OMIA group 2215
Leukodystrophy, TSEN54-related
The chain reaches the human disease pontocerebellar hypoplasia type 4, which Mondo defines as: “Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.” 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 0.80.
-
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.
57.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.80 | 28.0 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 | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
56.3 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.78 | 27.3 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to 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 |
51.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.64 | 22.4 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:002215-9615 | 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 | TSEN54 TSEN54 tRNA splicing endonuclease subunit NCBI Gene 483315 | TSEN54 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:0010190 | pontocerebellar hypoplasia type 2A | OMIA's OMIM numbers |
| MONDO:0009166 | pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. | OMIA's OMIM numbers |
| MONDO:0012438 | pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. | 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 |
|---|---|---|---|---|
| TSEN54 | pontocerebellar hypoplasia type 4 | 0.80 | 60 | Genetic literature 0.87 Genetic association 0.86 Literature 0.08 |
| TSEN54 | pontocerebellar hypoplasia type 2A | 0.78 | 64 | Genetic association 0.88 Genetic literature 0.86 Literature 0.08 |
| TSEN54 | pontocerebellar hypoplasia type 5 | 0.64 | 41 | Genetic association 0.90 Genetic literature 0.61 Literature 0.06 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.