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Standards Ontologies Notations
Timothy syndrome

Summary
Definition
A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0060173
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
775 CACNA1C calcium voltage-gated channel subunit alpha1 C
776 CACNA1D calcium voltage-gated channel subunit alpha1 D
778 CACNA1F calcium voltage-gated channel subunit alpha1 F
779 CACNA1S calcium voltage-gated channel subunit alpha1 S
Displaying all 4 entries
Gene ID Gene Symbol Description Source
12288 Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit
12289 Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit
12292 Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit
54652 Cacna1f calcium channel, voltage-dependent, alpha 1F subunit
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24239 Cacna1c calcium voltage-gated channel subunit alpha1 C
114493 Cacna1f calcium voltage-gated channel subunit alpha1 F
682930 Cacna1s calcium voltage-gated channel subunit alpha1 S
Displaying 1 entry
Gene ID Gene Symbol Description Source
34950 Ca-alpha1D Ca[2+]-channel protein alpha[[1]] subunit D
Displaying all 5 entries
Gene ID Gene Symbol Description Source
170581 cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit
403310 cacna1da calcium channel, voltage-dependent, L type, alpha 1D subunit, a
405791 cacna1sb calcium channel, voltage-dependent, L type, alpha 1S subunit, b
559964 cacna1fb calcium channel, voltage-dependent, L type, alpha 1F subunit
570683 cacna1sa calcium channel, voltage-dependent, L type, alpha 1S subunit, a
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100462911 cacna1c.S calcium channel, voltage-dependent, L type, alpha 1C subunit S homeolog Xenopus laevis (African clawed frog)
100488055 cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit Xenopus tropicalis (tropical clawed frog)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024