Comparative

OMIA group 419

Glycogen storage disease II

The chain reaches the human disease glycogen storage disease due to acid maltase deficiency, infantile onset, which Mondo defines as: “Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.”

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 6 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 0.68.

  5. Drugs

    Reached

    4 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.

glycogen storage disease due to acid maltase deficiency, infantile onset

61.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.68 23.8 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 One route found this disease 5.0 of 10
Species 6 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
dog Canis lupus familiaris OMIA:000419-9615 Yes
domestic cat Felis catus OMIA:000419-9685 Yes
domestic cattle Bos taurus OMIA:000419-9913 Yes
Japanese quail Coturnix japonica OMIA:000419-93934 Yes
sheep Ovis aries OMIA:000419-9940 Yes
zebu cattle Bos indicus OMIA:000419-9915 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 GAA glucosidase, alpha; acid NCBI Gene 483352 GAA Ensembl one to one
domestic cat GAA glucosidase, alpha; acid NCBI Gene 101086359 Ensembl does not know this NCBI Gene identifier.
domestic cattle GAA glucosidase, alpha; acid NCBI Gene 280798 GAA Ensembl one to one
Japanese quail GAA alpha glucosidase NCBI Gene 107321973 No human ortholog in Ensembl.
sheep No gene OMIA records no gene for this species entry.
zebu cattle 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:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. 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
GAA glycogen storage disease due to acid maltase deficiency, infantile onset 0.68 29 Genetic literature 0.94 Genetic association 0.53 Animal model 0.47 Literature 0.07

Drugs

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

Drug Acts on How Latest stage Tested for this disease
Miglitol GAA inhibitor Approved No
Voglibose GAA inhibitor Approved No
Duvoglustat GAA stabiliser Phase 3 No
Celgosivir GAA inhibitor Phase 2 No

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