Comparative

OMIA group 1703

Chondrodysplasia, FGFR3-related

The chain reaches the human disease achondroplasia, which Mondo defines as: “Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.” It reaches 3 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 2 species entries marked as a defect.

  2. Human disease

    Reached

    4 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    4 Open Targets associations, with a best score of 0.82.

  5. Drugs

    Reached

    23 ChEMBL drugs, 8 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.

achondroplasia

85.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.9 of 35
Drugs A drug has reached approved for this disease 25.0 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes One route found this disease 5.0 of 10
Species 2 naturally occurring species entries marked as a defect 7.0 of 10
hypochondroplasia

80.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.80 28.1 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 One route found this disease 5.0 of 10
Species 2 naturally occurring species entries marked as a defect 7.0 of 10
thanatophoric dysplasia type 1

63.2 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.7 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 2 naturally occurring species entries marked as a defect 7.0 of 10
thanatophoric dysplasia type 2

62.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.79 27.6 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 One route found this disease 5.0 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
domestic cattle Bos taurus OMIA:001703-9913 Yes
sheep Ovis aries OMIA:001703-9940 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 FGFR3 fibroblast growth factor receptor 3 NCBI Gene 281769 FGFR3 Ensembl one to one
sheep FGFR3 fibroblast growth factor receptor 3 NCBI Gene 554324 FGFR3 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:0007037 achondroplasia Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. OMIA's OMIM numbers
MONDO:0007793 hypochondroplasia Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. OMIA's OMIM numbers
MONDO:0008546 thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. OMIA's OMIM numbers
MONDO:0008547 thanatophoric dysplasia type 2 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. 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
FGFR3 achondroplasia 0.82 817 Genetic association 0.89 Genetic literature 0.81 Animal model 0.61 Known drug 0.56 Literature 0.55
FGFR3 thanatophoric dysplasia type 1 0.82 171 Genetic association 0.90 Genetic literature 0.84 Animal model 0.59 Literature 0.18
FGFR3 hypochondroplasia 0.80 298 Genetic association 0.87 Genetic literature 0.82 Animal model 0.68 Literature 0.37 Known drug 0.33
FGFR3 thanatophoric dysplasia type 2 0.79 114 Genetic association 0.84 Genetic literature 0.83 Animal model 0.61 Literature 0.20

Drugs

A drug acts on FGFR3 and has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Infigratinib FGFR3 inhibitor Approved Phase 3 for achondroplasia
E-7090 FGFR3 inhibitor Approved No
Erdafitinib FGFR3 inhibitor Approved No
Futibatinib FGFR3 inhibitor Approved No
Masitinib FGFR3 inhibitor Approved No
Nintedanib FGFR3 inhibitor Approved No
Pazopanib FGFR3 inhibitor Approved No
Pemigatinib FGFR3 inhibitor Approved No
Brivanib FGFR3 inhibitor Phase 3 No
Brivanib Alaninate FGFR3 inhibitor Phase 3 No
Derazantinib FGFR3 inhibitor Phase 3 No
Dovitinib FGFR3 inhibitor Phase 3 No
Orantinib FGFR3 inhibitor Phase 3 No
Rogaratinib FGFR3 inhibitor Phase 2/3 No
Enmd-2076 FGFR3 inhibitor Phase 2 No
Enmd-981693 FGFR3 inhibitor Phase 2 No
Fexagratinib FGFR3 inhibitor Phase 2 No
Fgfr Inhibitor Debio 1347 FGFR3 inhibitor Phase 2 No
Hmpl-453 FGFR3 inhibitor Phase 2 No
Ly-2874455 FGFR3 inhibitor Phase 2 No
Vofatamab FGFR3 inhibitor Phase 2 No
Xl-999 FGFR3 inhibitor Phase 2 No
Cp-459632 FGFR3 inhibitor Unknown No

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