Comparative

OMIA group 1926

Achondrogenesis, type II

The chain reaches the human disease achondrogenesis type II, which Mondo defines as: “Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.”

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 0.84.

  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.

achondrogenesis type II

68.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.84 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 Both routes found this disease 10.0 of 10
Species 2 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 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:001926-9913 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:001926-9823 Yes
sheep Ovis aries OMIA:001926-9940 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 COL2A1 collagen type II alpha 1 NCBI Gene 407142 COL2A1 Ensembl one to one
pig COL2A1 collagen, type II, alpha 1 NCBI Gene 397323 COL2A1 Ensembl one to one
sheep COL2A1 collagen type II alpha 1 chain NCBI Gene 100196905 COL2A1 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:0008702 achondrogenesis type II Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. 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
COL2A1 achondrogenesis type II 0.84 176 Genetic association 0.92 Genetic literature 0.79 Animal model 0.62 Literature 0.17

Drugs

Drugs act on COL2A1, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Collagenase Clostridium Histolyticum COL2A1 hydrolytic enzyme Approved No
Ocriplasmin COL2A1 hydrolytic enzyme Approved No

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