HD
MCID: HNT016
MIFTS: 80

Huntington Disease (HD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases

Aliases & Classifications for Huntington Disease

Aliases & Descriptions for Huntington Disease:

Name: Huntington Disease 54 12 23 50 24 25 56 66 13 52 42 38 69
Huntington's Disease 38 12 71 50 25 51 41 14
Huntington Chorea 23 24 25 56 29
Huntington's Chorea 12 50 25 14
Hd 12 50 24 66
Juvenile Huntington Disease 56 69
Congenital Anomalies of Kidney and Urinary Tract 2 54
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;

GeneReviews:

23
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


External Ids:

OMIM 54 143100
Disease Ontology 12 DOID:12858
ICD10 33 G10
ICD9CM 35 333.4
MeSH 42 D006816
NCIt 47 C82342
SNOMED-CT 64 155006000 58756001
MESH via Orphanet 43 D006816
UMLS via Orphanet 70 C0020179 C0751208
ICD10 via Orphanet 34 G10
MedGen 40 C0020179
UMLS 69 C0020179

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 juvenile huntington disease, and has symptoms including spasticity, eeg abnormality and developmental regression. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways are Huntington's disease and 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... (143100) more...

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 : 66 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 : 71 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 54)
id Related Disease Score Top Affiliating Genes
1 huntington disease-like 2 12.4
2 juvenile huntington disease 12.3
3 huntington disease-like 1 12.3
4 huntington disease-like syndrome 12.2
5 huntington disease-like syndrome due to c9orf72 expansions 12.1
6 huntington disease-like 3 12.1
7 pelviureteric junction obstruction 11.8
8 spinocerebellar ataxia 17 11.7
9 mcleod syndrome with or without chronic granulomatous disease 11.2
10 spinocerebellar ataxia type17 10.8
11 dysphagia 10.7
12 swallowing disorders 10.7
13 dystonia-parkinsonism, x-linked 10.7
14 ovarian mucinous adenocarcinoma 10.4 BDNF CASP3 GRIN2B PRNP
15 ciliary dyskinesia, primary, 18 10.4 HAP1 JPH3 TBP
16 sjogren's syndrome 10.3 HTT JPH3 TBP
17 idiopathic generalized epilepsy 10.3 BDNF CALB1 CASP3 GRIN2B
18 melanoma, cutaneous malignant, 5 10.3 HTT JPH3
19 hemochromatosis, type 2a 10.3 BDNF CASP3 HTT TBP
20 substance-induced psychosis 10.3 BDNF CASP3 HTT PRNP
21 long qt syndrome 5 10.3 BDNF CALB1 CASP3 CREBBP HTT PRNP
22 osteoporosis 10.3 CREB1 PRNP TBP
23 postmenopausal atrophic vaginitis 10.3 BDNF CASP3 CASP8
24 cystadenoma 10.2 BDNF CASP3 CASP8
25 neuronitis 10.1
26 ataxia 9.8
27 fragile x syndrome 9.8
28 schizophrenia 9.8
29 motor neuron disease 9.8
30 normal pressure hydrocephalus 9.7
31 hydrocephalus 9.7
32 alzheimer disease 9.7
33 wilson disease 9.6
34 trichotillomania 9.6
35 tic disorder 9.6
36 spasticity 9.6
37 machado-joseph disease 9.6
38 substance abuse 9.6
39 cerebritis 9.6
40 tremor 9.6
41 paraplegia 9.6
42 prion disease 9.6
43 neuropathy 9.6
44 myotonic dystrophy 9.6
45 hereditary spastic paraplegia 9.6
46 tardive dyskinesia 9.6
47 porphyria variegata 9.6
48 familial adenomatous polyposis 9.6
49 chorea and dementia 9.6
50 chronic progressive external ophthalmoplegia 9.6

Comorbidity relations with Huntington Disease via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Huntington Disease:



Diseases related to Huntington Disease

Symptoms & Phenotypes for Huntington Disease

Symptoms by clinical synopsis from OMIM:

143100

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

UMLS symptoms related to Huntington Disease:


back pain, headache, myoclonus, pain, sciatica, seizures, syncope, tremor, chronic pain, bradykinesia, personality changes, vertigo/dizziness, sleeplessness, tremor nec in icd9cm_2014

MGI Mouse Phenotypes related to Huntington Disease:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.42 TBP TGM2 BDNF CALB1 CASP3 CREB1
2 growth/size/body region MP:0005378 10.41 CASP3 CASP8 CREB1 CREBBP GRIN2B HAP1
3 cellular MP:0005384 10.34 IFT57 PRNP SETDB1 TBX18 TGM2 BDNF
4 mortality/aging MP:0010768 10.33 HAP1 HIP1 HTT IFT57 JPH3 PRNP
5 homeostasis/metabolism MP:0005376 10.3 BDNF CASP3 CASP8 CREB1 CREBBP GRIN2B
6 nervous system MP:0003631 10.28 BDNF CALB1 CASP3 CASP8 CREB1 CREBBP
7 cardiovascular system MP:0005385 10.24 CASP3 CASP8 CREB1 CREBBP GRIN2B HTT
8 embryo MP:0005380 10.21 CASP8 CREB1 CREBBP HAP1 HTT IFT57
9 endocrine/exocrine gland MP:0005379 10.15 BDNF CASP3 CASP8 CREB1 CREBBP HIP1
10 integument MP:0010771 10.03 BDNF CASP3 CASP8 CREBBP HAP1 HTT
11 muscle MP:0005369 9.91 CASP3 CASP8 CREB1 CREBBP HIP1 PRNP
12 no phenotypic analysis MP:0003012 9.86 BDNF CASP3 GRIN2B HTT PRNP TBP
13 normal MP:0002873 9.76 PRNP SETDB1 BDNF CALB1 CREB1 CREBBP
14 respiratory system MP:0005388 9.5 BDNF CASP3 CASP8 CREB1 CREBBP HIP1
15 skeleton MP:0005390 9.28 CREB1 CREBBP HIP1 HTT IFT57 PRNP

Drugs & Therapeutics for Huntington Disease

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

(show top 50) (show all 749)
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
Menthol Approved Phase 4 2216-51-5 16666
4
Morphine Approved, Investigational Phase 4,Phase 3 57-27-2 5288826
5
Oseltamivir Approved Phase 4,Phase 3,Phase 2 204255-11-8, 196618-13-0 65028
6
Tetrabenazine Approved Phase 4,Phase 3 58-46-8 6018
7
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 1 58-61-7 60961
8
Regadenoson Approved Phase 4 313348-27-5 219024
9
Celecoxib Approved, Investigational Phase 4,Phase 3,Phase 2 169590-42-5 2662
10
Ibuprofen Approved Phase 4 15687-27-1 3672
11
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2 22204-53-1 1302 156391
12
Etanercept Approved, Investigational Phase 4 185243-69-0
13
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 33069-62-4 36314
14
Certolizumab pegol Approved Phase 4,Phase 3 428863-50-7
15
Saxagliptin Approved Phase 4,Phase 3 361442-04-8 11243969
16
Pimecrolimus Approved, Investigational Phase 4,Phase 3 137071-32-0 6447131 17753757
17
Tacrolimus Approved, Investigational Phase 4,Phase 3 104987-11-3 445643 439492
18
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
19
Adalimumab Approved Phase 4,Phase 3,Phase 2 331731-18-1 16219006
20
Tofacitinib Approved, Investigational Phase 4,Phase 3,Phase 2 477600-75-2
21
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
22
Everolimus Approved Phase 4,Phase 3 159351-69-6 6442177
23
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 22916-47-8 4189
24
Sirolimus Approved, Investigational Phase 4,Phase 3 53123-88-9 5284616 6436030 46835353
25
Zinc Approved Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
26
Zoledronic acid Approved Phase 4,Phase 3 118072-93-8 68740
27
Linagliptin Approved Phase 4,Phase 3 668270-12-0 10096344
28
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
29
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
30
Menotropins Approved Phase 4 61489-71-2 5360545
31
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3 57-83-0 5994
32
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
33
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
34
Rosiglitazone Approved, Investigational Phase 4,Phase 3 122320-73-4 77999
35
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 148553-50-8 5486971
36
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
37
Lisinopril Approved, Investigational Phase 4 83915-83-7 5362119
38
Losartan Approved Phase 4 114798-26-4 3961
39
Nebivolol Approved, Investigational Phase 4,Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
40
Montelukast Approved Phase 4,Phase 3,Phase 2 158966-92-8 5281040
41
Budesonide Approved Phase 4,Phase 3,Phase 2 51333-22-3 63006 5281004
42
Omalizumab Approved, Investigational Phase 4,Phase 3,Phase 2 242138-07-4
43
Famciclovir Approved Phase 4 104227-87-4 3324
44
Cetirizine Approved Phase 4,Phase 3 83881-51-0 2678
45
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2 75614-87-8, 51-45-6 774
46
Levocetirizine Approved Phase 4,Phase 3 130018-77-8
47
belimumab Approved Phase 4,Phase 3 356547-88-1 5957 10451420
48
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2 50-18-0, 6055-19-2 2907
49
Liraglutide Approved Phase 4,Phase 3,Phase 2 204656-20-2
50
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969

Interventional clinical trials:

(show top 50) (show all 1073)
id Name Status NCT ID Phase
1 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4
2 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4
3 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463 Phase 4
4 A Study of the Safety and Tolerance of Regadenoson in Subjects With Asthma or Chronic Obstructive Pulmonary Disease Completed NCT00862641 Phase 4
5 Study to Measure the Safety of Paliperidone ER (Extended-release) in Patients With Liver Disease Completed NCT00535145 Phase 4
6 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
7 The Jetstream (JET) Post-market Registry Completed NCT01436435 Phase 4
8 A Study of Tocilizumab in Comparison to Etanercept in Participants With Rheumatoid Arthritis and Cardiovascular Disease Risk Factors Completed NCT01331837 Phase 4
9 TAXUS ARRIVE: TAXUS Peri-Approval Registry: A Multi-Center Safety Surveillance Program Completed NCT00569491 Phase 4
10 A Comparison of Two Assessment Tools in Predicting Treatment Success of Cimzia in Rheumatoid Arthritis Subjects Completed NCT01255761 Phase 4
11 Does Saxagliptin Reduce the Risk of Cardiovascular Events When Used Alone or Added to Other Diabetes Medications Completed NCT01107886 Phase 4
12 Pimecrolimus Cream 1% Plus Topical Corticosteroid in Patients (2-17 Years of Age) With Severe Atopic Dermatitis Completed NCT00121381 Phase 4
13 Dosing Flexibility Study in Patients With Rheumatoid Arthritis Completed NCT00580840 Phase 4
14 MiDAS II (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study Completed NCT01082159 Phase 4
15 Patiromer With or Without Food for the Treatment of Hyperkalemia Completed NCT02694744 Phase 4
16 An Efficacy And Safety Study Evaluating Tofacitinib With And Without Methotrexate Compared To Adalimumab With Methotrexate Completed NCT02187055 Phase 4
17 Study of the Ease of Use and Correct Use of Placebo ELLIPTA® Inhaler in Subjects With Asthma Completed NCT02586506 Phase 4
18 XIENCE V® USA Dual Antiplatelet Therapy (DAPT) Cohort Completed NCT01106534 Phase 4
19 Exubera Large Simple Trial To Evaluate Long-Term Pulmonary And Cardiovascular Safety Completed NCT00359801 Phase 4
20 Non-small Cell Lung Cancer Registry Completed NCT00099541 Phase 4
21 Linagliptin and Metformin Versus Linagliptin in Newly Diagnosed, Untreated Type 2 Diabetes Completed NCT01512979 Phase 4
22 MENOPUR® Versus FOLLISTIM® Completed NCT00802360 Phase 4
23 Efficacy and Safety of Valsartan/Hydrochlorothiazide Combination Compared to Valsartan Monotherapy or Hydrochlorothiazide Monotherapy in Elderly (>70) With Mild-moderate Hypertension. Completed NCT00698646 Phase 4
24 A Study In Pediatric Subjects With Asthma Using ADVAIR HFA, ADVAIR HFA With Spacer, And ADVAIR DISKUS Completed NCT00400608 Phase 4
25 GI-Reasons- A Trial Of GI Safety Of Celecoxib Compared With Non-Selective Nonsteroidal Antiinflammatory Drugs (NSAIDS) Completed NCT00373685 Phase 4
26 Study In Postmenopausal Women With Type 2 Diabetes Looking At Approved Diabetes Drugs And How They Affect Bone Health Completed NCT00679939 Phase 4
27 Fixed Versus Flexible Dosing of Pregabalin in Patients With Fibromyalgia Completed NCT01226667 Phase 4
