Comparative

OMIA group 2378

Parkinson disease, SNCA-related

The chain reaches the human disease autosomal dominant Parkinson disease 4, which Mondo defines as: “A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.” It reaches 2 more human diseases, listed below.

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

    3 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.74.

  5. Drugs

    Reached

    2 ChEMBL drugs, 0 approved. None 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.

Lewy body dementia

56.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.74 26.0 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 One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 4 genetically engineered entries are not counted 0.0 of 10
autosomal dominant Parkinson disease 1

7.5 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 4 genetically engineered entries are not counted 0.0 of 10
autosomal dominant Parkinson disease 4

7.5 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 4 genetically engineered entries are not counted 0.0 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 Genetically engineered, not naturally occurring. Not counted in the score. Macaca fascicularis OMIA:002378-9541 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:002378-9823 Yes
Rhesus monkey Genetically engineered, not naturally occurring. Not counted in the score. Macaca mulatta OMIA:002378-9544 Yes
white-tufted-ear marmoset Genetically engineered, not naturally occurring. Not counted in the score. Callithrix jacchus OMIA:002378-9483 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 SNCA synuclein alpha NCBI Gene 102119369 Ensembl does not know this NCBI Gene identifier.
pig SNCA synuclein alpha NCBI Gene 641350 Ensembl does not know this NCBI Gene identifier.
Rhesus monkey SNCA synuclein alpha NCBI Gene 706985 SNCA Ensembl one to one
white-tufted-ear marmoset SNCA synuclein alpha NCBI Gene 100406180 Ensembl does not know this NCBI Gene identifier.

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:0008200 autosomal dominant Parkinson disease 1 OMIA's OMIM numbers
MONDO:0011562 autosomal dominant Parkinson disease 4 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. OMIA's OMIM numbers
MONDO:0007488 Lewy body dementia A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. OMIA's OMIM numbers

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
SNCA Lewy body dementia 0.74 2,696 Literature 0.96 Genetic association 0.82 Genetic literature 0.78 Animal model 0.43

Drugs

Drugs act on SNCA, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Prasinezumab SNCA binding agent Phase 3 No
Cinpanemab SNCA inhibitor Phase 2 No

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