Comparative

OMIA group 2493

Alzheimer disease, PSEN1-related

The chain reaches the human disease Alzheimer disease 3, which Mondo defines as: “Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.”

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 3 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 0.83.

  5. Drugs

    Reached

    6 ChEMBL drugs, 1 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.

Alzheimer disease 3

41.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.83 29.2 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 Both routes found this disease 10.0 of 10
Species 0 naturally occurring species entries marked as a defect. 3 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:002493-9541 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:002493-9823 Yes
white-tufted-ear marmoset Genetically engineered, not naturally occurring. Not counted in the score. Callithrix jacchus OMIA:002493-9483 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 PSEN1 presenilin 1 NCBI Gene 102138674 PSEN1 Ensembl one to one
pig PSEN1 presenilin 1 NCBI Gene 780411 PSEN1 Ensembl one to one
white-tufted-ear marmoset PSEN1 presenilin 1 NCBI Gene 100401034 PSEN1 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:0011913 Alzheimer disease 3 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. 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
PSEN1 Alzheimer disease 3 0.83 622 Genetic association 0.98 Genetic literature 0.88 Animal model 0.40 Literature 0.04

Drugs

Drugs act on PSEN1, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Nirogacestat PSEN1 inhibitor Approved No
Semagacestat PSEN1 inhibitor Phase 3 No
Tarenflurbil PSEN1 modulator Phase 3 No
Avagacestat PSEN1 inhibitor Phase 2 No
Rg-4733 PSEN1 inhibitor Phase 2 No
Begacestat PSEN1 inhibitor Phase 1 No

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