MCID: CRT045
MIFTS: 27

Creatine Phosphokinase, Elevated Serum malady

Genetic diseases (common) category
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Summaries for Creatine Phosphokinase, Elevated Serum

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47OMIM, 33MalaCards
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MalaCards: Creatine Phosphokinase, Elevated Serum is related to gas gangrene and status asthmaticus. An important gene associated with Creatine Phosphokinase, Elevated Serum is CAV3 (caveolin 3), and among its related pathways is Glycerophospholipid biosynthesis. The compounds thallium and ptca 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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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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 49)
idRelated DiseaseScoreTop Affiliating Genes
1gas gangrene10.1PIK3C2A
2status asthmaticus10.1PIK3C2A
3distal muscular dystrophy10.0CAV3, PIK3C2A
4limb-girdle muscular dystrophy10.0CHKB, CAV3
5ectopic pregnancy10.0CHKB, PIK3C2A
6pericardial effusion10.0PIK3C2A, CHKB
7compartment syndrome10.0CHKB, MB
8myotonic dystrophy10.0CHKB, PIK3C2A
9intermediate coronary syndrome10.0PIK3C2A, MB
10sudden cardiac death multi-gene panels10.0MB, CAV3
11malignant hyperthermia10.0MB, PIK3C2A
12myocarditis10.0CHKB, MB
13hypokalemia10.0PIK3C2A, MB
14disseminated intravascular coagulation10.0MB, PIK3C2A
15hypothyroidism10.0PIK3C2A, CHKB
16primary hyperoxaluria10.0MB, PIK3C2A
17noonan syndrome10.0CHKB, CAV3
18rhabdomyosarcoma10.0MB, CAV3
19muscular dystrophy10.0PIK3C2A, CHKB, CAV3
20familial hyperlipidemia10.0HMGCR, PIK3C2A
21septic shock10.0HMGCR, PIK3C2A
22venous thrombosis10.0HMGCR, MB
23vascular disease10.0MB, PIK3C2A
24neuromuscular disease10.0CHKB, CAV3, MB
25neuropathy10.0PIK3C2A, CAV3, MB
26neuroleptic malignant syndrome10.0PIK3C2A, CHKB, MB
27pneumonia10.0MB, PIK3C2A
28metabolic acidosis10.0PIK3C2A, CHKB, MB
29pulmonary disease, chronic obstructive10.0MB, HMGCR
30dilated cardiomyopathy10.0MB, CHKB, PIK3C2A
31proteinuria10.0HMGCR, PIK3C2A
32amyotrophic lateral sclerosis10.0MB, CHKB
33galactosemia10.0PIK3C2A, CHKB, HMGCR
34congestive heart failure10.0HMGCR, CHKB, PIK3C2A
35alzheimer's disease9.9HMGCR, CAV3, CHKB
36eosinophilia9.9PIK3C2A, HMGCR, MB
37duchenne muscular dystrophy9.9MB, CAV3, CHKB, PIK3C2A
38rheumatoid arthritis9.9CHKB, HMGCR, MB
39melanoma9.9MB, HMGCR, CHKB
40acute kidney failure9.9PIK3C2A, CHKB, HMGCR, MB
41dermatomyositis9.9PIK3C2A, CHKB, HMGCR, MB
42polymyositis9.9PIK3C2A, CHKB, HMGCR, MB
43myositis9.9MB, HMGCR, CHKB, PIK3C2A
44acute myocardial infarction9.9PIK3C2A, CHKB, HMGCR, MB
45coronary artery disease9.9PIK3C2A, CHKB, HMGCR, MB
46congenital heart disease9.9MB, HMGCR, CHKB, PIK3C2A
47myocardial infarction9.9PIK3C2A, CHKB, HMGCR, MB
48ischemia9.9PIK3C2A, CHKB, HMGCR, MB
49myopathy9.9MB, HMGCR, CAV3, CHKB, PIK3C2A

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



Diseases related to creatine phosphokinase, elevated serum

Symptoms for Creatine Phosphokinase, Elevated Serum

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47OMIM
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Symptoms by clinical synopsis from OMIM:

123320

Clinical features from OMIM:

123320

Drugs & Therapeutics for Creatine Phosphokinase, Elevated Serum

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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Variations for Creatine Phosphokinase, Elevated Serum

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Creatine Phosphokinase, Elevated Serum:

64
id Symbol AA change Variation ID SNP ID
1CAV3p.Val57MetVAR_010742
2CAV3p.Arg27GlnVAR_011512
3CAV3p.Pro29LeuVAR_029540

Clinvar genetic disease variations for Creatine Phosphokinase, Elevated Serum:

1
id Gene Name Type Significance SNP ID Assembly Location
1CAV3NM_033337.2(CAV3): c.136G> A (p.Ala46Thr)single nucleotide variantPathogenicrs116840789GRCh37Chr 3, 8787233: 8787233
2NM_033337.2(CAV3): c.80G> A (p.Arg27Gln)single nucleotide variantPathogenicrs116840778GRCh37Chr 3, 8775642: 8775642
3CAV3NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del)deletionPathogenicrs199476335GRCh37Chr 3, 8787387: 8787389
4NM_033337.2(CAV3): c.86C> T (p.Pro29Leu)single nucleotide variantPathogenicrs116840786GRCh37Chr 3, 8775648: 8775648

Expression for genes affiliated with Creatine Phosphokinase, Elevated Serum

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2BioGPS, 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

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Creatine Phosphokinase, Elevated Serum according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4CHKB, PIK3C2A

Compounds for genes affiliated with Creatine Phosphokinase, Elevated Serum

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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Creatine Phosphokinase, Elevated Serum according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1thallium459.8CHKB, PIK3C2A
2ptca459.7PIK3C2A, CHKB
3fe3+459.6CHKB, MB
4policosanol459.5HMGCR, PIK3C2A
5coq10459.5HMGCR, CHKB
6phosphorus459.4CHKB, PIK3C2A
7clarithromycin45 1110.4HMGCR, CHKB
8amiodarone45 51 29 1112.3CHKB, HMGCR
9diltiazem45 29 51 1112.3CHKB, HMGCR
10rosuvastatin45 51 29 1112.3HMGCR, CHKB
11acetone459.3MB, HMGCR
12alpha-hydroxybutyrate459.3MB, CHKB, PIK3C2A
13dantrolene29 45 1111.3PIK3C2A, CHKB, MB
14succinylcholine45 51 29 1112.3MB, CHKB, PIK3C2A
15gamma-hydroxybutyrate459.2MB, CHKB, PIK3C2A
16phosphocreatine45 2410.2MB, CHKB, PIK3C2A
17propofol45 51 1111.2MB, PIK3C2A
18halothane45 51 29 1112.2MB, CHKB, PIK3C2A
19melphalan45 51 1111.2PIK3C2A, CHKB, MB
20clopidogrel45 51 24 1112.2HMGCR, CHKB
21glycogen45 2410.2CAV3, CHKB, PIK3C2A
22prednisolone45 29 1111.2PIK3C2A, CHKB, MB
23cocaine45 1110.2PIK3C2A, CHKB, MB
24citrate459.2MB, CHKB, PIK3C2A
25glycerol45 24 1111.1PIK3C2A, CHKB, MB
26nitroglycerin45 1110.1CHKB, PIK3C2A
27ascorbic acid45 2410.1PIK3C2A, CHKB, MB
28norepinephrine45 24 1111.1MB, CHKB, PIK3C2A
29gemfibrozil29 45 1111.0PIK3C2A, CHKB, HMGCR
30cerivastatin51 45 29 1112.0HMGCR, CHKB, PIK3C2A
31pravastatin45 51 29 24 1113.0PIK3C2A, CHKB, HMGCR
32lovastatin45 51 61 29 1113.0PIK3C2A, CHKB, HMGCR
33atorvastatin45 51 29 24 1113.0PIK3C2A, CHKB, HMGCR
34fatty acid459.0PIK3C2A, CHKB, CAV3
35simvastatin45 51 61 29 24 1114.0HMGCR, CHKB, PIK3C2A
36methotrexate51 45 1110.9HMGCR, CHKB, PIK3C2A
37theophylline45 29 24 1111.9CHKB, HMGCR, MB
38alpha tocopherol458.9MB, HMGCR, CHKB
39n acetylcysteine458.8MB, HMGCR, CHKB
40cyclosporin a45 29 6110.7PIK3C2A, CHKB, HMGCR
41cholesterol45 29 24 1111.5HMGCR, CAV3, CHKB, PIK3C2A
42bezafibrate45 29 1110.4MB, HMGCR, CHKB, PIK3C2A
43fluvastatin45 51 29 1111.4PIK3C2A, CHKB, HMGCR, MB
44thyroxine45 249.4PIK3C2A, CHKB, HMGCR, MB
45epinephrine45 24 1110.4PIK3C2A, CHKB, HMGCR, MB
46lactate458.4MB, HMGCR, CHKB, PIK3C2A
47heparin45 29 24 1111.4PIK3C2A, CHKB, HMGCR, MB
48vegf458.3PIK3C2A, CHKB, HMGCR, MB
49arginine458.3MB, HMGCR, CHKB, PIK3C2A
50creatinine458.0MB, HMGCR, CAV3, CHKB, PIK3C2A

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:0319829.5CAV3, PIK3C2A

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

idNameGO IDScoreTop Affiliating Genes
1phospholipid metabolic processGO:0066449.4CHKB, PIK3C2A
2endocytosisGO:0068979.2CAV3, PIK3C2A
3negative regulation of MAP kinase activityGO:0434079.1HMGCR, CAV3

Products for genes affiliated with Creatine Phosphokinase, Elevated Serum

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  • Antibodies
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  • Antibodies

Sources for Creatine Phosphokinase, Elevated Serum

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet