OMIA group 785
Hyperkalemic Periodic Paralysis, HYPP
The chain reaches the human disease congenital myasthenic syndrome 16, which Mondo defines as: “Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.” It reaches 4 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
5 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
5 Open Targets associations, with a best score of 0.84.
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Drugs
Reached
55 ChEMBL drugs, 47 approved. At least one 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.
78.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.84 | 29.5 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 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 |
78.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.83 | 29.0 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 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 |
59.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.81 | 28.2 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 |
57.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.74 | 25.9 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 |
55.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.69 | 24.2 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 |
|---|---|---|---|
| horse | Equus caballus | OMIA:000785-9796 | 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 |
|---|---|---|---|
| horse | SCN4A sodium channel, voltage gated, type IV alpha subunit NCBI Gene 100049793 | SCN4A 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:0013620 | congenital myasthenic syndrome 16 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene. | OMIA's OMIM numbers |
| MONDO:0008224 | hyperkalemic periodic paralysis Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. | OMIA's OMIM numbers |
| MONDO:0013234 | hypokalemic periodic paralysis, type 2 | OMIA's OMIM numbers |
| MONDO:0008195 | paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). | OMIA's OMIM numbers |
| MONDO:0018959 | potassium-aggravated myotonia Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. | 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 |
|---|---|---|---|---|
| SCN4A | paramyotonia congenita of Von Eulenburg | 0.84 | 837 | Genetic association 0.93 Genetic literature 0.77 Animal model 0.73 Known drug 0.44 Literature 0.22 |
| SCN4A | hyperkalemic periodic paralysis | 0.83 | 2,456 | Genetic association 0.91 Genetic literature 0.84 Animal model 0.59 Literature 0.26 |
| SCN4A | potassium-aggravated myotonia | 0.81 | 687 | Genetic association 0.96 Genetic literature 0.73 Animal model 0.65 Literature 0.07 |
| SCN4A | hypokalemic periodic paralysis, type 2 | 0.74 | 676 | Genetic association 0.93 Genetic literature 0.78 Animal model 0.59 Literature 0.08 |
| SCN4A | congenital myasthenic syndrome 16 | 0.69 | 666 | Genetic association 0.91 Genetic literature 0.87 Animal model 0.53 Literature 0.02 |
Drugs
A drug acts on SCN4A and has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Mexiletine | SCN4A | blocker | Approved | Phase 3 for paramyotonia congenita of Von Eulenburg |
| Ranolazine | SCN4A | blocker | Approved | Phase 1 for paramyotonia congenita of Von Eulenburg |
| Articaine | SCN4A | blocker | Approved | No |
| Benoxinate | SCN4A | blocker | Approved | No |
| Bupivacaine | SCN4A | blocker | Approved | No |
| Carbamazepine | SCN4A | blocker | Approved | No |
| Cenobamate | SCN4A | inhibitor | Approved | No |
| Chloroprocaine | SCN4A | blocker | Approved | No |
| Cocaine | SCN4A | blocker | Approved | No |
| Disopyramide | SCN4A | blocker | Approved | No |
| Dronedarone | SCN4A | blocker | Approved | No |
| Dyclonine | SCN4A | blocker | Approved | No |
| Encainide | SCN4A | blocker | Approved | No |
| Eslicarbazepine | SCN4A | blocker | Approved | No |
| Eslicarbazepine Acetate | SCN4A | blocker | Approved | No |
| Ethotoin | SCN4A | blocker | Approved | No |
| Etidocaine | SCN4A | blocker | Approved | No |
| Fosphenytoin | SCN4A | blocker | Approved | No |
| Hexylcaine | SCN4A | blocker | Approved | No |
| Indecainide | SCN4A | blocker | Approved | No |
| Lacosamide | SCN4A | blocker | Approved | No |
| Lamotrigine | SCN4A | blocker | Approved | No |
| Levobupivacaine | SCN4A | blocker | Approved | No |
| Lidocaine | SCN4A | blocker | Approved | No |
| Mephenytoin | SCN4A | blocker | Approved | No |
| Mepivacaine | SCN4A | blocker | Approved | No |
| Moricizine | SCN4A | blocker | Approved | No |
| Orphenadrine | SCN4A | blocker | Approved | No |
| Oxcarbazepine | SCN4A | blocker | Approved | No |
| Phenacemide | SCN4A | blocker | Approved | No |
| Phenazopyridine | SCN4A | blocker | Approved | No |
| Phenytoin | SCN4A | blocker | Approved | No |
| Prilocaine | SCN4A | blocker | Approved | No |
| Primidone | SCN4A | blocker | Approved | No |
| Procainamide | SCN4A | blocker | Approved | No |
| Procaine | SCN4A | blocker | Approved | No |
| Propafenone | SCN4A | blocker | Approved | No |
| Proparacaine | SCN4A | blocker | Approved | No |
| Propoxycaine | SCN4A | blocker | Approved | No |
| Quinidine | SCN4A | blocker | Approved | No |
| Riluzole | SCN4A | blocker | Approved | No |
| Ropivacaine | SCN4A | blocker | Approved | No |
| Rufinamide | SCN4A | blocker | Approved | No |
| Tetracaine | SCN4A | blocker | Approved | No |
| Tocainide | SCN4A | blocker | Approved | No |
| Topiramate | SCN4A | blocker | Approved | No |
| Zonisamide | SCN4A | blocker | Approved | No |
| Evenamide | SCN4A | blocker | Phase 3 | No |
| Ralfinamide | SCN4A | blocker | Phase 3 | No |
| Nerispirdine | SCN4A | blocker | Phase 2 | No |
| Irampanel | SCN4A | blocker | Phase 1 | No |
| Nktr-171 | SCN4A | blocker | Investigational new drug | No |
| Dichlorobenzyl Alcohol | SCN4A | blocker | Unknown | No |
| Merethoxylline Procaine | SCN4A | blocker | Unknown | No |
| Quinidine Polygalacturonate | SCN4A | blocker | Unknown | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.