OMIA group 1473

Dwarfism, growth-hormone deficiency

The chain reaches the human disease isolated growth hormone deficiency type IA, which Mondo defines as: “An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.” 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.

Animal disease

Reached

OMIA records it in 2 species entries marked as a defect.
Human disease

Reached

3 Mondo diseases.
Human gene

Reached

5 human genes.
Target evidence

Reached

11 Open Targets associations, with a best score of 0.75.
Drugs

Stopped here

No ChEMBL drug acts on a human gene of the group's target evidence.

The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.

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.

isolated growth hormone deficiency type II

50.3 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.75	26.3 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to many ortholog	12.0 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

isolated growth hormone deficiency type IB

49.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.74	25.9 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to many ortholog	12.0 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

isolated growth hormone deficiency type IA

44.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.60	20.9 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to many ortholog	12.0 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
dog	Canis lupus familiaris	OMIA:001473-9615	Yes
domestic cattle	Bos taurus	OMIA:001473-9913	Unknown, not counted
zebu cattle	Bos indicus	OMIA:001473-9915	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
dog	GH1 growth hormone NCBI Gene 403795	CSH1 Ensembl	one to many
		CSH2 Ensembl	one to many
		CSHL1 Ensembl	one to many
		GH1 Ensembl	one to many
		GH2 Ensembl	one to many
zebu cattle	LOC109574543 somatotropin NCBI Gene 109574543	Ensembl has no gene cross-references for this species.
domestic cattle 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.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0009876	isolated growth hormone deficiency type IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.	OMIA's OMIM numbers
MONDO:0013006	isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.	OMIA's OMIM numbers
MONDO:0008250	isolated growth hormone deficiency type II	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
GH1	isolated growth hormone deficiency type II	0.75	46	Genetic association 0.83 Genetic literature 0.73 Animal model 0.44 Literature 0.09
GH1	isolated growth hormone deficiency type IB	0.74	20	Genetic association 0.84 Genetic literature 0.73 Animal model 0.34
GH1	isolated growth hormone deficiency type IA	0.60	9	Genetic literature 0.73 Genetic association 0.61 Literature 0.04
CSH1	isolated growth hormone deficiency type II	0.05	2	Animal model 0.44
CSH2	isolated growth hormone deficiency type II	0.05	2	Animal model 0.44
CSHL1	isolated growth hormone deficiency type II	0.05	2	Animal model 0.44
GH2	isolated growth hormone deficiency type II	0.05	2	Animal model 0.44
CSH1	isolated growth hormone deficiency type IB	0.04	2	Animal model 0.34
CSH2	isolated growth hormone deficiency type IB	0.04	2	Animal model 0.34
CSHL1	isolated growth hormone deficiency type IB	0.04	2	Animal model 0.34
GH2	isolated growth hormone deficiency type IB	0.04	2	Animal model 0.34

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.