MCID: HNT016
MIFTS: 80

Huntington Disease malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Huntington Disease

About this section
Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 38NCIt, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Huntington Disease, Aliases & Descriptions:

Name: Huntington Disease 45 9 10 19 41 21 43 47 30 60
Huntington's Disease 30 9 63 41 20 21 42 32
Huntington Chorea 19 41 21 47 22
Huntington's Chorea 9 41 21
 
Hd 9 41
Huntington Chronic Progressive Hereditary Chorea 21
Progressive Chorea, Chronic Hereditary 63
Huntingtons Disease 11


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
huntington disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: any age


External Ids:

OMIM45 143100
Disease Ontology9 DOID:12858
MeSH33 D006816
ICD9CM27 333.4
NCIt38 C82342
SNOMED-CT55 58756001, 155006000
Orphanet47 399
UMLS via Orphanet61 C0020179
MESH via Orphanet34 D006816
ICD10 via Orphanet26 G10
ICD1025 G10

Summaries for Huntington Disease

About this section


NINDS:42 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 Disease, also known as huntington's disease, is related to motor neuron disease and spinocerebellar ataxia 17, and has symptoms including behavioral abnormality, hypertonia and abnormality of the voice. An important gene associated with Huntington Disease is HTT (huntingtin), and among its related pathways are Integrated Pancreatic Cancer Pathway and Apoptotic Pathways in Synovial Fibroblasts. The drugs perphenazine and baclofen and the compounds cystamine and 3-nitropropionic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related mouse phenotypes are taste/olfaction and normal.

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.

NIH Rare Diseases:41 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

MedlinePlus:32 Huntington's disease (hd) is an inherited disease that causes certain nerve cells in the brain to waste away. people are born with the defective gene, but symptoms usually don't appear until middle age. early symptoms of hd may include uncontrolled movements, clumsiness, and balance problems. later, hd can take away the ability to walk, talk, and swallow. some people stop recognizing family members. others are aware of their environment and are able to express emotions. if one of your parents has huntington's disease, you have a 50 percent chance of getting it. a blood test can tell you if have the hd gene and will develop the disease. genetic counseling can help you weigh the risks and benefits of taking the test. there is no cure. medicines can help manage some of the symptoms, but cannot slow down or stop the disease. nih: national institute of neurological disorders and stroke

Genetics Home Reference:21 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

OMIM:45 Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype... (143100) more...

Wikipedia:63 Huntington\'s disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and... more...

GeneReviews summary for huntington

Related Diseases for Huntington Disease

About this section

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 117)
idRelated DiseaseScoreTop Affiliating Genes
1motor neuron disease30.7HTT, CNTF, BDNF
2spinocerebellar ataxia 1730.5TBP, ATN1, JPH3
3spinocerebellar ataxia30.2HTT, TBP
4prion disease30.1PRNP, HTT, CNR1, BDNF
5machado-joseph disease30.0TBP, HTT, ATN1
6dementia29.4HAP1, HCRT, PRNP, HTT, TBP, BDNF
7breast cancer29.4SLC2A3, CASP1, CASP8, CNR1, HTT, PFN1
8ischemia29.3HCRT, KMO, ADORA2A, CNR1, CNTF, CASP1
9schizophrenia29.0ATN1, HCRT, ADORA2A, CNR1, CNTF, TBP
10alzheimer disease28.4HCRT, ADORA2A, PRNP, HTT, CNR1, CNTF
11juvenile huntington disease10.7
12huntington disease-like 210.6
13huntington disease-like syndrome10.6
14obsessive-compulsive disorder10.5BDNF
15huntington disease-like 110.4
16neuroblastoma10.4PRNP, BDNF
17huntington disease-like 310.4
18neuronitis10.4
19huntington disease-like syndrome due to c9orf72 expansions10.4
20cannabis dependence10.4CNR1
21spinocerebellar ataxia 110.3HTT, ATN1
22toxic encephalopathy10.3BDNF, HTT, PRNP
23pick disease10.3HTT
24cowpox10.3CASP1, CASP8
25supranuclear palsy, progressive10.3HCRT, PRNP
26status epilepticus10.3BDNF, CNR1
27sensory peripheral neuropathy10.3BDNF, CNTF
28drug addiction10.3HCRT, BDNF
29ataxia10.2
30fragile x syndrome10.2
31anxiety disorder10.1BDNF, CNR1
32psychotic disorder10.1CNR1, CNTF, BDNF
33demyelinating disease10.1CNTF, HCRT
34hydrocephalus10.1
35normal pressure hydrocephalus10.1
36eating disorder10.1HCRT, CNR1, BDNF
37anorexia nervosa10.1HCRT, CNR1, BDNF
38attention deficit-hyperactivity disorder10.1
39conduct disorder10.1
40hyperphosphatemia10.1
41pancreatitis10.1
42aneurysm10.1
43endotheliitis10.1
44mood disorder10.1BDNF, CNR1, HCRT
45hereditary ataxia10.1TBP, ATN1
46hypoglycemia10.1HCRT, BDNF, SLC2A3
47parkinson disease, late-onset10.0ADORA2A, CNR1, BDNF
48spinocerebellar ataxia 1210.0ATN1, PRNP, TBP
49porphyria variegata10.0
50wilson disease10.0

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



Diseases related to huntington disease

Symptoms for Huntington Disease

About this section

Symptoms by clinical synopsis from OMIM:

143100

Clinical features from OMIM:

143100

Symptoms:

 47 (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 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 Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Huntington Disease

Search NIH Clinical Center for Huntington Disease

Inferred drug relations via UMLS60/NDF-RT39:

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, PMID: 22424902

Genetic Tests for Huntington Disease

About this section

Genetic tests related to Huntington Disease:

id Genetic test Affiliating Genes
1 Huntington Disease20 HTT
2 Huntington's Chorea22

Anatomical Context for Huntington Disease

About this section

MalaCards organs/tissues related to Huntington Disease:

31
Brain, Testes, Heart, T cells, Eye, B cells, Endothelial, Cortex, Breast

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Animal Models for Huntington Disease or affiliated genes

About this section

Publications for Huntington Disease

About this section

Articles related to Huntington Disease:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. (24363131)
2014
2
The impact of single-nucleotide polymorphisms (SNPs) in OGG1 and XPC on the age at onset of Huntington disease. (23830927)
2013
3
The challenge of juvenile Huntington disease: to test or not to test. (23390178)
2013
4
Substance abuse may be a risk factor for earlier onset of Huntington disease. (22274789)
2012
5
Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients. (22720673)
2012
6
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. (22367996)
2012
7
Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. (21412977)
2011
8
Genotype-, aging-dependent abnormal caspase activity in Huntington disease blood cells. (21519949)
2011
9
Partial depletion of CREB-binding protein reduces life expectancy in a mouse model of Huntington disease. (20448484)
2010
10
Tetrabenazine: the first approved drug for the treatment of chorea in US patients with Huntington disease. (20957126)
2010
11
High insulinlike growth factor I is associated with cognitive decline in Huntington disease. (20603485)
2010
12
Widespread decrease of type 1 cannabinoid receptor availability in Huntington disease in vivo. (20720046)
2010
13
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. (19249009)
2009
14
Brain-specific proteins decline in the cerebrospinal fluid of humans with Huntington disease. (18984577)
2009
15
In vivo evidence for NMDA receptor-mediated excitotoxicity in a murine genetic model of Huntington disease. (19279257)
2009
16
A survey of (CAG)n repeats causing juvenile Huntington disease in an Iranian family with 4 affected members. (21048629)
2009
17
Proteomic and oxidative stress analysis in human brain samples of Huntington disease. (18588971)
2008
18
Single-step scalable-throughput molecular screening for Huntington disease. (18403567)
2008
19
Polyglutamine-modulated striatal calpain activity in YAC transgenic huntington disease mouse model: impact on NMDA receptor function and toxicity. (19036965)
2008
20
Juvenile Huntington disease exacerbated by methylphenidate: case report. (18658080)
2008
21
Selective degeneration in YAC mouse models of Huntington disease. (17352936)
2007
22
Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. (17409200)
2007
23
Aggregation of expanded huntingtin in the brains of patients with Huntington disease. (19172113)
2007
24
Intergeneration CAG expansion in a Wuhan juvenile-onset Huntington disease family. (17687393)
2007
25
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. (17562929)
2007
26
Testicular degeneration in Huntington disease. (17433700)
2007
27
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease. (17096834)
2006
28
Atypical onset of symptoms in Huntington disease: severe cognitive decline preceding chorea or other motor manifestations. (17159620)
2006
29
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. (16604191)
2006
30
Capucin: a novel striatal marker down-regulated in rodent models of Huntington disease. (16359841)
2006
31
Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. (16901424)
2006
32
Ancient origin of the CAG expansion causing Huntington disease in a Spanish population. (15832309)
2005
33
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. (15029481)
2004
34
Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR. (12682342)
2003
35
Rapid onset of tardive dyskinesia in Huntington disease with olanzapine. (12172349)
2002
36
The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease. (11260214)
2001
37
Significantly lower incidence of cancer among patients with Huntington disease: An apoptotic effect of an expanded polyglutamine tract? (10506723)
1999
38
Two novel single-base-pair substitutions adjacent to the CAG repeat in the huntington disease gene (IT15): implications for diagnostic testing. (9915978)
1999
39
Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards. (10441201)
1999
40
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. (10051007)
1999
41
Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). (9352736)
1997
42
Juvenile Huntington disease in the Netherlands. (9308974)
1997
43
Ciliary neurotrophic factor protects striatal output neurons in an animal model of Huntington disease. (8692996)
1996
44
Huntington disease: clinical and genetic study in a Spanish population]. (8554791)
1995
45
Juvenile Huntington disease: CT and MR features. (7484624)
1995
46
A Sau3A polymorphism in the 5' end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion. (7909529)
1994
47
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. (1664411)
1991
48
DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus. (2525613)
1989
49
Age of onset in siblings of persons with juvenile Huntington disease. (2931216)
1985
50
Bicaudate index in computerized tomography of Huntington disease and cerebral atrophy. (152416)
1978

Variations for Huntington Disease

About this section

Clinvar genetic disease variations for Huntington Disease:

6
id Gene Variation 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 Disease

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Huntington Disease patients vs. healthy controls: 30 (show all 29)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1RBM25RNA binding motif protein 25Blood-4.350.000
2UBXN4UBX domain protein 4Blood-4.250.000
3LUC7L3LUC7-like 3 (S. cerevisiae)Blood-4.070.000
4DKC1dyskeratosis congenita 1, dyskerinBlood-4.000.000
5SYNCRIPsynaptotagmin binding, cytoplasmic RNA interacting proteinBlood-3.790.000
6AP3D1adaptor-related protein complex 3, delta 1 subunitBlood-3.770.000
7SRRM2serine/arginine repetitive matrix 2Blood-3.740.000
8SONSON DNA binding proteinBlood-3.730.000
9PTPRCprotein tyrosine phosphatase, receptor type, CBlood-3.670.000
10NKTRnatural killer cell triggering receptorBlood-3.570.000
11ESF1ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)Blood-3.530.000
12RBL2retinoblastoma-like 2Blood-3.490.000
13ADAM28ADAM metallopeptidase domain 28Blood-3.480.000
14PNISRPNN-interacting serine/arginine-rich proteinBlood-3.440.000
15HSP90AA1heat shock protein 90kDa alpha (cytosolic), class A member 1Blood-3.380.000
16SCAF11SR-related CTD-associated factor 11Blood-3.360.000
17NBPF10neuroblastoma breakpoint family, member 10Blood-3.350.000
18PRRC2Cproline-rich coiled-coil 2CBlood-3.320.000
19LRRN3leucine rich repeat neuronal 3Blood-3.280.000
20PPIGpeptidylprolyl isomerase G (cyclophilin G)Blood-3.270.000
21TRIM23tripartite motif containing 23Blood-3.230.000
22ANKRD12ankyrin repeat domain 12Blood-3.220.000
23CHD4chromodomain helicase DNA binding protein 4Blood-3.120.000
24TNFAIP2tumor necrosis factor, alpha-induced protein 2Blood-3.110.000
25PTMAprothymosin, alphaBlood-3.100.000
26USO1USO1 vesicle transport factorBlood-3.090.000
27ATRXalpha thalassemia/mental retardation syndrome X-linkedBlood-3.060.000
28PRMT2protein arginine methyltransferase 2Blood-3.040.000
29TBL1Xtransducin (beta)-like 1X-linkedBlood-3.030.000

Search GEO for disease gene expression data for Huntington Disease.

Pathways for genes affiliated with Huntington Disease

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2BDNF, TBP, CASP8
2
Show member pathways
8.6PFN1, CASP8, CASP1, TBP, BDNF
3
Show member pathways
8.5CNTF, CASP8, CASP1, TBP, BDNF
4
Show member pathways
8.0BDNF, TBP, CASP8, HTT, ADORA2A, HAP1

Compounds for genes affiliated with Huntington Disease

About this section

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

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1cystamine4310.2BDNF, HTT
23-nitropropionic acid4310.1HTT, BDNF
3it 154310.0JPH3, ATN1, HTT
4axokine439.8CNR1, CNTF, BDNF
5octadecaneuropeptide439.8HCRT, CNTF
6melatonin43 28 59 24 1213.7BDNF, HTT, HCRT
7tetracycline43 1210.7CASP1, CASP8, PRNP
8anisomycin43 1210.6CASP8, CASP1, BDNF
9n acetylcysteine439.6CNTF, CASP8, CASP1, BDNF
10tetrodotoxin43 59 2811.5BDNF, CNR1, HCRT
11superoxide43 2410.5PRNP, HTT, CNTF, CASP8, CASP1
12inositol 1,4,5 trisphosphate439.5BDNF, HTT, ADORA2A, PFN1
13amphetamine43 49 1211.4CNTF, CNR1, HCRT
14cycloheximide439.4CNTF, CASP8, CASP1, BDNF, SLC2A3
15quinolinic acid43 2410.4BDNF, CNTF, HTT, KMO, HCRT
16h2o2439.4PRNP, CNTF, CASP8, CASP1, BDNF
17pd 98,059439.3BDNF, CASP1, CASP8, CNTF
18kainate43 2810.3BDNF, CNR1, HTT, ADORA2A
19thapsigargin43 5910.1HCRT, CNR1, CASP8, CASP1, BDNF
20glyceraldehyde 3-phosphate439.1TBP, HTT, PFN1, ATN1
21proline439.0PFN1, PRNP, HTT, TBP, BDNF
22ethanol43 49 24 1212.0HCRT, ADORA2A, CASP1, BDNF, SLC2A3
23histidine439.0PRNP, CNTF, CASP1, TBP
24cholesterol43 28 24 1211.9HCRT, ADORA2A, PRNP, HTT, BDNF
25aspartate438.9ADORA2A, PRNP, CNR1, CASP1, BDNF
26testosterone43 59 24 1211.9ATN1, HCRT, HTT, CNTF, CASP1, BDNF
27levodopa43 129.8BDNF, CNR1, ADORA2A
28cocaine43 129.7HCRT, ADORA2A, CNR1, CNTF, BDNF
29gaba438.7HCRT, ADORA2A, CNR1, CNTF, BDNF
30nitric oxide43 24 1210.7HCRT, ADORA2A, HTT, CNTF, CASP1, SLC2A3
31norepinephrine43 24 1210.6HCRT, ADORA2A, CNR1, CNTF, BDNF
32acetylcholine43 49 28 24 1212.6BDNF, CNTF, CNR1, ADORA2A, HCRT
33retinoic acid43 249.6HTT, CNTF, CASP8, CASP1, TBP, BDNF
34glucose438.6HCRT, HTT, CNR1, CNTF, CASP1, BDNF
35dopamine43 28 24 1211.5HCRT, ADORA2A, HTT, CNR1, CNTF, BDNF
36histamine43 28 2410.4HCRT, ADORA2A, CNR1, CNTF, CASP1, BDNF
37nmda43 289.3HCRT, KMO, ADORA2A, HTT, CNR1, CASP1
38cysteine438.3ATN1, HTT, CNR1, CASP8, CASP1, TBP
39glutamine438.2HAP1, ATN1, ADORA2A, HTT, CASP1, TBP
40potassium43 24 1210.1HCRT, ADORA2A, CNTF, CASP1, TBP, BDNF
41alanine438.0HCRT, PRNP, HTT, CNR1, CNTF, CASP8
42adenylate437.8HCRT, ADORA2A, CNR1, CNTF, TBP, BDNF
43cyclic amp43 248.8HCRT, ADORA2A, CNR1, CNTF, TBP, BDNF
44calcium43 49 24 1210.8HCRT, ADORA2A, PRNP, HTT, CNR1, CNTF
45oxygen43 248.8KMO, ADORA2A, PRNP, HTT, CASP8, CASP1
46atp43 288.7HCRT, PFN1, ADORA2A, PRNP, HTT, CASP1
47glutamate437.7HCRT, KMO, ADORA2A, PRNP, HTT, CNR1
48lipid437.7HCRT, PFN1, ADORA2A, PRNP, HTT, CNR1
49tyrosine437.6ATN1, HCRT, ADORA2A, PRNP, HTT, CNTF
50serine437.4ADORA2A, PRNP, HTT, CNR1, CNTF, CASP8

GO Terms for genes affiliated with Huntington Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.7CASP8, PRNP, KMO
2cytoplasmGO:00057376.6BDNF, ATN1, SETDB1, PRNP, HTT, ZNF395

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1quinolinate biosynthetic processGO:001980510.1HTT, KMO
2regulation of retinal cell programmed cell deathGO:004666810.0BDNF, CNTF
3vesicle transport along microtubuleGO:004749610.0HAP1, HTT
4regulation of mitochondrial membrane potentialGO:00518819.7HTT, ADORA2A
5regulation of synaptic plasticityGO:00481679.7HTT, ADORA2A
6execution phase of apoptosisGO:00971949.6CASP1, CASP8
7response to lipopolysaccharideGO:00324969.5CASP1, CASP8, CNR1
8regulation of excitatory postsynaptic membrane potentialGO:00600799.4BDNF, ADORA2A, HCRT
9eating behaviorGO:00427559.3HCRT, ADORA2A
10negative regulation of neuron apoptotic processGO:00435249.2ADORA2A, HTT, CNTF, BDNF

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.7TBP, ATN1, SETDB1, PFN1, ADORA2A, PRNP

Products for genes affiliated with Huntington Disease

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

Sources for Huntington Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet