Comparative

OMIA group 844

Pyruvate kinase deficiency of erythrocyte

The chain reaches the human disease pyruvate kinase deficiency of red cells, which Mondo defines as: “A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.”

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 2 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 0.86.

  5. Drugs

    Reached

    2 ChEMBL drugs, 1 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.

pyruvate kinase deficiency of red cells

87.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.86 30.1 of 35
Drugs A drug has reached phase 3 for this disease 20.0 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 2 naturally occurring species entries marked as a defect 7.0 of 10

Species

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

Species Scientific name OMIA entry A defect
dog Canis lupus familiaris OMIA:000844-9615 Yes
domestic cat Felis catus OMIA:000844-9685 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
dog PKLR pyruvate kinase, liver and RBC NCBI Gene 406183 Ensembl does not know this NCBI Gene identifier.
domestic cat PKLR pyruvate kinase, liver and RBC NCBI Gene 101088459 PKLR 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:0009950 pyruvate kinase deficiency of red cells A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia. 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
PKLR pyruvate kinase deficiency of red cells 0.86 330 Genetic association 0.95 Genetic literature 0.80 Known drug 0.63 Animal model 0.52 Literature 0.49

Drugs

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

Drug Acts on How Latest stage Tested for this disease
Mitapivat PKLR activator Approved Phase 3 for pyruvate kinase deficiency of red cells
Etavopivat PKLR activator Phase 3 No

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