CCDD
MCID: CRD178
MIFTS: 40

Cardiac Conduction Disease with or Without Dilated Cardiomyopathy (CCDD)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiac Conduction Disease with or Without Dilated...

MalaCards integrated aliases for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

Name: Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 57 72 29 6 39 70
Ccdd 57 72
Familial Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease 58
Arrhythmias, Cardiac 44

Characteristics:

Orphanet epidemiological data:

58
familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of arrhythmias in first decade of life
dilated cardiomyopathy can occur as early as second decade of life
early sudden death may occur (1.5 years, 16 years, and 13 years reported in some patients)


HPO:

31
cardiac conduction disease with or without dilated cardiomyopathy:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiac Conduction Disease with or Without Dilated...

UniProtKB/Swiss-Prot : 72 Cardiac conduction disease with or without dilated cardiomyopathy: A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy.

MalaCards based summary : Cardiac Conduction Disease with or Without Dilated Cardiomyopathy, also known as ccdd, is related to oculomotor-levator synkinesis and oculomotor-abducens synkinesis. An important gene associated with Cardiac Conduction Disease with or Without Dilated Cardiomyopathy is TNNI3K (TNNI3 Interacting Kinase). The drugs Carbetocin and Colchicine have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and eye, and related phenotypes are congestive heart failure and cardiac arrest

More information from OMIM: 616117

Related Diseases for Cardiac Conduction Disease with or Without Dilated...

Diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 oculomotor-levator synkinesis 10.9
2 oculomotor-abducens synkinesis 10.9
3 ptosis 10.1
4 duane retraction syndrome 1 10.0
5 congenital ptosis 10.0
6 brown's tendon sheath syndrome 10.0
7 ocular motility disease 10.0
8 cardiac conduction defect 10.0
9 moebius syndrome 9.9
10 kearns-sayre syndrome 9.9
11 tukel syndrome 9.9
12 scoliosis 9.9
13 facial paralysis 9.9
14 eye disease 9.9
15 horizontal gaze palsy with progressive scoliosis 9.9
16 sarcoidosis 1 9.8
17 ventricular fibrillation, paroxysmal familial, 1 9.8
18 syncope 9.8
19 dilated cardiomyopathy 9.4 TNNI3K FPGT-TNNI3K

Graphical network of the top 20 diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:



Diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy

Symptoms & Phenotypes for Cardiac Conduction Disease with or Without Dilated...

Human phenotypes related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 occasional (7.5%) HP:0001635
2 cardiac arrest 31 very rare (1%) HP:0001695
3 dilated cardiomyopathy 31 HP:0001644
4 atrial fibrillation 31 HP:0005110
5 right bundle branch block 31 HP:0011712
6 ventricular extrasystoles 31 HP:0006682
7 sinus bradycardia 31 HP:0001688
8 atrial flutter 31 HP:0004749
9 prolonged qtc interval 31 HP:0005184
10 left anterior fascicular block 31 HP:0011711
11 atrial arrhythmia 31 HP:0001692
12 paroxysmal supraventricular tachycardia 31 HP:0004763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
atrial fibrillation
right bundle branch block
sinus bradycardia
atrial flutter
prolonged qtc interval
more

Clinical features from OMIM®:

616117 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiac Conduction Disease with or Without Dilated...

Drugs for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 300)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbetocin Approved, Investigational Phase 4 37025-55-1 71715 16681432
2
Colchicine Approved Phase 4 64-86-8 6167 2833
3
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
4
Ethanol Approved Phase 4 64-17-5 702
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
6
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
7
Vancomycin Approved Phase 4 1404-90-6 441141 14969
8
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
9
Ajmaline Approved, Experimental Phase 4 4360-12-7 441080
10
Flecainide Approved, Withdrawn Phase 4 54143-55-4 3356
11
Atorvastatin Approved Phase 4 134523-00-5 60823
12
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
13
Tocopherol Approved, Investigational Phase 4 1406-66-2
14
Cefazolin Approved Phase 4 25953-19-9 656510 33255
15
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
16
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
17
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
18
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
19
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
20
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
21
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
22
Empagliflozin Approved Phase 4 864070-44-0
23
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
24
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
25
Methadone Approved Phase 4 76-99-3 4095
26
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
27
Propafenone Approved Phase 4 54063-53-5 4932
28
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
29
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
30
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
31
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
32
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
33
Procainamide Approved Phase 4 51-06-9 4913
34
Phenylephrine Approved Phase 4 59-42-7 6041
35
Ephedrine Approved Phase 4 299-42-3 9294
36
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
37
Pseudoephedrine Approved Phase 4 90-82-4 7028
38
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
39
Norepinephrine Approved Phase 4 51-41-2 439260
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
41
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
42 Tocotrienol Investigational Phase 4 6829-55-6
43 Calcium, Dietary Phase 4
44 Analgesics Phase 4
45 Antimitotic Agents Phase 4
46 Tubulin Modulators Phase 4
47 Norgestimate, ethinyl estradiol drug combination Phase 4
48 Hormones Phase 4
49 Gastrointestinal Agents Phase 4
50 Proton Pump Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 518)
# Name Status NCT ID Phase Drugs
1 The Effect of Carbetocin Dose on Dispersion of Myocardial Repolarization in Healthy Parturients Scheduled for Elective Cesarean Delivery Under Spinal Anesthesia Unknown status NCT03716076 Phase 4 Carbetocin
2 Impact of Colchicine Therapy on Arrhythmia Recurrence After Acute Pericardial Effusion Following Catheter Ablation of Atrial Fibrillation Unknown status NCT02260206 Phase 4 Colchicine
3 Effect of Supplemental Intake of Omega-3 Polyunsaturated Fatty Acids on the Rate and Complexity of Spontaneously Occurring Ventricular and Supraventricular Arrhythmias in Patients With Implantable Cardioverter Defibrillator (ICD) - A Randomized Clinical Trial Unknown status NCT00290056 Phase 4 Eicosapentanoic acid (EPA) and Docosahexanoic acid (DHA).
4 "Test-No Test" Implantable Cardioverter Defibrillator Pilot Study (TNT-ICD) Unknown status NCT01905007 Phase 4
5 Genetics of QT Response to Moxifloxacin Unknown status NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
6 Comparative Study of the Antiarrhythmic and Cardioprotective Effects of Atorvastatin Versus Magnesium Sulfate in Cardiac Valve Replacement Surgery Unknown status NCT03289429 Phase 4 Atorvastatin;Magnesium Sulfate
7 The Early Diagnosis and Prevention of Ischemic Stroke and Cognition Decline Associated With Coronary Artery Disease Combined With Cerebral Artery Stenosis or Arrhythmia by 24-Hour Simultaneous Recorder of Electrocardiograph and Electroencephalography Unknown status NCT00247533 Phase 4
8 Safety and Feasibility of Arrhythmia Ablation Using the Amigo Remote Robotic System as Compared With Manual Ablation Unknown status NCT01834872 Phase 4
9 The Adjuvant Magnesium Trial (AdMag): Assessment if the Impact of Oral Magnesium on ICD Firing and Quality of Life Unknown status NCT00282620 Phase 4 Magnesium L-lactate
10 The Effect of Empagliflozin Versus Placebo on the Rate of Arrhythmic Events in Heart Failure Patients Unknown status NCT03271879 Phase 4 Empagliflozin at a dose of 10 mg/day
11 Evaluation of Cardiac Arrhythmias in Patients Undergoing Kidney Cancer Surgery Depending on the Anaesthesia Method Completed NCT02988219 Phase 4 Bupivacaine-fentanyl
12 Sleep Apnea-hypopnea Syndrome and Ventricular Arrhythmias in Patients With Systolic Ventricular Dysfunction and Implantable Cardioverter-defibrillator. Incidence and Effect of CPAP Treatment Completed NCT00765713 Phase 4
13 Assessing the Safety of a Continuous Potassium Chloride Infusion in Critical Care: A Randomised Controlled Trial Completed NCT00718068 Phase 4 Sterile Potassium Chloride Concentrate;Sterile Potassium Chloride Concentrate
14 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide
15 Atorvastatin for Prevention of Atrial Fibrillation Recurrence Following Pulmonary Veins Isolation: A Double-Blind, Placebo-Controlled, Randomized Pilot Trial Completed NCT00579098 Phase 4 Atorvastatin;Placebo
16 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement Completed NCT00711360 Phase 4
17 Hemodynamic and Electrocardiographic Effects of Hyaluronidase Associated With Local Anaesthetics: a Double-blind "Split-mouth" Controlled Trial. Completed NCT01719978 Phase 4 3.6mL 2% Mepivacaine with 1:100,000 epinephrine;Hyaluronidase;Placebo
18 Study on the Role of a Combination of Nutraceuticals (Ritmonutra) With an Effect on Benign Supraventricular and Ventricular Arrhythmias in Subjects Free of a Specific Organic Heart Disease. Completed NCT01647984 Phase 4
19 Prevention of Arrhythmia Device Infection Trial (PADIT) Cluster Crossover Pilot Study Completed NCT01613092 Phase 4 Incremental;Cefazolin
20 Prevention of Arrhythmia Device Infection Trial (PADIT) Cluster Crossover Study Completed NCT01628666 Phase 4 Incremental;Conventional
21 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement in Japan Completed NCT01221649 Phase 4
22 Reveal® XT Performance Trial Completed NCT00680927 Phase 4
23 Atropine for Prevention of Dysrhythmias Caused by Percutaneous Ethanol Instillation for Hepatoma Therapy Completed NCT00575523 Phase 4 Atropine;Placebo
24 Identification for the Treatment of Complex Arrhythmias (CartoFinder™ Algorithm Trial: "CF163 EU") Completed NCT02565069 Phase 4
25 Cholesterol Lowering and Arrhythmia Recurrences After Internal Defibrillator Implantation (CLARIDI) Completed NCT00457340 Phase 4 Atorvastatin 80mg
26 Reduce Ventricular Pacing in Dual Chamber Implantable Cardioverter Defibrillators Using AutoIntrinsic Conduction Search (REDUCE Study) Completed NCT00187239 Phase 4
27 Study of Concentrations of Amiodarone in Fat Tissue Obtained by Needle Aspiration in Patients on Chronic Treatment Completed NCT00313443 Phase 4
28 ENDOTAK RELIANCE G Evaluation of Handling and Electrical Performance Study Completed NCT00146822 Phase 4
29 Antiarrhythmic Effects of Spironolactone in Patients With ICDs Completed NCT04495712 Phase 4 spironolactone;placebo
30 Clinical Outcomes and Long Term Effects of Sodium-glucose Co-transporter 2 Inhibitors in Diabetes Mellitus and Failing Heart Patients With Implantable Cardioverter Defibrillator Undergoing Trans-catheter Ablation for Ventricular Arrhythmias. Completed NCT03977116 Phase 4 SLGT2;Placebo
31 Screening for Sleep-disordered Breathing in Routine Cardiology Practice: Validation of the Apnea + Hypopnea Detection by an Implantable Cardioverter Defibrillator (ICD) or Cardiac Resynchronization Therapy-defibrillator (CRT-D) With Impedance-based Respiration Sensor (ApneaScanTM) Completed NCT02045173 Phase 4
32 The Effect of Proton Pump Inhibition on Palpitations With no Apparent Cause. A Double Blinded Randomized Placebo Controlled Trial Completed NCT03273634 Phase 4 Lansoprazole Pill;Placebo
33 Feasibility and Safety of Intravenous Sotalol Administered as a Loading Dose to Initiate Oral Sotalol Therapy in Adult Patients With Atrial Fibrillation (DASH-AF) Recruiting NCT04473807 Phase 4 Intravenous Sotalol Administered as a Loading Dose to Initiate Oral Sotalol Therapy in Adult Patients with Atrial Fibrillation
34 Detection of Silent Atrial Fibrillation aFter Ischemic StrOke (SAFFO) Guided by Implantable Loop Recorder. Multicentre Italian Trial Based on Stroke Unit Network With Paired Cardio-Arrhythmology Units (Italian Neurocardiology Unit Network) Recruiting NCT02684825 Phase 4
35 Arrhythmia Prevention in High Risk Cardiovascular Patients Using Targeted Potassium Levels Recruiting NCT03833089 Phase 4
36 Effect of EMPAgliflozin on The HeterogeneitY of Ventricular Repolarization in Patients With Diabetes and Coronary HEART Disease. Recruiting NCT04117763 Phase 4 Empagliflozin 25 MG
37 Isolation of Pulmonary Veins With PVAC GOLD in Elderly Patients Recruiting NCT04023461 Phase 4
38 PROSPECTIVE ANALYSIS BETWEEN AMIODARONE Versus LIDOCAINE IN PATIENTS WITH STABLE VENTRICULAR TACHYCARDIA IN THE EMERGENCY ROOM Recruiting NCT03299517 Phase 4 Antiarrythmic Drugs;Antiarrhythmic drugs
39 Prospective Randomized Study of Efficacy and Safety of 1c Class Antiarrhythmic Agent (Propafenone) in Septic Shock Recruiting NCT03029169 Phase 4 Propafenone i.v.;Amiodarone i.v.
40 A Multicenter, Interventional, Open-label and Single-arm Study to Investigate the Effect of ARNI on Ventricular Arrhythmia in HFrEF Patients With ICD or CRT-D Recruiting NCT04491136 Phase 4 ACEI/ARB;ARNI
41 The Study of Potential Normalization of Cardiac Rhythm Following Drug Exchange From Chimeric Methadone to Active Methadone Active, not recruiting NCT04254731 Phase 4 Same individuals treated with racemic methadone and switched to levomethadone (R-methadone)
42 Multicenter Study for the Prevention of Post-Operative Cardiac Arrhythmias Not yet recruiting NCT04234906 Phase 4 Dexmedetomidine;Magnesium Sulfate;Amiodarone;Procainamide
43 Multicenter Clinical Study of Therapeutic Effect of Sotalol on Children With Arrhythmia (Paroxysmal Supraventricular Tachycardia, Paroxysmal Atrial Tachycardia, Ventricular Tachycardia, Idiopathic Ventricular Tachycardia, Premature Ventricular Contraction ) in Children Aged From 0d to 14 Yrs Not yet recruiting NCT03895411 Phase 4 sotalol;Propafenone;betaloc
44 Catheter Ablation of Arrhythmias to Improve CRT Response Terminated NCT03035227 Phase 4 Anti-Arrhythmics
45 A Randomized Controlled Pilot Trial of Phenylephrine Versus Norepinephrine for Septic Shock in Critically Ill Patients Terminated NCT02203630 Phase 4 Phenylephrine;Norepinephrine
46 Antiarrhythmic Therapy Versus Catheter Ablation as First Line Treatment for AICD Shock Prevention: A Randomized Vanguard Pilot Trial Terminated NCT02114528 Phase 4 Antiarrhythmic Drug Therapy
47 The Effect of Omega-3 Polyunsaturated Fatty Acid Supplements on Microvolt T Wave Alternans in Patients With Ventricular Arrhythmia Withdrawn NCT00507390 Phase 4
48 Remote Interrogation of Implantable Cardiac Devices in Rural Emergency Departments Withdrawn NCT02421549 Phase 4
49 Determination and Comparison of Short-term Effectiveness of Three Methods Used for Recognition of Arrhythmias in People With Different Degrees of Medical Training (Advanced Life Support Workshop Participants-ALS): Randomized Controlled Educational Experiment. Unknown status NCT02664779 Phase 3
50 Irbesartan for the Prevention of Atrial Arrhythmias and Cardiac Electrical Remodeling in Patients With Hypertension, Permanent Pacemakers and Risk Factors for Developing Atrial Fibrillation Unknown status NCT00225667 Phase 3 Irbesartan

Search NIH Clinical Center for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy

Cochrane evidence based reviews: arrhythmias, cardiac

Genetic Tests for Cardiac Conduction Disease with or Without Dilated...

Genetic tests related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 29 TNNI3K

Anatomical Context for Cardiac Conduction Disease with or Without Dilated...

MalaCards organs/tissues related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

40
Heart, Skin, Eye

Publications for Cardiac Conduction Disease with or Without Dilated...

Articles related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys). 57 6
30010057 2019
2
Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease. 6 57
29355681 2018
3
Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. 6 57
25791106 2015
4
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. 6 57
24925317 2014
5
OryzaGenome2.1: Database of Diverse Genotypes in Wild Oryza Species. 61
33661371 2021
6
A route to de novo domestication of wild allotetraploid rice. 61
33539781 2021
7
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders. 61
33267903 2020
8
Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder. 61
32587205 2020
9
Preliminary evaluation of the VIsion PERformance (VIPER) simulator. 61
31941553 2020
10
Roles of Collagen XXV and Its Putative Receptors PTPσ/δ in Intramuscular Motor Innervation and Congenital Cranial Dysinnervation Disorder. 61
31875546 2019
11
A new deep learning model for assisted diagnosis on electrocardiogram. 61
31137223 2019
12
Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly. 61
31114123 2019
13
The instruments used by the Italian centres for cognitive disorders and dementia to diagnose mild cognitive impairment (MCI). 61
30178442 2019
14
Protocadherin-Mediated Cell Repulsion Controls the Central Topography and Efferent Projections of the Abducens Nucleus. 61
30089266 2018
15
Use of neuropsychological tests for the diagnosis of dementia: a survey of Italian memory clinics. 61
29599390 2018
16
Newly Identified Wild Rice Accessions Conferring High Salt Tolerance Might Use a Tissue Tolerance Mechanism in Leaf. 61
29740456 2018
17
Ophthalmoplegia and Congenital Cranial Dysinnervation Disorders. 61
30196776 2018
18
Congenital cranial dysinnervation disorders. 61
27837354 2017
19
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. 61
29016863 2017
20
Premature ventricular contraction detection combining deep neural networks and rules inference. 61
28662816 2017
21
Chromosomal distribution patterns of the (AC)10 microsatellite and other repetitive sequences, and their use in chromosome rearrangement analysis of species of the genus Avena. 61
28156137 2017
22
Congenital Cranial Dysinnervation Disorders: A Literature Review. 61
28904220 2017
23
Hybrid weakness in a rice interspecific hybrid is nitrogen-dependent, and accompanied by changes in gene expression at both total transcript level and parental allele partitioning. 61
28248994 2017
24
Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1. 61
27663630 2016
25
Complete chloroplast genomes of Aegilops tauschii Coss. and Ae. cylindrica Host sheds light on plasmon D evolution. 61
26923563 2016
26
The Electronic Patient Reported Outcome Tool: Testing Usability and Feasibility of a Mobile App and Portal to Support Care for Patients With Complex Chronic Disease and Disability in Primary Care Settings. 61
27256035 2016
27
Improving Patient Experience and Primary Care Quality for Patients With Complex Chronic Disease Using the Electronic Patient-Reported Outcomes Tool: Adopting Qualitative Methods Into a User-Centered Design Approach. 61
26892952 2016
28
Considerations on the etiology of congenital Brown syndrome. 61
26163776 2015
29
The congenital cranial dysinnervation disorders. 61
25633065 2015
30
[Congenital cranial dysinnervation disorders (CCDD)]. 61
25803556 2015
31
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 61
25500261 2015
32
CCDD Phenotype Associated with a Small Chromosome 2 Deletion. 61
24475916 2015
33
Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction. 61
25581513 2015
34
Tying eHealth Tools to Patient Needs: Exploring the Use of eHealth for Community-Dwelling Patients With Complex Chronic Disease and Disability. 61
25428028 2014
35
Independent allopolyploidization events preceded speciation in the temperate and tropical woody bamboos. 61
25103958 2014
36
Molecular analysis of Oryza latifolia Desv. (CCDD genome)-derived introgression lines and identification of value-added traits for rice (O. sativa L.) improvement. 61
24939891 2014
37
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. 61
25173900 2014
38
Rice MtN3/saliva/SWEET gene family: Evolution, expression profiling, and sugar transport. 61
24456138 2014
39
Ocular manifestations of 22q11.2 microduplication. 61
23972321 2014
40
Genetic effect of the Aegilops caudata plasmon on the manifestation of the Ae. cylindrica genome. 61
25832746 2014
41
Congenital cranial dysinnervation disorders: a concept in evolution. 61
23872818 2013
42
Identification of a single-stranded DNA virus associated with citrus chlorotic dwarf disease, a new member in the family Geminiviridae. 61
22749878 2012
43
Role of acute diverticulitis in the development of complicated colonic diverticular disease and 1-year mortality after diagnosis in the UK: population-based cohort study. 61
21551188 2012
44
New Diversity Arrays Technology (DArT) markers for tetraploid oat (Avena magna Murphy et Terrell) provide the first complete oat linkage map and markers linked to domestication genes from hexaploid A. sativa L. 61
21805339 2011
45
Polymorphic minisatellites in the mitochondrial DNAs of Oryza and Brassica. 61
21562713 2011
46
Improving the evidence base for decision making during a pandemic: the example of 2009 influenza A/H1N1. 61
21612363 2011
47
Recent progress in understanding congenital cranial dysinnervation disorders. 61
21317732 2011
48
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. 61
22606474 2011
49
Absence of the trochlear nerve in patients with superior oblique hypoplasia. 61
20570358 2010
50
Expression of CENH3 alleles in synthesized allopolyploid Oryza species. 61
21035096 2010

Variations for Cardiac Conduction Disease with or Without Dilated...

ClinVar genetic disease variations for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FPGT-TNNI3K , TNNI3K NM_015978.3(TNNI3K):c.1577G>A (p.Gly526Asp) SNV Pathogenic 161447 rs606231469 GRCh37: 1:74835179-74835179
GRCh38: 1:74369495-74369495
2 FPGT-TNNI3K , TNNI3K NM_015978.3(TNNI3K):c.1615A>G (p.Thr539Ala) SNV Pathogenic 590304 GRCh37: 1:74835217-74835217
GRCh38: 1:74369533-74369533
3 FPGT-TNNI3K , TNNI3K NM_015978.3(TNNI3K):c.333+2T>C SNV Pathogenic 590305 rs762721434 GRCh37: 1:74716455-74716455
GRCh38: 1:74250771-74250771
4 FPGT-TNNI3K , TNNI3K , LRRC53 NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) SNV Likely pathogenic 626247 rs202238194 GRCh37: 1:74957901-74957901
GRCh38: 1:74492217-74492217
5 FPGT-TNNI3K , TNNI3K , LRRC53 NM_015978.3(TNNI3K):c.2205C>A (p.Asn735Lys) SNV Uncertain significance 931564 GRCh37: 1:74957804-74957804
GRCh38: 1:74492120-74492120

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

72
# Symbol AA change Variation ID SNP ID
1 TNNI3K p.Gly526Asp VAR_072650 rs606231469

Expression for Cardiac Conduction Disease with or Without Dilated...

Search GEO for disease gene expression data for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy.

Pathways for Cardiac Conduction Disease with or Without Dilated...

GO Terms for Cardiac Conduction Disease with or Without Dilated...

Biological processes related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 8.62 TNNI3K FPGT-TNNI3K

Molecular functions related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.62 TNNI3K FPGT-TNNI3K

Sources for Cardiac Conduction Disease with or Without Dilated...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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