MCID: CRT045
MIFTS: 19

Creatine Phosphokinase, Elevated Serum malady

Summaries for Creatine Phosphokinase, Elevated Serum

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47OMIM, 33MalaCards
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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:47 123320

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

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47OMIM, 45Novoseek
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Aliases & Descriptions:

creatine phosphokinase, elevated serum 47 45


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 disease,10.0MB, 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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47OMIM
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Clinical features from OMIM:

123320

Clinical synopsis from OMIM:

123320

Drugs & Therapeutics for Creatine Phosphokinase, Elevated Serum

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Creatine Phosphokinase, Elevated Serum

Animal Models for Creatine Phosphokinase, Elevated Serum or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Creatine Phosphokinase, Elevated Serum

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51PubMed
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Articles related to Creatine Phosphokinase, Elevated Serum:

idTitleAuthorsYear
1
Elevated serum creatine phosphokinase in choline-deficient humans: mechanistic studies in C2C12 mouse myoblasts. (15213044)
2004
2
Muscle cramps and elevated serum creatine phosphokinase levels induced by beta-adrenoceptor blockers. (7621844)
1995
3
Significance of elevated levels of serum creatine phosphokinase in febrile diseases: a prospective study. (2041954)
1991
4
Elevated serum creatine phosphokinase in subjects with McLeod syndrome. (7197431)
1981

Genetic Variations for Creatine Phosphokinase, Elevated Serum

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Creatine Phosphokinase, Elevated Serum:

63
id Symbol AA change Variation SNP ID
1CAV3p.Val57MetVAR_010742
2CAV3p.Arg27GlnVAR_011512
3CAV3p.Pro29LeuVAR_029540

Expression for genes affiliated with Creatine Phosphokinase, Elevated Serum

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

Search GEO for disease gene expression data for Creatine Phosphokinase, Elevated Serum.

Pathways for genes affiliated with Creatine Phosphokinase, Elevated Serum

Compounds for genes affiliated with Creatine Phosphokinase, Elevated Serum

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris 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 tocopherol4510.3CHKB
2thallium459.8CHKB, PIK3C2A
3ptca459.7CHKB, PIK3C2A
4fe3+459.6CHKB, MB
5policosanol459.5HMGCR, PIK3C2A
6coq10459.5HMGCR, CHKB
7nitroglycerin45 1110.4PIK3C2A, CHKB
8clarithromycin45 1110.4HMGCR, CHKB
9propofol45 50 1111.4PIK3C2A, MB
10diltiazem45 29 1111.4HMGCR, CHKB
11amiodarone45 50 29 1112.3HMGCR, CHKB
12acetone459.3MB, HMGCR
13rosuvastatin45 50 29 1112.3HMGCR, CHKB
14alpha-hydroxybutyrate459.3CHKB, PIK3C2A, MB
15dantrolene45 29 1111.3CHKB, PIK3C2A, MB
16succinylcholine45 29 1111.3CHKB, PIK3C2A, MB
17gamma-hydroxybutyrate459.2MB, PIK3C2A, CHKB
18clopidogrel50 45 11 2412.2HMGCR, CHKB
19phosphocreatine45 2410.2CHKB, PIK3C2A, MB
20halothane45 29 1111.2CHKB, PIK3C2A, MB
21melphalan45 1110.2MB, PIK3C2A, CHKB
22prednisolone45 29 1111.2CHKB, PIK3C2A, MB
23cocaine45 1110.2CHKB, PIK3C2A, MB
24citrate459.2CHKB, PIK3C2A, MB
25glycogen45 2410.2CAV3, PIK3C2A, CHKB
26glycerol45 11 2411.1MB, PIK3C2A, CHKB
27phosphorus459.1CHKB, PIK3C2A
28ascorbic acid45 2410.1MB, PIK3C2A, CHKB
29gemfibrozil45 29 1111.0PIK3C2A, CHKB, HMGCR
30cerivastatin45 50 29 1112.0HMGCR, CHKB, PIK3C2A
31norepinephrine45 11 2411.0CHKB, PIK3C2A, MB
32pravastatin45 50 29 11 2413.0HMGCR, CHKB, PIK3C2A
33lovastatin45 50 60 29 1113.0HMGCR, CHKB, PIK3C2A
34atorvastatin45 50 29 11 2413.0PIK3C2A, CHKB, HMGCR
35fatty acid459.0CHKB, PIK3C2A, CAV3
36simvastatin45 50 60 29 11 2414.0PIK3C2A, CHKB, HMGCR
37methotrexate45 50 1110.9HMGCR, CHKB, PIK3C2A
38theophylline45 29 11 2411.9HMGCR, CHKB, MB
39n acetylcysteine458.8HMGCR, CHKB, MB
40cholesterol45 29 11 2411.5CAV3, PIK3C2A, CHKB, HMGCR
41cyclosporin a45 29 6010.5HMGCR, CHKB, PIK3C2A
42bezafibrate45 29 1110.4HMGCR, CHKB, PIK3C2A, MB
43fluvastatin45 50 29 1111.4MB, PIK3C2A, CHKB, HMGCR
44thyroxine45 249.4MB, PIK3C2A, CHKB, HMGCR
45epinephrine45 11 2410.4MB, PIK3C2A, CHKB, HMGCR
46lactate458.4MB, PIK3C2A, CHKB, HMGCR
47heparin45 29 11 2411.4MB, PIK3C2A, CHKB, HMGCR
48vegf458.3HMGCR, CHKB, PIK3C2A, MB
49arginine458.3MB, PIK3C2A, CHKB, HMGCR
50creatinine458.0CAV3, MB, PIK3C2A, CHKB, HMGCR

GO Terms for genes affiliated with Creatine Phosphokinase, Elevated Serum

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Creatine Phosphokinase, Elevated Serum

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet