MCID: CRT045
MIFTS: 26

Creatine Phosphokinase, Elevated Serum malady

Summaries for Creatine Phosphokinase, Elevated Serum

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46OMIM, 32MalaCards
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MalaCards: Creatine Phosphokinase, Elevated Serum is related to dementia and status asthmaticus. An important gene associated with Creatine Phosphokinase, Elevated Serum is CAV3 (caveolin 3). The compounds alpha tocopherol and thallium have been mentioned in the context of this disorder.

Description from OMIM:46 123320

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

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46OMIM, 44Novoseek
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Aliases & Descriptions:

creatine phosphokinase, elevated serum 46 44


Related Diseases for Creatine Phosphokinase, Elevated Serum

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17GeneCards, 18GeneDecks
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Diseases related to Creatine Phosphokinase, Elevated Serum via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1dementia10.0PIK3C2A
2status asthmaticus10.0PIK3C2A
3gas gangrene10.0PIK3C2A
4peritonitis10.0MB
5diabetic ketoacidosis10.0PIK3C2A
6acute pancreatitis10.0MB
7leptospirosis10.0PIK3C2A
8distal muscular dystrophy10.0CAV3, PIK3C2A
9ectopic pregnancy10.0CHKB, PIK3C2A
10limb-girdle muscular dystrophy10.0CHKB, CAV3
11malignant hyperthermia10.0PIK3C2A, MB
12pericardial effusion10.0CHKB, PIK3C2A
13compartment syndrome10.0MB, CHKB
14intermediate coronary syndrome10.0PIK3C2A, MB
15myocarditis10.0MB, CHKB
16respiratory failure10.0PIK3C2A
17sudden cardiac death multi-gene panels10.0CAV3, MB
18pneumonia10.0MB, PIK3C2A
19hypokalemia10.0MB, PIK3C2A
20vascular disease10.0PIK3C2A, MB
21primary hyperoxaluria10.0MB, PIK3C2A
22insulin resistance10.0MB, HMGCR
23muscular dystrophy10.0CHKB, PIK3C2A, CAV3
24disseminated intravascular coagulation10.0MB, PIK3C2A
25neuropathy10.0PIK3C2A, MB, CAV3
26neuromuscular disease10.0CAV3, MB, CHKB
27neuroleptic malignant syndrome10.0MB, PIK3C2A, CHKB
28venous thrombosis10.0HMGCR, MB
29dilated cardiomyopathy10.0MB, PIK3C2A, CHKB
30metabolic acidosis10.0CHKB, PIK3C2A, MB
31familial hyperlipidemia10.0PIK3C2A, HMGCR
32septic shock10.0HMGCR, PIK3C2A
33pulmonary disease, chronic obstructive10.0HMGCR, MB
34galactosemia10.0PIK3C2A, CHKB, HMGCR
35congestive heart failure10.0HMGCR, CHKB, PIK3C2A
36eosinophilia10.0HMGCR, PIK3C2A, MB
37melanoma10.0MB, CHKB, HMGCR
38duchenne muscular dystrophy10.0CAV3, MB, PIK3C2A, CHKB
39acute kidney failure10.0HMGCR, CHKB, PIK3C2A, MB
40ischemic heart disease10.0MB, PIK3C2A, CHKB, HMGCR
41polymyositis10.0HMGCR, CHKB, PIK3C2A, MB
42dermatomyositis10.0MB, PIK3C2A, CHKB, HMGCR
43myositis10.0MB, PIK3C2A, CHKB, HMGCR
44coronary artery disease10.0MB, PIK3C2A, CHKB, HMGCR
45congenital heart defect10.0MB, PIK3C2A, CHKB, HMGCR
46acute myocardial infarction10.0MB, PIK3C2A, CHKB, HMGCR
47coronary heart disease10.0MB, PIK3C2A, CHKB, HMGCR
48myocardial infarction10.0MB, PIK3C2A, CHKB, HMGCR
49ischemia10.0HMGCR, CHKB, PIK3C2A, MB
50myopathy10.0HMGCR, CHKB, PIK3C2A, MB, CAV3

Graphical network of the top 20 diseases related to Creatine Phosphokinase, Elevated Serum:



Diseases related to creatine phosphokinase, elevated serum

Clinical Features for Creatine Phosphokinase, Elevated Serum

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46OMIM
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Clinical features from OMIM:

123320

Clinical synopsis from OMIM:

123320

Drugs & Therapeutics for Creatine Phosphokinase, Elevated Serum

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Creatine Phosphokinase, Elevated Serum

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Anatomical Context for Creatine Phosphokinase, Elevated Serum

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Animal Models for Creatine Phosphokinase, Elevated Serum or affiliated genes

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Publications for Creatine Phosphokinase, Elevated Serum

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Genetic Variations for Creatine Phosphokinase, Elevated Serum

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Creatine Phosphokinase, Elevated Serum:

62
id Symbol AA change Variation ID SNP ID
1CAV3p.Val57MetVAR_010742
2CAV3p.Arg27GlnVAR_011512
3CAV3p.Pro29LeuVAR_029540

Expression for genes affiliated with Creatine Phosphokinase, Elevated Serum

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Creatine Phosphokinase, Elevated Serum

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Pathways for genes affiliated with Creatine Phosphokinase, Elevated Serum

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Compounds for genes affiliated with Creatine Phosphokinase, Elevated Serum

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44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Creatine Phosphokinase, Elevated Serum according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4410.3CHKB
2thallium449.8CHKB, PIK3C2A
3ptca449.7PIK3C2A, CHKB
4fe3+449.6MB, CHKB
5policosanol449.5HMGCR, PIK3C2A
6coq10449.5CHKB, HMGCR
7nitroglycerin44 1110.4CHKB, PIK3C2A
8clarithromycin44 1110.4HMGCR, CHKB
9propofol44 49 1111.4MB, PIK3C2A
10diltiazem44 28 1111.4CHKB, HMGCR
11amiodarone44 49 28 1112.3CHKB, HMGCR
12acetone449.3MB, HMGCR
13clopidogrel49 44 11 2412.3CHKB, HMGCR
14alpha-hydroxybutyrate449.3PIK3C2A, CHKB, MB
15dantrolene44 28 1111.3CHKB, PIK3C2A, MB
16succinylcholine44 28 1111.3MB, CHKB, PIK3C2A
17gamma-hydroxybutyrate449.2CHKB, PIK3C2A, MB
18rosuvastatin44 49 28 1112.2HMGCR, CHKB
19phosphocreatine44 2410.2CHKB, PIK3C2A, MB
20halothane44 28 1111.2CHKB, MB, PIK3C2A
21melphalan44 1110.2CHKB, MB, PIK3C2A
22prednisolone44 28 1111.2MB, CHKB, PIK3C2A
23cocaine44 1110.2MB, CHKB, PIK3C2A
24citrate449.2CHKB, MB, PIK3C2A
25glycogen44 2410.2PIK3C2A, CHKB, CAV3
26glycerol44 11 2411.1MB, PIK3C2A, CHKB
27phosphorus449.1CHKB, PIK3C2A
28ascorbic acid44 2410.1PIK3C2A, MB, CHKB
29gemfibrozil44 28 1111.0PIK3C2A, HMGCR, CHKB
30cerivastatin44 49 28 1112.0PIK3C2A, CHKB, HMGCR
31norepinephrine44 11 2411.0MB, CHKB, PIK3C2A
32pravastatin44 49 28 11 2413.0CHKB, PIK3C2A, HMGCR
33lovastatin44 49 59 28 1113.0CHKB, HMGCR, PIK3C2A
34atorvastatin44 49 28 11 2413.0HMGCR, PIK3C2A, CHKB
35fatty acid449.0PIK3C2A, CAV3, CHKB
36simvastatin44 49 59 28 11 2414.0CHKB, PIK3C2A, HMGCR
37methotrexate44 49 1110.9CHKB, PIK3C2A, HMGCR
38theophylline44 28 11 2411.9CHKB, HMGCR, MB
39n acetylcysteine448.8HMGCR, CHKB, MB
40cholesterol44 28 11 2411.5CAV3, CHKB, PIK3C2A, HMGCR
41cyclosporin a44 28 5910.5CHKB, HMGCR, PIK3C2A
42bezafibrate44 28 1110.4HMGCR, MB, PIK3C2A, CHKB
43fluvastatin44 49 28 1111.4CHKB, PIK3C2A, MB, HMGCR
44thyroxine44 249.4CHKB, PIK3C2A, MB, HMGCR
45epinephrine44 11 2410.4HMGCR, CHKB, PIK3C2A, MB
46lactate448.4HMGCR, CHKB, PIK3C2A, MB
47heparin44 28 11 2411.4PIK3C2A, CHKB, MB, HMGCR
48vegf448.3MB, HMGCR, CHKB, PIK3C2A
49arginine448.3PIK3C2A, HMGCR, MB, CHKB
50creatinine448.0CAV3, MB, PIK3C2A, HMGCR, CHKB

GO Terms for genes affiliated with Creatine Phosphokinase, Elevated Serum

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16Gene Ontology
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Cellular components related to Creatine Phosphokinase, Elevated Serum according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vesicleGO:0319829.5PIK3C2A, CAV3

Biological processes related to Creatine Phosphokinase, Elevated Serum according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytosisGO:0068979.5PIK3C2A, CAV3
2negative regulation of MAP kinase activityGO:0434078.9HMGCR, CAV3

Products for genes affiliated with Creatine Phosphokinase, Elevated Serum

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  • Antibodies
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Sources for Creatine Phosphokinase, Elevated Serum

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet