CEMCOX1
MCID: CRD170
MIFTS: 40

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 (CEMCOX1)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

MalaCards integrated aliases for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

Name: Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 56 73 13
Cardiomyopathy, Hypertrophic 43 39
Cemcox1 56 73
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 71
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 1 12
Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy 56
Cytochrome C Oxidase Deficiency with Fatal Infantile Cardioencephalomyopathy 73

Characteristics:

OMIM:

56
Miscellaneous:
death in infancy
onset at birth
onset of cardiomyopathy may occur several months after birth
phenotypic overlap with cytochrome c oxidase deficiency

Inheritance:
autosomal recessive


HPO:

31
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080357
OMIM 56 604377
MedGen 41 C1858424
UMLS 71 C1858424

Summaries for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

OMIM : 56 Cardioencephalomyopathy due to cytochrome c oxidase deficiency is an autosomal recessive mitochondrial disorder characterized by onset of cardiomyopathy either in utero or in the first days of life. Most patients also show neurologic abnormalities, such as abnormal breathing pattern, nystagmus, and gyral abnormalities, consistent with encephalopathy. The disorder is usually fatal in early infancy (summary by Papadopoulou et al., 1999). (604377)

MalaCards based summary : Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1, also known as cardiomyopathy, hypertrophic, is related to hypertrophic cardiomyopathy and cardiomyopathy, familial hypertrophic, 1, and has symptoms including dyspnea An important gene associated with Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 is SCO2 (Synthesis Of Cytochrome C Oxidase 2). The drugs Spironolactone and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and testes, and related phenotypes are muscular hypotonia and global developmental delay

Disease Ontology : 12 A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.

UniProtKB/Swiss-Prot : 73 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1: A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency.

Related Diseases for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Diseases related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 hypertrophic cardiomyopathy 12.1
2 cardiomyopathy, familial hypertrophic, 1 12.1
3 cardiomyopathy, familial hypertrophic, 8 11.9
4 cardiomyopathy, familial hypertrophic, 17 11.8
5 cardiomyopathy, familial hypertrophic, 10 11.6
6 restrictive cardiomyopathy 11.5
7 cardiomyopathy, familial hypertrophic, 2 11.5
8 cardiomyopathy, familial hypertrophic, 3 11.5
9 cardiomyopathy, familial hypertrophic, 4 11.5
10 cardiomyopathy, familial hypertrophic, 6 11.5
11 cardiomyopathy, familial hypertrophic, 25 11.5
12 cardiomyopathy, familial hypertrophic, 11 11.5
13 cardiomyopathy, familial hypertrophic, 12 11.5
14 cardiomyopathy, familial hypertrophic, 13 11.5
15 cardiomyopathy, familial hypertrophic, 14 11.5
16 cardiomyopathy, familial hypertrophic, 15 11.5
17 cardiomyopathy, familial hypertrophic, 7 11.5
18 cardiomyopathy, familial hypertrophic, 16 11.5
19 cardiomyopathy, familial hypertrophic, 18 11.5
20 cardiomyopathy, familial hypertrophic, 20 11.5
21 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 11.4
22 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 11.4
23 combined oxidative phosphorylation deficiency 8 11.4
24 cardiomyopathy, dilated, 1kk 11.4
25 mitochondrial complex iv deficiency 11.3
26 cardiomyopathy, familial hypertrophic, 9 11.3
27 cardiomyopathy, familial hypertrophic, 21 11.3
28 cardiomyopathy, familial hypertrophic 27 11.3
29 mitochondrial disease with hypertrophic cardiomyopathy 11.3
30 mitochondrial complex v deficiency, mitochondrial type 1 11.2
31 atrial standstill 1 11.1
32 cardiac conduction defect 10.6
33 syncope 10.5
34 mitral valve insufficiency 10.4
35 dilated cardiomyopathy 10.4
36 congestive heart failure 10.3
37 progressive familial heart block, type ia 10.2
38 progressive familial heart block, type ib 10.1
39 right bundle branch block 10.1
40 subvalvular aortic stenosis 10.1
41 aneurysm 10.1
42 ventricular fibrillation, paroxysmal familial, 1 10.0
43 arrhythmogenic right ventricular cardiomyopathy 10.0
44 infective endocarditis 10.0
45 cardiac arrest 10.0
46 endocarditis 10.0
47 heart septal defect 10.0
48 atrial heart septal defect 10.0
49 neurofibromatosis, type iv, of riccardi 9.9
50 noonan syndrome 1 9.9

Graphical network of the top 20 diseases related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:



Diseases related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1

Symptoms & Phenotypes for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Human phenotypes related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 31 HP:0001252
2 global developmental delay 31 HP:0001263
3 feeding difficulties in infancy 31 HP:0008872
4 hypertrophic cardiomyopathy 31 HP:0001639
5 generalized hypotonia 31 HP:0001290
6 respiratory distress 31 HP:0002098
7 increased serum lactate 31 HP:0002151
8 lactic acidosis 31 HP:0003128
9 increased csf lactate 31 HP:0002490
10 neuronal loss in central nervous system 31 HP:0002529
11 neuronal loss in basal ganglia 31 HP:0200147
12 basal ganglia gliosis 31 HP:0006999
13 limited extraocular movements 31 HP:0007941

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
feeding difficulties

Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Respiratory:
respiratory difficulties

Neurologic Central Nervous System:
developmental delay
gliosis, necrosis, neuronal loss in basal ganglia, brainstem, and spinal cord
mri may show lesions in basal ganglia, thalamus, and white matter

Cardiovascular Heart:
hypertrophic cardiomyopathy

Metabolic Features:
lactic acidosis

Head And Neck Eyes:
limited extraocular movements

Muscle Soft Tissue:
hypotonia
muscle biopsy shows decreased cytochrome c oxidase activity

Clinical features from OMIM:

604377

UMLS symptoms related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:


dyspnea

Drugs & Therapeutics for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Drugs for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 97)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Ethanol Approved Phase 4 64-17-5 702
3
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
4 Antihypertensive Agents Phase 4
5 Anti-Arrhythmia Agents Phase 4
6 Hormones Phase 4
7 Diuretics, Potassium Sparing Phase 4
8 Neurotransmitter Agents Phase 4
9 Hormone Antagonists Phase 4
10 Mineralocorticoids Phase 4
11 Mineralocorticoid Receptor Antagonists Phase 4
12 Natriuretic Agents Phase 4
13 diuretics Phase 4
14 Adrenergic beta-1 Receptor Antagonists Phase 4
15 Adrenergic Antagonists Phase 4
16 Adrenergic beta-Antagonists Phase 4
17 Autonomic Agents Phase 4
18 Adrenergic Agents Phase 4
19 Sympatholytics Phase 4
20
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
21
Atorvastatin Approved Phase 3 134523-00-5 60823
22
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
23
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
24
Sulconazole Approved Phase 2, Phase 3 61318-90-9
25 Anticholesteremic Agents Phase 3
26 Hypolipidemic Agents Phase 3
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
28 Antimetabolites Phase 3
29 Lipid Regulating Agents Phase 3
30 Analgesics Phase 3
31 Anti-Infective Agents Phase 3
32 Antirheumatic Agents Phase 3
33 Central Nervous System Depressants Phase 3
34 Anti-Infective Agents, Local Phase 3
35 Fibrinolytic Agents Phase 3
36 Anti-Inflammatory Agents Phase 3
37 Anti-Inflammatory Agents, Non-Steroidal Phase 3
38 Platelet Aggregation Inhibitors Phase 3
39 Antipyretics Phase 3
40 Cyclooxygenase Inhibitors Phase 3
41 Analgesics, Non-Narcotic Phase 3
42
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
43
Trimetazidine Approved, Investigational Phase 2 5011-34-7
44
Losartan Approved Phase 2 114798-26-4 3961
45
Dipyridamole Approved Phase 2 58-32-2 3108
46
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
47
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
48
Ranolazine Approved, Investigational Phase 2 95635-55-5, 142387-99-3 56959
49
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
50
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198

Interventional clinical trials:

(show top 50) (show all 151)
# Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
2 Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation Completed NCT01721967 Phase 4 Ranolazine
3 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Completed NCT03249272 Phase 4 Regadenoson;Adenosine
4 Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy Not yet recruiting NCT04133532 Phase 4 Metoprolol
5 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial Not yet recruiting NCT02948998 Phase 4 Spironolactone
6 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
7 Sinus Rhythm Maintenance in Patients With Hypertrophic Cardiomyopathy and Atrial Fibrillation - Randomized Comparison of Antiarrhythmic Therapy vs. Radiofrequency Catheter Ablation (SHAARC) Completed NCT00821353 Phase 3 Antiarrhythmic drugs
8 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
9 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
10 Mobilization of Endothelial Progenitor Cells Following Alcohol Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: Randomized Controlled Trial of Aspirin Recruiting NCT02674958 Phase 3 Aspirin
11 A Randomized, Double Blind, Placebo Controlled Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Active, not recruiting NCT03470545 Phase 3 mavacamten;Placebo
12 A Long-Term Safety Extension Study of Mavacamten (MYK-461) in Adults With Hypertrophic Cardiomyopathy Who Have Completed the MAVERICK-HCM (MYK-461-006) or EXPLORER-HCM (MYK-461-005) Trials (MAVA-LTE) Enrolling by invitation NCT03723655 Phase 2, Phase 3 mavacamten
13 Study Title: A Phase 2/3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of GS-6615 on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
14 A Study on the Efficacy, Safety, and Tolerability of Perhexiline Maleate in Subjects With Hypertrophic Cardiomyopathy and Moderate-To-Severe Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
15 Candesartan Use in Hypertrophic and Non-Obstructive Cardiomyopathy Estate (The CHANCE): a Double-Blind, Placebo-Controlled, Randomized, Multicenter Study Unknown status NCT00430833 Phase 2 candesartan
16 A Phase 2b Randomised, Double Blind, Placebo-controlled Trial of Trimetazidine Therapy in Patients With Non-obstructive Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
17 A Phase 2 Open-label Pilot Study to Evaluate Efficacy, Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Completed NCT02842242 Phase 2 MYK-461
18 INHibition of the Renin Angiotensin System in Hypertrophic Cardiomyopathy and the Effect on Ventricular Hypertrophy - a Randomized Intervention Trial With Losartan. Completed NCT01447654 Phase 2 Losartan;Placebo
19 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
20 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
21 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
22 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
23 Double Blind Placebo Controlled Study of Cyclosporin A in Patients With Left Ventricular Hypertrophy Caused by Sarcomeric Gene Mutations Completed NCT00001965 Phase 2 Cyclosporine A
24 A Randomized Prospective Comparison of DDD Chamber Pacing and Percutaneous Transluminal Septal Ablation in Obstructive Hypertrophic Cardiomyopathy Associated With Severe Drug-Refractory Symptoms Completed NCT00001894 Phase 2
25 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
26 Double-Blind Placebo-Controlled Study of Pirfenidone, A Novel Anti-Fibrotic Drug in Symptomatic Patients With Hypertrophic Cardiomyopathy (HCM) Associated With Left Ventricular Diastolic Function Completed NCT00011076 Phase 2 Pirfenidone
27 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
28 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Recruiting NCT01332162 Phase 2
29 A Pilot Study Assessing the Effects of Ranolazine on Coronary Microvascular Dysfunction in Patients With Hypertrophic Cardiomyopathy Recruiting NCT03953989 Phase 2 Ranolazine PR (prolonged-release) 500 mg 1 tablet bis in die and 750 mg 1 tablet bis in die
30 The Effect of Metoprolol on Myocardial Function, Perfusion, Hemodynamics and Heart Failure Symptoms in Patients With Hypertrophic Obstructive Cardiomyopathy. Recruiting NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
31 Clinical and Genetic Determinants of Disease Progression and Response to Sacubitril/Valsartan vs Lifestyle (Physical Activity and Dietary Nitrate) in Patients With Hypertrophic Cardiomyopathy Recruiting NCT03832660 Phase 2 Sacubitril/Valsartan
32 An Open-Label Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in Study MYK-461-004 (PIONEER) Active, not recruiting NCT03496168 Phase 2 mavacamten
33 A Randomized, Double-blind, Placebo-controlled, Concentration-guided, Exploratory Study of Mavacameten in Patients With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM) and Preserved Left Ventricular Ejection Fraction Active, not recruiting NCT03442764 Phase 2 mavacamten;Placebo
34 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Active, not recruiting NCT01912534 Phase 2 Valsartan;Placebo
35 A Multi-center, Randomized, Placebo-controlled Patient and Investigator-blinded Study to Explore the Efficacy of Oral Sacubitril/Valsartan in Adult Patients With Non-obstructive Hypertrophic Cardiomyopathy (nHCM) Not yet recruiting NCT04164732 Phase 2 LCZ696;Placebo
36 A Phase 2, Multi-Center, Open-Label, Ascending Dose Study on the Efficacy, Safety and Tolerability of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure With Preserved Left Ventricular Function Terminated NCT02862600 Phase 2 Perhexiline
37 Technetium-NC100692 SCintigraphy to Detect avB3 Integrin Expression as a mARker of Fibrosis in Hypertrophic Cardiomyopathy and Acute Coronary Syndrome: the SCAR Study Terminated NCT01230918 Phase 2
38 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
39 Mechanistic Study of the Effect of Inorganic Sodium Nitrate on Cardiac and Skeletal Muscle Metabolic Efficiency in Patients With Hypertrophic Cardiomyopathy Unknown status NCT03251287 Phase 1 Sodium Nitrate;Placebo
40 Diastolic Ventricular Interaction and the Effects Of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
41 Safety, Tolerability, Preliminary Pharmacokinetics and Pharmacodynamics of Single Ascending Oral Doses of MYK-461 in Patient Volunteers With Hypertrophic Cardiomyopathy Completed NCT02329184 Phase 1 MYK-461
42 Obstructive Hypertrophic Cardiomyopathy (HCM) in Children: Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy Completed NCT00001396 Phase 1
43 Pilot Feasibility Study With N-acetylcystein (NAC) in Patients With HCM Caused by Sarcomere Proteins Mutations Completed NCT01537926 Phase 1 N-acetylcysteine;Placebo
44 A Phase 1, Double-Blind, Randomized, Placebo-Controlled, Multi-Part, Single and Multiple Ascending Dose Study of CK-3773274 in Healthy Adult Subjects Active, not recruiting NCT03767855 Phase 1 CK-3773274 - Granules in Capsule;Placebo - Granules in Capsule;CK-3773274 - Tablets
45 A Randomized Trial of Moderate Intensity Exercise Training in Patients With Hypertrophic Cardiomyopathy Unknown status NCT01165749
46 Endocardial Catheter CRyo-Ablation of Septal Hypertrophy for Hypertrophic Obstructive Cardiomyopathy Unknown status NCT01875016
47 Comparison of Data Obtained by Echocardiography and Magnetic Resonance Imaging in Hypertrophic Cardiomyopathy Unknown status NCT00315783
48 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
49 Evaluate the Efficacy of Disopyramide Therapy in Hypertrophic Obstructive Cardiomyopathy Patients; Comparison of Two Echocardiography Based Methods: Global Longitudinal Strain vs. Left Ventricle Ejection Fraction Unknown status NCT02917395
50 Exercise Training in Patients With Hypertrophic Cardiomyopathy Unknown status NCT01518114

Search NIH Clinical Center for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1

Cochrane evidence based reviews: cardiomyopathy, hypertrophic

Genetic Tests for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Anatomical Context for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

MalaCards organs/tissues related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

40
Heart, Spinal Cord, Testes, Skeletal Muscle, Endothelial, Brain, Thalamus

Publications for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Articles related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Phenotypic consequences of a novel SCO2 gene mutation. 56 6
18924171 2008
2
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. 56 6
10749987 2000
3
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 56 6
10545952 1999
4
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 6
23643385 2013
5
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6
16326995 2006
6
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 56
15210538 2004
7
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 6
14994243 2004
8
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? 6
14970747 2004
9
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. 6
12020273 2002
10
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 6
11673586 2001
11
Structured Reporting in Cross-Sectional Imaging of the Heart: Reporting Templates for CMR Imaging of Cardiomyopathies (Myocarditis, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Siderosis). 61
31597176 2020
12
[Structured Reporting in Cross-Sectional Imaging of the Heart: Reporting Templates for CMR Imaging of Cardiomyopathies (Myocarditis, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Siderosis)]. 61
31694058 2020
13
Screening for reproductive biomarkers in Bactrian camel via iTRAQ analysis of proteomes. 61
31840896 2019
14
New Molecular Mechanism Underlying Myc-Mediated Cytochrome P450 2E1 Upregulation in Apoptosis and Energy Metabolism in the Myocardium. 61
30563421 2019
15
INCA (Peru) Study: Impact of Non-Invasive Cardiac Magnetic Resonance Assessment in the Developing World. 61
30371164 2018
16
LncRNA and mRNA interaction study based on transcriptome profiles reveals potential core genes in the pathogenesis of human thoracic aortic dissection. 61
30066903 2018
17
Differentiating Athlete's Heart From Cardiomyopathies - The Left Side. 61
29891249 2018
18
High validity of cardiomyopathy diagnoses in western Sweden (1989-2009). 61
29024504 2018
19
Reductive Stress in Inflammation-Associated Diseases and the Pro-Oxidant Effect of Antioxidant Agents. 61
28981461 2017
20
Identification of the difference in the pathogenesis in heart failure arising from different etiologies using a microarray dataset. 61
29160422 2017
21
Cardiomyopathies and anaesthesia. 61
28970631 2017
22
Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series. 61
28580208 2017
23
Survival After Heart Transplantation in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. 61
27154489 2017
24
Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins. 61
27171814 2017
25
Heart blood flow simulation: a perspective review. 61
27562639 2016
26
Outcomes of Catheter Ablation of Ventricular Tachycardia in the Setting of Structural Heart Disease. 61
27234813 2016
27
The L-type Ca(2+) channel facilitates abnormal metabolic activity in the cTnI-G203S mouse model of hypertrophic cardiomyopathy. 61
27062056 2016
28
QRS fragmentation: its role in sherlocking the arrhythmogenic heart. 61
27406448 2016
29
Neuropeptide Y damages the integrity of mitochondrial structure and disrupts energy metabolism in cultured neonatal rat cardiomyocytes. 61
26188175 2015
30
Left Ventricular Outflow Tract Obstruction in Hypertrophic Cardiomyopathy Patients Without Severe Septal Hypertrophy: Implications of Mitral Valve and Papillary Muscle Abnormalities Assessed Using Cardiac Magnetic Resonance and Echocardiography. 61
26082555 2015
31
Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing. 61
26163040 2015
32
Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive. 61
26312722 2015
33
Epicardial Ablation of Ventricular Tachycardia. 61
26306131 2015
34
Development of hypertrophic cardiomyopathy in perilipin-1 null mice with adipose tissue dysfunction. 61
25416668 2015
35
Heart failure: advanced development in genetics and epigenetics. 61
25949994 2015
36
Three-dimensional phase-sensitive inversion recovery sequencing in the evaluation of left ventricular myocardial scars in ischemic and non-ischemic cardiomyopathy: comparison to three-dimensional inversion recovery sequencing. 61
25311877 2014
37
Sudden cardiac death in patients with nonischemic cardiomyopathy. 61
24568827 2014
38
T2-weighted imaging of the heart--a pictorial review. 61
23849330 2013
39
Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa. 61
23680887 2013
40
Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). 61
23683021 2013
41
Heart failure in sub-Saharan Africa. 61
23597299 2013
42
Relationship of delayed enhancement by magnetic resonance to myocardial perfusion by positron emission tomography in hypertrophic cardiomyopathy. 61
23418294 2013
43
Genetic disorder or toxoplasma myocarditis: a case report of dilated cardiomyopathy with hypertrabeculation in a young asymptomatic woman. 61
22574099 2012
44
Dominance of hypertensive heart disease in a tertiary hospital in southern Nigeria: an echocardiographic study. 61
22764633 2012
45
Imaging and modern assessment of the right ventricle. 61
21705997 2011
46
Preoperative preparation of patients with cardiomyopathies in non-cardiac surgery. 61
21879649 2011
47
Cardiac findings in congenital muscular dystrophies. 61
20679303 2010
48
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. 61
20616664 2010
49
Needles in hay: chest pain as the presenting symptom in children with serious underlying cardiac pathology. 61
20653703 2010
50
[The ICD as primary prevention. Rare indications]. 61
20505944 2010

Variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

ClinVar genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCO2 NM_152299.4(NCAPH2):c.*880G>ASNV Pathogenic 5678 rs74315510 22:50962684-50962684 22:50524255-50524255
2 SCO2 NM_152299.4(NCAPH2):c.*363G>ASNV Pathogenic 5679 rs80358232 22:50962167-50962167 22:50523738-50523738
3 SCO2 NM_152299.4(NCAPH2):c.*526G>ASNV Pathogenic 5680 rs28937598 22:50962330-50962330 22:50523901-50523901
4 SCO2 NM_152299.4(NCAPH2):c.*619C>TSNV Pathogenic 5681 rs74315511 22:50962423-50962423 22:50523994-50523994
5 SCO2 NM_152299.4(NCAPH2):c.*769G>ASNV Pathogenic 5682 rs74315512 22:50962573-50962573 22:50524144-50524144
6 SCO2 SCO2, 10-BP DUP, NT1302duplication Pathogenic 5683
7 SCO2 NM_152299.4(NCAPH2):c.*639C>TSNV Pathogenic 5684 rs28937868 22:50962443-50962443 22:50524014-50524014
8 SCO2 NM_152299.4(NCAPH2):c.*930C>TSNV Pathogenic 5685 rs121908508 22:50962734-50962734 22:50524305-50524305
9 SCO2 NM_005138.3(SCO2):c.2T>C (p.Met1Thr)SNV Pathogenic 800843 22:50962839-50962839 22:50524410-50524410
10 SCO2 NM_152299.4(NCAPH2):c.*659C>TSNV Uncertain significance 215127 rs150880212 22:50962463-50962463 22:50524034-50524034

UniProtKB/Swiss-Prot genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

73
# Symbol AA change Variation ID SNP ID
1 SCO2 p.Glu140Lys VAR_008874 rs74315511
2 SCO2 p.Ser225Phe VAR_008875 rs80358232
3 SCO2 p.Arg171Trp VAR_013238 rs28937598
4 SCO2 p.Cys133Tyr VAR_070054 rs28937868
5 SCO2 p.Gly193Ser VAR_076281 rs759452074

Expression for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Search GEO for disease gene expression data for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1.

Pathways for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

GO Terms for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Sources for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

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
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