Huntington's Disease (HD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Huntington's Disease

About this section

NINDS:43 Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. HD is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an HD parent 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 cannot pass it to subsequent generations. A person who inherits the HD gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene. Some early symptoms of HD are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing. The rate of disease progression and the age of onset vary from person to person. A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose HD. Presymptomic testing is available for individuals who are at risk for carrying the HD gene. In 1 to 3 percent of individuals with HD, no family history of HD can be found.

MalaCards based summary: Huntington's Disease, also known as huntington disease, is related to motor neuron disease and spinocerebellar ataxia, and has symptoms including behavioral abnormality, hypertonia and abnormality of the voice. An important gene associated with Huntington's Disease is HTT (huntingtin), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Apoptotic Pathways in Synovial Fibroblasts. The drugs baclofen and coenzyme q10 and the compounds it 15 and axokine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related mouse phenotypes are taste/olfaction and no phenotypic analysis.

Disease Ontology:9 A neurodegenerative disease and an autosomal dominant disease that 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:22 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

NIH Rare Diseases:42 Huntington disease is a progressive disorder that causes brain cell (neuron) degeneration in certain areas of the brain.  this results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. symptoms typically appear between the ages of 35 and 44 years. people with huntington disease most often live for 15 to 18 years after the condition appears. huntington disease caused by mutations in the htt gene and is inherited in an autosomal dominant manner. each child of a person with huntington disease has a 50 percent (1 in 2) chance of inheriting the mutation. there is also a less common, early-onset from that begins in childhood or adolescence, called juvenile huntington disease. last updated: 6/27/2011

OMIM:46 Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype... (143100) more...

MedlinePlus:33 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

Wikipedia:64 Huntington\'s disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and... more...

GeneReviews summary for huntington

Aliases & Classifications for Huntington's Disease

About this section
31LifeMap Discovery®, 9Disease Ontology, 64Wikipedia, 42NIH Rare Diseases, 22Genetics Home Reference, 43NINDS, 33MedlinePlus, 10diseasecard, 20GeneReviews, 21GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 23GTR, 11DISEASES, 28ICD9CM, 34MeSH, 56SNOMED-CT, 39NCIt, 62UMLS via Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet, 26ICD10
See all sources

Huntington's Disease, Aliases & Descriptions:

Name: Huntington's Disease 31 9 64 42 22 43 33
Huntington Disease 9 10 20 42 21 22 46 44 48 61
Huntington Chorea 20 23 22 48
Huntington's Chorea 9 42 22
Huntington Chronic Progressive Hereditary Chorea 22 61
Juvenile Huntington Disease 48 61
Juvenile Huntington Chorea 48 61
Hd 9 42
Progressive Chorea, Chronic Hereditary 64
Huntingtons Disease 11
Jhd 48


Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases

Characteristics (Orphanet epidemiological data):

huntington disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age
juvenile huntington disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood

External Ids:

Disease Ontology9 DOID:12858
ICD9CM28 333.4
MeSH34 D006816
NCIt39 C82342
OMIM46 143100
SNOMED-CT56 155006000, 58756001
UMLS via Orphanet62 C0020179, C0751208
MESH via Orphanet35 D006816
ICD10 via Orphanet27 G10
ICD1026 G10

Related Diseases for Huntington's Disease

About this section

Diseases in the Huntington's Disease family:

Huntington Disease-Like 2 Juvenile Huntington Disease
Huntington Disease-Like 1 Huntington Disease-Like Syndrome
Huntington Disease-Like 3 Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Diseases related to Huntington's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1motor neuron disease30.9HTT, CNTF, BDNF
2spinocerebellar ataxia30.7ATN1, PRNP, HTT, TBP
3machado-joseph disease30.6TBP, HTT, ATN1
4memory impairment30.6PRNP, CNR1, CALB1, BDNF
5prion disease30.5PRNP, HTT, CNR1, BDNF
6spinocerebellar ataxia type 1730.5TBP, ATN1, JPH3
7dentatorubral-pallidoluysian atrophy30.5JPH3, ATN1, HTT, TBP
8schizophrenia30.5ATN1, HCRT, CNR1, CNTF, CALB1, TBP
9ischemia30.4BLVRB, HCRT, KMO, CNR1, CNTF, CASP1
10dementia30.3HAP1, HCRT, PRNP, HTT, TBP, BDNF
11breast cancer29.8PFN1, HTT, CNR1, CASP8, CASP1, SLC2A3
12huntington disease-like 210.5
13parkinson's disease10.5BDNF, CNR1
14cannabis dependence10.5CNR1
15olivopontocerebellar atrophy10.5ATN1, HTT
16temporal lobe epilepsy10.5PRNP, CALB1, BDNF
17toxic encephalopathy10.5PRNP, HTT, BDNF
18neuroblastoma10.5BDNF, PRNP
19status epilepticus10.5BDNF, CNR1
20obsessive-compulsive disorder10.4BDNF
21hereditary ataxia10.4ATN1, TBP
22spinocerebellar ataxia type 1210.4ATN1, PRNP, TBP
23eating disorder10.4HCRT, CNR1, BDNF
24psychotic disorder10.4CNR1, CNTF, BDNF
25progressive supranuclear palsy10.4HCRT, PRNP
26anorexia nervosa10.4BDNF, CNR1, HCRT
27drug addiction10.4HCRT, BDNF
28encephalitis10.4CNR1, CNTF, CALB1
29mood disorder10.4HCRT, CNR1, BDNF
30bipolar disorder10.4CNR1, CALB1, BDNF
31cowpox10.4CASP1, CASP8
32herpes simplex10.4CASP1, CALB1, TBP, BDNF
33central nervous system disease10.4HCRT, CNR1, CNTF, BDNF
34huntington disease-like 110.3
35cerebrovascular disease10.3CASP1, CNTF, CNR1, PRNP
36epilepsy syndrome10.3BLVRB, PRNP, CNR1, CALB1, BDNF
37cholera10.3BLVRB, PRNP, CNR1
38demyelinating disease10.3CNTF, HCRT
39huntington disease-like 310.3
40huntington disease-like syndrome due to c9orf72 expansions10.3
41sensory peripheral neuropathy10.3CNTF, BDNF
42juvenile huntington disease10.3
43ipex syndrome10.3BLVRB, PRNP, CNTF, CALB1, TBP
44hypoglycemia10.2HCRT, BDNF, SLC2A3
45amyotrophic lateral sclerosis type 1410.2BLVRB, PRNP, HTT, CNR1, CNTF, CASP1
47brain cancer10.2HCRT, CNTF, CASP8, SLC2A3
48astrocytoma10.2PRNP, CNR1, CASP8, SLC2A3
49multiple sclerosis10.2BLVRB, HCRT, CNR1, CNTF, CASP8, CASP1
50fragile x syndrome10.2

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

Diseases related to huntington's disease

Symptoms for Huntington's Disease

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 8)
  • abnormal cry/voice/phonation disorder/nasal speech
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • eeg anomalies
  • movement disorder
  • hypertonia/spasticity/rigidity/stiffness
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • autosomal dominant inheritance

HPO human phenotypes related to Huntington's Disease:

(show all 18)
id Description Frequency HPO Source Accession
1 behavioral abnormality typical (50%) HP:0000708
2 hypertonia typical (50%) HP:0001276
3 abnormality of the voice typical (50%) HP:0001608
4 cerebral cortical atrophy typical (50%) HP:0002120
5 eeg abnormality typical (50%) HP:0002353
6 developmental regression typical (50%) HP:0002376
7 abnormality of movement typical (50%) HP:0100022
8 autosomal dominant inheritance HP:0000006
9 abnormality of eye movement HP:0000496
10 depression HP:0000716
11 dementia HP:0000726
12 personality changes HP:0000751
13 hyperreflexia HP:0001347
14 rigidity HP:0002063
15 bradykinesia HP:0002067
16 chorea HP:0002072
17 gliosis HP:0002171
18 neuronal loss in central nervous system HP:0002529

Drugs & Therapeutics for Huntington's Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Huntington's Disease

Search NIH Clinical Center for Huntington's Disease

Inferred drug relations via UMLS61/NDF-RT40:

Cell-based therapeutics:

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Huntington's Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Huntington's Disease:
Embryonic stem cell-derived GABA progenitor cells for treatment of Huntington's disease
Embryonic/Adult Cultured Cells Related to Huntington's Disease:
Lateral Ganglionic Eminence progenitors, PMID: 22424902

Genetic Tests for Huntington's Disease

About this section

Genetic tests related to Huntington's Disease:

id Genetic test Affiliating Genes
1 Huntington Disease21 HTT
2 Huntington's Chorea23

Anatomical Context for Huntington's Disease

About this section

MalaCards organs/tissues related to Huntington's Disease:

Brain, Testes, Cortex, Prefrontal cortex, Breast, Globus pallidus, Caudate nucleus, Heart, Skeletal muscle, Thyroid, Skin, Eye, Cerebellum, Pons, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Huntington's Disease:
id TissueAnatomical CompartmentCell Relevance
1 BrainStriatum  Affected by disease

Animal Models for Huntington's Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Huntington's Disease:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.1BDNF, CNR1, HTT
2MP:00030129.6ATN1, PRNP, HTT, CNR1, CNTF, TBP
3MP:00053899.5JPH3, SLC2A3, BDNF, CASP1, CNR1, HTT
4MP:00028739.5CNR1, SETDB1, BDNF, HTT, ATN1, PFN1
5MP:00107719.4PFN1, HTT, CNR1, CASP8, CASP1, BDNF
6MP:00053849.3BDNF, CASP1, CASP8, CNTF, CNR1, HTT
7MP:00053809.2HAP1, SLC2A3, TBP, CASP8, HTT, PFN1
8MP:00053789.0PRNP, PFN1, HCRT, HAP1, JPH3, ATN1
9MP:00053869.0BDNF, HCRT, ATN1, PFN1, PRNP, HTT
10MP:00053769.0SLC2A3, HAP1, CASP8, CNR1, HTT, CASP1
11MP:00107688.9TBP, CASP1, CASP8, CNR1, PRNP, SLC2A3
12MP:00036318.6CNTF, CASP8, CASP1, CALB1, BDNF, SLC2A3

Publications for Huntington's Disease

About this section

Articles related to Huntington's Disease:

(show top 50)    (show all 1108)
Sexually dimorphic dopaminergic dysfunction in a transgenic mouse model of Huntington's disease. (25316307)
Physical therapy in Huntington's disease--toward objective assessments? (22672573)
Differential effects of early environmental enrichment on emotionality related behaviours in Huntington's disease transgenic mice. (23045340)
Oral and dental health in Huntington's disease - an observational study. (24138900)
Huntington's disease gene expansion associates with early onset nonprogressive chorea. (23536475)
Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records. (23482661)
Multiple Aspects of Gene Dysregulation in Huntington's Disease. (24167500)
Expression of genes encoding the calcium signalosome in cellular and transgenic models of Huntington's disease. (24324398)
The pridopidine paradox in Huntington's disease. (23847099)
Oxidative stress causes DNA triplet expansion in Huntington's disease mouse embryonic stem cells. (24041806)
Dose-dependent neuroprotection of VEGFa88a88a88 in Huntington's disease striatum. (23799534)
Functional magnetic resonance imaging of working memory in Huntington's disease: Cross-sectional data from the IMAGE-HD study. (23913754)
Cognitive reserve and brain reserve in prodromal Huntington's Disease. (23702309)
Noninvasive brain stimulation in Huntington's disease. (24112923)
Neuroprotective effects of PPAR-I^ agonist rosiglitazone in N171-82Q mouse model of Huntington's disease. (23373812)
Rab11 rescues synaptic dysfunction and behavioural deficits in a Drosophila model of Huntington's disease. (22466800)
High-Throughput Multiplexed Quantitation of Protein Aggregation and Cytotoxicity in a Huntington's Disease Model. (23346268)
Network methods for describing sample relationships in genomic datasets: application to Huntington's disease. (22691535)
Echolalia or functional repetition in conversation--a case study of an individual with Huntington's disease. (20831380)
Spermine improves recognition memory deficit in a rodent model of Huntington's disease. (19632348)
Neuroprotective effects of inositol 1,4,5-trisphosphate receptor C-terminal fragment in a Huntington's disease mouse model. (19193873)
Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease. (18558632)
AKT-sensitive or insensitive pathways of toxicity in glial cells and neurons in Drosophila models of Huntington's disease. (18065778)
Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. (18192679)
Early cognitive deficits in Swedish gene carriers of Huntington's disease. (17201528)
Hsp27 overexpression in the R6/2 mouse model of Huntington's disease: chronic neurodegeneration does not induce Hsp27 activation. (17360721)
Reduced expression of the TrkB receptor in Huntington's disease mouse models and in human brain. (16487146)
Short G-rich oligonucleotides as a potential therapeutic for Huntington's Disease. (17014717)
Purification of neuronal inclusions of patients with Huntington's disease reveals a broad range of N-terminal fragments of expanded huntingtin and insoluble polymers. (16181417)
Normal hypocretin-1 (orexin-A) levels in the cerebrospinal fluid of patients with Huntington's disease. (16263095)
Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing. (15716522)
Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease. (15548484)
The endocannabinoid system and Huntington's disease. (14529364)
Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease. (11870213)
CAG mutation effect on rate of progression in Huntington's disease. (12548366)
Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease. (12165556)
Glycogen synthase kinase-3beta inhibitors prevent cellular polyglutamine toxicity caused by the Huntington's disease mutation. (12097329)
Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. (11988536)
Wild-type huntingtin up-regulates BDNF transcription in Huntington's disease. (11697536)
Benzodiazepine receptor quantification in Huntington's disease with [(123)I]omazenil and SPECT. (11309461)
The early cellular pathology of Huntington's disease. (10966117)
Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin. (10434304)
Huntington aggregates may not predict neuronal death in Huntington's disease. (10589536)
The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3. (9734812)
A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population. (8162020)
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. (7951324)
A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. (8366869)
Brain muscarinic cholinergic receptors in Huntington's disease. (1532417)
The psychopathology of Huntington's disease. (1825887)
Synaptophysin expression in the striatum in Huntington's disease. (2141751)

Variations for Huntington's Disease

About this section

Clinvar genetic disease variations for Huntington's Disease:

id Gene Name Type Significance SNP ID Assembly Location
1HTTNM_002111.6(HTT)NT expansionPathogenicrs193922950GRCh37Chr 4, 3076603: 3076660
2HTTNM_002111.6(HTT)NT expansionPathogenicrs193922951GRCh37Chr 4, 3076603: 3076660
3HTTNP_002102.4: p.Gln40(41_?)indelPathogenicGRCh37Chr 4, 3076604: 3076660

