OMIA group 2886
Long QT syndrome, CACNA1C-related
The chain reaches the human disease Timothy syndrome, which Mondo defines as: “Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.”
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
1 Mondo disease.
-
Human gene
Reached
1 human gene.
-
Target evidence
Reached
1 Open Targets association, with a best score of 0.82.
-
Drugs
Reached
33 ChEMBL drugs, 29 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.
36.3 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 0.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002886-9823 | 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 |
|---|---|---|---|
| pig | CACNA1C calcium voltage-gated channel subunit alpha1 C NCBI Gene 100518733 | CACNA1C 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:0010979 | Timothy syndrome Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. | 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 |
|---|---|---|---|---|
| CACNA1C | Timothy syndrome | 0.82 | 587 | Genetic association 0.92 Genetic literature 0.84 Literature 0.54 Animal model 0.27 |
Drugs
Drugs act on CACNA1C, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Amlodipine | CACNA1C | blocker | Approved | No |
| Azelnidipine | CACNA1C | blocker | Approved | No |
| Barnidipine | CACNA1C | blocker | Approved | No |
| Benidipine | CACNA1C | blocker | Approved | No |
| Bepridil | CACNA1C | blocker | Approved | No |
| Cilnidipine | CACNA1C | blocker | Approved | No |
| Cinnarizine | CACNA1C | blocker | Approved | No |
| Clevidipine | CACNA1C | blocker | Approved | No |
| Diltiazem | CACNA1C | blocker | Approved | No |
| Dronedarone | CACNA1C | blocker | Approved | No |
| Felodipine | CACNA1C | blocker | Approved | No |
| Gabapentin | CACNA1C | modulator | Approved | No |
| Gabapentin Enacarbil | CACNA1C | modulator | Approved | No |
| Isradipine | CACNA1C | blocker | Approved | No |
| Lacidipine | CACNA1C | blocker | Approved | No |
| Lercanidipine | CACNA1C | blocker | Approved | No |
| Levamlodipine | CACNA1C | blocker | Approved | No |
| Manidipine 6300 | CACNA1C | blocker | Approved | No |
| Nicardipine | CACNA1C | blocker | Approved | No |
| Nifedipine | CACNA1C | blocker | Approved | No |
| Nilvadipine | CACNA1C | blocker | Approved | No |
| Nimodipine | CACNA1C | blocker | Approved | No |
| Nisoldipine | CACNA1C | blocker | Approved | No |
| Nitrendipine | CACNA1C | blocker | Approved | No |
| Phloroglucinol | CACNA1C | blocker | Approved | No |
| Pregabalin | CACNA1C | modulator | Approved | No |
| Suloctidil | CACNA1C | blocker | Approved | No |
| Terodiline | CACNA1C | blocker | Approved | No |
| Verapamil | CACNA1C | blocker | Approved | No |
| Imagabalin | CACNA1C | modulator | Phase 3 | No |
| Atagabalin | CACNA1C | modulator | Phase 2 | No |
| Azd1305 | CACNA1C | blocker | Phase 2 | No |
| Elpetrigine | CACNA1C | blocker | Phase 1 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.