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HD
MCID: HNT016
MIFTS: 73

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 57 12 24 53 25 59 75 37 13 55 44 38 40 73
Huntington's Disease 38 12 76 53 25 54 43 15
Huntington's Chorea 12 53 25 29 6 15
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 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: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM 57 143100
Disease Ontology 12 DOID:12858
ICD10 33 G10
ICD9CM 35 333.4
MeSH 44 D006816
NCIt 50 C82342
SNOMED-CT 68 58756001
MESH via Orphanet 45 D006816
UMLS via Orphanet 74 C0020179 C0751208
ICD10 via Orphanet 34 G10
MedGen 42 C0020179
KEGG 37 H00059
Sources

Summaries for Huntington Disease

About this section
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 huntington disease-like 1, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways are Huntington disease and Metastatic brain tumor. The drugs 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

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.

Genetics Home Reference : 25 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

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.

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)

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

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.

Wikipedia : 76 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 162)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 2 34.6 JPH3 HTT
2 huntington disease-like 1 34.4 PRNP JPH3
3 spinocerebellar ataxia 17 33.5 JPH3 HAP1
4 choreatic disease 30.5 JPH3 HTT
5 amyotrophic lateral sclerosis 1 30.1 PRNP NEAT1 HTT BDNF
6 alzheimer disease 29.5 PRNP MIR29A MIR22 HAR1B HAR1A BDNF
7 schizophrenia 29.0 MIR29C MIR29A HAR1B HAR1A BDNF-AS BDNF
8 juvenile huntington disease 12.5
9 huntington disease-like syndrome 12.5
10 huntington disease-like 3 12.4
11 huntington disease-like syndrome due to c9orf72 expansions 12.3
12 mcleod syndrome 11.4
13 hirschsprung disease 1 11.3
14 striatonigral degeneration, infantile 11.2
15 hemidystonia-hemiatrophy syndrome 11.1
16 leprosy 3 11.0
17 chromosome 17q11.2 deletion syndrome 11.0
18 hansen's disease 11.0
19 dystonia 3, torsion, x-linked 11.0
20 swallowing disorders 11.0
21 dysphagia 11.0
22 nervous system disease 10.4 PRNP HTT BDNF
23 central nervous system disease 10.2 PRNP HTT HAR1A BDNF
24 depression 10.2
25 relapsing-remitting multiple sclerosis 10.2 TUG1 NEAT1 BDNF
26 childhood type dermatomyositis 10.1
27 heroin dependence 10.1 MEG3 BDNF
28 malaria 10.1
29 b cell deficiency 10.1
30 attention deficit-hyperactivity disorder 10.0
31 autism 10.0
32 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.0
33 nonalcoholic fatty liver disease 10.0 MIR29C MIR22 MIR132
34 central nervous system lymphoma 10.0
35 ischemia 10.0
36 primary central nervous system lymphoma 10.0
37 aging 10.0
38 rem sleep behavior disorder 10.0
39 motor neuron disease 10.0
40 encephalitis 10.0
41 osteogenic sarcoma 9.9 TUG1 NEAT1 MEG3
42 breast cancer 9.9
43 lymphoma, hodgkin, classic 9.9
44 polycythemia vera 9.9
45 end stage renal failure 9.9
46 hepatitis 9.9
47 leukemia 9.9
48 hyperphosphatemia 9.9
49 lymphoma 9.9
50 conduct disorder 9.9

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

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:


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 144)
# 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 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
5 Antiparkinson Agents Phase 4,Phase 2
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
7 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
8 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
10 Adrenergic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
11
Cysteamine Approved, Investigational Phase 2, Phase 3 60-23-1 6058
12
Minocycline Approved, Investigational Phase 3,Phase 2,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 Experimental, Investigational Phase 3,Phase 2 970-74-1 72277
18
Epigallocatechin gallate Investigational Phase 3,Phase 2 989-51-5 65064
19 Anti-Infective Agents Phase 3,Phase 2,Phase 1
20 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
21 Gastrointestinal Agents Phase 3,Phase 1
22 Ubiquinone Phase 3,Phase 2,Phase 1
23 Vitamins Phase 3,Phase 2
24 Micronutrients Phase 3,Phase 2,Phase 1
25 Trace Elements Phase 3,Phase 2,Phase 1
26 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
27 Central Nervous System Depressants Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Serotonin Agents Phase 3,Phase 2
29 Antiemetics Phase 3
30 Psychotropic Drugs Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
31 Tiapride Hydrochloride Phase 3
32 Dopamine Antagonists Phase 3,Early Phase 1
33 Antipsychotic Agents Phase 3,Early Phase 1,Not Applicable
34 Autonomic Agents Phase 3,Phase 2,Phase 1
35 Tranquilizing Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
36 Serotonin Uptake Inhibitors Phase 3,Phase 2
37 Anticonvulsants Phase 3
38 Neuroprotective Agents Phase 3,Phase 2
39 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
40 Antioxidants Phase 3,Phase 2,Not Applicable
41
Serotonin Investigational, Nutraceutical Phase 3,Phase 2 50-67-9 5202
42
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
43
Fenofibrate Approved Phase 2 49562-28-9 3339
44
Lithium carbonate Approved Phase 2 554-13-2
45
Tetracycline Approved, Vet_approved Phase 1, Phase 2 60-54-8 5353990
46
Bupropion Approved Phase 2 34841-39-9, 34911-55-2 444
47
Amantadine Approved Phase 2 768-94-5 2130
48
Citalopram Approved Phase 2 59729-33-8 2771
49
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
50 Analgesics Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 181)
# 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 Completed 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 Minocycline Attenuate Postoperative Cognitive Dysfunction and Delirium Unknown status NCT02928692 Phase 3 Minocycline;Placebo
6 A 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
7 Pilot Study of Minocycline in Huntington's Disease Completed NCT00277355 Phase 2, Phase 3 minocycline;Matching placebo
8 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
9 A Study of Treatment With Pridopidine (ACR16) in Patients With Huntington's Disease Completed NCT00665223 Phase 3 ACR16;Placebo
10 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3 coenzyme Q10
11 TREND-HD - A Trial of Ethyl-EPA (Miraxion™) in Treating Mild to Moderate Huntington's Disease Completed NCT00146211 Phase 3 Ethyl-EPA (Miraxion™)
12 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
13 An Extension of the HORIZON Protocol Evaluating the Safety of Dimebon (Latrepirdine) in Subjects With Huntington Disease Terminated NCT01085266 Phase 3 Dimebon (latrepirdine)
14 A Safety and Efficacy Study of Dimebon in Patients With Huntington Disease Completed NCT00920946 Phase 3 Dimebon
15 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
16 Riluzole in Huntington's Disease Completed NCT00277602 Phase 3 Riluzole
17 First Time Use of SD-809 in Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
18 Alternatives for Reducing Chorea in HD Completed NCT01897896 Phase 3 SD-809
19 Efficacy and Safety of Tetrabenazine in Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
20 A Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents Not yet recruiting NCT03813238 Phase 3 Deutetrabenazine;Placebo
21 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
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 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
24 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
25 Open-label Extension Study of Pridopidine (ACR16) in the Symptomatic Treatment of Huntington Disease Completed NCT01306929 Phase 2 pridopidine
26 A Study of the Novel Drug Dimebon in Patients With Huntington's Disease Completed NCT00497159 Phase 2 Dimebon
27 A Study Evaluating if Pridopidine is Safe, Efficacious, and Tolerable in Patients With Huntington's Disease Terminated NCT02494778 Phase 2 Pridopidine
28 Dose-response Evaluation of the Cellavita HD Product in Patients With Huntington's Disease Recruiting NCT03252535 Phase 2
29 Efficacy, Safety and Tolerability of AFQ056 in Patients With Huntington's Disease in Reducing Chorea Terminated NCT01019473 Phase 2 AFQ056;Placebo
30 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
31 Open Label Extension Study To Investigate Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Completed Study A8241021 Terminated NCT02342548 Phase 2 20 mg BID of PF-02545920
32 Neuroprotection by Cannabinoids in Huntington's Disease Completed NCT01502046 Phase 2 delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD);Placebo
33 Efficacy and Safety of SOM3355 in Huntington's Disease Chorea Recruiting NCT03575676 Phase 2 SOM3355 100mg BID;SOM3355 200mg BID;Placebo BID
34 Premanifest Huntington's Disease: Creatine Safety & Tolerability Extension Study Completed NCT01411150 Phase 2 Creatine Monohydrate
35 Premanifest Huntington's Disease Extension Study II: Creatine Safety & Tolerability Completed NCT01411163 Phase 2 Creatine monohydrate
36 Creatine Safety & Tolerability in Huntington's Disease Completed NCT01412151 Phase 2 Creatine monohydrate
37 Safety and Efficacy of Fenofibrate as a Treatment for Huntington's Disease Recruiting NCT03515213 Phase 2 Fenofibrate;Placebo
38 A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease Completed NCT01458470 Phase 2 Memantine
39 Safety Study of the Novel Drug Dimebon to Treat Patients With Huntington's Disease Completed NCT00387270 Phase 1, Phase 2 Dimebon
40 Safety and Tolerability of WVE-120102 in Patients With Huntington's Disease Recruiting NCT03225846 Phase 1, Phase 2 WVE-120102;Placebo
41 Safety and Tolerability of WVE-120101 in Patients With Huntington's Disease Recruiting NCT03225833 Phase 1, Phase 2 WVE-120101;Placebo
42 VX15/2503 Treatment for Huntington's Disease Active, not recruiting NCT02481674 Phase 2 VX15/2503;Placebo
43 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
44 Safety and Efficacy of OMS643762 in Subjects With Huntington's Disease Terminated NCT02074410 Phase 2 OMS643762;Placebo
45 Effects of EGCG (Epigallocatechin Gallate) in Huntington's Disease (ETON-Study) Completed NCT01357681 Phase 2 (2)-epigallocatechin-3-gallate (EGCG);Placebo
46 Study Exploring Safety, Pharmacokinetic and Pharmacodynamic of BN82451 in Male Huntington's Disease Patients Terminated NCT02231580 Phase 2 BN82451B;Placebo
47 Effect of PBT2 in Patients With Early to Mid Stage Huntington Disease Completed NCT01590888 Phase 2 PBT2;PBT2;Placebo
48 Creatine Therapy for Huntington's Disease Completed NCT00026988 Phase 1, Phase 2 Creatine
49 Safety and Tolerability Study of Phenylbutyrate in Huntington's Disease (PHEND-HD) Completed NCT00212316 Phase 2 sodium phenylbutyrate
50 A Clinical Study in Subjects With Huntington's Disease to Assess Efficacy and Safety of Three Oral Doses of Laquinimod Completed NCT02215616 Phase 2 Laquinimod;Placebo

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

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:

41
Brain, Testes, Eye, Globus Pallidus, Cortex, Skeletal Muscle, T Cells
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

About this section

Articles related to Huntington Disease:

(show top 50) (show all 2031)
# Title Authors Year
1
Normalizing glucocorticoid levels attenuates metabolic and neuropathological symptoms in the R6/2 mouse model of huntington's disease. ( 30292559 )
2019
2
A Thorough QT/QTc Study With Laquinimod, a Novel Immunomodulator in Development for Multiple Sclerosis and Huntington Disease. ( 29786964 )
2018
3
Alteration in Fluidity of Cell Plasma Membrane in Huntington Disease Revealed by Spectral Phasor Analysis. ( 29335600 )
2018
4
Agreement between clinician-rated versus patient-reported outcomes in Huntington disease. ( 29687215 )
2018
5
Gradual Phenotype Development in Huntington Disease Transgenic Minipig Model at 24 Months of Age. ( 29870995 )
2018
6
HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo. ( 29121340 )
2018
7
Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy. ( 29315899 )
2018
8
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease. ( 29342448 )
2018
9
Huntington disease. ( 29325616 )
2018
10
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
11
Calpastatin ablation aggravates the molecular phenotype in cell and animal models of Huntington disease. ( 29355642 )
2018
12
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
13
Genetic Rodent Models of Huntington Disease. ( 29427097 )
2018
14
Neurology outreach clinic for Huntington disease in Peru: Lessons for neurodegenerative diseases. ( 29980636 )
2018
15
Understanding patient-reported outcome measures in Huntington disease: at what point is cognitive impairment related to poor measurement reliability? ( 29909483 )
2018
16
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease. ( 29802276 )
2018
17
Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease. ( 29967967 )
2018
18
Objective assessment of gait and posture in premanifest and manifest Huntington disease - A multi-center study. ( 29660633 )
2018
19
Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease. ( 29945611 )
2018
20
Evaluating the current state of the art of Huntington disease research: a scientometric analysis. ( 29340519 )
2018
21
Pearls &amp;amp; Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy. ( 29335306 )
2018
22
Behavioral symptoms in premanifest Huntington disease correlate with reduced frontal CB1R levels. ( 29934407 )
2018
23
Neurofilament light protein in blood predicts regional atrophy in Huntington disease. ( 29367444 )
2018
24
Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysis. ( 29926145 )
2018
25
Evaluating depression and suicidality in tetrabenazine users with Huntington disease. ( 29925548 )
2018
26
Physician perceptions of pharmacologic treatment options for chorea associated with Huntington disease in the United States. ( 29383957 )
2018
27
CSF microRNA in patients with Huntington disease. ( 29282335 )
2018
28
ANN and Fuzzy Logic Based Model to Evaluate Huntington Disease Symptoms. ( 29713439 )
2018
29
Longitudinal Anthropometric Assessment of Rhesus Macaque (<i>Macaca mulatta</i>) Model of Huntington Disease. ( 29663942 )
2018
30
Overlap between age-at-onset and disease-progression determinants in Huntington disease. ( 29743208 )
2018
31
Sertoli Cells Avert Neuroinflammation-Induced Cell Death and Improve Motor Function and Striatal Atrophy in Rat Model of Huntington Disease. ( 29680983 )
2018
32
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
33
MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study. ( 29282329 )
2018
34
Ameliorating the age at onset and disease progression in Huntington disease. ( 29743206 )
2018
35
The Alteration of Emotion Regulation Precedes the Deficits in Interval Timing in the BACHD Rat Model for Huntington Disease. ( 29867384 )
2018
36
Guarana (Paullinia cupana) Extract Protects Caenorhabditis elegans Models for Alzheimer Disease and Huntington Disease through Activation of Antioxidant and Protein Degradation Pathways. ( 30116496 )
2018
37
Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder. ( 29670796 )
2018
38
Dysphagia characteristics in Huntington's disease patients: insights from the Fiberoptic Endoscopic Evaluation of Swallowing and the Swallowing Disturbances Questionnaire. ( 30198457 )
2018
39
Cannabinoids for Treatment of Dystonia in Huntington's Disease. ( 29562549 )
2018
40
Factors Associated With End-of-Life Planning in Huntington Disease. ( 28655280 )
2018
41
Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study. ( 29105741 )
2018
42
HIPK3 modulates autophagy and HTT protein levels in neuronal and mouse models of Huntington disease. ( 29130397 )
2018
43
A new measure for end of life planning, preparation, and preferences in Huntington disease: HDQLIFE end of life planning. ( 29143208 )
2018
44
The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease. ( 29460111 )
2018
45
The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population. ( 29460498 )
2018
46
Age at Death and Causes of Death in Patients with Huntington Disease in Norway in 1986-2015. ( 29480207 )
2018
47
Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease. ( 29496355 )
2018
48
Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease. ( 29510748 )
2018
49
Human Umbilical Cord Matrix Stem Cells Reverse Oxidative Stress-Induced Cell Death and Ameliorate Motor Function and Striatal Atrophy in Rat Model of Huntington Disease. ( 29520722 )
2018
50
https: //journals.lww.com/cogbehavneurol/fulltext/2001/10000/behavioral_changes_in_huntington_disease.4.aspx Behavioral Changes in Huntington Disease. ( 29561317 )
2018
Sources

Variations for Huntington Disease

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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): c.52_54(?_25) NT expansion Benign rs71180116 GRCh37 Chromosome 4, 3076604: 3076606
3 HTT NM_002111.6(HTT): c.52_54(?_25) NT expansion Benign rs71180116 GRCh38 Chromosome 4, 3074877: 3074879
4 HTT NM_002111.6(HTT) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076604
5 HTT NM_002111.6(HTT) NT expansion Pathogenic GRCh38 Chromosome 4, 3074877: 3074877
6 HTT NM_002111.6(HTT): c.52CAG(36_39) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076604
7 HTT NM_002111.6(HTT): c.52CAG(36_39) NT expansion Pathogenic GRCh38 Chromosome 4, 3074877: 3074877
Sources

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.
Sources

Pathways for Huntington Disease

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Pathways related to Huntington Disease according to KEGG:

37
# 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 MIR29A MIR29C
Sources

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 micro-ribonucleoprotein complex GO:0035068 9.17 MEG3 MIR132 MIR22 MIR29A MIR29C MIR330
2 inclusion body GO:0016234 9.13 HAP1 HTT PRNP

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.69 HIP1 MIR132 MIR29A
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 9.32 HAP1 PRNP
9 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.26 MIR29A MIR29C
10 gene silencing by miRNA GO:0035195 9.17 MEG3 MIR132 MIR22 MIR29A MIR29C MIR330
11 negative regulation of circulating fibrinogen levels GO:0061754 9.16 MIR29A MIR29C
12 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0031587 8.96 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

Sources for Huntington Disease

About this section
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
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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