OMIA group 2459
Congenital muscular dystrophy, LAMA2-related
The chain reaches the human disease congenital merosin-deficient muscular dystrophy 1A, which Mondo defines as: “Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.” 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.
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Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
2 Open Targets associations, with a best score of 0.82.
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Drugs
Reached
1 ChEMBL drug, 1 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.
60.3 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.82 | 28.8 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 | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
58.6 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.77 | 27.1 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 | 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:002459-9615 | 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 | LAMA2 laminin subunit alpha 2 NCBI Gene 100683420 | LAMA2 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:0011925 | congenital merosin-deficient muscular dystrophy 1A Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. | OMIA's OMIM numbers |
| MONDO:0029136 | muscular dystrophy, limb-girdle, autosomal recessive 23 | 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 |
|---|---|---|---|---|
| LAMA2 | congenital merosin-deficient muscular dystrophy 1A | 0.82 | 1,125 | Genetic association 0.91 Genetic literature 0.84 Animal model 0.55 Literature 0.24 |
| LAMA2 | muscular dystrophy, limb-girdle, autosomal recessive 23 | 0.77 | 341 | Genetic association 0.90 Animal model 0.64 Genetic literature 0.61 Literature 0.20 |
Drugs
Drugs act on LAMA2, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Ocriplasmin | LAMA2 | hydrolytic enzyme | Approved | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.