CEMCOX1
MCID: CRD170
MIFTS: 39

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 58 76 13
Cardiomyopathy, Hypertrophic 45 41
Cemcox1 58 76
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 74
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 1 12
Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy 58
Cytochrome C Oxidase Deficiency with Fatal Infantile Cardioencephalomyopathy 76

Characteristics:

OMIM:

58
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:

33
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1:
Clinical modifier death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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 (SCO Cytochrome C Oxidase Assembly Protein 2). The drugs Spironolactone and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and brain, 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 : 76 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 all 43)
# Related Disease Score Top Affiliating Genes
1 hypertrophic cardiomyopathy 12.0
2 cardiomyopathy, familial hypertrophic, 1 11.9
3 cardiomyopathy, familial hypertrophic, 8 11.5
4 cardiomyopathy, familial hypertrophic, 10 11.4
5 cardiomyopathy, familial hypertrophic, 2 11.3
6 cardiomyopathy, familial hypertrophic, 3 11.3
7 cardiomyopathy, familial hypertrophic, 4 11.3
8 cardiomyopathy, familial hypertrophic, 6 11.3
9 cardiomyopathy, familial hypertrophic, 25 11.3
10 cardiomyopathy, familial hypertrophic, 11 11.3
11 cardiomyopathy, familial hypertrophic, 12 11.3
12 cardiomyopathy, familial hypertrophic, 13 11.3
13 cardiomyopathy, familial hypertrophic, 14 11.3
14 cardiomyopathy, familial hypertrophic, 15 11.3
15 cardiomyopathy, familial hypertrophic, 7 11.3
16 cardiomyopathy, familial hypertrophic, 16 11.3
17 cardiomyopathy, familial hypertrophic, 17 11.3
18 cardiomyopathy, familial hypertrophic, 18 11.3
19 cardiomyopathy, familial hypertrophic, 20 11.3
20 combined oxidative phosphorylation deficiency 8 11.3
21 mitochondrial complex iv deficiency 11.2
22 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 11.2
23 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 11.2
24 cardiomyopathy, familial hypertrophic, 9 11.2
25 cardiomyopathy, familial hypertrophic, 21 11.2
26 cardiomyopathy, dilated, 1kk 11.2
27 cardiomyopathy, familial hypertrophic 27 11.2
28 mitochondrial complex v deficiency, mitochondrial type 1 11.1
29 restrictive cardiomyopathy 11.1
30 atrial standstill 1 10.4
31 cardiac conduction defect 10.1
32 dilated cardiomyopathy 10.1
33 platelet glycoprotein iv deficiency 9.8
34 muscle hypertrophy 9.8
35 pulmonary hypertension 9.8
36 congestive heart failure 9.8
37 ischemic heart disease 9.8
38 endocarditis 9.8
39 heart disease 9.8
40 ehlers-danlos syndrome 9.8
41 ischemia 9.8
42 hyperthyroidism 9.8
43 rere-related disorders 9.8

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 HP:0001252
2 global developmental delay 33 HP:0001263
3 feeding difficulties in infancy 33 HP:0008872
4 hypertrophic cardiomyopathy 33 HP:0001639
5 respiratory distress 33 HP:0002098
6 increased serum lactate 33 HP:0002151
7 lactic acidosis 33 HP:0003128
8 generalized hypotonia 33 HP:0001290
9 neuronal loss in central nervous system 33 HP:0002529
10 increased csf lactate 33 HP:0002490
11 neuronal loss in basal ganglia 33 HP:0200147
12 basal ganglia gliosis 33 HP:0006999
13 limited extraocular movements 33 HP:0007941

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
hypertrophic cardiomyopathy

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

Abdomen Gastrointestinal:
feeding difficulties

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 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Ranolazine Approved, Investigational Phase 4,Phase 2 95635-55-5, 142387-99-3 56959
3
Regadenoson Approved, Investigational Phase 4,Not Applicable 313348-27-5 219024
4
Adenosine Approved, Investigational Phase 4 58-61-7 60961
5
Dobutamine Approved Phase 4,Not Applicable 34368-04-2 36811
6
Amlodipine Approved Phase 4,Not Applicable 88150-42-9 2162
7
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
8
Indapamide Approved Phase 4 26807-65-8 3702
9 Mineralocorticoids Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Natriuretic Agents Phase 4
12 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
13 Hormone Antagonists Phase 4
14 Diuretics, Potassium Sparing Phase 4,Phase 2,Not Applicable
15 Mineralocorticoid Receptor Antagonists Phase 4
16 diuretics Phase 4
17 carnitine Phase 4,Phase 2
18 Sodium Channel Blockers Phase 4,Phase 2,Not Applicable
19 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Not Applicable
20 Vasodilator Agents Phase 4,Phase 3,Phase 2,Not Applicable
21 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Analgesics Phase 4,Phase 3,Phase 2
24 Cardiotonic Agents Phase 4,Not Applicable
25 Adrenergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
26 Adrenergic beta-Agonists Phase 4,Not Applicable
27 Autonomic Agents Phase 4,Phase 3,Phase 2,Not Applicable
28 Adrenergic Agonists Phase 4,Not Applicable
29 Protective Agents Phase 4,Phase 1,Not Applicable
30 Sympathomimetics Phase 4,Not Applicable
31 Sodium Chloride Symporter Inhibitors Phase 4
32 Telmisartan amlodipine combination Phase 4
33
Angiotensin II Approved, Investigational Phase 2, Phase 3,Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198
34
Valsartan Approved, Investigational Phase 2, Phase 3 137862-53-4 60846
35
Perhexiline Approved, Investigational Phase 3,Phase 2 6621-47-2 4746
36
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
37
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
38
Atorvastatin Approved Phase 3 134523-00-5 60823
39
Losartan Approved Phase 3,Phase 2 114798-26-4 3961
40
Atenolol Approved Phase 3 29122-68-7 2249
41
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
42
Ethanol Approved Phase 3,Phase 2 64-17-5 702
43
Calcium Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 7440-70-2 271
44
Maleic acid Experimental, Investigational Phase 3 110-17-8, 110-16-7 444972
45 Angiotensin Receptor Antagonists Phase 2, Phase 3,Phase 3
46 Antihypertensive Agents Phase 2, Phase 3,Phase 3,Not Applicable
47 Giapreza Phase 2, Phase 3,Phase 3
48 Angiotensin II Type 1 Receptor Blockers Phase 2, Phase 3,Phase 3
49 Angiotensinogen Phase 2, Phase 3,Phase 3
50 LCZ 696 Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 170)
# Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
2 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
3 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
4 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
5 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
6 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4 Dobutamine
7 Treating Nocturnal Hypertension and Nocturia in African American Men Active, not recruiting NCT03319823 Phase 4 Thiazide Treatment Group;Intensified Thiazide Treatment Group;Combination Medication Treatment Group
8 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
9 Lifestyle and Pharmacological Interventions in Hypertrophic Cardiomyopathy Not yet recruiting NCT03832660 Phase 2, Phase 3 Sacubitril/Valsartan
10 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
11 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
12 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
13 Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy Completed NCT00821353 Phase 3 Antiarrhythmic drugs
14 Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Recruiting NCT03470545 Phase 3 mavacamten;Placebo
15 A Long-Term Safety Extension Study of Mavacamten in Adults Who Have Completed MAVERICK-HCM or EXPLORER-HCM Enrolling by invitation NCT03723655 Phase 2, Phase 3 mavacamten
16 Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart Completed NCT00317967 Phase 3 Atorvastatin;Placebo
17 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
18 Mobilization of Endothelial Progenitor Cells and Aspirin Recruiting NCT02674958 Phase 3 Aspirin
19 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
20 CHANCE - Candesartan in Hypertrophic Cardiomyopathy Unknown status NCT00430833 Phase 2 candesartan
21 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Terminated NCT02862600 Phase 2 Perhexiline
22 Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy Completed NCT00500552 Phase 2 Perhexiline/Placebo
23 Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy Completed NCT01447654 Phase 2 Losartan;Placebo
24 Pirfenidone to Treat Hypertrophic Cardiomyopathy Completed NCT00011076 Phase 2 Pirfenidone
25 Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study Completed NCT00035386 Phase 2
26 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
27 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
28 Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER Active, not recruiting NCT03496168 Phase 2 mavacamten
29 A Phase 2 Open-label Pilot Study Evaluating MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Completed NCT02842242 Phase 2 MYK-461
30 A Phase 2 Study of Mavacamten in Adults With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM) Active, not recruiting NCT03442764 Phase 2 mavacamten;Placebo
31 Cyclosporine A to Treat Hypertrophic Cardiomyopathy (HCM) Completed NCT00001965 Phase 2 Cyclosporine A
32 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
33 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
34 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
35 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
36 CArdiac Desynchronization In Obstructive HCM, CARDIO-HCM Recruiting NCT01332162 Phase 2
37 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
38 The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy. Recruiting NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
39 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Active, not recruiting NCT01912534 Phase 2 Valsartan;Placebo
40 Study of Blood Flow in Heart Muscle Completed NCT00001631 Phase 2
41 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
42 Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
43 Nitrite in Hypertrophic Cardiomyopathy (HCM) Study Recruiting NCT03251287 Phase 1 Sodium Nitrate;Placebo
44 Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy of Children With Obstructive Hypertrophic Cardiomyop... Completed NCT00001396 Phase 1
45 Study Evaluating the Safety, Tolerability and Preliminary Pharmacokinetics and Pharmacodynamics of MYK-461 Completed NCT02329184 Phase 1 MYK-461
46 Hypertrophic Regression With N-Acetylcysteine in HCM Completed NCT01537926 Phase 1 N-acetylcysteine;Placebo
47 A Single and Multiple Ascending Dose Study of CK-3773274 in Healthy Adult Subjects Recruiting NCT03767855 Phase 1 CK-3773274;Placebo
48 Single Ascending Dose Study of MYK-461 in Healthy Volunteers Completed NCT02356289 Phase 1 Placebo;MYK-461
49 Gene Therapy for Male Patients With Danon Disease Using RP-A501; AAV9.LAMP2B Recruiting NCT03882437 Phase 1
50 Metabolic Imaging of the Heart Using Hyperpolarized (13C) Pyruvate Injection Recruiting NCT02648009 Phase 1 Hyperpolarized (13) Pyruvate Injection

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:

42
Heart, Spinal Cord, Brain, Testes, Breast, Endothelial, Skeletal Muscle

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

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

(show all 20)
# Title Authors Year
1
Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive. ( 26312722 )
2015
2
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. ( 23643385 )
2013
3
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. ( 21488307 )
2010
4
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. ( 21488306 )
2010
5
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. ( 21488259 )
2010
6
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. ( 21488308 )
2010
7
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. ( 19694057 )
2009
8
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. ( 19694058 )
2009
9
Phenotypic consequences of a novel SCO2 gene mutation. ( 18924171 )
2008
10
Gene symbol: MYBPC3. Disease: Cardiomyopathy, hypertrophic. ( 18846659 )
2008
11
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. ( 16326995 )
2006
12
Gene symbol: MYH7. Disease: cardiomyopathy, hypertrophic. ( 16521248 )
2005
13
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. ( 14994243 )
2004
14
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? ( 14970747 )
2004
15
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. ( 12020273 )
2002
16
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. ( 11673586 )
2001
17
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. ( 10749987 )
2000
18
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. ( 10545952 )
1999
19
Outcome of congestive heart failure, dilated cardiomyopathy, hypertrophic hyperkinetic disease, and ischemic heart disease in dialysis patients. ( 2143353 )
1990
20
Echocardiography, electrocardiography, and radiography of cats with dilatation cardiomyopathy, hypertrophic cardiomyopathy, and hyperthyroidism. ( 2943198 )
1986

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

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

76
# 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

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

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCO2 NM_001169109.1(SCO2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs74315510 GRCh37 Chromosome 22, 50962684: 50962684
2 SCO2 NM_001169109.1(SCO2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs74315510 GRCh38 Chromosome 22, 50524255: 50524255
3 SCO2 NM_001169109.1(SCO2): c.674C> T (p.Ser225Phe) single nucleotide variant Pathogenic rs80358232 GRCh37 Chromosome 22, 50962167: 50962167
4 SCO2 NM_001169109.1(SCO2): c.674C> T (p.Ser225Phe) single nucleotide variant Pathogenic rs80358232 GRCh38 Chromosome 22, 50523738: 50523738
5 SCO2 NM_001169109.1(SCO2): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs28937598 GRCh37 Chromosome 22, 50962330: 50962330
6 SCO2 NM_001169109.1(SCO2): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs28937598 GRCh38 Chromosome 22, 50523901: 50523901
7 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh37 Chromosome 22, 50962423: 50962423
8 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh38 Chromosome 22, 50523994: 50523994
9 SCO2 NM_001169109.1(SCO2): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315512 GRCh37 Chromosome 22, 50962573: 50962573
10 SCO2 NM_001169109.1(SCO2): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315512 GRCh38 Chromosome 22, 50524144: 50524144
11 SCO2 SCO2, 10-BP DUP, NT1302 duplication Pathogenic
12 SCO2 NM_001169109.1(SCO2): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs28937868 GRCh37 Chromosome 22, 50962443: 50962443
13 SCO2 NM_001169109.1(SCO2): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs28937868 GRCh38 Chromosome 22, 50524014: 50524014
14 SCO2 NM_001169109.1(SCO2): c.107G> A (p.Trp36Ter) single nucleotide variant Pathogenic rs121908508 GRCh37 Chromosome 22, 50962734: 50962734
15 SCO2 NM_001169109.1(SCO2): c.107G> A (p.Trp36Ter) single nucleotide variant Pathogenic rs121908508 GRCh38 Chromosome 22, 50524305: 50524305
16 SCO2 NM_005138.2(SCO2): c.378G> A (p.Met126Ile) single nucleotide variant Uncertain significance rs150880212 GRCh37 Chromosome 22, 50962463: 50962463
17 SCO2 NM_005138.2(SCO2): c.378G> A (p.Met126Ile) single nucleotide variant Uncertain significance rs150880212 GRCh38 Chromosome 22, 50524034: 50524034

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...

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