MCID: HNT016
MIFTS: 70

Huntington Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Huntington Disease

MalaCards integrated aliases for Huntington Disease:

Name: Huntington Disease 57 12 24 53 25 59 75 13 55 44 38 40 73
Huntington's Disease 38 12 76 53 25 54 37 43 15
Huntington's Chorea 12 53 25 29 6
Huntington Chorea 57 24 25 59
Hd 57 12 53 75
Juvenile Huntington Disease 59 73
Huntington Chronic Progressive Hereditary Chorea 25
Juvenile Huntington Chorea 59
Jhd 59

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
huntington disease:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Alleles that contain more than 35 cag repeats are considered hd-causing alleles and confer risk of developing the disease...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Huntington Disease

NINDS : 54 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.

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 back pain, headache and myoclonus. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways are Huntington's disease and Metastatic brain tumor. 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 depressivity and seizures

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)

UniProtKB/Swiss-Prot : 75 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 : 53 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.

MedlinePlus : 43 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 : 25 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.

Wikipedia : 76 Huntington\'s disease (HD), also known as Huntington\'s chorea, is an inherited disorder that results in... 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 72)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 2 35.5 HTT JPH3
2 spinocerebellar ataxia 17 34.0 HAP1 JPH3
3 alzheimer disease 27.8 BDNF HAR1A HAR1B MIR22 MIR29A PRNP
4 huntington disease-like 1 12.4
5 huntington disease-like syndrome 12.4
6 juvenile huntington disease 12.4
7 huntington disease-like 3 12.2
8 huntington disease-like syndrome due to c9orf72 expansions 12.2
9 mcleod syndrome 11.3
10 striatonigral degeneration, infantile 11.1
11 nervous system disease 11.1 BDNF HTT PRNP
12 choreatic disease 10.9 HTT JPH3
13 dystonia 3, torsion, x-linked 10.8
14 dysphagia 10.8
15 swallowing disorders 10.8
16 central nervous system disease 10.5 BDNF HAR1A HTT PRNP
17 relapsing-remitting multiple sclerosis 10.4 BDNF NEAT1 TUG1
18 heroin dependence 10.4 BDNF MEG3
19 aging 10.4
20 esophagus squamous cell carcinoma 10.3 MEG3 TUG1
21 amyotrophic lateral sclerosis 1 10.3 BDNF HTT NEAT1 PRNP
22 nonalcoholic fatty liver disease 10.2 MIR132 MIR22 MIR29C
23 neuronitis 10.2
24 clear cell renal cell carcinoma 9.9 DGCR5 MEG3 TUG1
25 dentatorubral-pallidoluysian atrophy 9.8
26 hydrocephalus, normal-pressure 9.8
27 hydrocephalus 9.8
28 autosomal dominant cerebellar ataxia 9.8
29 depression 9.8
30 osteogenic sarcoma 9.8 MEG3 NEAT1 TUG1
31 muscular dystrophy, duchenne type 9.6 MIR22 MIR29A MIR29C
32 machado-joseph disease 9.6
33 multiple sclerosis 9.6
34 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.6
35 myotonic dystrophy 1 9.6
36 parkinson disease, late-onset 9.6
37 porphyria variegata 9.6
38 lipoid proteinosis of urbach and wiethe 9.6
39 tardive dyskinesia 9.6
40 wilson disease 9.6
41 fragile x syndrome 9.6
42 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.6
43 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.6
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.6
45 trichotillomania 9.6
46 hereditary spastic paraplegia 9.6
47 familial adenomatous polyposis 9.6
48 chronic progressive external ophthalmoplegia 9.6
49 dementia 9.6
50 porphyria 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:

57
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

Human phenotypes related to Huntington Disease:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 Frequent (79-30%) HP:0000716
2 seizures 59 32 Frequent (79-30%) HP:0001250
3 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
4 hyperreflexia 59 32 Frequent (79-30%) HP:0001347
5 chorea 59 32 Frequent (79-30%) HP:0002072
6 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
7 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
8 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000708
9 abnormality of movement 59 32 frequent (33%) Frequent (79-30%) HP:0100022
10 gait ataxia 59 32 Frequent (79-30%) HP:0002066
11 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
12 rigidity 59 32 occasional (7.5%) Frequent (79-30%) HP:0002063
13 dementia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000726
14 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
15 cerebellar atrophy 59 32 Occasional (29-5%) HP:0001272
16 bradykinesia 59 32 Frequent (79-30%) HP:0002067
17 abnormality of eye movement 32 HP:0000496
18 ataxia 59 Frequent (79-30%)
19 irritability 59 Frequent (79-30%)
20 weight loss 59 Frequent (79-30%)
21 myoclonus 59 Occasional (29-5%)
22 dystonia 59 Frequent (79-30%)
23 ventriculomegaly 59 Occasional (29-5%)
24 progressive cerebellar ataxia 59 Occasional (29-5%)
25 cerebellar vermis atrophy 59 Occasional (29-5%)
26 hyperactivity 59 Frequent (79-30%)
27 personality changes 32 HP:0000751
28 neuronal loss in central nervous system 32 HP:0002529
29 gliosis 32 HP:0002171
30 abnormal involuntary eye movements 59 Frequent (79-30%)
31 broad-based gait 59 Frequent (79-30%)
32 abnormality of the cerebral white matter 59 Frequent (79-30%)
33 oral motor hypotonia 59 Frequent (79-30%)
34 neuronal loss in basal ganglia 59 Frequent (79-30%)

UMLS symptoms related to Huntington Disease:


back pain, headache, myoclonus, pain, sciatica, seizures, syncope, tremor, chronic pain, bradykinesia, personality changes, 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 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 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
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 303-98-0 5281915
16
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 57-00-1 586
17
Epigallocatechin gallate Investigational Phase 3,Phase 2 989-51-5 65064
18 Gastrointestinal Agents Phase 3,Phase 1
19 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3,Phase 1
20 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1
21 Antiemetics Phase 3
22 Antipsychotic Agents Phase 3,Early Phase 1
23 Autonomic Agents Phase 3,Phase 2,Phase 1
24 Central Nervous System Depressants Phase 3,Phase 2,Phase 1,Early Phase 1
25 Dopamine Antagonists Phase 3,Early Phase 1
26 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
27 Psychotropic Drugs Phase 3,Phase 2,Phase 1,Early Phase 1
28 Serotonin Agents Phase 3,Phase 2
29 Serotonin Uptake Inhibitors Phase 3,Phase 2
30 Tiapride Hydrochloride Phase 3
31 Tranquilizing Agents Phase 3,Phase 2,Phase 1,Early Phase 1
32 Anticonvulsants Phase 3
33 Neuroprotective Agents Phase 3,Phase 2
34 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
35 Antioxidants Phase 3,Phase 2,Not Applicable
36 Micronutrients Phase 3,Phase 2,Phase 1
37 Trace Elements Phase 3,Phase 2,Phase 1
38 Ubiquinone Phase 3,Phase 2,Phase 1
39 Vitamins Phase 3,Phase 2
40
Serotonin Investigational, Nutraceutical Phase 3,Phase 2 50-67-9 5202
41
Epigallocatechin Experimental, Investigational, Nutraceutical Phase 3,Phase 2 970-74-1 72277
42
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
43
Tetracycline Approved, Vet_approved Phase 1, Phase 2 60-54-8 5353990
44
Bupropion Approved Phase 2 34841-39-9, 34911-55-2 444
45
Amantadine Approved Phase 2 768-94-5 2130
46
Citalopram Approved Phase 2 59729-33-8 2771
47
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
48 Analgesics Phase 2,Phase 1,Not Applicable
49 Analgesics, Non-Narcotic Phase 2,Not Applicable
50 Cannabinoid Receptor Agonists Phase 2

Interventional clinical trials:

(show top 50) (show all 171)
# Name Status NCT ID Phase Drugs
1 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4 Memantine
2 Effect of Tetrabenazine on Stroop Interference in HD Completed NCT01834911 Phase 4 Tetrabenazine withdrawal
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 Pilot Study of Minocycline in Huntington's Disease Completed NCT00277355 Phase 2, Phase 3 minocycline;Matching placebo
6 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
7 A Study of Treatment With Pridopidine (ACR16) in Patients With Huntington's Disease Completed NCT00665223 Phase 3 ACR16;Placebo
8 TREND-HD - A Trial of Ethyl-EPA (Miraxion™) in Treating Mild to Moderate Huntington's Disease Completed NCT00146211 Phase 3 Ethyl-EPA (Miraxion™)
9 A Safety and Efficacy Study of Dimebon in Patients With Huntington Disease Completed NCT00920946 Phase 3 Dimebon
10 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
11 Riluzole in Huntington's Disease Completed NCT00277602 Phase 3 Riluzole
12 First Time Use of SD-809 in Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
13 Alternatives for Reducing Chorea in HD Completed NCT01897896 Phase 3 SD-809
14 Efficacy and Safety of Tetrabenazine in Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
15 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
16 Minocycline Attenuate Postoperative Cognitive Dysfunction and Delirium Recruiting NCT02928692 Phase 3 Minocycline;Placebo
17 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3 coenzyme Q10
18 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
19 An Extension of the HORIZON Protocol Evaluating the Safety of Dimebon (Latrepirdine) in Subjects With Huntington Disease Terminated NCT01085266 Phase 3 Dimebon (latrepirdine)
20 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
21 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
22 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
23 Open-label Extension Study of Pridopidine (ACR16) in the Symptomatic Treatment of Huntington Disease Completed NCT01306929 Phase 2 pridopidine
24 A Study of the Novel Drug Dimebon in Patients With Huntington's Disease Completed NCT00497159 Phase 2 Dimebon
25 A Study Evaluating if Pridopidine is Safe, Efficacious, and Tolerable in Patients With Huntington's Disease Completed NCT02494778 Phase 2 Pridopidine
26 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IONIS-HTTRx in Patients With Early Manifest Huntington's Disease Completed NCT02519036 Phase 1, Phase 2 IONIS HTTRx;Placebo
27 Neuroprotection by Cannabinoids in Huntington's Disease Completed NCT01502046 Phase 2 delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD);Placebo
28 Premanifest Huntington's Disease: Creatine Safety & Tolerability Extension Study Completed NCT01411150 Phase 2 Creatine Monohydrate
29 Premanifest Huntington's Disease Extension Study II: Creatine Safety & Tolerability Completed NCT01411163 Phase 2 Creatine monohydrate
30 Creatine Safety & Tolerability in Huntington's Disease Completed NCT01412151 Phase 2 Creatine monohydrate
31 A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease Completed NCT01458470 Phase 2 Memantine
32 Safety Study of the Novel Drug Dimebon to Treat Patients With Huntington's Disease Completed NCT00387270 Phase 1, Phase 2 Dimebon
33 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
34 Effects of EGCG (Epigallocatechin Gallate) in Huntington's Disease (ETON-Study) Completed NCT01357681 Phase 2 (2)-epigallocatechin-3-gallate (EGCG);Placebo
35 Effect of PBT2 in Patients With Early to Mid Stage Huntington Disease Completed NCT01590888 Phase 2 PBT2;PBT2;Placebo
36 Creatine Therapy for Huntington's Disease Completed NCT00026988 Phase 1, Phase 2 Creatine
37 Safety and Tolerability Study of Phenylbutyrate in Huntington's Disease (PHEND-HD) Completed NCT00212316 Phase 2 sodium phenylbutyrate
38 Study in PRE-manifest Huntington's Disease of Coenzyme Q10 (UbiquinonE) Leading to Preventive Trials (PREQUEL) Completed NCT00920699 Phase 2 CoQ10
39 Effects of Lithium and Divalproex`on Brain-Derived Neurotrophic Factor in Huntington's Disease Completed NCT00095355 Phase 2 Lithium;Divalproex
40 Minocycline in Patients With Huntington's Disease Completed NCT00029874 Phase 1, Phase 2 Minocycline
41 MIG-HD: Multicentric Intracerebral Grafting in Huntington's Disease Completed NCT00190450 Phase 2
42 Apathy Cure Through Bupropion in Huntington's Disease Completed NCT01914965 Phase 2 Bupropion;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 Atomoxetine and Huntington's Disease Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
45 A Phase II Safety and Tolerability Study With SEN0014196 Completed NCT01521585 Phase 2 SEN0014196;SEN0014196;Placebo
46 Treatment of Huntington's Chorea With Amantadine Completed NCT00001930 Phase 2 Amantadine
47 Citalopram to Enhance Cognition in HD Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
48 Creatine Safety and Tolerability in Premanifest HD: PRECREST Completed NCT00592995 Phase 2 Creatine monohydrate;Placebo
49 Clinical Trial of Creatine in Amyotrophic Lateral Sclerosis Completed NCT00005766 Phase 2 Creatinine
50 Study in Huntington's Disease Patients Who Participated in Prior Investigational Studies of ISIS 443139 Recruiting NCT03342053 Phase 2 IONIS HTTRx

Search NIH Clinical Center for Huntington Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 HTT

Anatomical Context for Huntington Disease

MalaCards organs/tissues related to Huntington Disease:

41
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 517)
# Title Authors Year
1
A Thorough QT/QTc Study With Laquinimod, a Novel Immunomodulator in Development for Multiple Sclerosis and Huntington Disease. ( 29786964 )
2018
2
Alteration in Fluidity of Cell Plasma Membrane in Huntington Disease Revealed by Spectral Phasor Analysis. ( 29335600 )
2018
3
Agreement between clinician-rated versus patient-reported outcomes in Huntington disease. ( 29687215 )
2018
4
Gradual Phenotype Development in Huntington Disease Transgenic Minipig Model at 24 Months of Age. ( 29870995 )
2018
5
HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo. ( 29121340 )
2018
6
Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy. ( 29315899 )
2018
7
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease. ( 29342448 )
2018
8
Huntington disease. ( 29325616 )
2018
9
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
10
Calpastatin ablation aggravates the molecular phenotype in cell and animal models of Huntington disease. ( 29355642 )
2018
11
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. ( 29801887 )
2018
12
Genetic Rodent Models of Huntington Disease. ( 29427097 )
2018
13
Neurology outreach clinic for Huntington disease in Peru: Lessons for neurodegenerative diseases. ( 29980636 )
2018
14
Understanding patient-reported outcome measures in Huntington disease: at what point is cognitive impairment related to poor measurement reliability? ( 29909483 )
2018
15
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease. ( 29802276 )
2018
16
Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease. ( 29967967 )
2018
17
Objective assessment of gait and posture in premanifest and manifest Huntington disease - A multi-center study. ( 29660633 )
2018
18
Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease. ( 29945611 )
2018
19
Evaluating the current state of the art of Huntington disease research: a scientometric analysis. ( 29340519 )
2018
20
Pearls &amp;amp; Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy. ( 29335306 )
2018
21
Behavioral symptoms in premanifest Huntington disease correlate with reduced frontal CB1R levels. ( 29934407 )
2018
22
Neurofilament light protein in blood predicts regional atrophy in Huntington disease. ( 29367444 )
2018
23
Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysis. ( 29926145 )
2018
24
Evaluating depression and suicidality in tetrabenazine users with Huntington disease. ( 29925548 )
2018
25
Physician perceptions of pharmacologic treatment options for chorea associated with Huntington disease in the United States. ( 29383957 )
2018
26
CSF microRNA in patients with Huntington disease. ( 29282335 )
2018
27
ANN and Fuzzy Logic Based Model to Evaluate Huntington Disease Symptoms. ( 29713439 )
2018
28
Longitudinal Anthropometric Assessment of Rhesus Macaque (<i>Macaca mulatta</i>) Model of Huntington Disease. ( 29663942 )
2018
29
Overlap between age-at-onset and disease-progression determinants in Huntington disease. ( 29743208 )
2018
30
Sertoli Cells Avert Neuroinflammation-Induced Cell Death and Improve Motor Function and Striatal Atrophy in Rat Model of Huntington Disease. ( 29680983 )
2018
31
Understanding How Chorea Affects Health-Related Quality of Life in Huntington Disease: An Online Survey of Patients and Caregivers in the United States. ( 29750428 )
2018
32
MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study. ( 29282329 )
2018
33
Ameliorating the age at onset and disease progression in Huntington disease. ( 29743206 )
2018
34
The Alteration of Emotion Regulation Precedes the Deficits in Interval Timing in the BACHD Rat Model for Huntington Disease. ( 29867384 )
2018
35
Reduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease. ( 29203806 )
2017
36
Feasibility of computerized working memory training in individuals with Huntington disease. ( 28453532 )
2017
37
The diagnosis and natural history of Huntington disease. ( 28947126 )
2017
38
Huntington disease. ( 28221321 )
2017
39
Is mitochondrial oxidative metabolism the right therapy target in early Huntington disease? ( 27913697 )
2017
40
Early pridopidine treatment improves behavioral and transcriptional deficits in YAC128 Huntington disease mice. ( 29212949 )
2017
41
Structural imaging in premanifest and manifest Huntington disease. ( 28947121 )
2017
42
Cognitive and behavioral changes in Huntington disease before diagnosis. ( 28947127 )
2017
43
Functional imaging in Huntington disease. ( 28947122 )
2017
44
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent StemA Cells. ( 28238795 )
2017
45
Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease. ( 28265459 )
2017
46
The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory. ( 28045968 )
2017
47
Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease. ( 28175299 )
2017
48
Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure? ( 28396959 )
2017
49
Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. ( 29258585 )
2017
50
A liminal stage after predictive testing for Huntington disease. ( 28087720 )
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): c.53_55[(41_?)] (p.Gln40(41_?)) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076660
2 HTT NM_002111.6(HTT) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076604
3 HTT NM_002111.6(HTT) NT expansion Pathogenic GRCh38 Chromosome 4, 3074877: 3074877
4 HTT NM_002111.6(HTT): c.52CAG(36_39) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076604
5 HTT NM_002111.6(HTT): c.52CAG(36_39) NT expansion Pathogenic GRCh38 Chromosome 4, 3074877: 3074877

Expression for Huntington Disease

LifeMap Discovery
Genes differentially expressed in tissues of Huntington Disease patients vs. healthy controls: 35 (show all 11)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ZNF267 zinc finger protein 267 Blood + 3.44 0.000
2 CHMP5 charged multivesicular body protein 5 Blood + 3.36 0.000
3 C12orf29 chromosome 12 open reading frame 29 Blood + 3.24 0.000
4 ATF1 activating transcription factor 1 Blood + 3.23 0.000
5 PIKFYVE phosphoinositide kinase, FYVE 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:

37
# Name Kegg Source Accession
1 Huntington's disease hsa05016

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

# Super pathways Score Top Affiliating Genes
1 10.07 MIR29A MIR29C

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 8.8 HAP1 HTT PRNP

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.67 HIP1 MIR132 MIR29A
2 gene silencing by miRNA GO:0035195 9.56 MIR132 MIR22 MIR29A MIR29C
3 positive regulation of epidermal growth factor receptor signaling pathway GO:0045742 9.48 HAP1 HIP1
4 positive regulation of vascular endothelial cell proliferation GO:1905564 9.46 MIR132 MIR29A
5 regulation of DNA methylation GO:0044030 9.43 MIR29A MIR29C
6 vesicle transport along microtubule GO:0047496 9.4 HAP1 HTT
7 locomotion GO:0040011 9.37 BDNF JPH3
8 negative regulation of amyloid-beta formation GO:1902430 9.32 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 HAP1 HTT PRNP
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 8.92 MIR132 MIR22 MIR29A MIR29C

Sources for Huntington Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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