OMIA group 2194
Ataxia, spinocerebellar, SCN8A-related
The chain reaches the human disease developmental and epileptic encephalopathy, 13, which Mondo defines as: “Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.” It reaches 3 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.
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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
4 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
3 Open Targets associations, with a best score of 0.84.
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Drugs
Reached
53 ChEMBL drugs, 44 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.
61.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.84 | 29.5 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 |
58.3 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.77 | 26.8 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 |
57.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.73 | 25.5 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 |
31.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 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:002194-9615 | 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 | SCN8A sodium channel, voltage gated, type VIII alpha subunit NCBI Gene 477604 | SCN8A 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:0013680 | cognitive impairment with or without cerebellar ataxia | OMIA's OMIM numbers |
| MONDO:0013801 | developmental and epileptic encephalopathy, 13 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene. | OMIA's OMIM numbers |
| MONDO:0100092 | myoclonus, familial, 2 Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. | OMIA's OMIM numbers |
| MONDO:0014903 | seizures, benign familial infantile, 5 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene. | 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 |
|---|---|---|---|---|
| SCN8A | developmental and epileptic encephalopathy, 13 | 0.84 | 332 | Genetic association 0.98 Genetic literature 0.83 Animal model 0.70 Literature 0.11 |
| SCN8A | seizures, benign familial infantile, 5 | 0.77 | 113 | Genetic association 0.89 Genetic literature 0.85 Animal model 0.75 Literature 0.07 |
| SCN8A | cognitive impairment with or without cerebellar ataxia | 0.73 | 150 | Genetic association 0.91 Genetic literature 0.81 Animal model 0.57 |
Drugs
Drugs act on SCN8A, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Articaine | SCN8A | blocker | Approved | No |
| Benoxinate | SCN8A | blocker | Approved | No |
| Carbamazepine | SCN8A | blocker | Approved | No |
| Cenobamate | SCN8A | inhibitor | Approved | No |
| Chloroprocaine | SCN8A | blocker | Approved | No |
| Cocaine | SCN8A | blocker | Approved | No |
| Disopyramide | SCN8A | blocker | Approved | No |
| Dronedarone | SCN8A | blocker | Approved | No |
| Dyclonine | SCN8A | blocker | Approved | No |
| Encainide | SCN8A | blocker | Approved | No |
| Eslicarbazepine | SCN8A | blocker | Approved | No |
| Eslicarbazepine Acetate | SCN8A | blocker | Approved | No |
| Ethotoin | SCN8A | blocker | Approved | No |
| Etidocaine | SCN8A | blocker | Approved | No |
| Fosphenytoin | SCN8A | blocker | Approved | No |
| Hexylcaine | SCN8A | blocker | Approved | No |
| Indecainide | SCN8A | blocker | Approved | No |
| Lacosamide | SCN8A | blocker | Approved | No |
| Lamotrigine | SCN8A | blocker | Approved | No |
| Lidocaine | SCN8A | blocker | Approved | No |
| Mephenytoin | SCN8A | blocker | Approved | No |
| Mepivacaine | SCN8A | blocker | Approved | No |
| Mexiletine | SCN8A | blocker | Approved | No |
| Moricizine | SCN8A | blocker | Approved | No |
| Orphenadrine | SCN8A | blocker | Approved | No |
| Oxcarbazepine | SCN8A | blocker | Approved | No |
| Phenacemide | SCN8A | blocker | Approved | No |
| Phenazopyridine | SCN8A | blocker | Approved | No |
| Phenytoin | SCN8A | blocker | Approved | No |
| Prilocaine | SCN8A | blocker | Approved | No |
| Primidone | SCN8A | blocker | Approved | No |
| Procainamide | SCN8A | blocker | Approved | No |
| Procaine | SCN8A | blocker | Approved | No |
| Propafenone | SCN8A | blocker | Approved | No |
| Proparacaine | SCN8A | blocker | Approved | No |
| Propoxycaine | SCN8A | blocker | Approved | No |
| Quinidine | SCN8A | blocker | Approved | No |
| Riluzole | SCN8A | blocker | Approved | No |
| Ropivacaine | SCN8A | blocker | Approved | No |
| Rufinamide | SCN8A | blocker | Approved | No |
| Tetracaine | SCN8A | blocker | Approved | No |
| Tocainide | SCN8A | blocker | Approved | No |
| Topiramate | SCN8A | blocker | Approved | No |
| Zonisamide | SCN8A | blocker | Approved | No |
| Evenamide | SCN8A | blocker | Phase 3 | No |
| Ralfinamide | SCN8A | blocker | Phase 3 | No |
| Nerispirdine | SCN8A | blocker | Phase 2 | No |
| Zandatrigine | SCN8A | inhibitor | Phase 2 | No |
| Irampanel | SCN8A | blocker | Phase 1 | No |
| Nktr-171 | SCN8A | blocker | Investigational new drug | No |
| Dichlorobenzyl Alcohol | SCN8A | blocker | Unknown | No |
| Merethoxylline Procaine | SCN8A | blocker | Unknown | No |
| Quinidine Polygalacturonate | SCN8A | blocker | Unknown | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.