MCID: HNT016
MIFTS: 78

Huntington Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Huntington Disease

MalaCards integrated aliases for Huntington Disease:

Name: Huntington Disease 53 12 23 49 24 55 71 13 51 41 37 69
Huntington's Disease 37 12 72 49 24 50 36 40 14
Huntington's Chorea 12 49 24 28
Huntington Chorea 53 23 24 55
Hd 53 12 49 71
Juvenile Huntington Disease 55 69
Huntington Chronic Progressive Hereditary Chorea 24
Juvenile Huntington Chorea 55
Jhd 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

23
Penetrance Alleles that contain more than 35 cag repeats are considered hd-causing alleles and confer risk of developing the disease...

Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Huntington Disease

NINDS : 50 Huntington's disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas. 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.  Symptoms of juvenile HD differ somewhat from adult onset HD and include unsteadiness, rigidity, difficulty at school, 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. If a child does not inherit the HD gene, he or she will not develop the disease and generally cannot pass it to subsequent generations. There is a small risk that someone who has a parent with the mutated gene but who did not inherit the HD gene may  pass a possibly harmful genetic sequence to her/his children. A person who inherits the HD gene will eventually develop the disease. A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose HD.

MalaCards based summary : Huntington Disease, also known as huntington's disease, is related to huntington disease-like 2 and spinocerebellar ataxia 17, and has symptoms including spasticity, eeg abnormality and developmental regression. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways are Huntington's disease and PI3K-Akt signaling pathway. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include Brain, brain and testes, and related phenotypes are behavior/neurological and growth/size/body region

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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. Last updated: 7/8/2015

MedlinePlus : 40 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

Genetics Home Reference : 24 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

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.

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 63)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 2 34.4 HTT JPH3
2 spinocerebellar ataxia 17 33.7 HAP1 JPH3 TBP
3 choreatic disease 31.2 HTT JPH3 TBP
4 dentatorubral-pallidoluysian atrophy 30.4 HTT JPH3 TBP
5 autosomal dominant cerebellar ataxia 29.9 HTT PRNP TBP
6 parkinson disease, late-onset 29.8 BDNF CALB1 CASP3 GRIN2B HTT TBP
7 huntington disease-like 1 12.4
8 juvenile huntington disease 12.4
9 huntington disease-like syndrome 12.3
10 huntington disease-like 3 12.2
11 huntington disease-like syndrome due to c9orf72 expansions 12.2
12 mcleod syndrome 11.3
13 striatonigral degeneration, infantile 11.1
14 dystonia 3, torsion, x-linked 10.8
15 dysphagia 10.8
16 swallowing disorders 10.8
17 nervous system disease 10.6 BDNF CASP3 HTT PRNP
18 ocular dominance 10.5 BDNF CREB1 GRIN2B
19 toxic encephalopathy 10.5 BDNF CASP3 GRIN2B PRNP
20 fetal alcohol spectrum disorder 10.5 BDNF CASP3 GRIN2B
21 status epilepticus 10.5 BDNF CALB1 CASP3 GRIN2B
22 peripheral nervous system neoplasm 10.5 BDNF CASP3 CASP8
23 spinocerebellar ataxia 12 10.5 CREB1 PRNP TBP
24 autonomic nervous system neoplasm 10.5 BDNF CASP3 CASP8
25 temporal lobe epilepsy 10.4 BDNF CALB1 GRIN2B
26 aging 10.4
27 neuroblastoma 10.3 BDNF CASP3 CASP8 CREB1 PRNP
28 amyotrophic lateral sclerosis 1 10.3 BDNF CALB1 CASP3 CREBBP HTT PRNP
29 chorea, childhood-onset, with psychomotor retardation 10.2
30 neuronitis 10.2
31 ataxia and polyneuropathy, adult-onset 9.9
32 alzheimer disease 9.8
33 hydrocephalus, normal-pressure 9.8
34 hydrocephalus 9.8
35 machado-joseph disease 9.6
36 blood group--diego system 9.6
37 blood group--rhesus system e polypeptide 9.6
38 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.6
39 myotonic dystrophy 1 9.6
40 porphyria variegata 9.6
41 lipoid proteinosis of urbach and wiethe 9.6
42 tardive dyskinesia 9.6
43 wilson disease 9.6
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.6
45 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.6
46 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.6
47 trichotillomania 9.6
48 hereditary spastic paraplegia 9.6
49 familial adenomatous polyposis 9.6
50 chronic progressive external ophthalmoplegia 9.6

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
bradykinesia
hyperreflexia
chorea
dementia
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

Human phenotypes related to Huntington Disease:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
2 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
3 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
4 behavioral abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000708
5 abnormality of movement 55 31 frequent (33%) Frequent (79-30%) HP:0100022
6 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
7 dementia 55 31 frequent (33%) Frequent (79-30%) HP:0000726
8 abnormality of the voice 55 31 frequent (33%) Frequent (79-30%) HP:0001608
9 seizures 31 HP:0001250
10 bradykinesia 31 HP:0002067
11 personality changes 31 HP:0000751
12 gait ataxia 31 HP:0002066
13 abnormality of eye movement 31 HP:0000496
14 hyperreflexia 31 HP:0001347
15 chorea 31 HP:0002072
16 rigidity 31 occasional (7.5%) HP:0002063
17 cerebellar atrophy 31 HP:0001272
18 neuronal loss in central nervous system 31 HP:0002529
19 gliosis 31 HP:0002171
20 depressivity 31 HP:0000716

UMLS symptoms related to Huntington Disease:


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

MGI Mouse Phenotypes related to Huntington Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 BDNF CALB1 CASP3 CREB1 CREBBP GRIN2B
2 growth/size/body region MP:0005378 10.27 CREBBP GRIN2B HAP1 HIP1 HTT IFT57
3 cellular MP:0005384 10.23 BDNF CASP3 CASP8 CREB1 CREBBP HAP1
4 homeostasis/metabolism MP:0005376 10.17 TGM2 BDNF CASP3 CASP8 CREB1 CREBBP
5 mortality/aging MP:0010768 10.16 HTT IFT57 JPH3 PRNP SETDB1 SLC2A3
6 embryo MP:0005380 10.09 CASP8 CREB1 CREBBP HAP1 HTT IFT57
7 nervous system MP:0003631 10.09 BDNF CALB1 CASP3 CASP8 CREB1 CREBBP
8 endocrine/exocrine gland MP:0005379 10.06 PRNP TGM2 BDNF CASP3 CASP8 CREB1
9 no phenotypic analysis MP:0003012 9.5 PRNP TBP TGM2 BDNF CASP3 GRIN2B
10 normal MP:0002873 9.23 BDNF CALB1 CREB1 CREBBP HIP1 HTT

Drugs & Therapeutics for Huntington Disease

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

(show top 50) (show all 139)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
3
Tetrabenazine Approved, Investigational Phase 4,Phase 3 58-46-8 6018
4 Antiparkinson Agents Phase 4,Phase 2
5 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
6 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
7 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Adrenergic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
10 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
11
Cysteamine Approved, Investigational Phase 2, Phase 3 60-23-1 6058
12
Minocycline Approved, Investigational Phase 2, Phase 3, Phase 1 10118-90-8 5281021
13
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
14
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
15
Resveratrol Approved, Experimental, Investigational Phase 3 501-36-0 445154
16
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 303-98-0 5281915
17
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 57-00-1 586
18
Epigallocatechin gallate Investigational Phase 3,Phase 2 989-51-5 65064
19 Central Nervous System Depressants Phase 3,Phase 2,Phase 1,Early Phase 1
20 Gastrointestinal Agents Phase 3,Phase 1
21 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
22 Analgesics Phase 3,Phase 2,Phase 1
23 Anti-Bacterial Agents Phase 2, Phase 3, Phase 1
24 Anti-Infective Agents Phase 2, Phase 3, Phase 1
25 Antiemetics Phase 3
26 Antipsychotic Agents Phase 3,Early Phase 1
27 Autonomic Agents Phase 3,Phase 2,Phase 1
28 Dopamine Antagonists Phase 3,Early Phase 1
29 Psychotropic Drugs Phase 3,Phase 2,Phase 1,Early Phase 1
30
Serotonin Phase 3,Phase 2 50-67-9 5202
31 Serotonin Agents Phase 3,Phase 2
32 Serotonin Uptake Inhibitors Phase 3,Phase 2
33 Tiapride Hydrochloride Phase 3
34 Tranquilizing Agents Phase 3,Phase 2,Phase 1,Early Phase 1
35 Anticonvulsants Phase 3
36 Neuroprotective Agents Phase 3,Phase 2
37 Protective Agents Phase 3,Phase 2,Phase 1
38 Antioxidants Phase 3,Phase 2
39 Analgesics, Non-Narcotic Phase 3,Phase 2
40 Micronutrients Phase 3,Phase 2,Phase 1
41 Trace Elements Phase 3,Phase 2,Phase 1
42 Ubiquinone Phase 3,Phase 2,Phase 1
43 Vitamins Phase 3,Phase 2
44 Anti-Inflammatory Agents Phase 3
45 Anti-Inflammatory Agents, Non-Steroidal Phase 3
46 Antineoplastic Agents, Phytogenic Phase 3
47 Antirheumatic Agents Phase 3
48 Platelet Aggregation Inhibitors Phase 3
49
Epigallocatechin Experimental, Investigational, Nutraceutical Phase 3,Phase 2 970-74-1 72277
50
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078 2978

