MCID: HNT016
MIFTS: 76

Huntington Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Huntington Disease

MalaCards integrated aliases for Huntington Disease:

Name: Huntington Disease 54 12 23 50 24 25 56 71 13 52 42 38 69
Huntington's Disease 38 12 72 50 25 51 41 14
Huntington's Chorea 12 50 25 29
Huntington Chorea 23 24 25 56
Hd 12 50 24 71
Juvenile Huntington Disease 56 69
Huntington Chronic Progressive Hereditary Chorea 25
Juvenile Huntington Chorea 56
Jhd 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:

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

Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Huntington Disease

NINDS : 51 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 huntington disease-like 1, and has symptoms including spasticity, cerebral cortical atrophy and dementia. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways are Huntington's disease and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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

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 : 50 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

OMIM : 54
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 : 41 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 : 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.

Wikipedia : 72 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 3 Huntington Disease-Like 2
Huntington Disease-Like 1 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 55)
id Related Disease Score Top Affiliating Genes
1 huntington disease-like 2 12.4
2 huntington disease-like 1 12.3
3 juvenile huntington disease 12.2
4 huntington disease-like syndrome 12.2
5 huntington disease-like syndrome due to c9orf72 expansions 12.1
6 huntington disease-like 3 12.0
7 spinocerebellar ataxia 17 11.7
8 mcleod syndrome with or without chronic granulomatous disease 11.2
9 striatonigral degeneration, infantile 11.0
10 spinocerebellar ataxia type17 10.8
11 sjogren's syndrome 10.8 HTT JPH3 TBP
12 uv-induced skin damage 10.7 HTT JPH3
13 ovarian cystadenocarcinoma 10.7 BDNF CASP3 GRIN2B PRNP
14 rigidity and multifocal seizure syndrome, lethal neonatal 10.7 HAP1 JPH3 TBP
15 dystonia-parkinsonism, x-linked 10.7
16 dysphagia 10.7
17 swallowing disorders 10.7
18 idiopathic generalized epilepsy 10.7 BDNF CALB1 CASP3 GRIN2B
19 prostate carcinoma in situ 10.7 BDNF CASP3 HTT PRNP
20 postmenopausal atrophic vaginitis 10.6 BDNF CASP3 CASP8
21 schistosoma mansoni infection, susceptibility/ 10.6 CREB1 PRNP TBP
22 cystadenoma 10.5 BDNF CASP3 CASP8
23 parkinson disease, late-onset 10.5 BDNF CALB1 CASP3 GRIN2B HTT TBP
24 long qt syndrome 5 10.4 BDNF CALB1 CASP3 CREBBP HTT PRNP
25 testicular lymphoma 10.3 BDNF CALB1 GRIN2B
26 neuronitis 10.1
27 ataxia 9.8
28 fragile x syndrome 9.8
29 schizophrenia 9.8
30 motor neuron disease 9.8
31 hydrocephalus 9.7
32 alzheimer disease 9.7
33 normal pressure hydrocephalus 9.7
34 neuropathy 9.6
35 myotonic dystrophy 9.6
36 hereditary spastic paraplegia 9.6
37 tardive dyskinesia 9.6
38 porphyria variegata 9.6
39 familial adenomatous polyposis 9.6
40 chorea and dementia 9.6
41 chronic progressive external ophthalmoplegia 9.6
42 dementia 9.6
43 porphyria 9.6
44 cerebral atrophy 9.6
45 wilson disease 9.6
46 trichotillomania 9.6
47 tic disorder 9.6
48 spasticity 9.6
49 machado-joseph disease 9.6
50 substance abuse 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:

54

Neurologic- Central Nervous System:
chorea
hyperreflexia
bradykinesia
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:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 56 32 frequent (33%) Frequent (79-30%) HP:0001257
2 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
3 dementia 56 32 frequent (33%) Frequent (79-30%) HP:0000726
4 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
5 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
6 behavioral abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000708
7 abnormality of movement 56 32 frequent (33%) Frequent (79-30%) HP:0100022
8 abnormality of the voice 56 32 frequent (33%) Frequent (79-30%) HP:0001608
9 chorea 32 HP:0002072
10 hyperreflexia 32 HP:0001347
11 seizures 32 HP:0001250
12 personality changes 32 HP:0000751
13 bradykinesia 32 HP:0002067
14 rigidity 32 occasional (7.5%) HP:0002063
15 depression 32 HP:0000716
16 gait ataxia 32 HP:0002066
17 cerebellar atrophy 32 HP:0001272
18 gliosis 32 HP:0002171
19 abnormality of eye movement 32 HP:0000496
20 neuronal loss in central nervous system 32 HP:0002529

UMLS symptoms related to Huntington Disease:


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

MGI Mouse Phenotypes related to Huntington Disease:

44
id 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 CASP3 CASP8 CREB1 CREBBP GRIN2B HAP1
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 HTT PRNP TGM2 BDNF CASP3 CASP8
9 no phenotypic analysis MP:0003012 9.5 BDNF CASP3 GRIN2B HTT PRNP TBP
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 145)
id 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 Phase 4,Phase 3 58-46-8 6018
4 Tocopherol Approved, Nutraceutical Phase 4
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
6 Adrenergic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
7 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
9 Tocopherols Phase 4
10 Tocotrienols Phase 4
11 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
13 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
14 Liver Extracts Phase 4
15 Antiparkinson Agents Phase 4,Phase 2
16 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
17
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
18
Cysteamine Approved, Investigational Phase 2, Phase 3 60-23-1 6058
19
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
20
Minocycline Approved, Investigational Phase 2, Phase 3, Phase 1 10118-90-8 5281021
21
Epigallocatechin gallate Investigational Phase 3,Phase 2 989-51-5 65064
22
Resveratrol Experimental, Investigational Phase 3 501-36-0 445154
23
Serotonin Phase 3,Phase 2 50-67-9 5202
24 Analgesics Phase 3,Phase 2,Phase 1
25 Central Nervous System Depressants Phase 3,Phase 2,Phase 1,Early Phase 1
26 Serotonin Agents Phase 3,Phase 2
27 Serotonin Uptake Inhibitors Phase 3,Phase 2
28 Gastrointestinal Agents Phase 3,Phase 1
29 Tiapride Hydrochloride Phase 3
30 Tranquilizing Agents Phase 3,Phase 2,Phase 1,Early Phase 1
31 Dopamine Antagonists Phase 3,Early Phase 1
32 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
33 Antiemetics Phase 3
34 Psychotropic Drugs Phase 3,Phase 2,Phase 1,Early Phase 1
35 Antipsychotic Agents Phase 3,Early Phase 1
36 Autonomic Agents Phase 3,Phase 2,Phase 1
37 Ubiquinone Phase 3,Phase 2,Phase 1
38 Micronutrients Phase 3,Phase 2,Phase 1
39 Neuroprotective Agents Phase 3,Phase 2
40 Analgesics, Non-Narcotic Phase 3,Phase 2
41 Trace Elements Phase 3,Phase 2,Phase 1
42 Anti-Bacterial Agents Phase 2, Phase 3, Phase 1
43 Vitamins Phase 3,Phase 2
44 Anti-Infective Agents Phase 2, Phase 3, Phase 1
45 Anticonvulsants Phase 3
46 Protective Agents Phase 3,Phase 2,Phase 1
47 Antioxidants Phase 3,Phase 2
48 Platelet Aggregation Inhibitors Phase 3
49 Anti-Inflammatory Agents Phase 3
50 Anti-Inflammatory Agents, Non-Steroidal Phase 3

Interventional clinical trials:

(show top 50) (show all 164)

id Name Status NCT ID Phase Drugs
1 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4 Memantine
2 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
3 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463 Phase 4
4 A Pilot Study Assessing Impulsivity in Patients With Huntington's Disease on Xenazine (Tetrabenazine) Recruiting NCT02509793 Phase 4 Tetrabenazine
5 Effect of Tetrabenazine on Stroop Interference in HD Recruiting NCT01834911 Phase 4 Tetrabenazine withdrawal
6 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Unknown status NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
7 Multicentric Trial of the Treatment of Huntington's Disease by Cysteamine (RP103) Unknown status NCT02101957 Phase 2, Phase 3 RP103;Placebo
8 Family Health After Predictive Huntington Disease (HD) Testing Completed NCT00075140 Phase 3
9 A Study of Treatment With Pridopidine (ACR16) in Patients With Huntington's Disease Completed NCT00665223 Phase 3 ACR16;Placebo
10 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
11 Pilot Study of Minocycline in Huntington's Disease Completed NCT00277355 Phase 2, Phase 3 minocycline;Matching placebo
12 TREND-HD - A Trial of Ethyl-EPA (Miraxion™) in Treating Mild to Moderate Huntington's Disease Completed NCT00146211 Phase 3 Ethyl-EPA (Miraxion™)
13 A Safety and Efficacy Study of Dimebon in Patients With Huntington Disease Completed NCT00920946 Phase 3 Dimebon
14 Riluzole in Huntington's Disease Completed NCT00277602 Phase 3 Riluzole
15 First Time Use of SD-809 in Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
16 Efficacy and Safety of Tetrabenazine in Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
17 Progression Rate of MSA Under EGCG Supplementation as Anti-Aggregation-Approach Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
18 Resveratrol and Huntington Disease Recruiting NCT02336633 Phase 3
19 Minocycline Attenuate Postoperative Cognitive Dysfunction and Delirium Recruiting NCT02928692 Phase 3 Minocycline;Placebo
20 Alternatives for Reducing Chorea in HD Active, not recruiting NCT01897896 Phase 3 SD-809
21 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3 coenzyme Q10
22 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
23 An Extension of the HORIZON Protocol Evaluating the Safety of Dimebon (Latrepirdine) in Subjects With Huntington Disease Terminated NCT01085266 Phase 3 Dimebon (latrepirdine)
24 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
25 A Study of the Novel Drug Dimebon in Patients With Huntington's Disease Completed NCT00497159 Phase 2 Dimebon
26 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
27 Safety Study of the Novel Drug Dimebon to Treat Patients With Huntington's Disease Completed NCT00387270 Phase 1, Phase 2 Dimebon
28 Neuroprotection by Cannabinoids in Huntington's Disease Completed NCT01502046 Phase 2 delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD);Placebo
29 Creatine Therapy for Huntington's Disease Completed NCT00026988 Phase 1, Phase 2 Creatine
30 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
31 A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease Completed NCT01458470 Phase 2 Memantine
32 Premanifest Huntington's Disease: Creatine Safety & Tolerability Extension Study Completed NCT01411150 Phase 2 Creatine Monohydrate
33 Premanifest Huntington's Disease Extension Study II: Creatine Safety & Tolerability Completed NCT01411163 Phase 2 Creatine monohydrate
34 Creatine Safety & Tolerability in Huntington's Disease Completed NCT01412151 Phase 2 Creatine monohydrate
35 Safety and Tolerability Study of Phenylbutyrate in Huntington's Disease (PHEND-HD) Completed NCT00212316 Phase 2 sodium phenylbutyrate
36 Effects of Lithium and Divalproex`on Brain-Derived Neurotrophic Factor in Huntington's Disease Completed NCT00095355 Phase 2 Lithium;Divalproex
37 Effects of EGCG (Epigallocatechin Gallate) in Huntington's Disease (ETON-Study) Completed NCT01357681 Phase 2 (2)-epigallocatechin-3-gallate (EGCG);Placebo
38 Minocycline in Patients With Huntington's Disease Completed NCT00029874 Phase 1, Phase 2 Minocycline
39 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
40 Study in PRE-manifest Huntington's Disease of Coenzyme Q10 (UbiquinonE) Leading to Preventive Trials (PREQUEL) Completed NCT00920699 Phase 2 CoQ10
41 Study Exploring Safety, Pharmacokinetic and Pharmacodynamic of BN82451 in Male Huntington's Disease Patients Completed NCT02231580 Phase 2 BN82451B;Placebo
42 Effect of PBT2 in Patients With Early to Mid Stage Huntington Disease Completed NCT01590888 Phase 2 PBT2;PBT2;Placebo
43 MIG-HD: Multicentric Intracerebral Grafting in Huntington's Disease Completed NCT00190450 Phase 2
44 Apathy Cure Through Bupropion in Huntington's Disease Completed NCT01914965 Phase 2 Bupropion;Placebo
45 Atomoxetine and Huntington's Disease Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
46 Treatment of Huntington's Chorea With Amantadine Completed NCT00001930 Phase 2 Amantadine
47 Proof of Concept of an Anaplerotic Study Using Brain Phosphorus Magnetic Resonance Spectroscopy in Huntington Disease Completed NCT01882062 Phase 2 Triheptanoin 1g/kg/day
48 A Phase II Safety and Tolerability Study With SEN0014196 Completed NCT01521585 Phase 2 SEN0014196;SEN0014196;Placebo
49 Citalopram to Enhance Cognition in HD Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
50 Creatine Safety and Tolerability in Premanifest HD: PRECREST Completed NCT00592995 Phase 2 Creatine monohydrate;Placebo

Search NIH Clinical Center for Huntington Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

id Genetic test Affiliating Genes
1 Huntington's Chorea 29
2 Huntington Disease 24 HTT

Anatomical Context for Huntington Disease

MalaCards organs/tissues related to Huntington Disease:

39
Brain, Testes, Liver, Eye, Globus Pallidus, Bone, B Cells
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Huntington Disease:
id Tissue Anatomical CompartmentCell Relevance
1 Brain Striatum Affected by disease

Publications for Huntington Disease

Articles related to Huntington Disease:

(show top 50) (show all 374)
id Title Authors Year
1
Cognitive assessment in Huntington disease clinical drug trials. ( 28947120 )
2017
2
Mechanisms underlying neurodegeneration in Huntington disease: applications to novel disease-modifying therapies. ( 28947113 )
2017
3
Genetic testing for Huntington disease. ( 28947110 )
2017
4
Cerebellar Gray Matter Alterations in Huntington Disease: A Voxel-Based Morphometry Study. ( 28528357 )
2017
5
Resting-state connectivity and modulated somatomotor and default-mode networks in Huntington disease. ( 28464463 )
2017
6
New symptomatic therapies for Huntington disease. ( 28947118 )
2017
7
The role of rehabilitation therapy in Huntington disease. ( 28947114 )
2017
8
Is mitochondrial oxidative metabolism the right therapy target in early Huntington disease? ( 27913697 )
2017
9
Medical treatment of behavioral manifestations of Huntington disease. ( 28947111 )
2017
10
Putaminal Hypometabolism Exceeding Caudate Abnormalities on 18F-FDG PET in Huntington Disease. ( 28418951 )
2017
11
Making a measurable difference in advanced Huntington disease care. ( 28947117 )
2017
12
A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease. ( 27913695 )
2017
13
Medical management of motor manifestations of Huntington disease. ( 28947112 )
2017
14
Targeting the equilibrative nucleoside transporter ENT1 in Huntington disease. ( 28179589 )
2017
15
Contemporary health care for Huntington disease. ( 28947115 )
2017
16
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent StemA Cells. ( 28238795 )
2017
17
The highly anxious individual presenting for Huntington disease-predictive genetic testing: the psychiatrist's role in assessment and counseling. ( 28947129 )
2017
18
Epidemiology of Huntington disease. ( 28947124 )
2017
19
Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease. ( 28175299 )
2017
20
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
21
The impact of Huntington disease on young people. ( 28947116 )
2017
22
Structural imaging in premanifest and manifest Huntington disease. ( 28947121 )
2017
23
Inclusions of R6/2 Mice Are Not Amyloid and Differ Structurally from Those of Huntington Disease Brain. ( 28398721 )
2017
24
Functional imaging in Huntington disease. ( 28947122 )
2017
25
Genetics of Huntington disease. ( 28947123 )
2017
26
Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells. ( 28497201 )
2017
27
The diagnosis and natural history of Huntington disease. ( 28947126 )
2017
28
Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature. ( 28428907 )
2017
29
Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease. ( 28265459 )
2017
30
Preclinical motor manifestations of Huntington disease. ( 28947128 )
2017
31
Metoprolol-pridopidine drug-drug interaction and food effect assessments of pridopidine, a new drug for treatment of Huntington Disease. ( 28449367 )
2017
32
Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure? ( 28396959 )
2017
33
The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease. ( 27818324 )
2017
34
Presentation and care of a family with Huntington disease in a resource-limited community. ( 28413688 )
2017
35
Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts. ( 28508341 )
2017
36
A liminal stage after predictive testing for Huntington disease. ( 28087720 )
2017
37
Feasibility of computerized working memory training in individuals with Huntington disease. ( 28453532 )
2017
38
Exercise effects in Huntington disease. ( 27747393 )
2017
39
Cognitive and behavioral changes in Huntington disease before diagnosis. ( 28947127 )
2017
40
Further investigation of phenotypes and confounding factors of progressive ratio performance and feeding behavior in the BACHD rat model of Huntington disease. ( 28273120 )
2017
41
Statistical modeling of Huntington disease onset. ( 28947125 )
2017
42
Motor outcome measures in Huntington disease clinical trials. ( 28947119 )
2017
43
Huntington Disease: Linking Pathogenesis to the Development of Experimental Therapeutics. ( 28265888 )
2017
44
A Systematic Review of the Huntington Disease-Like 2 Phenotype. ( 28339400 )
2017
45
Functional impairment of precerebral arteries in Huntington disease. ( 27817854 )
2017
46
Huntington disease. ( 28221321 )
2017
47
The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory. ( 28045968 )
2017
48
Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial. ( 27380342 )
2016
49
Two different phenomena in basic motor speech performance in premanifest Huntington disease. ( 27872224 )
2016
50
Deutetrabenazine for Treatment of Chorea in Huntington Disease. ( 27380339 )
2016

Variations for Huntington Disease

ClinVar genetic disease variations for Huntington Disease:

6
id 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): c.52CAG(36_39) NT expansion Pathogenic GRCh37 Chromosome 4, 3076604: 3076604

Expression for Huntington Disease

LifeMap Discovery
Genes differentially expressed in tissues of Huntington Disease patients vs. healthy controls: 35 (show all 11)
id 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
id Name Kegg Source Accession
1 Huntington's disease hsa05016

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

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 BDNF CASP3 CASP8 CREB1 CREBBP GRIN2B
2
Show member pathways
12.41 CASP3 CASP8 CREBBP GRIN2B HAP1 HIP1
3 12.28 CALB1 CREB1 GRIN2B HTT PRNP
4
Show member pathways
12.08 BDNF CREB1 CREBBP GRIN2B
5 12.01 CASP3 CASP8 CREB1 CREBBP
6 11.96 CASP3 CASP8 CREB1 CREBBP TBP
7 11.92 BDNF CASP3 CREB1 CREBBP
8 11.78 BDNF CASP3 CREB1 GRIN2B
9 11.73 CASP3 CASP8 CREB1
10 11.6 CREB1 CREBBP TBP
11 11.34 CREB1 CREBBP SLC2A3
12 10.49 CREBBP TBP
13 10.48 BDNF CASP3 CREB1

GO Terms for Huntington Disease

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

id 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 11)
id Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.65 CASP8 CREB1 CREBBP HIP1 IFT57
2 apoptotic signaling pathway GO:0097190 9.61 CASP3 CASP8 HIP1
3 neurotrophin TRK receptor signaling pathway GO:0048011 9.49 CASP3 HAP1
4 vesicle transport along microtubule GO:0047496 9.48 HAP1 HTT
5 negative regulation of activated T cell proliferation GO:0046007 9.46 CASP3 PRNP
6 response to cobalt ion GO:0032025 9.37 CASP3 CASP8
7 protein destabilization GO:0031648 9.32 HTT PRNP
8 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP3 CASP8 HIP1 IFT57
9 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0031587 9.16 HAP1 HTT
10 negative regulation of beta-amyloid formation GO:1902430 9.1 HAP1
11 learning or memory GO:0007611 8.92 CALB1 CASP3 GRIN2B PRNP

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.56 CREB1 CREBBP HTT TBP
2 ion channel binding GO:0044325 9.5 HAP1 HTT PRNP
3 death receptor binding GO:0005123 9.16 CASP3 CASP8
4 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 8.96 CASP3 CASP8
5 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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