OMIA group 1492

Axonopathy, segmental, ALS2-related

The chain reaches the human disease amyotrophic lateral sclerosis type 2, juvenile, which Mondo defines as: “Any amyotrophic lateral sclerosis in which the cause of the disease is a variation in the ALS2 gene.” 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 1 species entry marked as a defect.
Human disease

Reached

3 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

3 Open Targets associations, with a best score of 0.76.
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.

infantile-onset ascending hereditary spastic paralysis

55.5 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.76	26.5 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	1 naturally occurring species entry marked as a defect	4.0 of 10

amyotrophic lateral sclerosis type 2, juvenile

54.9 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 one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	1 naturally occurring species entry marked as a defect	4.0 of 10

juvenile primary lateral sclerosis

54.8 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.74	25.8 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	1 naturally occurring species entry marked as a defect	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
sheep	Ovis aries	OMIA:001492-9940	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
sheep	ALS2 alsin Rho guanine nucleotide exchange factor ALS2 NCBI Gene 101109592	ALS2 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.

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:0008780	amyotrophic lateral sclerosis type 2, juvenile Any amyotrophic lateral sclerosis in which the cause of the disease is a variation in the ALS2 gene.	OMIA's OMIM numbers
MONDO:0011797	infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.	OMIA's OMIM numbers
MONDO:0011663	juvenile primary lateral sclerosis Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	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
ALS2	infantile-onset ascending hereditary spastic paralysis	0.76	857	Genetic association 0.87 Genetic literature 0.79 Animal model 0.43 Literature 0.20
ALS2	amyotrophic lateral sclerosis type 2, juvenile	0.74	188	Genetic association 0.93 Genetic literature 0.83 Animal model 0.30 Literature 0.09
ALS2	juvenile primary lateral sclerosis	0.74	68	Genetic association 0.83 Genetic literature 0.82 Animal model 0.40 Literature 0.16

Drugs

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