. 54 61 56
9660943 1998
34
Selective vulnerability in Huntington's disease: preferential loss of cannabinoid receptors in lateral globus pallidus. 54 61 56
7944290 1994
35
Allele-selective lowering of mutant HTT protein by HTT-LC3 linker compounds. 61 56
31666698 2019
36
A Huntingtin Knockin Pig Model Recapitulates Features of Selective Neurodegeneration in Huntington's Disease. 61 56
29606351 2018
37
RNA phase transitions in repeat expansion disorders. 61 56
28562589 2017
38
Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin. 61 56
26358776 2015
39
Diagnostic genetic testing for Huntington's disease. 61 6
25169240 2015
40
Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington's disease. 61 56
24670645 2014
41
Glutathione peroxidase activity is neuroprotective in models of Huntington's disease. 61 56
23974869 2013
42
miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models. 61 56
23810380 2013
43
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. 61 6
22990145 2013
44
Kynurenine 3-monooxygenase inhibition in blood ameliorates neurodegeneration. 61 56
21640374 2011
45
The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus. 61 56
20739295 2010
46
Modulation of energy deficiency in Huntington's disease via activation of the peroxisome proliferator-activated receptor gamma. 61 56
20668093 2010
47
In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington's disease subjects. 61 56
20494921 2010
48
Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction. 61 56
20185558 2010
49
CalDAG-GEFI down-regulation in the striatum as a neuroprotective change in Huntington's disease. 61 56
20147317 2010
50
Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis. 61 56
20089533 2010
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Variations for Huntington Disease

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ClinVar genetic disease variations for Huntington Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HTT NM_002111.6(HTT):c.53_55[(41_?)] (p.Gln40(41_?))insertion Pathogenic 409 rs71180116 4:3076604-3076660 4:3074935-3074936
2 HTT NM_002111.6(HTT):c.52CAG(27_35) (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)NT expansion Pathogenic 31915 rs71180116 4:3076604-3076604 4:3074877-3074877
3 HTT NM_002111.7(HTT):c.52CAG(36_39)NT expansion Pathogenic 31916 rs71180116 4:3076604-3076604 4:3074877-3074877
4 HTT NM_002111.6(HTT):c.52_54(?_25)NT expansion Benign 21303 rs71180116 4:3076604-3076606 4:3074877-3074879
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Expression for Huntington Disease

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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 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 (SH3 domain and ITAM motif) 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 homolog, transcriptional regulator 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.
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Pathways for Huntington Disease

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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
Metastatic brain tumor 1
10.07 MIR29C MIR29A
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GO Terms for Huntington Disease

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

# Name GO ID Score Top Affiliating Genes
1 inclusion body GO:0016234 8.8 PRNP HTT HAP1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.62 MIR132 MIR22 MIR29A MIR29C
2 negative regulation of vascular endothelial cell proliferation GO:1905563 9.49 MIR132 MIR29C
3 positive regulation of vascular endothelial cell proliferation GO:1905564 9.48 MIR132 MIR29A
4 positive regulation of epidermal growth factor receptor signaling pathway GO:0045742 9.46 HAP1 HIP1
5 neurotrophin TRK receptor signaling pathway GO:0048011 9.43 BDNF HAP1
6 regulation of DNA methylation GO:0044030 9.4 MIR29A MIR29C
7 vesicle transport along microtubule GO:0047496 9.37 HAP1 HTT
8 negative regulation of amyloid-beta formation GO:1902430 9.26 HAP1 PRNP
9 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.16 MIR29A MIR29C
10 negative regulation of circulating fibrinogen levels GO:0061754 8.96 MIR29A MIR29C
11 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0031587 8.62 HAP1 HTT

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.13 PRNP HTT HAP1
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 8.92 MIR29C MIR29A MIR22 MIR132
Sources

Sources for Huntington Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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