Aliases & Classifications for Timothy Syndrome

MalaCards integrated aliases for Timothy Syndrome:

Name: Timothy Syndrome 53 12 23 49 24 55 71 28 13 14 69
Long Qt Syndrome with Syndactyly 53 23 49 24 71
Lqt8 53 49 24 55 71
Long Qt Syndrome 8 53 49 71
Ts 53 24 71
Long Qt Syndrome Type 8 23 55
Long Qt Syndrome-Syndactyly Syndrome 55
Long Qt Syndrome 8; Lqt8 53

Characteristics:

Orphanet epidemiological data:

55
timothy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation, most patients have a gly406arg mutation in cacna1c
some patients with milder phenotypes exhibit somatic mosaicism


HPO:

31
timothy syndrome:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance No study has specifically investigated the issue of the penetrance of ts. of note, however, penetrance was 100% in the 18 affected individuals with timothy syndrome reported to date [splawski et al 2004, lo-a-njoe et al 2005, splawski et al 2005] and it has remained very high (22 of 23 individuals with pathogenic variants had clearly abnormal electrocardiogram) in the two reports of gain-of-function cacn1c pathogenic variants in association with qt prolongation without extracardiac abnormalities [fukuyama et al 2014, wemhöner et al 2015]...

Classifications:



External Ids:

OMIM 53 601005
Disease Ontology 12 DOID:0060173
ICD10 32 G72.3
Orphanet 55 ORPHA65283
MESH via Orphanet 42 C536962
UMLS via Orphanet 70 C1832916
ICD10 via Orphanet 33 I45.8
MedGen 39 C1832916
UMLS 69 C1832916

Summaries for Timothy Syndrome

NIH Rare Diseases : 49 Timothy syndromeis a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome. Long QT syndrome refers to a prolonged QT interval measurement seen on the electrocardiogram. Symptoms of Timothy syndrome include fusion of the skin between fingers or toes (syndactyly), distinctive facial features, and congenital heart defects. Additional symptoms may include developmental delay, intellectual disability, and autism spectrum disorders. There are two forms of Timothy syndrome, classified based on signs and symptoms. Type 1, known as classic type, includes all of the symptoms described above. Type 2, or atypical type, causes a more severe form of long QT syndrome and does not appear to include syndactyly. Both types are caused by mutations in the CACNA1C gene and are inherited in an autosomal dominant manner. Treatment is focused on managing cardiac symptoms. This might include medications such as beta-blockers, placement of defibrillators, and pacemakers. Last updated: 6/21/2016

MalaCards based summary : Timothy Syndrome, also known as long qt syndrome with syndactyly, is related to ventricular fibrillation, paroxysmal familial, 1 and long qt syndrome, and has symptoms including seizures, hypothyroidism and intellectual disability. An important gene associated with Timothy Syndrome is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C), and among its related pathways/superpathways are Integrin Pathway and CREB Pathway. Affiliated tissues include heart, skin and brain, and related phenotype is cardiovascular system.

OMIM : 53 Timothy syndrome is characterized by multiorgan dysfunction, including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism (Splawski et al., 2004). (601005)

UniProtKB/Swiss-Prot : 71 Timothy syndrome: Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.

Genetics Home Reference : 24 Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system.

Disease Ontology : 12 An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.

Wikipedia : 72 Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well... more...

GeneReviews: NBK1403

Related Diseases for Timothy Syndrome

Diseases related to Timothy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 28.7 KCNE1 KCNH2 KCNQ1
2 long qt syndrome 28.7 CACNA1C KCNE1 KCNH2 KCNQ1
3 atrial fibrillation 28.5 KCNE1 KCNH2 KCNQ1
4 gilles de la tourette syndrome 12.0
5 virus-associated trichodysplasia spinulosa 11.6
6 turner syndrome 11.2
7 trichostasis spinulosa 11.1
8 tuberous sclerosis 1 11.1
9 temperature sensitivity complementation, cell cycle specific, k12 11.0
10 growth control, y-chromosome influenced 11.0
11 albinism, oculocutaneous, type ib 10.8
12 tuberous sclerosis 2 10.8
13 colorectal cancer 10.3
14 chromosome 2q35 duplication syndrome 10.2
15 gastric cancer 10.1
16 cardiac arrest 10.1
17 neuronitis 10.0
18 lung cancer 10.0
19 blood group, i system 9.9
20 autism 9.9
21 small cell cancer of the lung 9.9
22 squamous cell carcinoma 9.9
23 adenocarcinoma 9.9
24 pancreatic cancer 9.8
25 hepatitis 9.8
26 esophagitis 9.8
27 pancreatitis 9.8
28 aural atresia, congenital 9.8
29 autism spectrum disorder 9.8
30 right bundle branch block 9.7 CACNA1C CACNB2
31 esophageal cancer 9.7
32 glioma susceptibility 1 9.7
33 popliteal pterygium syndrome, lethal type 9.7
34 premature ovarian failure 1 9.7
35 ovarian cancer 1 9.7
36 human immunodeficiency virus type 1 9.7
37 mutagen sensitivity 9.7
38 tendinopathy 9.7
39 acute lymphocytic leukemia 9.7
40 alcoholic hepatitis 9.7
41 leukemia 9.7
42 liver disease 9.7
43 thrombocytopenia 9.7
44 angiosarcoma 9.7
45 sarcoma 9.7
46 conn's syndrome 9.7
47 neuroendocrine tumor 9.7
48 antiphospholipid syndrome 9.7
49 glioblastoma multiforme 9.7
50 vaccinia 9.7

Graphical network of the top 20 diseases related to Timothy Syndrome:



Diseases related to Timothy Syndrome

Symptoms & Phenotypes for Timothy Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
round face

Skeletal Hands:
cutaneous syndactyly

Neurologic Central Nervous System:
developmental delay
mental retardation (in some patients)
seizures (in some patients)
autism or autism spectrum disorder

Head And Neck Teeth:
small teeth

Cardiovascular Heart:
tetralogy of fallot (rare)
patent foramen ovale (in some patients)
cardiac arrhythmias resulting in sudden death
long qt interval, severe
ventricular tachyarrhythmia
more
Muscle Soft Tissue:
hypotonia (in some patients)

Respiratory Lung:
pneumonia (in some patients)

Endocrine Features:
hypothyroidism (in some patients)

Immunology:
recurrent infections

Skeletal Feet:
cutaneous syndactyly

Head And Neck Mouth:
thin upper lip
receding upper jaw

Head And Neck Nose:
flat nasal bridge

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)
pulmonary hypertension (in some patients)

Respiratory Airways:
bronchitis (in some patients)

Skin Nails Hair Hair:
no hair at birth

Laboratory Abnormalities:
hypocalcemia (in some patients)
hypoglycemia (in some patients)


Clinical features from OMIM:

601005

Human phenotypes related to Timothy Syndrome:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 hypothyroidism 31 occasional (7.5%) HP:0000821
3 intellectual disability 31 occasional (7.5%) HP:0001249
4 global developmental delay 31 HP:0001263
5 depressed nasal bridge 31 HP:0005280
6 cardiomegaly 31 occasional (7.5%) HP:0001640
7 hypoglycemia 31 occasional (7.5%) HP:0001943
8 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
9 microdontia 31 HP:0000691
10 prolonged qt interval 31 HP:0001657
11 round face 31 HP:0000311
12 tetralogy of fallot 31 occasional (7.5%) HP:0001636
13 ventricular septal defect 31 occasional (7.5%) HP:0001629
14 hypocalcemia 31 occasional (7.5%) HP:0002901
15 recurrent infections 31 HP:0002719
16 thin upper lip vermilion 31 HP:0000219
17 pneumonia 31 occasional (7.5%) HP:0002090
18 generalized hypotonia 31 occasional (7.5%) HP:0001290
19 patent foramen ovale 31 occasional (7.5%) HP:0001655
20 cutaneous syndactyly 31 HP:0012725
21 bronchitis 31 occasional (7.5%) HP:0012387

MGI Mouse Phenotypes related to Timothy Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.02 CACNA1C CACNA2D1 CACNB2 KCNH2 KCNQ1

Drugs & Therapeutics for Timothy Syndrome

Search Clinical Trials , NIH Clinical Center for Timothy Syndrome

Genetic Tests for Timothy Syndrome

Genetic tests related to Timothy Syndrome:

# Genetic test Affiliating Genes
1 Timothy Syndrome 28 CACNA1C

Anatomical Context for Timothy Syndrome

MalaCards organs/tissues related to Timothy Syndrome:

38
Heart, Skin, Brain

Publications for Timothy Syndrome

Articles related to Timothy Syndrome:

(show all 49)
# Title Authors Year
1
Inhibition of CDK5 Alleviates the Cardiac Phenotypes in Timothy Syndrome. ( 28648896 )
2017
2
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing. ( 27868338 )
2017
3
Auditory processing enhancements in the TS2-neo mouse model of Timothy Syndrome, a rare genetic disorder associated with autism spectrum disorders. ( 29159279 )
2017
4
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations. ( 28211989 )
2017
5
A multicentre study of patients with Timothy syndrome. ( 28371864 )
2017
6
A case report: Is mexiletine usage effective in the shortening of QTC interval and improving the T-wave alternans in Timothy syndrome? ( 29194862 )
2017
7
Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormalities. ( 28921675 )
2017
8
A case of Timothy syndrome with adrenal medullary dystrophy. ( 27593853 )
2016
9
Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2). ( 27034553 )
2016
10
Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. ( 26822303 )
2016
11
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. ( 25633834 )
2015
12
A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8). ( 26301350 )
2015
13
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2? ( 26227324 )
2015
14
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1. ( 25882468 )
2015
15
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. ( 25691416 )
2015
16
Dentition abnormalities in a Timothy syndrome patient with a novel genetic mutation: a case report. ( 24960393 )
2014
17
Timothy Syndrome: A Life-Threatening Syndactyly Association: A Case Report. ( 29252561 )
2014
18
Novel Timothy syndrome mutation leading to increase in CACNA1C window current. ( 25260352 )
2014
19
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). ( 24773605 )
2014
20
Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome. ( 25360157 )
2014
21
Cellular mechanisms of ventricular arrhythmias in a mouse model of Timothy syndrome (long QT syndrome 8). ( 24215710 )
2014
22
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. ( 23313911 )
2013
23
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. ( 23580742 )
2013
24
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. ( 23690510 )
2013
25
Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome. ( 23678275 )
2013
26
Modeling Timothy syndrome with iPS cells. ( 23299782 )
2013
27
Ca(V)1.2 I-II linker structure and Timothy syndrome. ( 22990809 )
2012
28
A Mouse Model of Timothy Syndrome: a Complex Autistic Disorder Resulting from a Point Mutation in Cav1.2. ( 24371506 )
2012
29
Two mechanistically distinct effects of dihydropyridine nifedipine on CaV1.2 L-type CaA^a8_ channels revealed by Timothy syndrome mutation. ( 22554770 )
2012
30
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. ( 22106044 )
2012
31
Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). ( 20883512 )
2012
32
Case scenario: anesthesia-related cardiac arrest in a child with Timothy syndrome. ( 23011317 )
2012
33
L-type Ca2+ channel function during Timothy syndrome. ( 22999068 )
2012
34
Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein. ( 21700933 )
2011
35
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. ( 21910241 )
2011
36
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. ( 21307850 )
2011
37
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. ( 22120178 )
2011
38
Mouse model of Timothy syndrome recapitulates triad of autistic traits. ( 21878566 )
2011
39
A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8). ( 21915623 )
2011
40
Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome. ( 20110531 )
2010
41
The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. ( 19074970 )
2009
42
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. ( 18250309 )
2008
43
Proarrhythmic defects in Timothy syndrome require calmodulin kinase II. ( 19001023 )
2008
44
Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel. ( 18536931 )
2008
45
Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine. ( 17467634 )
2007
46
A life-threatening complication of the arterial tourniquet in Timothy syndrome. ( 17474959 )
2007
47
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). ( 16876748 )
2006
48
Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices. ( 16537462 )
2006
49
Timothy Syndrome ( 20301577 )
1993

Variations for Timothy Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Timothy Syndrome:

71 (show all 11)
# Symbol AA change Variation ID SNP ID
1 CACNA1C p.Gly402Ser VAR_026741
2 CACNA1C p.Gly406Arg VAR_026742
3 CACNA1C p.Ile1186Thr VAR_072381
4 CACNA1C p.Arg518Cys VAR_075154
5 CACNA1C p.Arg518His VAR_075155
6 CACNA1C p.Ala582Asp VAR_075156
7 CACNA1C p.Arg858His VAR_075158
8 CACNA1C p.Arg860Gly VAR_075159
9 CACNA1C p.Ile1186Val VAR_075160
10 CACNA1C p.Ile1523Met VAR_075162
11 CACNA1C p.Glu1544Lys VAR_075163

ClinVar genetic disease variations for Timothy Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1C NM_000719.6(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs79891110 GRCh37 Chromosome 12, 2614110: 2614110
2 CACNA1C NM_000719.6(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs80315385 GRCh37 Chromosome 12, 2614098: 2614098
3 CACNA1C NM_001167625.1(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs786205745 GRCh37 Chromosome 12, 2613704: 2613704
4 CACNA1C NM_001167623.1(CACNA1C): c.1216G> C (p.Gly406Arg) single nucleotide variant Pathogenic rs786205745 GRCh37 Chromosome 12, 2613704: 2613704
5 CACNA1C NM_000719.6(CACNA1C): c.4418C> G (p.Ala1473Gly) single nucleotide variant Pathogenic/Likely pathogenic rs794727587 GRCh37 Chromosome 12, 2774766: 2774766

Expression for Timothy Syndrome

Search GEO for disease gene expression data for Timothy Syndrome.

Pathways for Timothy Syndrome

Pathways related to Timothy Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 CACNA1C CACNA2D1 CACNB2 CAMK2G
2
Show member pathways
13.01 CACNA1C CACNA2D1 CACNB2 CAMK2G
3
Show member pathways
12.76 CACNA1C CACNA2D1 CACNB2 CAMK2G
4
Show member pathways
12.71 CACNA2D1 CACNB2 CAMK2G KCNH2 KCNQ1
5
Show member pathways
12.65 CACNA1C CACNA2D1 CACNB2 CAMK2G
6
Show member pathways
12.52 CACNA1C CACNA2D1 CACNB2 CAMK2G
7
Show member pathways
12.48 CACNA1C CAMK2G KCNQ1
8 12.47 CACNA1C CACNA2D1 CACNB2
9
Show member pathways
12.45 CACNA1C CACNA2D1 CACNB2 CAMK2G
10
Show member pathways
12.43 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNH2
11
Show member pathways
12.41 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNQ1
12
Show member pathways
12.29 CACNA1C CACNB2 CAMK2G
13
Show member pathways
12.24 CACNA1C CACNA2D1 CACNB2
14
Show member pathways
12.16 CACNA1C CACNA2D1 CACNB2
15 12.12 CACNA1C CACNB2 KCNE1 KCNH2 KCNQ1
16
Show member pathways
12.03 CACNA1C CACNA2D1 CACNB2 CAMK2G
17
Show member pathways
11.96 CACNA1C CACNA2D1 CACNB2
18 11.86 CACNA1C CACNA2D1 CACNB2
19
Show member pathways
11.81 CACNA1C CACNA2D1 CACNB2
20 11.56 CACNA1C CACNA2D1 CACNB2
21 11.39 CACNA1C CACNA2D1 CACNB2 KCNQ1
22 11.3 CACNA1C CACNA2D1 CACNB2
23 11.17 CACNA1C CACNB2
24 11.15 CACNA1C CACNA2D1 CACNB2
25 11.1 CACNA1C CACNB2 KCNE1 KCNH2 KCNQ1
26
Show member pathways
10.98 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNQ1
27 10.84 KCNE1 KCNQ1

GO Terms for Timothy Syndrome

Cellular components related to Timothy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNH2
2 voltage-gated potassium channel complex GO:0008076 9.33 KCNE1 KCNH2 KCNQ1
3 sarcoplasmic reticulum GO:0016529 9.32 CACNA2D1 CAMK2G
4 voltage-gated calcium channel complex GO:0005891 9.13 CACNA1C CACNA2D1 CACNB2
5 L-type voltage-gated calcium channel complex GO:1990454 8.8 CACNA1C CACNA2D1 CACNB2

Biological processes related to Timothy Syndrome according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
2 calcium ion transport GO:0006816 9.84 CACNA1C CACNA2D1 CACNB2 CAMK2G
3 potassium ion transport GO:0006813 9.8 KCNE1 KCNH2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.79 KCNE1 KCNH2 KCNQ1
5 calcium ion transmembrane transport GO:0070588 9.78 CACNA1C CACNA2D1 CACNB2
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 CACNA1C CACNA2D1 KCNE1
7 ventricular cardiac muscle cell action potential GO:0086005 9.69 KCNE1 KCNH2 KCNQ1
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.67 KCNE1 KCNH2 KCNQ1
9 cellular response to drug GO:0035690 9.65 KCNH2 KCNQ1
10 membrane repolarization GO:0086009 9.65 KCNE1 KCNH2 KCNQ1
11 cellular response to cAMP GO:0071320 9.64 KCNE1 KCNQ1
12 cardiac muscle contraction GO:0060048 9.64 KCNH2 KCNQ1
13 regulation of calcium ion transport GO:0051924 9.63 CACNA2D1 CAMK2G
14 regulation of potassium ion transmembrane transport GO:1901379 9.63 KCNE1 KCNH2
15 regulation of ion transmembrane transport GO:0034765 9.63 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
16 calcium ion transport into cytosol GO:0060402 9.62 CACNA1C CACNA2D1
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.61 KCNE1 KCNH2 KCNQ1
18 regulation of membrane repolarization GO:0060306 9.6 KCNH2 KCNQ1
19 membrane depolarization during AV node cell action potential GO:0086045 9.58 CACNA1C CACNB2
20 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.58 CACNA2D1 CACNB2
21 potassium ion export GO:0071435 9.58 KCNE1 KCNH2 KCNQ1
22 potassium ion export across plasma membrane GO:0097623 9.57 KCNH2 KCNQ1
23 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.56 CACNA1C CACNB2
24 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.56 CACNA2D1 KCNE1 KCNH2 KCNQ1
25 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.55 CACNA1C CACNA2D1
26 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.54 KCNE1 KCNH2 KCNQ1
27 membrane repolarization during action potential GO:0086011 9.5 KCNE1 KCNH2 KCNQ1
28 cardiac conduction GO:0061337 9.43 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
29 regulation of heart rate by cardiac conduction GO:0086091 9.1 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
30 transport GO:0006810 10.07 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1

Molecular functions related to Timothy Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.69 CACNA1C CAMK2G KCNQ1
2 voltage-gated ion channel activity GO:0005244 9.67 CACNA1C KCNH2 KCNQ1
3 calcium channel activity GO:0005262 9.63 CACNA1C CACNA2D1 CACNB2
4 potassium channel activity GO:0005267 9.61 KCNE1 KCNH2 KCNQ1
5 voltage-gated potassium channel activity GO:0005249 9.58 KCNE1 KCNH2 KCNQ1
6 scaffold protein binding GO:0097110 9.52 KCNH2 KCNQ1
7 voltage-gated calcium channel activity GO:0005245 9.5 CACNA1C CACNA2D1 CACNB2
8 high voltage-gated calcium channel activity GO:0008331 9.48 CACNA1C CACNB2
9 delayed rectifier potassium channel activity GO:0005251 9.43 KCNE1 KCNH2 KCNQ1
10 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.37 CACNA1C CACNB2
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.33 KCNE1 KCNH2 KCNQ1
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.13 KCNE1 KCNH2 KCNQ1
13 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 8.8 CACNA1C CACNA2D1 CACNB2

Sources for Timothy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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