Expression for genes affiliated with Huntington's Disease

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Huntington's Disease patients vs. healthy controls: 31 (show all 255)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1ZNF267zinc finger protein 267Blood+3.440.000
2CHMP5charged multivesicular body protein 5Blood+3.360.000
3C12orf29chromosome 12 open reading frame 29Blood+3.240.000
4ATF1activating transcription factor 1Blood+3.230.000
5PIKFYVEphosphoinositide kinase, FYVE finger containingBlood+3.180.000
6EID1EP300 interacting inhibitor of differentiation 1Blood+3.080.000
7STAM2signal transducing adaptor molecule (SH3 domain and ITAM motif) 2Blood+3.070.000
9UFL1UFM1-specific ligase 1Blood+3.020.000
10SUB1SUB1 homolog (S. cerevisiae)Blood+3.000.000
11ANKRD12ankyrin repeat domain 12Blood+3.000.000
12RPS7ribosomal protein S7Blood+2.960.000
14ZDHHC17zinc finger, DHHC-type containing 17Blood+2.890.000
15PPP1R12Aprotein phosphatase 1, regulatory subunit 12ABlood+2.880.000
16ZNF107zinc finger protein 107Blood+2.860.000
17ADAM10ADAM metallopeptidase domain 10Blood+2.860.000
18TMEM168transmembrane protein 168Blood+2.820.000
19PHTF2putative homeodomain transcription factor 2Blood+2.800.000
20MOB1AMOB kinase activator 1ABlood+2.780.000
21PMAIP1phorbol-12-myristate-13-acetate-induced protein 1Blood+2.780.001
22SP3Sp3 transcription factorBlood+2.770.000
23OSBPL8oxysterol binding protein-like 8Blood+2.770.001
24CHMP2Bcharged multivesicular body protein 2BBlood+2.750.000
25PSMC6proteasome (prosome, macropain) 26S subunit, ATPase, 6Blood+2.740.000
26PRPF4Bpre-mRNA processing factor 4BBlood+2.710.000
27EVI2Aecotropic viral integration site 2ABlood+2.700.000
28RB1retinoblastoma 1Blood+2.680.000
29NETO1neuropilin (NRP) and tolloid (TLL)-like 1Brain-2.670.001
30EDEM3ER degradation enhancer, mannosidase alpha-like 3Blood+2.650.000
31KCNA1potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)Brain-2.650.003
32LRRC40leucine rich repeat containing 40Blood+2.640.000
33CSGALNACT2chondroitin sulfate N-acetylgalactosaminyltransferase 2Blood+2.640.000
34TMED7transmembrane emp24 protein transport domain containing 7Blood+2.640.000
35FAM188Afamily with sequence similarity 188, member ABlood+2.620.000
36ATF2activating transcription factor 2Blood+2.620.000
37ASF1Aanti-silencing function 1A histone chaperoneBlood+2.620.000
38DMXL1Dmx-like 1Blood+2.600.003
39CBX3chromobox homolog 3Blood+2.600.001
40HLA-DQB1major histocompatibility complex, class II, DQ beta 1Blood-2.600.026
41PHIPpleckstrin homology domain interacting proteinBlood+2.590.000
42MBNL1muscleblind-like splicing regulator 1Blood+2.580.000
43MOB4MOB family member 4, phoceinBlood+2.570.002
44C2CD5C2 calcium-dependent domain containing 5Blood+2.560.000
45SH2D1ASH2 domain containing 1ABlood+2.550.001
46HNMThistamine N-methyltransferaseBlood+2.540.000
47ACSL4acyl-CoA synthetase long-chain family member 4Blood+2.530.003
48QKIQKI, KH domain containing, RNA bindingBlood+2.530.001
49AHRaryl hydrocarbon receptorBlood+2.520.001
51GOLGA8Hgolgin A8 family, member HBlood+2.510.000
52MBNL2muscleblind-like splicing regulator 2Blood+2.510.000
53ABHD3abhydrolase domain containing 3Blood+2.500.000
54DR1down-regulator of transcription 1, TBP-binding (negative cofactor 2)Blood+2.490.000
55ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)Blood+2.490.003
56MYBL1v-myb avian myeloblastosis viral oncogene homolog-like 1Blood+2.490.000
57KCNIP2Kv channel interacting protein 2Brain-2.480.001
58ATP8A1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1Blood+2.480.000
59ARGLU1arginine and glutamate rich 1Blood+2.480.000
60TRMT13tRNA methyltransferase 13 homolog (S. cerevisiae)Blood+2.480.001
61COX7Bcytochrome c oxidase subunit VIIbBlood+2.470.002
62PKN2protein kinase N2Blood+2.470.000
