MCID: CCN013
MIFTS: 12

Cacna1c-Related Disorders

Aliases & Classifications for Cacna1c-Related Disorders

MalaCards integrated aliases for Cacna1c-Related Disorders:

Name: Cacna1c-Related Disorders 25 6
Cacna1c-Related Disorder 6

Characteristics:

GeneReviews:

25
Penetrance The penetrance of pathogenic variants associated with typical timothy syndrome is 100%. [splawski et al 2005]. nonsyndromic forms have lower penetrance that can be estimated in the range of 60%-80% on the basis of published literature [fukuyama et al 2014, wemhöner et al 2015]....

Summaries for Cacna1c-Related Disorders

MalaCards based summary : Cacna1c-Related Disorders, also known as cacna1c-related disorder, is related to timothy syndrome and brugada syndrome. An important gene associated with Cacna1c-Related Disorders is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C). Affiliated tissues include heart.

GeneReviews: NBK1403

Related Diseases for Cacna1c-Related Disorders

Diseases related to Cacna1c-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 timothy syndrome 10.1
2 brugada syndrome 10.1
3 cardiac arrhythmia 10.0
4 cardiac conduction defect 10.0
5 chromosome 2q35 duplication syndrome 10.0
6 short qt syndrome 10.0
7 atrioventricular block 10.0
8 epilepsy 10.0
9 hypoglycemia 10.0
10 encephalopathy 10.0

Graphical network of the top 20 diseases related to Cacna1c-Related Disorders:



Diseases related to Cacna1c-Related Disorders

Symptoms & Phenotypes for Cacna1c-Related Disorders

Drugs & Therapeutics for Cacna1c-Related Disorders

Search Clinical Trials , NIH Clinical Center for Cacna1c-Related Disorders

Genetic Tests for Cacna1c-Related Disorders

Anatomical Context for Cacna1c-Related Disorders

MalaCards organs/tissues related to Cacna1c-Related Disorders:

40
Heart

Publications for Cacna1c-Related Disorders

Articles related to Cacna1c-Related Disorders:

(show all 30)
# Title Authors PMID Year
1
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. 25 61
30513141 2018
2
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation. 25
33203140 2020
3
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. 25
31953239 2020
4
Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome. 25
31868578 2019
5
L-type voltage-gated Ca2+ channel CaV1.2 regulates chondrogenesis during limb development. 25
31591237 2019
6
Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis. 25
32010184 2019
7
2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. 25
29097296 2018
8
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder. 25
30067485 2018
9
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability. 25
28846756 2017
10
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. 25
28569435 2017
11
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
12
Regulation of L-type Ca2+ Channel Activity and Insulin Secretion by Huntingtin-associated Protein 1. 25
27624941 2016
13
2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). 25
26320108 2015
14
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
15
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. 25
25633834 2015
16
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. 25
24728418 2014
17
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis. 25
25184293 2014
18
Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development. 25
23549079 2013
19
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. 25
22106044 2012
20
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). 25
21383000 2011
21
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel. 25
21372292 2011
22
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 25
20817017 2010
23
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene. 25
19733267 2009
24
Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy. 25
16360093 2005
25
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 25
15863612 2005
26
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 25
15454078 2004
27
Long QT syndrome associated with syndactyly identified in females. 25
7572644 1995
28
A new form of long QT syndrome associated with syndactyly. 25
7798527 1995
29
[The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet]. 25
1318983 1992
30
CACNA1C-Related Disorders 61
20301577 2006

Variations for Cacna1c-Related Disorders

ClinVar genetic disease variations for Cacna1c-Related Disorders:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1C NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) SNV Pathogenic 17632 rs79891110 GRCh37: 12:2614110-2614110
GRCh38: 12:2504944-2504944
2 CACNA1C NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) SNV not provided 450063 rs1555968941 GRCh37: 12:2763013-2763013
GRCh38: 12:2653847-2653847

Expression for Cacna1c-Related Disorders

Search GEO for disease gene expression data for Cacna1c-Related Disorders.

Pathways for Cacna1c-Related Disorders

GO Terms for Cacna1c-Related Disorders

Sources for Cacna1c-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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