Interventional clinical trials:

(show top 50) (show all 165)

# Name Status NCT ID Phase Drugs
1 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4 Memantine
2 A Pilot Study Assessing Impulsivity in Patients With Huntington's Disease on Xenazine (Tetrabenazine) Recruiting NCT02509793 Phase 4 Tetrabenazine
3 Effect of Tetrabenazine on Stroop Interference in HD Recruiting NCT01834911 Phase 4 Tetrabenazine withdrawal
4 Multicentric Trial of the Treatment of Huntington's Disease by Cysteamine (RP103) Unknown status NCT02101957 Phase 2, Phase 3 RP103;Placebo
5 A Study of Pridopidine (ACR16) for the Treatment of Patients With Huntington's Disease Completed NCT00724048 Phase 2, Phase 3 ACR16 10 mg;ACR16 22.5 mg;ACR16 45 mg
6 A Study of Treatment With Pridopidine (ACR16) in Patients With Huntington's Disease Completed NCT00665223 Phase 3 ACR16;Placebo
7 Family Health After Predictive Huntington Disease (HD) Testing Completed NCT00075140 Phase 3
8 Pilot Study of Minocycline in Huntington's Disease Completed NCT00277355 Phase 2, Phase 3 minocycline;Matching placebo
9 TREND-HD - A Trial of Ethyl-EPA (Miraxion™) in Treating Mild to Moderate Huntington's Disease Completed NCT00146211 Phase 3 Ethyl-EPA (Miraxion™)
10 A Safety and Efficacy Study of Dimebon in Patients With Huntington Disease Completed NCT00920946 Phase 3 Dimebon
11 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
12 Riluzole in Huntington's Disease Completed NCT00277602 Phase 3 Riluzole
13 First Time Use of SD-809 in Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
14 Alternatives for Reducing Chorea in HD Completed NCT01897896 Phase 3 SD-809
15 Efficacy and Safety of Tetrabenazine in Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
16 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
17 Resveratrol and Huntington Disease Recruiting NCT02336633 Phase 3
18 Minocycline Attenuate Postoperative Cognitive Dysfunction and Delirium Recruiting NCT02928692 Phase 3 Minocycline;Placebo
19 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3 coenzyme Q10
20 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
21 An Extension of the HORIZON Protocol Evaluating the Safety of Dimebon (Latrepirdine) in Subjects With Huntington Disease Terminated NCT01085266 Phase 3 Dimebon (latrepirdine)
22 Safety and Efficacy of Bone Marrow Derived MNCs for Treatment of Cells for the Treatment of Hunting Tons Chorea. Unknown status NCT01834053 Phase 1, Phase 2
23 A Phase 2, to Evaluating the Safety and Efficacy of Pridopidine Versus Placebo for Symptomatic Treatment in Patients With Huntington's Disease Completed NCT02006472 Phase 2 Pridopidine
24 A Study of the Novel Drug Dimebon in Patients With Huntington's Disease Completed NCT00497159 Phase 2 Dimebon
25 Randomized, Placebo Controlled Study Of The Efficacy And Safety Of PF-02545920 In Subjects With Huntington's Disease Completed NCT02197130 Phase 2 PF-02545920;PF-02545920
26 Neuroprotection by Cannabinoids in Huntington's Disease Completed NCT01502046 Phase 2 delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD);Placebo