28 Study to Measure Drug Satisfaction of Patients With Schizophrenia After Switching From Risperidone to Paliperidone Completed NCT00535132 Phase 4
29 Study Of "Continuous Use" Of Celecoxib Vs. "Usual or Intermittent Use" Completed NCT00139776 Phase 4
30 Effect of Dapagliflozin on 24-hour Blood Glucose in T2DM Patients Inadequately Controlled With Either Metformin Or Insulin Completed NCT02429258 Phase 4
31 A Study Of The Safety and Efficacy Of Viagra In Men With Erectile Dysfunction Who Do Not Self Identify. Completed NCT00343200 Phase 4
32 The Blood Pressure and Metabolic Effects of Nebivolol in Hypertensive Patients With Impaired Glucose Tolerance or Impaired Fasting Glucose Completed NCT00673790 Phase 4
33 Crossover Study Comparing Fluticasone Furoate (FF)/Vilanterol (VI) Once Daily Versus Fluticasone Propionate (FP) Twice Daily in Subjects With Asthma and Exercise-Induced Bronchoconstriction (EIB) Completed NCT02730351 Phase 4
34 SAS115359: A 6-month Study to Assess the Safety and Benefit of Inhaled Fluticasone Propionate/Salmeterol Combination Compared With Inhaled Fluticasone Propionate in the Treatment of Adolescents and Adults (12 Years of Age and Older) With Asthma. Completed NCT01475721 Phase 4
35 6-month Safety and Benefit Study of ADVAIR in Children 4-11 Years Old Completed NCT01462344 Phase 4
36 Evaluation of Risk Minimization, Assessment and Outcomes in Patients With Chronic Pain Taking Avinza Completed NCT00640042 Phase 4
37 A Study Evaluating Vardenafil Compared to Placebo in Subjects With Erectile Dysfunction (ED) and Dyslipidemia Completed NCT00379756 Phase 4
38 Phase IV Study in Asthma Subjects for Dry Powder Inhaler (DPI) Versus (vs) Metered Dose Inhaler (MDI) Correct Use Completed NCT02794480 Phase 4
39 Study Of Patients With Allergic Rhinitis And Asthma Completed NCT00296530 Phase 4
40 Phase 4 Fluticasone Furoate Nasal Spray (VERAMYST) Long Term Pediatric Growth Study. Completed NCT00570492 Phase 4
41 Comparator Study Evaluating Patient Preference Of FFNS vs. FPNS Completed NCT00539006 Phase 4
42 Study Of Allergic Rhinitis In Patients Who Also Have Asthma Completed NCT00296491 Phase 4
43 GSK BHR Study (Sont - Second Study) Completed NCT01324362 Phase 4
44 Study Of Asthma And Genetics In Patients To Be Treated With Fluticasone Propionate/Salmeterol Or Salmeterol Xinafoate Completed NCT00102882 Phase 4
45 Phase4/Symbicort® Versus Pulmicort Flexhaler® in African Americans Completed NCT00702325 Phase 4
46 Evaluate the Effect of Omalizumab on Markers of Asthma Impairment in Patients With Persistent Allergic Asthma Completed NCT00870584 Phase 4
47 A 12-Month Study Comparing Fluticasone Propionate/Salmeterol (ADVAIR) DISKUS Combination Product 250/50mcg Twice Daily To Fluticasone Propionate (FLOVENT) DISKUS 250 mcg Twice Daily In Symptomatic Patients With Asthma Completed NCT00452348 Phase 4
48 Patient-initiated Episodic Treatment of Recurrent Genital Herpes in Black Patients Completed NCT00477334 Phase 4
49 A Clinical Study With Fluticasone Furoate Nasal Spray And Vehicle Placebo For The Treatment Of Perennial (Year-round) Allergic Rhinitis Completed NCT00682643 Phase 4
50 A Study Evaluating the Efficacy and Impact on Health-related Quality of Life of Levocetirizine in Adults With Seasonal Allergic Rhinitis Completed NCT00621959 Phase 4

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, Kidney, Eye, Cortex, Breast, Prefrontal Cortex
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 351)
id Title Authors Year
1
A Systematic Review of the Huntington Disease-Like 2 Phenotype. ( 28339400 )
2017
2
Putaminal Hypometabolism Exceeding Caudate Abnormalities on 18F-FDG PET in Huntington Disease. ( 28418951 )
2017
3
Functional impairment of precerebral arteries in Huntington disease. ( 27817854 )
2017
4
Feasibility of computerized working memory training in individuals with Huntington disease. ( 28453532 )
2017
5
The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory. ( 28045968 )
2017
6
Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature. ( 28428907 )
2017
7
Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells. ( 28497201 )
2017
8
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
9
Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure? ( 28396959 )
2017
10
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent StemA Cells. ( 28238795 )
2017
11
Further investigation of phenotypes and confounding factors of progressive ratio performance and feeding behavior in the BACHD rat model of Huntington disease. ( 28273120 )
2017
12
Inclusions of R6/2 Mice Are Not Amyloid and Differ Structurally from Those of Huntington Disease Brain. ( 28398721 )
2017
13
Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease. ( 28175299 )
2017
14
Is mitochondrial oxidative metabolism the right therapy target in early Huntington disease? ( 27913697 )
2017
15
Presentation and care of a family with Huntington disease in a resource-limited community. ( 28413688 )
2017
16
Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts. ( 28508341 )
2017
17
Cerebellar Gray Matter Alterations in Huntington Disease: A Voxel-Based Morphometry Study. ( 28528357 )
2017
18
A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease. ( 27913695 )
2017
19
Exercise effects in Huntington disease. ( 27747393 )
2017
20
Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease. ( 28265459 )
2017
21
The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease. ( 27818324 )
2017
22
Targeting the equilibrative nucleoside transporter ENT1 in Huntington disease. ( 28179589 )
2017
23
Huntington Disease: Linking Pathogenesis to the Development of Experimental Therapeutics. ( 28265888 )
2017
24
Metoprolol-pridopidine drug-drug interaction and food effect assessments of pridopidine, a new drug for treatment of Huntington Disease. ( 28449367 )
2017
25
Huntington disease. ( 28221321 )
2017
26
Resting-state connectivity and modulated somatomotor and default-mode networks in Huntington disease. ( 28464463 )
2017
27
A liminal stage after predictive testing for Huntington disease. ( 28087720 )
2017
28
The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America. ( 28000697 )
2016
29
The Puzzle of Huntington Disease Phenocopies. ( 27399805 )
2016
30
Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease. ( 27528441 )
2016
31
New measures to capture end of life concerns in Huntington disease: Meaning and Purpose and Concern with Death and Dying from HDQLIFE (a patient-reported outcomes measurement system). ( 27393121 )
2016
32
Huntington disease: New study challenges the hypothesis of glutamate transporter dysfunction in Huntington disease. ( 27103473 )
2016
33
Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS). ( 27740685 )
2016
34
Derivation of Huntington Disease affected Genea091 human embryonic stem cell line. ( 27346013 )
2016
35
Juvenile Huntington disease in Argentina. ( 26602194 )
2016
36
Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors. ( 27103420 )
2016
37
DNA Methylation Leads to DNA Repair Gene Down-Regulation and Trinucleotide Repeat Expansion in Patient-Derived Huntington Disease Cells. ( 27182645 )
2016
38
Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial. ( 27380342 )
2016
39
Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease. ( 27126634 )
2016
40
Striatal synaptic dysfunction and altered calcium regulation in Huntington disease. ( 27423394 )
2016
41
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. ( 26849111 )
2016
42
HDQLIFE: the development of two new computer adaptive tests for use in Huntington disease, Speech Difficulties, and Swallowing Difficulties. ( 27038054 )
2016
43
Possible role of mitochondrial permeability transition pore in the pathogenesis of Huntington disease. ( 27638306 )
2016
44
Two different phenomena in basic motor speech performance in premanifest Huntington disease. ( 27872224 )
2016
45
The development of a new computer adaptive test to evaluate chorea in Huntington disease: HDQLIFE Chorea. ( 27141833 )
2016
46
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. ( 27400454 )
2016
47
Activation of AMPK-induced autophagy ameliorates Huntington disease pathology inA vitro. ( 27133377 )
2016
48
Subcellular Clearance and Accumulation of Huntington Disease Protein: A Mini-Review. ( 27147961 )
2016
49
Motor-cognitive dual-task deficits in individuals with early-mid stage Huntington disease. ( 27474949 )
2016
50
Huntington disease: Selective deactivation of Huntington disease mutant allele by CRISPR-Cas9 gene editing. ( 27686048 )
2016

Variations for Huntington Disease

UniProtKB/Swiss-Prot genetic disease variations for Huntington Disease:

66
id Symbol AA change Variation ID SNP ID
1 TBX18 p.Lys163Glu VAR_074629 rs797045022
2 TBX18 p.His524Tyr VAR_074631 rs760905589

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 14)
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
Show member pathways
12.29 CASP3 CASP8 CREB1 CREBBP
4 12.28 CALB1 CREB1 GRIN2B HTT PRNP
5
Show member pathways
12.08 BDNF CREB1 CREBBP GRIN2B
6 12.01 CASP3 CASP8 CREB1 CREBBP
7 11.96 CASP3 CASP8 CREB1 CREBBP TBP
8 11.92 BDNF CASP3 CREB1 CREBBP
9 11.78 BDNF CASP3 CREB1 GRIN2B
10 11.75 CASP3 CASP8 CREB1
11 11.6 CREB1 CREBBP TBP
12 11.34 CREB1 CREBBP SLC2A3
13 10.49 CREBBP TBP
14 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:

id Name GO ID Score Top Affiliating Genes
1 apoptotic signaling pathway GO:0097190 9.58 CASP3 CASP8 HIP1
2 regulation of apoptotic process GO:0042981 9.55 CASP8 CREB1 CREBBP HIP1 IFT57
3 neurotrophin TRK receptor signaling pathway GO:0048011 9.46 CASP3 HAP1
4 vesicle transport along microtubule GO:0047496 9.43 HAP1 HTT
5 negative regulation of activated T cell proliferation GO:0046007 9.37 CASP3 PRNP
6 response to cobalt ion GO:0032025 9.32 CASP3 CASP8
7 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0031587 9.26 HAP1 HTT
8 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP3 CASP8 HIP1 IFT57
9 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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