MCID: CRT045
MIFTS: 27

Creatine Phosphokinase, Elevated Serum malady

Genetic diseases (common) category

Summaries for Creatine Phosphokinase, Elevated Serum

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48OMIM, 34MalaCards
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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:48 123320

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

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48OMIM, 46Novoseek
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Classifications:

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


Aliases & Descriptions:

creatine phosphokinase, elevated serum 48 46


Related Diseases for Creatine Phosphokinase, Elevated Serum

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Creatine Phosphokinase, Elevated Serum

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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Creatine Phosphokinase, Elevated Serum:

65
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, 16Gene 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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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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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:
46Novoseek, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB, 62Tocris 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
1thallium469.8CHKB, PIK3C2A
2ptca469.7PIK3C2A, CHKB
3fe3+469.6CHKB, MB
4policosanol469.5HMGCR, PIK3C2A
5coq10469.5HMGCR, CHKB
6phosphorus469.4CHKB, PIK3C2A
7clarithromycin46 1210.4HMGCR, CHKB
8amiodarone46 52 30 1212.3CHKB, HMGCR
9diltiazem46 30 52 1212.3CHKB, HMGCR
10rosuvastatin46 52 30 1212.3HMGCR, CHKB
11acetone469.3MB, HMGCR
12alpha-hydroxybutyrate469.3MB, CHKB, PIK3C2A
13dantrolene30 46 1211.3PIK3C2A, CHKB, MB
14succinylcholine46 52 30 1212.3MB, CHKB, PIK3C2A
15gamma-hydroxybutyrate469.2MB, CHKB, PIK3C2A
16phosphocreatine46 2510.2MB, CHKB, PIK3C2A
17propofol46 52 1211.2MB, PIK3C2A
18halothane46 52 30 1212.2MB, CHKB, PIK3C2A
19melphalan46 52 1211.2PIK3C2A, CHKB, MB
20clopidogrel46 52 25 1212.2HMGCR, CHKB
21glycogen46 2510.2CAV3, CHKB, PIK3C2A
22prednisolone46 30 1211.2PIK3C2A, CHKB, MB
23cocaine46 1210.2PIK3C2A, CHKB, MB
24citrate469.2MB, CHKB, PIK3C2A
25glycerol46 25 1211.1PIK3C2A, CHKB, MB
26nitroglycerin46 1210.1CHKB, PIK3C2A
27ascorbic acid46 2510.1PIK3C2A, CHKB, MB
28norepinephrine46 25 1211.1MB, CHKB, PIK3C2A
29gemfibrozil30 46 1211.0PIK3C2A, CHKB, HMGCR
30cerivastatin52 46 30 1212.0HMGCR, CHKB, PIK3C2A
31pravastatin46 52 30 25 1213.0PIK3C2A, CHKB, HMGCR
32lovastatin46 52 62 30 1213.0PIK3C2A, CHKB, HMGCR
33atorvastatin46 52 30 25 1213.0PIK3C2A, CHKB, HMGCR
34fatty acid469.0PIK3C2A, CHKB, CAV3
35simvastatin46 52 62 30 25 1214.0HMGCR, CHKB, PIK3C2A
36methotrexate52 46 1210.9HMGCR, CHKB, PIK3C2A
37theophylline46 30 25 1211.9CHKB, HMGCR, MB
38alpha tocopherol468.9MB, HMGCR, CHKB
39n acetylcysteine468.8MB, HMGCR, CHKB
40cyclosporin a46 30 6210.7PIK3C2A, CHKB, HMGCR
41cholesterol46 30 25 1211.5HMGCR, CAV3, CHKB, PIK3C2A
42bezafibrate46 30 1210.4MB, HMGCR, CHKB, PIK3C2A
43fluvastatin46 52 30 1211.4PIK3C2A, CHKB, HMGCR, MB
44thyroxine46 259.4PIK3C2A, CHKB, HMGCR, MB
45epinephrine46 25 1210.4PIK3C2A, CHKB, HMGCR, MB
46lactate468.4MB, HMGCR, CHKB, PIK3C2A
47heparin46 30 25 1211.4PIK3C2A, CHKB, HMGCR, MB
48vegf468.3PIK3C2A, CHKB, HMGCR, MB
49arginine468.3MB, HMGCR, CHKB, PIK3C2A
50creatinine468.0MB, HMGCR, CAV3, CHKB, PIK3C2A

GO Terms for genes affiliated with Creatine Phosphokinase, Elevated Serum

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17Gene 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Creatine Phosphokinase, Elevated Serum

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet