TS
MCID: TMT001
MIFTS: 55

Timothy Syndrome (TS) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Timothy Syndrome

Aliases & Descriptions for Timothy Syndrome:

Name: Timothy Syndrome 54 12 23 50 24 25 56 66 29 13 14 69
Long Qt Syndrome with Syndactyly 23 50 24 25 66
Lqt8 50 24 25 56 66
Long Qt Syndrome 8 50 24 66
Long Qt Syndrome Type 8 23 56
Ts 25 66
Long Qt Syndrome-Syndactyly Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
timothy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

GeneReviews:

23
timothy syndrome:
Mortality/Aging sudden death


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 54 601005
Disease Ontology 12 DOID:0060173
ICD10 33 G72.3
Orphanet 56 ORPHA65283
UMLS via Orphanet 70 C1832916
ICD10 via Orphanet 34 I45.8
MESH via Orphanet 43 C536962
MedGen 40 C1832916

Summaries for Timothy Syndrome

NIH Rare Diseases : 50 timothy syndrome is 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 timothy syndrome type 1 and timothy syndrome type 2, and has symptoms including prolonged qt interval and syndactyly. An important gene associated with Timothy Syndrome is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C), and among its related pathways/superpathways are CREB Pathway and Sweet Taste Signaling. The drugs Buprenorphine and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain.

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.

Genetics Home Reference : 25 Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system.

OMIM : 54 Timothy syndrome is characterized by multiorgan dysfunction, including lethal arrhythmias, webbing of fingers and toes,... (601005) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well... more...

GeneReviews: NBK1403

Related Diseases for Timothy Syndrome

Diseases in the Timothy Syndrome family:

Timothy Syndrome Type 1 Timothy Syndrome Type 2

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

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 timothy syndrome type 1 12.0
2 timothy syndrome type 2 11.9
3 gilles de la tourette syndrome 11.7
4 turner syndrome 11.6
5 trichostasis spinulosa 11.0
6 tuberous sclerosis-1 10.9
7 long qt syndrome 1 10.9
8 huriez syndrome 10.7
9 virus-associated trichodysplasia spinulosa 10.7
10 albinism, oculocutaneous, type ib 10.7
11 tsc2 angiomyolipomas, renal, modifier of 10.7
12 colorectal cancer 10.2
13 uterine fibroid 10.1 CACNA1C CACNB2
14 syndactyly 10.1
15 cardiac arrest 10.0
16 gastric cancer 10.0
17 malignant hyperthermia susceptibility 5 10.0 CACNA1C TRDN
18 proximal renal tubular acidosis 10.0 CACNA2D1 KCNQ1
19 long qt syndrome 10.0
20 neuronitis 10.0
21 breast cancer 9.9
22 lung cancer 9.9
23 multicentric carpotarsal osteolysis syndrome 9.9 KCNE1 KCNQ1
24 brugada syndrome 1 9.9 KCNE1 KCNQ1
25 parkinson disease 20, early-onset 9.8 KCNE1 KCNQ1
26 autosomal dominant nocturnal frontal lobe epilepsy 2 9.8 KCNQ1 TRDN
27 adenocarcinoma 9.8
28 squamous cell carcinoma 9.8
29 specific language impairment 4 9.8 KCNE1 KCNQ1
30 tardbp-related frontotemporal dementia 9.8 KCNE1 KCNQ1
31 isolated encephalocele 9.8 CACNA1C KCNE1 KCNQ1
32 keppen-lubinsky syndrome 9.8 CACNA1C KCNE1 KCNQ1
33 sick sinus syndrome 1 9.8 CACNA1C KCNE1 KCNQ1
34 short qt syndrome 2 9.8 CACNA1C KCNE1 KCNQ1
35 hyperthyroxinemia 9.7 CACNA1C KCNE1 KCNQ1
36 hepatitis 9.7
37 esophagitis 9.7
38 autistic disorder 9.7
39 atrial fibrillation 9.7
40 familial periodic paralysis 9.7 KCNE1 KCNQ1 TRDN
41 t-cell large granular lymphocyte leukemia 9.7 KCNE1 KCNQ1 TRDN
42 third-degree atrioventricular block 9.7 KCNE1 KCNQ1
43 tendinopathy 9.6
44 antiphospholipid syndrome 9.6
45 alcoholic hepatitis 9.6
46 glioblastoma multiforme 9.6
47 vaccinia 9.6
48 liver disease 9.6
49 tricuspid valve stenosis 9.6
50 thrombocytopenia 9.6

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



Diseases related to Timothy Syndrome

Symptoms & Phenotypes for Timothy Syndrome

Symptoms by clinical synopsis from OMIM:

601005

Clinical features from OMIM:

601005

Human phenotypes related to Timothy Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 prolonged qt interval 32 HP:0001657
2 syndactyly 32 HP:0001159

Drugs & Therapeutics for Timothy Syndrome

Drugs for Timothy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 265)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
2
Lamivudine Approved, Investigational Phase 4,Phase 2 134678-17-4 60825
3
Zidovudine Approved Phase 4,Phase 2 30516-87-1 35370
4
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
5
Didanosine Approved Phase 4 69655-05-6 50599
6
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
7
Tenofovir Approved, Investigational Phase 4 147127-20-6 464205
8
Suvorexant Approved Phase 4 1030377-33-3
9 Analgesics Phase 4,Phase 3,Phase 2
10 Analgesics, Opioid Phase 4
11 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
12 Narcotic Antagonists Phase 4
13 Narcotics Phase 4
14 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
17 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2
19 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
20 Reverse Transcriptase Inhibitors Phase 4,Phase 2
21 Anti-HIV Agents Phase 4,Phase 3,Phase 2
22 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
24
protease inhibitors Phase 4,Phase 3,Phase 2
25 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
26 Cytochrome P-450 Enzyme Inhibitors Phase 4
27 Atazanavir Sulfate Phase 4
28 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
29 Lamivudine, zidovudine drug combination Phase 4
30 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
31
Perhexiline Approved Phase 2, Phase 3 6621-47-2 4746
32
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
33
Ethambutol Approved Phase 3 74-55-5 3279 14052
34
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
35
Isoniazid Approved Phase 3 54-85-3 3767
36
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
37
Norgestimate Approved Phase 3 35189-28-7 6540478
38
Pyrazinamide Approved Phase 3 98-96-4 1046
39
Rifampin Approved Phase 3 13292-46-1 5458213 5381226
40
Aldesleukin Approved Phase 3,Phase 2 85898-30-2, 110942-02-4
41
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
42
Haloperidol Approved Phase 3 52-86-8 3559
43
Ziprasidone Approved Phase 3 146939-27-7 60854
44
4-Aminopyridine Approved Phase 3 504-24-5 1727
45
Fluorouracil Approved Phase 3 51-21-8 3385
46
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
47
Asparaginase Approved Phase 3 9015-68-3
48
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Early Phase 1 50-18-0, 6055-19-2 2907
49
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
50
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743

Interventional clinical trials:

(show top 50) (show all 98)
id Name Status NCT ID Phase
1 Buprenorphine and Integrated HIV Care Evaluation Unknown status NCT00124358 Phase 4
2 Sustiva Levels With Use of a Gel Capsule Completed NCT01087814 Phase 4
3 Prospective Evaluation of Anti-retroviral Combinations for Treatment Naive, HIV Infected Persons in Resource-limited Settings Completed NCT00084136 Phase 4
4 Suvorexant in Insomnia Co-morbid With Fibromyalgia Recruiting NCT02684136 Phase 4
5 Randomized Controlled Trial Comparing a Conservative Management and Laser Surgery Recruiting NCT01220011 Phase 4
6 Myocardial Protection With Perhexiline in Left Ventricular Hypertrophy Unknown status NCT00989508 Phase 2, Phase 3
7 Controlled Comparison of Two Moxifloxacin Containing Treatment Shortening Regimens in Pulmonary Tuberculosis Completed NCT00864383 Phase 3
8 Quadrivalent HPV Vaccine to Prevent Anal HPV in HIV-infected Men and Women Completed NCT01461096 Phase 3
9 An International Study to Evaluate Recombinant Interleukin-2 in HIV Positive Patients Taking Anti-retroviral Therapy Completed NCT00004978 Phase 3
10 The Modifying the Impact of ICU-Associated Neurological Dysfunction-USA (MIND-USA) Study Recruiting NCT01211522 Phase 3
11 Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes Recruiting NCT02562066 Phase 3
12 Imiquimod, Fluorouracil, or Observation in Treating HIV-Positive Patients With High-Grade Anal Squamous Skin Lesions Recruiting NCT02059499 Phase 3
13 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3
14 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3
15 Clofarabine or Daunorubicin Hydrochloride and Cytarabine Followed By Decitabine or Observation in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT02085408 Phase 3
16 Breast Cancer WEight Loss Study (BWEL Study) Recruiting NCT02750826 Phase 3
17 Intraoperative Low-dose Ketamine Infusion for Patients With Obstructive Sleep Apnea Recruiting NCT03109418 Phase 2, Phase 3
18 A Phase 3, Multinational, Multicenter, Open-Label Study of ProMetic BioTherapeutics IVIG Recruiting NCT02269163 Phase 3
19 Topical or Ablative Treatment in Preventing Anal Cancer in Patients With HIV and Anal High-Grade Squamous Intraepithelial Lesions Recruiting NCT02135419 Phase 3
20 A Study of Zidovudine/Lamivudine and Either Nevirapine or Nelfinavir for Reduction of Mother-to-child HIV Transmission During Breastfeeding Unknown status NCT00146380 Phase 2
21 Tretinoin in Treating Patients With Mycosis Fungoides or Sezary Syndrome Completed NCT00002479 Phase 2
22 A Safety Study of NNZ-2566 in Patients With Rett Syndrome Completed NCT01703533 Phase 2
23 Comparison of Rituximab Induction Therapy Followed by Glatiramer Acetate Therapy to Glatiramer Acetate Monotherapy for MS Completed NCT01569451 Phase 2
24 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2
25 Safety, Tolerability and Preliminary Efficacy of FP-1201 in ALI and ARDS. Phase I/II Completed NCT00789685 Phase 1, Phase 2
26 Sorafenib Tosylate in Treating Patients With Progressive Metastatic Neuroendocrine Tumors Completed NCT00131911 Phase 2
27 Gefitinib in Treating Patients With Progressive Metastatic Neuroendocrine Tumors Completed NCT00075439 Phase 2
28 Effectiveness of an HIV Prevention Program That Targets the Inner Workings of High-risk Social Networks Completed NCT00705705 Phase 2
29 CPI-613 in Treating Patients With Myelodysplastic Syndromes Who Failed Previous Therapy Recruiting NCT01902381 Phase 2
30 QUILT-3.035: Relapse Prophylaxis With ALT-803 for AML and MDS Pts Following Allo HSCT Recruiting NCT02989844 Phase 2
31 Non-Myeloablative Conditioning for Unrelated Donor Umbilical Cord Blood Transplant Recruiting NCT00305682 Phase 2
32 Allo HSCT Using RIC for Hematological Diseases Recruiting NCT02661035 Phase 2
33 UCB Transplant for Hematological Diseases Using a Non Myeloablative Prep Recruiting NCT02722668 Phase 2
34 Reduced Intensity (RIC) Conditioning And Transplantation of HLA-Haploidentical Related Hematopoietic Recruiting NCT02988466 Phase 2
35 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2
36 Genomic Predictors of Decitabine Response in Patients With Acute Myeloid Leukemia or Myelodysplastic Syndromes Recruiting NCT01687400 Phase 2
37 Treg Cell With IL-2 to Suppress aGVHD Umbilical Cord Blood Transplantation Recruiting NCT02991898 Phase 2
38 Reversing Tissue Fibrosis to Improve Immune Reconstitution in HIV Recruiting NCT01852942 Phase 2
39 Study of Vadastuximab Talirine (SGN-CD33A; 33A) in Combination With Azacitidine in Patients With Previously Untreated Higher Risk MDS Recruiting NCT02706899 Phase 1, Phase 2
40 Effect of OC000459 on Eosinophilic Airway Inflammation in Severe Asthma Recruiting NCT02560610 Phase 2
41 Azacitidine in Patients Undergoing Matched Unrelated Stem Cell Transplantation Recruiting NCT01747499 Phase 1, Phase 2
42 Rituximab, Bendamustine Hydrochloride, and Bortezomib Followed by Rituximab and Lenalidomide in Treating Older Patients With Previously Untreated Mantle Cell Lymphoma Recruiting NCT01415752 Phase 2
43 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Recruiting NCT02804178 Phase 2
44 Brentuximab Vedotin and Combination Chemotherapy in Treating Patients With Stage II-IV HIV-Associated Hodgkin Lymphoma Recruiting NCT01771107 Phase 1, Phase 2
45 Alemtuzumab in Treating Patients With Relapsed or Refractory Advanced Mycosis Fungoides or Sézary Syndrome Active, not recruiting NCT00057967 Phase 2
46 Lenalidomide in Treating Patients With Relapsed Mycosis Fungoides/Sezary Syndrome Active, not recruiting NCT00466921 Phase 2
47 Effectiveness of Communication Technology in Disseminating HIV Prevention Training to Non-governmental Organizations Active, not recruiting NCT00698529 Phase 2
48 Temozolomide in Treating Patients With Mycosis Fungoides or Sezary Syndrome Terminated NCT00004106 Phase 2
49 Interleukin-2 in Treating Patients With Mycosis Fungoides or Sezary Syndrome Terminated NCT00005788 Phase 2
50 KL₄Surfactant Treatment in Patients With ARDS Terminated NCT00215553 Phase 2

Search NIH Clinical Center for Timothy Syndrome

Genetic Tests for Timothy Syndrome

Genetic tests related to Timothy Syndrome:

id Genetic test Affiliating Genes
1 Timothy Syndrome 29 24 CACNA1C

Anatomical Context for Timothy Syndrome

MalaCards organs/tissues related to Timothy Syndrome:

39
Heart, Skin, Brain

Publications for Timothy Syndrome

Articles related to Timothy Syndrome:

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

Variations for Timothy Syndrome

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

66 (show all 11)
id 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
id 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 25)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13 CACNA1C CACNA2D1 CACNB2 CAMK2G
2
Show member pathways
12.76 CACNA1C CACNA2D1 CACNB2 CAMK2G
3
Show member pathways
12.71 CACNA2D1 CACNB2 CAMK2G KCNQ1
4
Show member pathways
12.63 CACNA1C CACNA2D1 CACNB2 CAMK2G
5
Show member pathways
12.56 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNQ1
6
Show member pathways
12.55 CACNA1C CACNA2D1 CACNB2 CAMK2G
7
Show member pathways
12.47 CACNA1C CAMK2G KCNQ1
8 12.42 CACNA1C CACNA2D1 CACNB2
9
Show member pathways
12.28 CACNA1C CACNB2 CAMK2G
10
Show member pathways
12.23 CACNA1C CACNA2D1 CACNB2
11
Show member pathways
12.23 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNQ1
12
Show member pathways
12.16 CACNA1C CACNA2D1 CACNB2
13 12.06 CACNA1C CACNB2 KCNE1 KCNQ1
14
Show member pathways
11.99 CACNA1C CACNA2D1 CACNB2 CAMK2G
15
Show member pathways
11.95 CACNA1C CACNA2D1 CACNB2
16 11.82 CACNA1C CACNA2D1 CACNB2
17
Show member pathways
11.77 CACNA1C CACNA2D1 CACNB2
18 11.52 CACNA1C CACNA2D1 CACNB2
19 11.46 CACNA1C CACNA2D1 CACNB2
20 11.32 CACNA1C CACNA2D1 CACNB2 KCNQ1
21 11.3 CACNA1C CACNA2D1 CACNB2
22 11.2 CACNA1C CACNB2 KCNE1 KCNQ1
23 11.15 CACNA1C CACNB2
24
Show member pathways
10.98 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNQ1
25 10.8 KCNE1 KCNQ1

GO Terms for Timothy Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 CACNA1C CACNA2D1 CACNB2 CAMK2G KCNE1 KCNQ1
2 voltage-gated potassium channel complex GO:0008076 9.37 KCNE1 KCNQ1
3 sarcoplasmic reticulum GO:0016529 9.33 CACNA2D1 CAMK2G TRDN
4 sarcoplasmic reticulum membrane GO:0033017 9.32 CAMK2G TRDN
5 L-type voltage-gated calcium channel complex GO:1990454 9.13 CACNA1C CACNA2D1 CACNB2
6 voltage-gated calcium channel complex GO:0005891 8.92 CACNA1C CACNA2D1 CACNB2 TRDN

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1
2 calcium ion transmembrane transport GO:0070588 9.74 CACNA1C CACNA2D1 CACNB2
3 calcium ion transport GO:0006816 9.67 CACNA1C CACNA2D1 CACNB2 CAMK2G
4 cellular response to cAMP GO:0071320 9.61 KCNE1 KCNQ1
5 regulation of calcium ion transport GO:0051924 9.6 CACNA2D1 CAMK2G
6 positive regulation of potassium ion transmembrane transport GO:1901381 9.59 KCNE1 KCNQ1
7 ventricular cardiac muscle cell action potential GO:0086005 9.58 KCNE1 KCNQ1
8 calcium ion transport into cytosol GO:0060402 9.58 CACNA1C CACNA2D1
9 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.56 KCNE1 KCNQ1
10 membrane repolarization GO:0086009 9.55 KCNE1 KCNQ1
11 regulation of ion transmembrane transport GO:0034765 9.55 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1
12 potassium ion export GO:0071435 9.54 KCNE1 KCNQ1
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.52 KCNE1 KCNQ1
14 membrane repolarization during action potential GO:0086011 9.51 KCNE1 KCNQ1
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.5 CACNA2D1 KCNE1 KCNQ1
16 membrane depolarization during AV node cell action potential GO:0086045 9.49 CACNA1C CACNB2
17 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.48 CACNA2D1 CACNB2
18 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.43 CACNA1C CACNB2
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.43 CACNA1C CACNA2D1 KCNE1
20 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.4 CACNA1C CACNA2D1
21 cardiac conduction GO:0061337 9.35 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1
22 regulation of heart rate by cardiac conduction GO:0086091 9.02 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1
23 transport GO:0006810 10 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.63 CACNA1C CAMK2G KCNQ1
2 calcium channel activity GO:0005262 9.54 CACNA1C CACNA2D1 CACNB2
3 potassium channel activity GO:0005267 9.49 KCNE1 KCNQ1
4 voltage-gated potassium channel activity GO:0005249 9.48 KCNE1 KCNQ1
5 delayed rectifier potassium channel activity GO:0005251 9.43 KCNE1 KCNQ1
6 high voltage-gated calcium channel activity GO:0008331 9.4 CACNA1C CACNB2
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.32 KCNE1 KCNQ1
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNQ1
9 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.16 CACNA1C CACNB2
10 voltage-gated calcium channel activity GO:0005245 9.13 CACNA1C CACNA2D1 CACNB2
11 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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