Comparative

OMIA group 1323

Dwarfism, GHR-related

The chain reaches the human disease Laron syndrome, which Mondo defines as: “Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.” It reaches 1 more human disease, 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

    2 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    2 Open Targets associations, with a best score of 0.83.

  5. Drugs

    Reached

    6 ChEMBL drugs, 6 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.

Laron syndrome

63.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.83 29.1 of 35
Drugs A drug has reached approved for this disease 25.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted 4.0 of 10
short stature due to partial GHR deficiency

38.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.76 26.8 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted 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:001323-9913 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:001323-9823 Yes
Southern African pygmy mouse Mus minutoides OMIA:001323-10105 No, not counted

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 No gene OMIA records no gene for this species entry.
pig GHR growth hormone receptor NCBI Gene 397488 GHR Ensembl one to one
Southern African pygmy mouse Not a defect, not counted 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:0009877 Laron syndrome Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. OMIA's OMIM numbers
MONDO:0011420 short stature due to partial GHR deficiency Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. 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
GHR Laron syndrome 0.83 469 Genetic association 0.92 Genetic literature 0.83 Animal model 0.36 Literature 0.35
GHR short stature due to partial GHR deficiency 0.76 48 Genetic literature 0.83 Genetic association 0.83 Animal model 0.34 Literature 0.01

Drugs

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

Drug Acts on How Latest stage Tested for this disease
Lonapegsomatropin GHR agonist Approved No
Pegvisomant GHR antagonist Approved No
Somapacitan GHR agonist Approved No
Somatrem GHR agonist Approved No
Somatrogon GHR agonist Approved No
Somatropin GHR agonist Approved No

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