Comparative

OMIA group 2090

Facial dysplasia syndrome

The chain reaches the human disease Apert syndrome, which Mondo defines as: “Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.” 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 1 species entry marked as a defect.

  2. Human disease

    Reached

    3 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    3 Open Targets associations, with a best score of 0.86.

  5. Drugs

    Reached

    26 ChEMBL drugs, 9 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.

Crouzon syndrome

61.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.86 30.3 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 One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
Pfeiffer syndrome

61.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.85 29.8 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 One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
Apert syndrome

60.7 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 One to one ortholog 20.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 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
domestic cattle Bos taurus OMIA:002090-9913 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
domestic cattle FGFR2 fibroblast growth factor receptor 2 NCBI Gene 404193 FGFR2 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:0007041 Apert syndrome Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. OMIA's OMIM numbers
MONDO:0007405 Crouzon syndrome Crouzon disease is characterized by craniosynostosis and facial hypoplasia. OMIA's OMIM numbers
MONDO:0007043 Pfeiffer syndrome Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. 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
FGFR2 Crouzon syndrome 0.86 541 Genetic association 0.95 Genetic literature 0.84 Animal model 0.57 Literature 0.45
FGFR2 Pfeiffer syndrome 0.85 344 Genetic association 0.97 Genetic literature 0.86 Animal model 0.55 Literature 0.28
FGFR2 Apert syndrome 0.83 464 Literature 0.91 Genetic association 0.88 Genetic literature 0.85 Animal model 0.56

Drugs

Drugs act on FGFR2, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
E-7090 FGFR2 inhibitor Approved No
Erdafitinib FGFR2 inhibitor Approved No
Futibatinib FGFR2 inhibitor Approved No
Infigratinib FGFR2 inhibitor Approved No
Nintedanib FGFR2 inhibitor Approved No
Palifermin FGFR2 agonist Approved No
Pemigatinib FGFR2 inhibitor Approved No
Regorafenib FGFR2 inhibitor Approved No
Trafermin FGFR2 agonist Approved No
Bemarituzumab FGFR2 inhibitor Phase 3 No
Brivanib FGFR2 inhibitor Phase 3 No
Brivanib Alaninate FGFR2 inhibitor Phase 3 No
Derazantinib FGFR2 inhibitor Phase 3 No
Lucitanib FGFR2 inhibitor Phase 3 No
Orantinib FGFR2 inhibitor Phase 3 No
Rogaratinib FGFR2 inhibitor Phase 2/3 No
Enmd-981693 FGFR2 inhibitor Phase 2 No
Fexagratinib FGFR2 inhibitor Phase 2 No
Fgfr Inhibitor Debio 1347 FGFR2 inhibitor Phase 2 No
Hmpl-453 FGFR2 inhibitor Phase 2 No
Ly-2874455 FGFR2 inhibitor Phase 2 No
Tg100-801 FGFR2 inhibitor Phase 2 No
Xl-999 FGFR2 inhibitor Phase 2 No
Aprutumab Ixadotin FGFR2 binding agent Phase 1 No
Rg-1530 FGFR2 inhibitor Phase 1 No
Cp-459632 FGFR2 inhibitor Unknown No

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