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Details
Link-It Detail - Disease - Huntington Disease
Debug Stats
  • ### Total Build Time: 289 ms 69.719 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.081 KB
  • CONCEPT_SYNONYM gt=NONE 1 ms Completed: 1 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=35 ms Completed: 35 ms rowSize= 2.255 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=16 ms Completed: 16 ms rowSize= 11.855 KB
  • CONCEPT_RELATIONSHIPS gt=179 ms Completed: 179 ms rowSize= 15.044 KB
  • CONCEPT_GENES gt=42 ms Completed: 42 ms rowSize= 37.786 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Huntington Disease C0020179
Definition (1)

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 or balance problems. Later, HD can take away the ability to walk, talk or 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 50-50 chance of getting it. A blood test can tell if you 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

Semantic Types (1)
Disease or Syndrome (T047)
Parents (5)
img Basal Ganglia Diseases C0004782
img Chorea C0008489
img Cognition Disorders C0009241
img Dementia C0497327
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Basal Ganglia Diseases C0004782
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Chorea C0008489
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Chorea C0008489
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Chorea C0008489
img Mental Disorders C0004936img Delirium, Dementia, Amnestic, Cognitive Disorders C00292274img Cognition Disorders C0009241
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Dementia C0497327
img Mental Disorders C0004936img Delirium, Dementia, Amnestic, Cognitive Disorders C00292274img Dementia C0497327
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (166)

Relation Types:
diso_​to_​anat : 25
diso_​to_​chem : 60
diso_​to_​diso : 58
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 20


Relationships:
none : 104
classifies : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​anatomic_​site_​of : 2
isa : 2
manifestation_​of : 19
mapped_​to : 3
may_​treat : 24
permuted_​term_​of : 1
related_​to : 2
use : 6
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN842img genetic aspects C0017399
DISO_to_PHEN550img genetic aspects C0017399
DISO_to_CHEM265img Nerve Tissue Proteins C0027759
DISO_to_CHEM235img Nuclear Proteins C0028589
DISO_to_CHEM187img Nerve Tissue Proteins C0027759
DISO_to_DISO183img Complication Aspects C1171258
DISO_to_CHEM172img Nuclear Proteins C0028589
DISO_to_ANAT163img Brain C0006104
DISO_to_ANAT134img Corpus Striatum C0010097
DISO_to_ANAT126img Neurons C0027882
DISO_to_ANAT107img Neurons C0027882
DISO_to_DISO90img Animal Disease Models C0012644
DISO_to_ANAT89img Corpus Striatum C0010097
DISO_to_ANAT86img Brain C0006104
DISO_to_DISO85img Complication Aspects C1171258
DISO_to_DISO70img Expanded Trinucleotide Repeat C0524894
DISO_to_CHEM63img Agents, Neuroprotective C0242912
DISO_to_DISO59img Cognition Disorders C0009241
DISO_to_DISO58img chemically induced C0007994
DISO_to_CHEM57img Agents, Neuroprotective C0242912
DISO_to_CHEM57img Peptide C0030956
DISO_to_DISO56img chemically induced C0007994
DISO_to_ANAT52img Mitochondria C0026237
DISO_to_PHYS49img Mutation C0026882
DISO_to_ANAT42img Cerebral Cortex C0007776
Genes (51)

Species:
human : 51
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFASA100192455fertility associated sperm antigen
img GENERIF, Score=734, Pubmed Id: 16054230, UMLKSK CUI: C0020179
HumanSTH246744saitohin
img GENERIF, Score=1000, Pubmed Id: 18300012, UMLKSK CUI: C0020179
HumanGSTO2119391glutathione S-transferase omega 2
img GAD, Score=1000, Pubmed Id: 15040808, UMLKSK CUI: C0020179
HumanCARD16114769caspase recruitment domain family, member 16
img GENERIF, Score=1000, Pubmed Id: 16354923, UMLKSK CUI: C0020179
HumanNLRP3114548NLR family, pyrin domain containing 3
img GENERIF, Score=1000, Pubmed Id: 19001869, UMLKSK CUI: C0020179
HumanJPH357338junctophilin 3
img GAD, Score=1000, Pubmed Id: 15876586, UMLKSK CUI: C0020179
img GENERIF, Score=1000, Pubmed Id: 11914418, UMLKSK CUI: C0020179
img GAD, Score=1000, Pubmed Id: 12805114, UMLKSK CUI: C0020179
img GENERIF, Score=1000, Pubmed Id: 18651325, UMLKSK CUI: C0020179
HumanPRPF40A55660PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
img GENERIF, Score=1000, Pubmed Id: 17065151, UMLKSK CUI: C0020179
HumanGHRL51738ghrelin/obestatin prepropeptide
img GENERIF, Score=1000, Pubmed Id: 15476444, UMLKSK CUI: C0020179
HumanGIT128964G protein-coupled receptor kinase interacting ArfGAP 1
img GENERIF, Score=1000, Pubmed Id: 15383276, UMLKSK CUI: C0020179
HumanTARDBP23435TAR DNA binding protein
img GENERIF, Score=734, Pubmed Id: 19018245, UMLKSK CUI: C0020179
HumanVPS13A23230vacuolar protein sorting 13 homolog A (S. cerevisiae)
img OMIM, Score=1000, UMLKSK CUI: C0020179
HumanNLRP122861NLR family, pyrin domain containing 1
img GENERIF, Score=1000, Pubmed Id: 19001869, UMLKSK CUI: C0020179
HumanTPPP11076tubulin polymerization promoting protein
img GENERIF, Score=1000, Pubmed Id: 18829967, UMLKSK CUI: C0020179
HumanTCERG110915transcription elongation regulator 1
img GENERIF, Score=1000, Pubmed Id: 17018562, UMLKSK CUI: C0020179
HumanPPARGC1A10891peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
img GENERIF, Score=1000, Pubmed Id: 19118529, UMLKSK CUI: C0020179
HumanSETDB19869SET domain, bifurcated 1
img GENERIF, Score=734, Pubmed Id: 17142323, UMLKSK CUI: C0020179
HumanGSTO19446glutathione S-transferase omega 1
img GAD, Score=1000, Pubmed Id: 15040808, UMLKSK CUI: C0020179
HumanTRIP109322thyroid hormone receptor interactor 10
img GENERIF, Score=734, Pubmed Id: 12604778, UMLKSK CUI: C0020179
HumanUCHL17345ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
img GAD, Score=1000, Pubmed Id: 12123845, UMLKSK CUI: C0020179
img GENERIF, Score=1000, Pubmed Id: 17925890, UMLKSK CUI: C0020179
img GENERIF, Score=673, Pubmed Id: 16369839, UMLKSK CUI: C0020179
img GAD, Score=1000, Pubmed Id: 16369839, UMLKSK CUI: C0020179
HumanTIMP27077TIMP metallopeptidase inhibitor 2
img GENERIF, Score=734, Pubmed Id: 12614934, UMLKSK CUI: C0020179
HumanTIMP17076TIMP metallopeptidase inhibitor 1
img GENERIF, Score=1000, Pubmed Id: 12614934, UMLKSK CUI: C0020179
HumanTGM37053transglutaminase 3
img GENERIF, Score=1000, Pubmed Id: 15715085, UMLKSK CUI: C0020179
HumanTGM27052transglutaminase 2
img GENERIF, Score=1000, Pubmed Id: 12528814, UMLKSK CUI: C0020179
img GENERIF, Score=1000, Pubmed Id: 15715085, UMLKSK CUI: C0020179
HumanTGM17051transglutaminase 1
img GENERIF, Score=1000, Pubmed Id: 16604191, UMLKSK CUI: C0020179
img GENERIF, Score=1000, Pubmed Id: 15715085, UMLKSK CUI: C0020179
HumanTBP6908TATA box binding protein
img GENERIF, Score=734, Pubmed Id: 12531510, UMLKSK CUI: C0020179
img GAD, Score=1000, Pubmed Id: 12805114, UMLKSK CUI: C0020179
img GENERIF, Score=1000, Pubmed Id: 14985389, UMLKSK CUI: C0020179
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020179Huntington Disease0self