OMIA group 755

Osteopetrosis

The chain reaches the human disease autosomal recessive osteopetrosis 1, which Mondo defines as: “Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.” It reaches 4 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 7 species entries marked as a defect.
Human disease

Reached

5 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

4 Open Targets associations, with a best score of 0.06.
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.

autosomal recessive osteopetrosis 2

37.0 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.06	2.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

autosomal recessive osteopetrosis 3

36.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.05	1.9 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

autosomal recessive osteopetrosis 1

36.7 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.05	1.7 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

infantile osteopetrosis with neuroaxonal dysplasia

36.1 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.03	1.1 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

autosomal recessive osteopetrosis 5

35.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
chicken	Gallus gallus	OMIA:000755-9031	Yes
domestic cattle	Bos taurus	OMIA:000755-9913	Yes
donkey	Equus asinus	OMIA:000755-9793	Yes
horse	Equus caballus	OMIA:000755-9796	Yes
Japanese quail	Coturnix japonica	OMIA:000755-93934	Yes
rabbit	Oryctolagus cuniculus	OMIA:000755-9986	Yes
yellow-crowned parrot	Amazona ochrocephala	OMIA:000755-151761	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
chicken	No gene	OMIA records no gene for this species entry.
domestic cattle	No gene	OMIA records no gene for this species entry.
donkey	No gene	OMIA records no gene for this species entry.
horse	No gene	OMIA records no gene for this species entry.
Japanese quail	MITF microphthalmia-associated transcription factor NCBI Gene 107319950	MITF Ensembl	one to one
rabbit	No gene	OMIA records no gene for this species entry.
yellow-crowned parrot	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:0009815	autosomal recessive osteopetrosis 1 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.	OMIA's OMIM numbers
MONDO:0009816	autosomal recessive osteopetrosis 2 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.	OMIA's OMIM numbers
MONDO:0009818	autosomal recessive osteopetrosis 3 Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.	OMIA's OMIM numbers
MONDO:0009817	autosomal recessive osteopetrosis 5 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.	OMIA's OMIM numbers
MONDO:0010866	infantile osteopetrosis with neuroaxonal dysplasia This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.	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
MITF	autosomal recessive osteopetrosis 2	0.06	5	Animal model 0.47
MITF	autosomal recessive osteopetrosis 3	0.05	4	Animal model 0.43
MITF	autosomal recessive osteopetrosis 1	0.05	3	Animal model 0.41
MITF	infantile osteopetrosis with neuroaxonal dysplasia	0.03	1	Animal model 0.27

Drugs

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