Comparative

OMIA group 485

Huntington disease

The chain reaches the human disease Huntington disease, which Mondo defines as: “Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.”

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 4 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.69.

  5. Drugs

    Reached

    1 ChEMBL drug, 0 approved. At least one has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

Huntington disease

63.2 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.69 24.2 of 35
Drugs A drug has reached approved for this disease 25.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 1 naturally occurring species entry marked as a defect. 3 genetically engineered entries are not counted 4.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
crab-eating macaque Macaca fascicularis OMIA:000485-9541 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:000485-9823 Yes
Rhesus monkey Genetically engineered, not naturally occurring. Not counted in the score. Macaca mulatta OMIA:000485-9544 Yes
sheep Genetically engineered, not naturally occurring. Not counted in the score. Ovis aries OMIA:000485-9940 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
crab-eating macaque HTT huntingtin NCBI Gene 102128821 Ensembl does not know this NCBI Gene identifier.
pig HTT huntingtin NCBI Gene 397014 HTT Ensembl one to one
Rhesus monkey HTT huntingtin NCBI Gene 700306 HTT Ensembl one to one
sheep HTT huntingtin NCBI Gene 100216476 HTT Ensembl one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0007739 Huntington disease Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Both routes

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene Human disease Score Evidence Kinds of evidence
HTT Huntington disease 0.69 8,027 Literature 0.99 Genetic association 0.80 Animal model 0.64 Known drug 0.62 Genetic literature 0.61

Drugs

A drug acts on HTT and has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Tominersen HTT antisense inhibitor Phase 3 Phase 3 for Huntington disease

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.