27 A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease Completed NCT01458470 Phase 2 Memantine
28 Safety Study of the Novel Drug Dimebon to Treat Patients With Huntington's Disease Completed NCT00387270 Phase 1, Phase 2 Dimebon
29 Premanifest Huntington's Disease: Creatine Safety & Tolerability Extension Study Completed NCT01411150 Phase 2 Creatine Monohydrate
30 Premanifest Huntington's Disease Extension Study II: Creatine Safety & Tolerability Completed NCT01411163 Phase 2 Creatine monohydrate
31 Creatine Safety & Tolerability in Huntington's Disease Completed NCT01412151 Phase 2 Creatine monohydrate
32 Study Evaluating The Safety, Tolerability And Brain Function Of 2 Doses Of PF-0254920 In Subjects With Early Huntington's Disease Completed NCT01806896 Phase 2 PF-02545920;Placebo;PF-02545920;Placebo
33 Effects of EGCG (Epigallocatechin Gallate) in Huntington's Disease (ETON-Study) Completed NCT01357681 Phase 2 (2)-epigallocatechin-3-gallate (EGCG);Placebo
34 Creatine Therapy for Huntington's Disease Completed NCT00026988 Phase 1, Phase 2 Creatine
35 Effect of PBT2 in Patients With Early to Mid Stage Huntington Disease Completed NCT01590888 Phase 2 PBT2;PBT2;Placebo
36 Safety and Tolerability Study of Phenylbutyrate in Huntington's Disease (PHEND-HD) Completed NCT00212316 Phase 2 sodium phenylbutyrate
37 Study in PRE-manifest Huntington's Disease of Coenzyme Q10 (UbiquinonE) Leading to Preventive Trials (PREQUEL) Completed NCT00920699 Phase 2 CoQ10
38 Effects of Lithium and Divalproex`on Brain-Derived Neurotrophic Factor in Huntington's Disease Completed NCT00095355 Phase 2 Lithium;Divalproex
39 Minocycline in Patients With Huntington's Disease Completed NCT00029874 Phase 1, Phase 2 Minocycline
40 MIG-HD: Multicentric Intracerebral Grafting in Huntington's Disease Completed NCT00190450 Phase 2
41 Apathy Cure Through Bupropion in Huntington's Disease Completed NCT01914965 Phase 2 Bupropion;Placebo
42 Atomoxetine and Huntington's Disease Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
43 Proof of Concept of an Anaplerotic Study Using Brain Phosphorus Magnetic Resonance Spectroscopy in Huntington Disease Completed NCT01882062 Phase 2 Triheptanoin 1g/kg/day
44 A Phase II Safety and Tolerability Study With SEN0014196 Completed NCT01521585 Phase 2 SEN0014196;SEN0014196;Placebo
45 Treatment of Huntington's Chorea With Amantadine Completed NCT00001930 Phase 2 Amantadine
46 Citalopram to Enhance Cognition in HD Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
47 Creatine Safety and Tolerability in Premanifest HD: PRECREST Completed NCT00592995 Phase 2 Creatine monohydrate;Placebo
48 Clinical Trial of Creatine in Amyotrophic Lateral Sclerosis Completed NCT00005766 Phase 2 Creatinine
49 Safety and Tolerability of WVE-120102 in Patients With Huntington's Disease Recruiting NCT03225846 Phase 1, Phase 2 WVE-120102;Placebo
50 Safety and Tolerability of WVE-120101 in Patients With Huntington's Disease Recruiting NCT03225833 Phase 1, Phase 2 WVE-120101;Placebo

Search NIH Clinical Center for Huntington Disease

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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's Chorea 28 HTT

Anatomical Context for Huntington Disease

MalaCards organs/tissues related to Huntington Disease:

38
Brain, Testes, Eye, Globus Pallidus, Skin, Liver, Bone
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 396)
# Title Authors Year
1
Genetic Rodent Models of Huntington Disease. ( 29427097 )
2018
2
Physician perceptions of pharmacologic treatment options for chorea associated with Huntington disease in the United States. ( 29383957 )
2018
3
Neurofilament light protein in blood predicts regional atrophy in Huntington disease. ( 29367444 )
2018
4
Evaluating the current state of the art of Huntington disease research: a scientometric analysis. ( 29340519 )
2018
5
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease. ( 29342448 )
2018
6
Huntington disease. ( 29325616 )
2018
7
Alteration in Fluidity of Cell Plasma Membrane in Huntington Disease Revealed by Spectral Phasor Analysis. ( 29335600 )
2018
8
Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy. ( 29315899 )
2018
9
Pearls & Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy. ( 29335306 )
2018
10
MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study. ( 29282329 )
2018
11
CSF microRNA in patients with Huntington disease. ( 29282335 )
2018
12
Early Alterations in Operant Performance and Prominent Huntingtin Aggregation in a Congenic F344 Rat Line of the Classical CAG<sub>n51trunc</sub>Model of Huntington Disease. ( 29422836 )
2018
13
Calpastatin ablation aggravates the molecular phenotype in cell and animal models of Huntington disease. ( 29355642 )
2018
14
The role of rehabilitation therapy in Huntington disease. ( 28947114 )
2017
15
Contemporary health care for Huntington disease. ( 28947115 )
2017
16
Molecular analysis and prevalence of Huntington disease in northwestern Iran ( 29306253 )
2017
17
Cognitive assessment in Huntington disease clinical drug trials. ( 28947120 )
2017
18
Mechanisms underlying neurodegeneration in Huntington disease: applications to novel disease-modifying therapies. ( 28947113 )
2017
19
Huntington Disease: Linking Pathogenesis to the Development of Experimental Therapeutics. ( 28265888 )
2017
20
Huntington disease. ( 28221321 )
2017
21
Metoprolol-pridopidine drug-drug interaction and food effect assessments of pridopidine, a new drug for treatment of Huntington Disease. ( 28449367 )
2017
22
A Systematic Review of the Huntington Disease-Like 2 Phenotype. ( 28339400 )
2017
23
Mutant huntingtin protein expression and blood-spinal cord barrier dysfunction in huntington disease. ( 29171910 )
2017
24
Evaluating cognition in individuals with Huntington disease: Neuro-QoL cognitive functioning measures. ( 29222609 )
2017
25
Making a measurable difference in advanced Huntington disease care. ( 28947117 )
2017
26
Targeting the equilibrative nucleoside transporter ENT1 in Huntington disease. ( 28179589 )
2017
27
Feasibility of computerized working memory training in individuals with Huntington disease. ( 28453532 )
2017
28
The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory. ( 28045968 )
2017
29
Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease. ( 28265459 )
2017
30
Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure? ( 28396959 )
2017
31
A liminal stage after predictive testing for Huntington disease. ( 28087720 )
2017
32
Genetics of Huntington disease. ( 28947123 )
2017
33
The impact of Huntington disease on young people. ( 28947116 )
2017
34
New symptomatic therapies for Huntington disease. ( 28947118 )
2017
35
Physical Activity Self-Management and Coaching Compared to Social Interaction in Huntington Disease: Results From the ENGAGE-HD Randomized, Controlled, Pilot Feasibility Trial. ( 28371942 )
2017
36
Epidemiology of Huntington disease. ( 28947124 )
2017
37
Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells. ( 28497201 )
2017
38
Medical treatment of behavioral manifestations of Huntington disease. ( 28947111 )
2017
39
Inclusions of R6/2 Mice Are Not Amyloid and Differ Structurally from Those of Huntington Disease Brain. ( 28398721 )
2017
40
Motor outcome measures in Huntington disease clinical trials. ( 28947119 )
2017
41
Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease. ( 28175299 )
2017
42
Putaminal Hypometabolism Exceeding Caudate Abnormalities on 18F-FDG PET in Huntington Disease. ( 28418951 )
2017
43
Cerebellar Gray Matter Alterations in Huntington Disease: A Voxel-Based Morphometry Study. ( 28528357 )
2017
44
Is mitochondrial oxidative metabolism the right therapy target in early Huntington disease? ( 27913697 )
2017
45
Exercise effects in Huntington disease. ( 27747393 )
2017
46
Medical management of motor manifestations of Huntington disease. ( 28947112 )
2017
47
Understanding the need for assistance with survey completion in people with Huntington disease. ( 29214414 )
2017
48
Structural imaging in premanifest and manifest Huntington disease. ( 28947121 )
2017
49
Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts. ( 28508341 )
2017
50
Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. ( 29258585 )
2017

Variations for Huntington Disease

ClinVar genetic disease variations for Huntington Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HTT NM_002111.6(HTT) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076604
2 HTT NM_002111.6(HTT): c.52CAG(36_39) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076604
3 HTT NM_002111.6(HTT): c.53_55[(41_?)] (p.Gln40(41_?)) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076660

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 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.

Pathways for Huntington Disease

Pathways related to Huntington Disease according to KEGG:

36
# Name Kegg Source Accession
1 Huntington's disease hsa05016

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 BDNF CASP3 CASP8 CREB1 CREBBP TBP
2
Show member pathways
12.6 BDNF CASP3 CASP8 CREB1 CREBBP GRIN2B
3
Show member pathways
12.41 CASP3 CASP8 CREBBP GRIN2B HAP1 HIP1
4
Show member pathways
12.3 CASP3 CASP8 CREB1 CREBBP
5 12.3 CALB1 CREB1 GRIN2B HTT PRNP
6
Show member pathways
12.1 BDNF CREB1 CREBBP GRIN2B
7 12.03 CASP3 CASP8 CREB1 CREBBP
8 11.96 CASP3 CASP8 CREB1 CREBBP TBP
9 11.92 BDNF CASP3 CREB1 CREBBP
10 11.78 BDNF CASP3 CREB1 GRIN2B
11 11.76 CASP3 CASP8 CREB1
12 11.61 CREB1 CREBBP TBP
13 11.34 CREB1 CREBBP SLC2A3
14 10.51 CREBBP TBP
15 10.48 BDNF CASP3 CREB1

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 axon GO:0030424 9.46 CALB1 CREB1 HAP1 HTT
2 death-inducing signaling complex GO:0031264 8.96 CASP3 CASP8
3 inclusion body GO:0016234 8.8 HAP1 HTT PRNP

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.77 CASP8 CREB1 CREBBP HIP1 IFT57
2 response to ethanol GO:0045471 9.71 CASP8 GRIN2B SETDB1
3 apoptotic signaling pathway GO:0097190 9.65 CASP3 CASP8 HIP1
4 protein destabilization GO:0031648 9.58 CREBBP HTT PRNP
5 neurotrophin TRK receptor signaling pathway GO:0048011 9.52 CASP3 HAP1
6 vesicle transport along microtubule GO:0047496 9.51 HAP1 HTT
7 negative regulation of activated T cell proliferation GO:0046007 9.49 CASP3 PRNP
8 negative regulation of amyloid-beta formation GO:1902430 9.46 HAP1 PRNP
9 response to cobalt ion GO:0032025 9.43 CASP3 CASP8
10 positive regulation of neuron death GO:1901216 9.33 CASP8 GRIN2B PRNP
11 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0031587 9.32 HAP1 HTT
12 negative regulation of dendritic spine maintenance GO:1902951 9.26 GRIN2B PRNP
13 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP3 CASP8 HIP1 IFT57
14 learning or memory GO:0007611 8.92 CALB1 CASP3 GRIN2B PRNP

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.56 CREB1 CREBBP HTT TBP
2 death receptor binding GO:0005123 9.16 CASP3 CASP8
3 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 8.96 CASP3 CASP8
4 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 8.62 CASP3 CASP8

Sources for Huntington Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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