63PPIP5K2diphosphoinositol pentakisphosphate kinase 2Blood+2.450.000
64C6orf211chromosome 6 open reading frame 211Blood+2.440.001
65MAN1A1mannosidase, alpha, class 1A, member 1Blood+2.430.001
66NEK7NIMA-related kinase 7Blood+2.430.000
67RAP2CRAP2C, member of RAS oncogene familyBlood+2.420.002
68SMARCA5SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5Blood+2.420.004
69NAB1NGFI-A binding protein 1 (EGR1 binding protein 1)Blood+2.420.000
70BAZ2Bbromodomain adjacent to zinc finger domain, 2BBlood+2.410.002
71CD46CD46 molecule, complement regulatory proteinBlood+2.400.001
73CCPG1cell cycle progression 1Blood+2.390.003
74PNISRPNN-interacting serine/arginine-rich proteinBlood+2.390.000
75LTN1listerin E3 ubiquitin protein ligase 1Blood+2.380.003
76HINT1histidine triad nucleotide binding protein 1Blood+2.370.002
77PLSCR1phospholipid scramblase 1Blood+2.370.008
78ALG13ALG13, UDP-N-acetylglucosaminyltransferase subunitBlood+2.360.001
79HTR45-hydroxytryptamine (serotonin) receptor 4, G protein-coupledBrain-2.360.018
80SLC25A24solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24Blood+2.350.002
81ZNF83zinc finger protein 83Blood+2.350.007
82ARID4AAT rich interactive domain 4A (RBP1-like)Blood+2.350.000
83PCNPPEST proteolytic signal containing nuclear proteinBlood+2.340.000
85ZFYVE16zinc finger, FYVE domain containing 16Blood+2.340.002
86CEP57centrosomal protein 57kDaBlood+2.330.005
87MARCH7membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligaseBlood+2.330.000
88SLC5A3solute carrier family 5 (sodium/myo-inositol cotransporter), member 3Brain+2.310.003
89MAP4K3mitogen-activated protein kinase kinase kinase kinase 3Blood+2.310.013
90CEP135centrosomal protein 135kDaBlood+2.300.000
91CASP3caspase 3, apoptosis-related cysteine peptidaseBlood+2.300.000
92NDUFA4NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDaBlood+2.290.010
93RBM25RNA binding motif protein 25Blood+2.290.000
94TVP23Btrans-golgi network vesicle protein 23 homolog B (S. cerevisiae)Blood+2.290.005
95RPL9ribosomal protein L9Blood+2.290.000
96TANKTRAF family member-associated NFKB activatorBlood+2.290.002
97SACM1LSAC1 suppressor of actin mutations 1-like (yeast)Blood+2.280.000
98BMI1BMI1 polycomb ring finger oncogeneBlood+2.280.002
99HLA-DQA1major histocompatibility complex, class II, DQ alpha 1Blood-2.280.026
100EGR2early growth response 2Brain-2.280.007
101DEKDEK oncogeneBlood+2.270.000
102ATP2B1ATPase, Ca++ transporting, plasma membrane 1Blood+2.260.002
103SNX10sorting nexin 10Blood+2.260.001
104TRAPPC10trafficking protein particle complex 10Blood+2.260.003
105NAMPTnicotinamide phosphoribosyltransferaseBlood+2.260.000
106RBM15RNA binding motif protein 15Blood+2.250.001
107PPP1CBprotein phosphatase 1, catalytic subunit, beta isozymeBlood+2.240.000
108CMPK1cytidine monophosphate (UMP-CMP) kinase 1, cytosolicBlood+2.230.000
109NPYneuropeptide YBrain-2.230.002
110COPS2COP9 signalosome subunit 2Blood+2.230.000
111COMMD8COMM domain containing 8Blood+2.210.005
112ANP32Eacidic (leucine-rich) nuclear phosphoprotein 32 family, member EBlood+2.210.000
113CLEC2BC-type lectin domain family 2, member BBlood+2.210.002
114CREBZFCREB/ATF bZIP transcription factorBlood+2.210.000
115TIA1TIA1 cytotoxic granule-associated RNA binding proteinBlood+2.200.001
116SEC23ASec23 homolog A (S. cerevisiae)Blood+2.200.001
117IL8interleukin 8Blood+2.190.005
118RNF138ring finger protein 138, E3 ubiquitin protein ligaseBlood+2.190.002
119RNF6ring finger protein (C3H2C3 type) 6Blood+2.190.003
120ANKRD49ankyrin repeat domain 49Blood+2.190.000
121UBR5ubiquitin protein ligase E3 component n-recognin 5Blood+2.190.012
123IRAK3interleukin-1 receptor-associated kinase 3Blood+2.180.011
124SLC35A1solute carrier family 35 (CMP-sialic acid transporter), member A1Blood+2.180.000
