Human disease
paramyotonia congenita of Von Eulenburg
Mondo defines it as: “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).”
1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 785 | Hyperkalemic Periodic Paralysis, HYPP | OMIA's OMIM numbers | 1 | Drug |
78.5
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| SCN4A | 0.84 | 837 |
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
| Drug | Acts on | Latest stage for this disease |
|---|---|---|
| Dichlorphenamide | None of these genes | Phase 3 |
| Mexiletine | SCN4A | Phase 3 |
| Ranolazine | SCN4A | Phase 1 |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.