Comparative

OMIA group 1270

Convulsions and ataxia, CACNA1A-related

The chain reaches the human disease developmental and epileptic encephalopathy, 42, which Mondo defines as: “Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.” 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.

  1. Animal disease

    Reached

    OMIA records it in 1 species entry marked as a defect.

  2. Human disease

    Reached

    3 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    3 Open Targets associations, with a best score of 0.84.

  5. Drugs

    Reached

    10 ChEMBL drugs, 7 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.

episodic ataxia type 2

73.5 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 2 for this disease 15.0 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
spinocerebellar ataxia type 6

65.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.77 26.9 of 35
Drugs A drug has reached phase 1 for this disease 10.0 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
developmental and epileptic encephalopathy, 42

59.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.81 28.3 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
domestic cattle Bos taurus OMIA:001270-9913 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
domestic cattle CACNA1A calcium voltage-gated channel subunit alpha1 A NCBI Gene 282648 CACNA1A 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.

Mondo disease Name Found by
MONDO:0014917 developmental and epileptic encephalopathy, 42 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene. OMIA's OMIM numbers
MONDO:0007163 episodic ataxia type 2 A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. OMIA's OMIM numbers
MONDO:0008457 spinocerebellar ataxia type 6 Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. 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
CACNA1A episodic ataxia type 2 0.84 3,595 Genetic association 0.94 Genetic literature 0.88 Animal model 0.63 Literature 0.33
CACNA1A developmental and epileptic encephalopathy, 42 0.81 3,270 Genetic association 0.92 Genetic literature 0.83 Animal model 0.59 Literature 0.03
CACNA1A spinocerebellar ataxia type 6 0.77 450 Genetic association 0.92 Animal model 0.63 Genetic literature 0.61 Literature 0.24

Drugs

Drugs act on CACNA1A, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Bepridil CACNA1A blocker Approved No
Gabapentin CACNA1A modulator Approved No
Gabapentin Enacarbil CACNA1A modulator Approved No
Phloroglucinol CACNA1A blocker Approved No
Pregabalin CACNA1A modulator Approved No
Suloctidil CACNA1A blocker Approved No
Terodiline CACNA1A blocker Approved No
Imagabalin CACNA1A modulator Phase 3 No
Atagabalin CACNA1A modulator Phase 2 No
Elpetrigine CACNA1A blocker Phase 1 No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.