125OXR1oxidation resistance 1Blood+2.180.015
126NOL8nucleolar protein 8Blood+2.170.010
127RPS3Aribosomal protein S3ABlood+2.170.001
128GKglycerol kinaseBlood+2.160.001
129MTHFD2methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolaseBlood+2.160.003
130NRIP1nuclear receptor interacting protein 1Blood+2.160.003
131MEF2Amyocyte enhancer factor 2ABlood+2.160.002
132IFRD1interferon-related developmental regulator 1Blood+2.150.001
133DKK2dickkopf WNT signaling pathway inhibitor 2Blood-2.150.028
134TMEM165transmembrane protein 165Blood+2.150.002
135TAF1DTATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDaBlood+2.140.004
136SRSF11serine/arginine-rich splicing factor 11Blood+2.140.002
137MICU2mitochondrial calcium uptake 2Blood+2.140.000
138CCP110centriolar coiled coil protein 110kDaBlood+2.130.004
139KRIT1KRIT1, ankyrin repeat containingBlood+2.130.009
140TMED2transmembrane emp24 domain trafficking protein 2Blood+2.130.006
141GNG10guanine nucleotide binding protein (G protein), gamma 10Blood+2.130.001
142ARID1AAT rich interactive domain 1A (SWI-like)Blood-2.130.001
143HAT1histone acetyltransferase 1Blood+2.130.013
144PRKCIprotein kinase C, iotaBlood+2.130.002
145CLDND1claudin domain containing 1Blood+2.120.001
146SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1Blood+2.110.000
147NRGNneurogranin (protein kinase C substrate, RC3)Brain-2.110.011
148LBRlamin B receptorBlood+2.110.000
149LAMP5lysosomal-associated membrane protein family, member 5Brain-2.100.024
150NUDT11nudix (nucleoside diphosphate linked moiety X)-type motif 11Brain-2.100.024
151ERBB2IPerbb2 interacting proteinBlood+2.100.004
152AIMP1aminoacyl tRNA synthetase complex-interacting multifunctional protein 1Blood+2.090.002
153MATR3matrin 3Blood+2.090.000
154SLC35A5solute carrier family 35, member A5Blood+2.090.005
156TWF1twinfilin actin-binding protein 1Blood+2.080.004
157PELI1pellino E3 ubiquitin protein ligase 1Blood+2.080.000
158UBE2Oubiquitin-conjugating enzyme E2OBlood-2.070.005
159CLINT1clathrin interactor 1Blood+2.070.001
160CAPZA2capping protein (actin filament) muscle Z-line, alpha 2Blood+2.070.002
161MIA3melanoma inhibitory activity family, member 3Blood+2.060.007
162TNPO1transportin 1Blood+2.060.002
163RAB2ARAB2A, member RAS oncogene familyBlood+2.060.005
164FNDC3Afibronectin type III domain containing 3ABlood+2.060.000
165SRSF10serine/arginine-rich splicing factor 10Blood+2.060.017
166PPIGpeptidylprolyl isomerase G (cyclophilin G)Blood+2.060.008
167CRKv-crk avian sarcoma virus CT10 oncogene homologBlood+2.060.001
168ERAP1endoplasmic reticulum aminopeptidase 1Blood+2.050.014
169FMR1fragile X mental retardation 1Blood+2.050.000
170CDC14Acell division cycle 14ABlood+2.050.018
171ACTR6ARP6 actin-related protein 6 homolog (yeast)Blood+2.050.025
172PICALMphosphatidylinositol binding clathrin assembly proteinBlood+2.050.009
173TMEM123transmembrane protein 123Blood+2.040.000
174COL8A1collagen, type VIII, alpha 1Brain+2.040.017
175ZNF518Azinc finger protein 518ABlood+2.040.019
176ST3GAL6ST3 beta-galactoside alpha-2,3-sialyltransferase 6Blood+2.040.012
177EPHX4epoxide hydrolase 4Brain-2.040.004
178ERGIC2ERGIC and golgi 2Blood+2.030.006
179RANBP2RAN binding protein 2Blood+2.020.032
180KRCC1lysine-rich coiled-coil 1Blood+2.020.000
181STK3serine/threonine kinase 3Blood+2.020.020
183UBA3ubiquitin-like modifier activating enzyme 3Blood+2.020.001
184CDC73cell division cycle 73Blood+2.010.021
185KCNG3potassium voltage-gated channel, subfamily G, member 3Brain-2.010.042
186ACAP2ArfGAP with coiled-coil, ankyrin repeat and PH domains 2Blood+2.010.001
187CD2APCD2-associated proteinBlood+2.010.007
188BUB3BUB3 mitotic checkpoint proteinBlood+2.010.002
189CD47CD47 moleculeBlood+2.000.041
190RPL17ribosomal protein L17Blood+2.000.001
191KLF9Kruppel-like factor 9Blood+1.990.031
192DDX50DEAD (Asp-Glu-Ala-Asp) box polypeptide 50Blood+1.990.005
193C1DC1D nuclear receptor corepressorBlood+1.990.011
194RAB11FIP2RAB11 family interacting protein 2 (class I)Blood+1.990.011
195BBS10Bardet-Biedl syndrome 10Blood+1.990.034
196CD58CD58 moleculeBlood+1.990.010
197ITSN2intersectin 2Blood+1.980.000
198TAB2TGF-beta activated kinase 1/MAP3K7 binding protein 2Blood+1.980.003
199NUPL1nucleoporin like 1Blood+1.980.029
200ADD3adducin 3 (gamma)Blood+1.980.000
201MST4serine/threonine protein kinase MST4Blood+1.980.000
202BAZ1Abromodomain adjacent to zinc finger domain, 1ABlood+1.980.003
203SLC38A2solute carrier family 38, member 2Blood+1.980.000
204IGJimmunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptidesBlood+1.970.003
205KIF2Akinesin heavy chain member 2ABlood+1.970.001
206IMPA1inositol(myo)-1(or 4)-monophosphatase 1Blood+1.970.003
207CCNT2cyclin T2Blood+1.970.005
208IL6STinterleukin 6 signal transducer (gp130, oncostatin M receptor)Blood+1.960.000
209ROCK1Rho-associated, coiled-coil containing protein kinase 1Blood+1.960.000
210CBR4carbonyl reductase 4Blood+1.950.000
211PDZD8PDZ domain containing 8Blood+1.950.007
212AGLamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseBlood+1.940.003
213PDE8Aphosphodiesterase 8ABlood+1.940.001
214LYPLA1lysophospholipase IBlood+1.940.000
215PCP4Purkinje cell protein 4Brain-1.940.008
216NR3C1nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)Blood+1.930.006
217PCMTD2protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2Blood+1.930.008
218CUL4Bcullin 4BBlood+1.930.005
219DCHS1dachsous cadherin-related 1Blood-1.930.013
220SLMO2slowmo homolog 2 (Drosophila)Blood+1.930.007
221YIPF4Yip1 domain family, member 4Blood+1.930.036
222RNF13ring finger protein 13Blood+1.930.001
223TECRtrans-2,3-enoyl-CoA reductaseBlood-1.930.003
224GPR61G protein-coupled receptor 61Brain-1.910.006
225SLC14A1solute carrier family 14 (urea transporter), member 1 (Kidd blood group)Brain+1.900.023
226CNTN6contactin 6Blood-1.860.012
227FKBP8FK506 binding protein 8, 38kDaBlood-1.840.028
228ENTPD2ectonucleoside triphosphate diphosphohydrolase 2Brain+1.840.011
229ZNF652zinc finger protein 652Blood-1.830.012
230ANK1ankyrin 1, erythrocyticBlood-1.830.044
231BEX5brain expressed, X-linked 5Brain-1.820.016
232RGS10regulator of G-protein signaling 10Blood-1.810.016
233SLC17A6solute carrier family 17 (vesicular glutamate transporter), member 6Brain+1.810.037
234NENFneudesin neurotrophic factorBlood-1.810.015
235SYCE1synaptonemal complex central element protein 1Brain-1.800.027
236CDH8cadherin 8, type 2Brain-1.790.010
237ADRA2Aadrenoceptor alpha 2ABlood-1.780.026
238IGF1Rinsulin-like growth factor 1 receptorBlood-1.770.041
239AKAP13A kinase (PRKA) anchor protein 13Blood-1.770.034
240FRMPD2FERM and PDZ domain containing 2Brain+1.720.017
241ZIC4Zic family member 4Blood-1.710.013
242GRM8glutamate receptor, metabotropic 8Brain-1.690.004
243DNAJB2DnaJ (Hsp40) homolog, subfamily B, member 2Blood-1.680.030
244APBA1amyloid beta (A4) precursor protein-binding, family A, member 1Blood-1.670.027
245SLITRK3SLIT and NTRK-like family, member 3Brain-1.640.031
246ATP2B3ATPase, Ca++ transporting, plasma membrane 3Brain-1.580.039
247RASGRP2RAS guanyl releasing protein 2 (calcium and DAG-regulated)Brain-1.570.006
248DDX24DEAD (Asp-Glu-Ala-Asp) box helicase 24Blood-1.550.049
249LRRC17leucine rich repeat containing 17Blood-1.540.045
250RPL14ribosomal protein L14Blood-1.500.029
251LEPREL1leprecan-like 1Brain+1.500.009
252CGREF1cell growth regulator with EF-hand domain 1Brain-1.480.033
253ABI3BPABI family, member 3 (NESH) binding proteinBrain+1.470.012
254GALMgalactose mutarotase (aldose 1-epimerase)Brain+1.430.025
255TOMM70Atranslocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)Brain-1.420.035

Expression patterns in normal tissues for genes affiliated with Huntington's Disease

Search GEO for disease gene expression data for Huntington's Disease.

Pathways for genes affiliated with Huntington's Disease

About this section

Compounds for genes affiliated with Huntington's Disease

About this section

Compounds related to Huntington's Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1it 154410.5JPH3, HTT, ATN1
2axokine4410.5CNTF, CNR1, BDNF
3cystamine4410.4HTT, BDNF
4methamphetamine44 50 1212.3BDNF, CALB1, CNTF
5quinine44 29 3 50 1214.3BDNF, BLVRB, KMO
6amphetamine44 50 1212.3CNR1, HCRT, CNTF
7tetrodotoxin44 60 2912.2CNR1, HCRT, BDNF, CALB1
8cocaine44 1211.2CNTF, BDNF, CNR1, HCRT
9catecholamine4410.2CNTF, BDNF, HCRT, BLVRB
10glyceraldehyde 3-phosphate4410.2TBP, PFN1, ATN1, HTT
11n-acetylaspartate4410.2CALB1, BDNF
12thapsigargin44 6011.2CASP1, CASP8, HCRT, CNR1, BDNF
13choline44 25 1212.1BLVRB, CALB1, BDNF, CNTF
14proline4410.1HTT, TBP, BDNF, PRNP, PFN1
15formaldehyde44 2511.1BLVRB, CALB1, TBP, PRNP
16kainate44 2911.1BLVRB, CALB1, HTT, BDNF, CNR1
17ethanol44 50 25 1213.1BLVRB, HCRT, CASP1, BDNF, SLC2A3
18n acetylcysteine4410.1CASP1, CASP8, CNTF, BDNF
19histamine44 29 2512.1HCRT, CNR1, CNTF, BDNF, CASP1
20melatonin44 29 60 25 1214.1HTT, HCRT, BDNF
21octadecaneuropeptide4410.0CNTF, HCRT
22glutamine4410.0ATN1, HTT, CASP1, HAP1, TBP
23cycloheximide4410.0CNTF, CASP8, CASP1, BDNF, SLC2A3
24iron44 2511.0HTT, BLVRB, PRNP, TBP, BDNF
25norepinephrine44 25 1212.0CALB1, CNTF, CNR1, HCRT, BDNF
26superoxide44 2511.0BLVRB, CASP1, CASP8, CNTF, HTT, PRNP
27histidine4410.0PRNP, CASP1, TBP, CNTF
283-nitropropionic acid449.9BDNF, HTT
29h2o2449.9CNTF, CASP8, CASP1, BDNF, PRNP
30cyclic amp44 2510.9TBP, CNTF, CNR1, HCRT, BDNF
32acetylcholine44 50 29 25 1213.9BLVRB, CNTF, CNR1, BDNF, CALB1, HCRT
33adenylate449.9CNTF, CNR1, TBP, HCRT, BDNF, BLVRB
34alanine449.8CNTF, CASP8, TBP, CNR1, HTT, PRNP
35retinoic acid44 2510.8HTT, BDNF, CASP1, CASP8, CNTF, CALB1
36quinolinic acid44 2510.8BDNF, CALB1, CNTF, HTT, KMO, HCRT
37cysteine449.8CASP1, ATN1, HTT, CNR1, CASP8, TBP
38nitric oxide44 25 1211.8HTT, CASP1, CNTF, CALB1, SLC2A3, BLVRB
39dopamine44 29 25 1212.8HCRT, CNTF, BDNF, CNR1, BLVRB, CALB1
40lipid449.7BDNF, CASP1, CNR1, CNTF, HTT, PRNP
41potassium44 25 1211.7BLVRB, TBP, HCRT, BDNF, CALB1, CASP1
42serine449.7TBP, CNR1, CNTF, HTT, PRNP, CASP8
43nmda44 2910.7CASP1, BLVRB, HCRT, KMO, HTT, CNR1
44oxygen44 2510.7HTT, BLVRB, TBP, KMO, PRNP, SLC2A3
45testosterone44 60 25 1212.6ATN1, BDNF, CALB1, CASP1, CNTF, HTT
46atp44 2910.5HTT, TBP, CALB1, BDNF, BLVRB, HCRT
47calcium44 50 25 1212.4BDNF, CALB1, CASP1, CNTF, HTT, HCRT
48glutamate449.4CNR1, BLVRB, HCRT, KMO, PRNP, BDNF
49glucose449.3HCRT, BLVRB, HTT, CNR1, CASP1, CALB1
50tyrosine449.3ATN1, PRNP, HTT, CNTF, BLVRB, CASP8

GO Terms for genes affiliated with Huntington's Disease

About this section

Cellular components related to Huntington's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.8CASP8, PRNP, KMO
2nucleusGO:0056348.9CALB1, CASP8, ZNF395, HTT, PRNP, PFN1
3cytoplasmGO:0057378.5TBP, CASP8, BDNF, SLC2A4RG, CNTF, ZNF395

Biological processes related to Huntington's Disease according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1quinolinate biosynthetic processGO:01980510.4HTT, KMO
2regulation of retinal cell programmed cell deathGO:04666810.4BDNF, CNTF
3vesicle transport along microtubuleGO:04749610.3HTT, HAP1
4learning or memoryGO:00761110.2BDNF, CALB1, PRNP
5execution phase of apoptosisGO:09719410.2CASP1, CASP8
6negative regulation of neuron apoptotic processGO:04352410.2HTT, CNTF, BDNF
7response to lipopolysaccharideGO:03249610.0CNR1, CASP8, CASP1
8cellular response to organic substanceGO:07131010.0CASP1, CALB1
9regulation of excitatory postsynaptic membrane potentialGO:0600799.9HCRT, BDNF

Products for genes affiliated with Huntington's Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Huntington's Disease

About this section
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet