Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
CMH20
MCID: CRD147
MIFTS: 53

Cardiomyopathy, Familial Hypertrophic, 20 (CMH20)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 20

About this section

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 20:

Name: Cardiomyopathy, Familial Hypertrophic, 20 56 13 71
Cmh20 56 12 73
Familial Hypertrophic Cardiomyopathy 20 29 6
Cardiomyopathy, Hypertrophic, 20 56 29
Hypertrophic Cardiomyopathy 20 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 20 39
Cardiomyopathy, Familial Hypertrophic 20 73
Cardiomyopathy Familial Hypertrophic 20 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, familial hypertrophic, 20:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0110326
OMIM 56 613876
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
MedGen 41 C3151267
UMLS 71 C3151267
Sources

Summaries for Cardiomyopathy, Familial Hypertrophic, 20

About this section
UniProtKB/Swiss-Prot : 73 Cardiomyopathy, familial hypertrophic 20: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 20, also known as cmh20, is related to spontaneous tension pneumothorax and polycystic kidney disease 4. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 20 is NEXN (Nexilin F-Actin Binding Protein), and among its related pathways/superpathways are IL-17 Family Signaling Pathways and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Dexmedetomidine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are atrial fibrillation and left ventricular hypertrophy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that hhas material basis in heterozygous mutation in the NEXN gene on chromosome 1p31.1.

More information from OMIM: 613876 PS192600
Sources

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 spontaneous tension pneumothorax 10.4 SLC22A4 HCCS
2 polycystic kidney disease 4 10.4 ELN ALB
3 immuno-osseous dysplasia 10.4 ELN ALB
4 noma 10.3 CXCL8 ALB
5 aztreonam allergy 10.3 IL13 HCCS
6 aneruptive fever 10.2 IL13 ALB
7 carbapenem allergy 10.2 PPL IL13
8 ceftriaxone allergy 10.2 IL13 HCCS
9 cefuroxime allergy 10.1 PPL IL13 HCCS
10 cefaclor allergy 10.1 IL13 HCCS ALB
11 aspiration pneumonia 10.1 SLC22A4 IL6 ALB
12 acute transverse myelitis 10.0 IL6 CXCL8
13 pulmonary emphysema 10.0 ELN CXCL8 ALB
14 generalized atherosclerosis 10.0 IL6 ALB
15 fuchs' heterochromic uveitis 10.0 IL6 CXCL8
16 jejunoileitis 10.0 TNF ALB
17 gastrointestinal tuberculosis 9.9 TNF ALB
18 granulomatous hepatitis 9.9 TNF ALB
19 newborn respiratory distress syndrome 9.9 SLC22A4 IL6 CXCL8
20 pyuria 9.8 IL6 CXCL8 ALB
21 external pathological resorption 9.8 TNF IL6
22 inflammatory and toxic neuropathy 9.8 TNF ALB
23 capillary leak syndrome 9.8 IL6 CXCL8 ALB
24 necrotizing fasciitis 9.8 IL6 CXCL8 ALB
25 scorpion envenomation 9.8 TNF IL6
26 haemophilus influenzae 9.8 TNF CXCL8
27 bacteriuria 9.8 IL6 CXCL8 ALB
28 acute pyelonephritis 9.8 IL6 CXCL8 ALB
29 plasma cell neoplasm 9.8 IL6 CXCL8 ALB
30 castleman disease 9.8 PPL IL6 CXCL8
31 acute cholangitis 9.8 IL6 ALB
32 extrinsic allergic alveolitis 9.8 IL6 CXCL8 ALB
33 mycobacterium abscessus 9.8 TNF CXCL8
34 actinic prurigo 9.8 TNF IL13
35 mastitis 9.8 IL6 CXCL8 ALB
36 myxoid liposarcoma 9.7 IL6 HCCS CXCL8
37 toxicodendron dermatitis 9.7 TNF HCCS CXCL8
38 null-cell leukemia 9.7 TNF IL6
39 anaerobic pneumonia 9.7 TNF IL6
40 posterior urethral valves 9.7 TNF IL6
41 inguinal hernia 9.7 IL6 IL13 ELN
42 tracheitis 9.7 TNF SLC22A4 IL6
43 cardiac rupture 9.7 TNF CXCL8
44 amebiasis 9.7 TNF CXCL8 ALB
45 stachybotrys chartarum 9.7 TNF IL6
46 ascaris lumbricoides infection 9.7 IL6 IL13 CXCL8
47 radiculopathy 9.7 IL6 IL13 CXCL8
48 eosinophilic pneumonia 9.6 IL6 IL13 CXCL8
49 hydronephrosis 9.6 IL6 CXCL8 ALB
50 muckle-wells syndrome 9.6 TNF CXCL8 ALB

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 20:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 20
Sources

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 left ventricular hypertrophy 31 HP:0001712
3 cardiomyopathy 31 HP:0001638

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
left ventricular hypertrophy
atrial fibrillation (in some patients)
septal hypertrophy, asymmetric interventricular
left ventricular anterior wall hypertrophy (in some patients)

Clinical features from OMIM:

613876

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ALB HCCS IL13 IL6 NEXN SLC32A1
Sources

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Drugs for Cardiomyopathy, Familial Hypertrophic, 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4 Adrenergic alpha-Agonists Phase 4
5 Hypnotics and Sedatives Phase 4
6 Adrenergic Agents Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Anesthetics, General Phase 4
9 Adrenergic Agonists Phase 4
10 Analgesics Phase 4
11 Anesthetics, Intravenous Phase 4
12 Neurotransmitter Agents Phase 4
13 Neuromuscular Blocking Agents Phase 4
14 Anticonvulsants Phase 4
15 Bromides Phase 4
16
Capsaicin Approved Phase 1, Phase 2 404-86-4 1548943
17 Liver Extracts Phase 2
18 Dermatologic Agents Phase 1, Phase 2
19
Sevoflurane Approved, Vet_approved 28523-86-6 5206
20
Ketamine Approved, Vet_approved 6740-88-1 3821
21
Lidocaine Approved, Vet_approved 137-58-6 3676
22
Sufentanil Approved, Investigational 56030-54-7 41693
23
Ethanol Approved 64-17-5 702
24
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
25
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
26
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
27
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
28
tannic acid Approved 1401-55-4
29
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
30
Tramazoline Investigational 1082-57-1
31 adrenomedullin
32 Narcotics
33 Anesthetics, Local
34 Pharmaceutical Solutions
35 Sympathomimetics
36 Calamus
37 Analgesics, Opioid
38 Anesthetics

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Effects of Dexmedetomidine and Propofol on Pulmonary Mechanics Completed NCT02330120 Phase 4 propofol;dexmedetomidine
2 The Influence of a Functional Residual Capacity Guided Alveolar Recruitment Strategy After Open Endotracheal Suctioning on Oxygenation and Regional Ventilation Completed NCT00779090 Phase 4
3 Effects Of A Recruitment Maneuver On Plasma Levels of sRAGE, The Soluble Form of The Receptor For Advanced Glycation End Products, In Patients With Diffuse Acute Respiratory Distress Syndrome (ARDS) Completed NCT01600651 Phase 4
4 Does Goal-directed Hemodynamic Therapy Driven by Endotracheal Cardiac Output Monitoring System During Surgical Intervention Reduce Hospital Stay and Major Adverse Cardiac Events Following Cardiac Surgery? Completed NCT01535716 Phase 4
5 Does Depth of Neuromuscular Blockade (NMB) Affect Surgical Conditions and Postoperative Pain in Obese Patients Undergoing Robotic Surgery Recruiting NCT03591289 Phase 4 NMB with rocuronium bromide
6 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
7 Noninvasive Ventilation Strategies for Early Treatment of RDS in Preterm Infants: An RCT Completed NCT02259400 Phase 2, Phase 3
8 Evaluation of CPAP (Continuous Positive Airway Pressure) in the Planning of Radiation Treatments for Lung, Upper Abdomen and Left Breast Cancers Unknown status NCT02324530 Phase 2
9 Lowering Intracranial Pressure in Idiopathic Intracranial Hypertension: Assessing the Therapeutic Efficacy and Safety of an 11β-hydroxysteroid Dehydrogenase Type 1 Inhibitor (AZD4017). Phase II Study. Completed NCT02017444 Phase 2 AZD4017
10 Phase 2 Study of the Alveolar Recruitment Maneuver in Cesarean Section Completed NCT01826968 Phase 2
11 Cough and Swallow Rehabilitation Following Stroke Completed NCT01907321 Phase 1, Phase 2 Measures performed on all subjects
12 Endotracheal Tube Intracuff Pressure Change After Changing Position From Neutral to Hyperextension of Neck - Comparison of a Tapered Shaped- and Cylindrical Shaped Cuff Unknown status NCT02949856
13 Prospective, Open, Uncontrolled, Non-randomized and Monocentric Trial on the Efficacy and the Inflammatory Effects of a Lung Recruitment Manoeuvre in Mechanical Ventilated Patients With Respiratory Failure Unknown status NCT01070654
14 Inspiratory Muscle Training Combined With General Exercise Training, Compared to General Exercise Training Alone in Patients With COPD: Randomized Controlled Trial Unknown status NCT02392715
15 Evaluation of Effect of Continuous Positive Air Pressure (CPAP) on Upper Airway Dimensions, by Acoustic Pharyngometry (AP), in Severe Obstructive Sleep Apnea Syndrome (OSAS) and Primary Snore Patients Unknown status NCT01210703
16 The Effect of Combined General-epidural vs General Anaesthesia on Postoperative Intestinal Function Recovery and Infection in Neonates and Infants Undergoing Gastrointestinal Surgery: a Prospective, Randomised, Controlled Trial Unknown status NCT03056261
17 Criteria Analysis for Ventilatory Support Adjustment of Mechanical Ventilation Completed NCT02743624
18 Comparison of the Hemodynamic Safety of Two Common Alveolar Recruitment Manoeuvres With Regard to Cardiac Output in a Surgical Intensive Care Unit: a Randomized Study Completed NCT02805036
19 Airway Pressure During Nasal High Flow and CPAP in Neonates Completed NCT02632799
20 Wean Obese Study : Determination of the Optimal Spontaneous Breathing Trial for Obese Patient Completed NCT01616901
21 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499
22 Duration of Mechanical Ventilation and Mortality Among Brain-injured Patients - a Before-after Evaluation of a Quality Improvement Project Completed NCT01885507
23 Continuous Positive Airway Pressure Decreased Lung Collapse During General Anesthesia Induction in Pediatric Patients Completed NCT03461770
24 Preoperative MUCP and VLPP Failed to Predict Long Term (4-Years) Outcome in Patients Who Underwent Transobturator Mid-Urethral Slings. a Prospective Observational Descriptive Study Completed NCT00658944
25 Observational Study Evaluating the Impact of Opioid Free Anesthesia During Lung Protective Ventilation on Postoperative Oxygen Saturation. Completed NCT03660306
26 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
27 Evaluation of Lung Volume Under Nasal High Flow With a Time of Flight Camera Completed NCT04096183
28 Obstructive Sleep Apnoea and CPAP Treatment Response in Patients With Non-alcoholic Fatty Liver Disease Completed NCT02728765
29 Validation of Customer Requirements for the HC244/HC254 Completed NCT00739011
30 Low Tidal MEChanical Ventilation Against NO Ventilation During Cardiopulmonary Bypass Heart Surgery : a Randomized Controlled Trial Completed NCT03098524
31 Pulmonary Evaluation at Different Levels of PEEP: Ultrasonography Compared to Electrical Impedance Tomography (TIE) During Intraoperative Elective Surgeries Completed NCT03211936
32 Impact of Automatic Positive Airway Pressure on Treatment Compliance in Obstructive Sleep Apnea Patients Awaiting Bariatric Surgery Completed NCT02209220
33 Investigating the Effect of Nasal High Flow Oxygen Therapy on Regional Lung Function Completed NCT03821311
34 Cerebral Oxygen Saturation, Mean Systemic Filling Pressure and Haemodynamic Effects of PEP and CPAP in Lower Body Negative Pressure Completed NCT03009305
35 A Pilot Study Comparing Infant Flow SiPAP to Noninvasive NAVA Completed NCT01588080
36 Evaluation of the Additional Effect of Non Invasive Mechanical Ventilation During a Rehabilitative Program With Cycloergometer in Patients With Chronic Respiratory Insufficiency Using Nocturnal Home Ventilation Completed NCT01458314
37 Sleep-Disordered Breathing in Chronic SCI: A Randomized Controlled Trial of Treatment Impact on Cognition, Quality of Life, and Cardiovascular Disease Completed NCT02176928
38 Evaluation of Different Pre-Oxygenation Conditions in Morbid Obesity: Position and Ventilation Mode, in a Respiratory Physiology Laboratory, on Voluntary Subjects Completed NCT02121808
39 Gravity- Versus Suction-driven Large Volume Thoracentesis: a Randomized Controlled Study Completed NCT03591952
40 Comparison of Laryngeal Mask Airway Supreme and Endotracheal Tube In Patients Undergoing Gynecological Laparoscopy Surgery Completed NCT02127632
41 Comparing the Effectiveness Between Air-Q Intubating Laryngeal Airway and Ambu® AuraGainâ„¢ Laryngeal Mask for Controlled Ventilation in Paediatric Patients: A Randomized Controlled Trial. Completed NCT03130413
42 Clinical Comparison of Different Humidification Strategies During Noninvasive Ventilation With Helmet Completed NCT02875379
43 The Performance of a Capnodynamic Method Compared to Transpulmonary Thermodilution in Open Abdominal Surgery Completed NCT03444545
44 An Investigation to Test the Efficacy of a Novel CPAP Concept to Reduce the Apnea Hypopnea Index of Patients With Obstructive Sleep Apnea Completed NCT01025440
45 Randomized Placebo-controlled Cross-over Trial of the Effect of Nasal Tramazoline With Dexamethasone in Obstructive Sleep Apnoea Patients Completed NCT01601509 Nasal tramazoline with dexamethazone;Nasal placebo
46 Efficacy and Safety of a Lung Recruitment Protocol in Children With Acute Lung Injury Completed NCT00830284
47 The Comparison of Ventilator-driven Alveolar Maneuver in Laparoscopic Surgeryï¼› Tidal Volume Controlled vs Positive End Expiratory Pressure Controlled Cycling Maneuversï¼› a Randomized Controlled Study Recruiting NCT04258202
48 The Effect of Automatic Recruitment Maneuver on Peroperative Lung Mechanics and Postoperative Kidney Functions of Obese Patients Undergoing Laparoscopic Abdominal Surgery Recruiting NCT04269226
49 Maneuver for Evaluating the Potential Recruitability of the Pulmonary Parenchyme in Patients With ARDS Recruiting NCT04387669
50 Inspiratory Muscle Training in Patients With Nemaline Myopathy Recruiting NCT03728803

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 20

Sources

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 20:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 20 29 NEXN
2 Cardiomyopathy, Hypertrophic, 20 29
Sources

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 20

About this section

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 20:

40
Lung, Heart, Testes, Liver, Brain, Kidney, Breast
Sources

Publications for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Articles related to Cardiomyopathy, Familial Hypertrophic, 20:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 6 56
20970104 2010
2
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
3
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
4
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
5
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
6
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
7
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
8
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
9
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
10
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
11
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
12
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
13
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
14
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
15
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
16
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
17
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
18
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
19
Pressurized-bag irrigation versus hand-operated irrigation pumps during ureteroscopic laser lithotripsy: Comparison of infectious complications. 61
32475171 2020
20
Impact of Inhalation of Nitric Oxide and Extubation on Hemodynamics of Right Heart in Acute Phase after Left Ventricular Assist Device Implantation. 61
32465471 2020
21
Effect of moderate elevated intra-abdominal pressure on lung mechanics and histological lung injury at different positive end-expiratory pressures. 61
32294090 2020
22
Troubleshooting Hypoxemia After Placement of an Extraglottic Airway. 61
31122593 2019
23
Respiratory variations in pulse pressure and photoplethysmographic waveform amplitude during positive expiratory pressure and continuous positive airway pressure in a model of progressive hypovolemia. 61
31560715 2019
24
Assessment of lacrimal resistance using a manometric tear duct irrigation system. 61
29405794 2018
25
Mucosal injury following short-term tracheal intubation: A novel animal model and composite tracheal injury score. 61
30186955 2018
26
Impact of positive end expiratory pressure on cerebral hemodynamic in paediatric patients with post-traumatic brain swelling treated by surgical decompression. 61
29746600 2018
27
Switch to Abobotulinum toxin A may be useful in the treatment of neurogenic detrusor overactivity when intradetrusor injections of Onabotulinum toxin A failed. 61
28431196 2018
28
Impact of large volume paracentesis on respiratory parameters including transpulmonary pressure and on transpulmonary thermodilution derived hemodynamics: A prospective study. 61
29538440 2018
29
Low tidal volume mechanical ventilation against no ventilation during cardiopulmonary bypass heart surgery (MECANO): study protocol for a randomized controlled trial. 61
29197407 2017
30
Effectiveness of prophylactic non-invasive ventilation on respiratory function in the postoperative phase of pediatric cardiac surgery: a randomized controlled trial. 61
27706462 2016
31
Worsening Hypoxemia in the Face of Increasing PEEP: A Case of Large Pulmonary Embolism in the Setting of Intracardiac Shunt. 61
27377010 2016
32
Transcutaneous Electrical Nerve Stimulation for Treating Neurogenic Lower Urinary Tract Dysfunction: A Systematic Review. 61
26831506 2016
33
Effects of clamping procedures on central venous pressure during liver resection. 61
26633749 2016
34
Metabolomics screening identifies reduced L-carnitine to be associated with progressive emphysema. 61
26564208 2016
35
Infraclavicular axillary vein cannulation using ultrasound in a mechanically ventilated general intensive care population. 61
26310415 2015
36
[Measurement of the Minimum Pressure in the Bronchial Cuff during One-lung Ventilation Using a Capnometer]. 61
26442408 2015
37
Structural and functional correlations in a large animal model of bleomycin-induced pulmonary fibrosis. 61
26227819 2015
38
[Intrinsic sphincter deficiency and female urinary incontinence]. 61
25864653 2015
39
Impact of Extraperitoneal Dioxyde Carbon Insufflation on Respiratory Function in Anesthetized Adults: A Preliminary Study Using Electrical Impedance Tomography and Wash-out/Wash-in Technic. 61
25789238 2015
40
Effect of positive end-expiratory pressure on porcine right ventricle function assessed by speckle tracking echocardiography. 61
25873786 2015
41
Increased intracranial pressure in spontaneous CSF leak patients is not associated with papilledema. 61
25248848 2014
42
A Valsalva leak-point pressure of >100 cmH2O is associated with greater success in AdVance™ sling placement for the treatment of post-prostatectomy urinary incontinence. 61
24796275 2014
43
Heart-lung interactions during neurally adjusted ventilatory assist. 61
25212533 2014
44
Assessment of right liver graft perfusion effectiveness between one and two-catheter infusion methods. 61
26155247 2014
45
Tidal stretches differently regulate the contractile and cytoskeletal elements in intact airways. 61
24740101 2014
46
Current ventilation practice during general anaesthesia: a prospective audit in Melbourne, Australia. 61
25302048 2014
47
Comparison of three high flow oxygen therapy delivery devices: a clinical physiological cross-over study. 61
23857440 2013
48
Repeat mid-urethral sling for recurrent female stress urinary incontinence. 61
22976532 2013
49
Detrusor underactivity is prevalent after radical prostatectomy: A urodynamic study including risk factors. 61
22277630 2013
50
Predictive value of obstructive voiding symptoms and objective bladder emptying tests for urinary retention. 61
23075353 2012
Sources

Variations for Cardiomyopathy, Familial Hypertrophic, 20

About this section

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 20:

6 (show top 50) (show all 102) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEXN NM_144573.3(NEXN):c.391C>G (p.Gln131Glu)SNV Pathogenic 30993 rs387907079 1:78383902-78383902 1:77918217-77918217
2 NEXN NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)SNV Conflicting interpretations of pathogenicity 30994 rs146245480 1:78392548-78392548 1:77926863-77926863
3 NEXN NM_144573.3(NEXN):c.1918_1922del (p.Tyr640fs)deletion Conflicting interpretations of pathogenicity 470680 rs1222794437 1:78408401-78408405 1:77942716-77942720
4 NEXN NM_144573.3(NEXN):c.1671_1673GGA[2] (p.Glu561_Glu562del)short repeat Conflicting interpretations of pathogenicity 47893 rs397517848 1:78408155-78408160 1:77942470-77942475
5 NEXN NM_144573.4(NEXN):c.1946_1948GAG[1] (p.Gly650del)short repeat Conflicting interpretations of pathogenicity 47899 rs397517853 1:78408435-78408437 1:77942746-77942748
6 NEXN NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)SNV Conflicting interpretations of pathogenicity 326 rs137853197 1:78408441-78408441 1:77942756-77942756
7 NEXN NM_144573.4(NEXN):c.732C>A (p.Pro244=)SNV Conflicting interpretations of pathogenicity 47910 rs201171783 1:78392445-78392445 1:77926760-77926760
8 NEXN NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)SNV Conflicting interpretations of pathogenicity 47914 rs200753280 1:78395029-78395029 1:77929344-77929344
9 NEXN NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)SNV Conflicting interpretations of pathogenicity 47915 rs201763096 1:78395131-78395131 1:77929446-77929446
10 NEXN NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln)SNV Conflicting interpretations of pathogenicity 138511 rs35366555 1:78401664-78401664 1:77935979-77935979
11 NEXN NM_144573.4(NEXN):c.1252-10T>GSNV Conflicting interpretations of pathogenicity 178878 rs201019553 1:78401498-78401498 1:77935813-77935813
12 NEXN NM_144573.4(NEXN):c.249G>A (p.Glu83=)SNV Conflicting interpretations of pathogenicity 178102 rs372532824 1:78383674-78383674 1:77917989-77917989
13 NEXN NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)SNV Conflicting interpretations of pathogenicity 201917 rs372065024 1:78392121-78392121 1:77926436-77926436
14 NEXN NM_144573.3(NEXN):c.856C>T (p.Arg286Trp)SNV Conflicting interpretations of pathogenicity 201919 rs199917913 1:78392569-78392569 1:77926884-77926884
15 NEXN NM_144573.4(NEXN):c.949A>C (p.Met317Leu)SNV Conflicting interpretations of pathogenicity 178904 rs559464457 1:78395085-78395085 1:77929400-77929400
16 NEXN NM_144573.4(NEXN):c.1029G>A (p.Ala343=)SNV Conflicting interpretations of pathogenicity 178103 rs374260457 1:78395165-78395165 1:77929480-77929480
17 NEXN NM_001172309.1(NEXN):c.1479_1481GGA[3] (p.Glu498del)short repeat Conflicting interpretations of pathogenicity 201945 rs397517848 1:78408155-78408157 1:77942470-77942472
18 NEXN NM_144573.3(NEXN):c.2026_*1deldeletion Uncertain significance 201946 rs794729094 1:78408509-78408512 1:77942824-77942827
19 NEXN NM_144573.4(NEXN):c.86G>T (p.Gly29Val)SNV Uncertain significance 229061 rs876657931 1:78383309-78383309 1:77917624-77917624
20 NEXN NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)SNV Uncertain significance 179277 rs727504758 1:78407762-78407762 1:77942077-77942077
21 NEXN NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)SNV Uncertain significance 229058 rs771113424 1:78383890-78383890 1:77918205-77918205
22 NEXN NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)SNV Uncertain significance 229051 rs750076188 1:78399087-78399087 1:77933402-77933402
23 NEXN NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)SNV Uncertain significance 229054 rs539665448 1:78401671-78401671 1:77935986-77935986
24 NEXN NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)deletion Uncertain significance 229055 rs876657928 1:78408304-78408306 1:77942619-77942621
25 NEXN NM_144573.3(NEXN):c.1572_1574delAGAshort repeat Uncertain significance 194130 rs764505909 1:78407806-78407808 1:77942121-77942123
26 NEXN NM_144573.3(NEXN):c.242A>T (p.Asp81Val)SNV Uncertain significance 201915 rs367871780 1:78383667-78383667 1:77917982-77917982
27 NEXN NM_144573.3(NEXN):c.687+4A>TSNV Uncertain significance 241866 rs754061340 1:78392300-78392300 1:77926615-77926615
28 NEXN NM_144573.3(NEXN):c.392A>C (p.Gln131Pro)SNV Uncertain significance 264597 rs397517858 1:78383903-78383903 1:77918218-77918218
29 NEXN NM_144573.3(NEXN):c.1640T>C (p.Ile547Thr)SNV Uncertain significance 201944 rs753636624 1:78407874-78407874 1:77942189-77942189
30 NEXN NM_144573.3(NEXN):c.671G>A (p.Cys224Tyr)SNV Uncertain significance 298088 rs886046534 1:78392280-78392280 1:77926595-77926595
31 NEXN NM_144573.3(NEXN):c.1271C>T (p.Thr424Ile)SNV Uncertain significance 201924 rs200442502 1:78401527-78401527 1:77935842-77935842
32 NEXN NM_144573.3(NEXN):c.1416_1418AAG[1] (p.Arg475del)short repeat Uncertain significance 201940 rs794729091 1:78401672-78401674 1:77935987-77935989
33 NEXN NM_144573.3(NEXN):c.1430T>C (p.Ile477Thr)SNV Uncertain significance 201934 rs727504658 1:78401686-78401686 1:77936001-77936001
34 NEXN NM_144573.3(NEXN):c.1435C>T (p.Leu479Phe)SNV Uncertain significance 201925 rs181520023 1:78401691-78401691 1:77936006-77936006
35 NEXN NM_144573.3(NEXN):c.1471G>C (p.Glu491Gln)SNV Uncertain significance 201926 rs373057251 1:78401727-78401727 1:77936042-77936042
36 NEXN NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)SNV Uncertain significance 179003 rs369486891 1:78392195-78392195 1:77926510-77926510
37 NEXN NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)SNV Uncertain significance 47908 rs201447781 1:78392222-78392222 1:77926537-77926537
38 NEXN NM_001172309.1(NEXN):c.1561_1563AAG[1] (p.Lys522del)short repeat Uncertain significance 47896 rs397517851 1:78408239-78408241 1:77942554-77942556
39 NEXN NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)SNV Uncertain significance 47897 rs199738750 1:78408274-78408274 1:77942589-77942589
40 NEXN NM_144573.3(NEXN):c.277G>C (p.Ala93Pro)SNV Uncertain significance 470682 rs1256690084 1:78383702-78383702 1:77918017-77918017
41 NEXN NM_144573.4(NEXN):c.1053+1G>ASNV Uncertain significance 47886 rs397517843 1:78395190-78395190 1:77929505-77929505
42 NEXN NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)SNV Uncertain significance 47887 rs200067011 1:78399025-78399025 1:77933340-77933340
43 NEXN NM_144573.4(NEXN):c.1401_1403AGA[2] (p.Glu470del)short repeat Uncertain significance 47890 rs397517846 1:78401657-78401659 1:77935972-77935974
44 NEXN NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)SNV Uncertain significance 47891 rs368812830 1:78401709-78401709 1:77936024-77936024
45 NEXN NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly)SNV Uncertain significance 47892 rs397517847 1:78401713-78401713 1:77936028-77936028
46 NEXN NC_000001.11:g.(?_77933272)_(77936054_?)dupduplication Uncertain significance 831977 1:78398957-78401739
47 NEXN NM_144573.4(NEXN):c.55C>T (p.Pro19Ser)SNV Uncertain significance 835184 1:78383278-78383278 1:77917593-77917593
48 NEXN NM_144573.4(NEXN):c.848A>T (p.Glu283Val)SNV Uncertain significance 855801 1:78392561-78392561 1:77926876-77926876
49 NEXN NM_144573.4(NEXN):c.1451G>A (p.Arg484Gln)SNV Uncertain significance 838951 1:78401707-78401707 1:77936022-77936022
50 NEXN NM_144573.4(NEXN):c.1928A>C (p.Glu643Ala)SNV Uncertain significance 848721 1:78408414-78408414 1:77942729-77942729

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 20:

73
# Symbol AA change Variation ID SNP ID
1 NEXN p.Gln131Glu VAR_065477 rs387907079
2 NEXN p.Arg279Cys VAR_065478 rs146245480

Sources

Expression for Cardiomyopathy, Familial Hypertrophic, 20

About this section
Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 20.
Sources

Pathways for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Pathways related to Cardiomyopathy, Familial Hypertrophic, 20 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
IL-17 Family Signaling Pathways 64
Show member pathways
 12.13 TNF IL6 IL13 CXCL8
2
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.91 TNF IL6 IL13 CXCL8
3
Amoebiasis 36
11.76 TNF IL6 CXCL8
4
AGE-RAGE signaling pathway in diabetic complications 36
11.74 TNF IL6 CXCL8
5
Rheumatoid arthritis 36
11.7 TNF IL6 CXCL8
6
Glucocorticoid receptor regulatory network 1
11.61 IL6 IL13 CXCL8
7
Interleukin-4 and 13 signaling 65
11.61 TNF IL6 IL13 CXCL8
8
Pertussis 36
11.57 TNF IL6 CXCL8
9
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.45 TNF IL6 CXCL8
10
Legionellosis 36
11.39 TNF IL6 CXCL8
11
Malaria 36
11.31 TNF IL6 CXCL8
12
Development and heterogeneity of the ILC family 1
11.05 TNF IL6 IL13
13
Cytokines and Inflammatory Response 1
10.96 TNF IL6 IL13
14
Interleukin-10 signaling 65
10.95 TNF IL6 IL13 CXCL8
15
G-protein signaling_Rap2B regulation pathway 22
10.84 TNF IL6 IL13 ELN CXCL8
16
Lung fibrosis 1
10.82 TNF IL6 IL13 ELN CXCL8
17
IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
10.63 IL6 IL13
18
Overview of nanoparticle effects 1
10.61 TNF IL6 CXCL8
Sources

GO Terms for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.62 TNF IL6 IL13 CXCL8
2 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.37 TNF IL6
3 positive regulation of neuroinflammatory response GO:0150078 9.26 TNF IL6
4 negative regulation of lipid storage GO:0010888 9.16 TNF IL6
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.13 TNF IL6 IL13
6 positive regulation of smooth muscle cell proliferation GO:0048661 8.8 TNF IL6 IL13

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.92 TNF IL6 IL13 CXCL8
Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 20

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....