Comparative

OMIA group 364

Factor XII deficiency

The chain reaches the human disease congenital factor XII deficiency, which Mondo defines as: “Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.”

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 0.82.

  5. Drugs

    Reached

    2 ChEMBL drugs, 2 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.

congenital factor XII deficiency

71.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.6 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 4 naturally occurring species entries marked as a defect 10.0 of 10

Species

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

Species Scientific name OMIA entry A defect
common bottlenose dolphin Tursiops truncatus OMIA:000364-9739 Yes
dog Canis lupus familiaris OMIA:000364-9615 Yes
domestic cat Felis catus OMIA:000364-9685 Yes
killer whale Orcinus orca OMIA:000364-9733 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
common bottlenose dolphin No gene OMIA records no gene for this species entry.
dog No gene OMIA records no gene for this species entry.
domestic cat F12 coagulation factor XII (Hageman factor) NCBI Gene 100313488 F12 Ensembl one to one
killer whale No gene OMIA records no gene for this species entry.

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:0009315 congenital factor XII deficiency Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. 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
F12 congenital factor XII deficiency 0.82 73 Genetic association 0.91 Genetic literature 0.77 Animal model 0.33

Drugs

Drugs act on F12, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Bismuth Subgallate F12 activator Approved No
Human C1-Esterase Inhibitor F12 inhibitor Approved No

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