MCID: CRT045
MIFTS: 28

Creatine Phosphokinase, Elevated Serum malady

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

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MalaCards based summary: Creatine Phosphokinase, Elevated Serum is related to gas gangrene and status asthmaticus, and has symptoms including 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:46 123320

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

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Sources:
46OMIM, 44Novoseek
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Creatine Phosphokinase, Elevated Serum, Aliases & Descriptions:

Name: Creatine Phosphokinase, Elevated Serum 46 44


Classifications:

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


Related Diseases for Creatine Phosphokinase, Elevated Serum

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1gas gangrene10.4PIK3C2A
2status asthmaticus10.4PIK3C2A
3distal muscular dystrophy10.2CAV3, PIK3C2A
4limb-girdle muscular dystrophy10.2CHKB, CAV3
5ectopic pregnancy10.2PIK3C2A, CHKB
6pericardial effusion10.2PIK3C2A, CHKB
7compartment syndrome10.1CHKB, MB
8myotonic dystrophy10.1CHKB, PIK3C2A
9intermediate coronary syndrome10.1PIK3C2A, MB
10malignant hyperthermia10.1MB, PIK3C2A
11hypokalemia10.1MB, PIK3C2A
12myocarditis10.1MB, CHKB
13disseminated intravascular coagulation10.1MB, PIK3C2A
14hypothyroidism10.1PIK3C2A, CHKB
15primary hyperoxaluria10.1PIK3C2A, MB
16noonan syndrome10.1CHKB, CAV3
17rhabdomyosarcoma10.1CAV3, MB
18familial hyperlipidemia10.0PIK3C2A, HMGCR
19muscular dystrophy10.0PIK3C2A, CHKB, CAV3
20septic shock10.0PIK3C2A, HMGCR
21venous thrombosis10.0HMGCR, MB
22vascular disease10.0PIK3C2A, MB
23neuromuscular disease10.0CHKB, CAV3, MB
24neuropathy9.9PIK3C2A, MB, CAV3
25neuroleptic malignant syndrome9.9PIK3C2A, MB, CHKB
26pneumonia9.9PIK3C2A, MB
27metabolic acidosis9.9PIK3C2A, CHKB, MB
28chronic obstructive pulmonary disease9.9MB, HMGCR
29dilated cardiomyopathy9.9PIK3C2A, CHKB, MB
30proteinuria9.9HMGCR, PIK3C2A
31amyotrophic lateral sclerosis type 149.8CHKB, MB
32galactosemia9.8PIK3C2A, CHKB, HMGCR
33congestive heart failure9.8HMGCR, PIK3C2A, CHKB
34alzheimer's disease9.8HMGCR, CHKB, CAV3
35eosinophilia9.8PIK3C2A, HMGCR, MB
36duchenne muscular dystrophy9.7CAV3, PIK3C2A, CHKB, MB
37rheumatoid arthritis9.7CHKB, MB, HMGCR
38melanoma9.6MB, HMGCR, CHKB
39acute kidney failure9.6MB, HMGCR, CHKB, PIK3C2A
40dermatomyositis9.6PIK3C2A, CHKB, HMGCR, MB
41polymyositis9.6CHKB, HMGCR, MB, PIK3C2A
42myositis9.6CHKB, PIK3C2A, MB, HMGCR
43acute myocardial infarction9.6MB, HMGCR, CHKB, PIK3C2A
44coronary artery anomaly9.6MB, HMGCR, CHKB, PIK3C2A
45congenital heart disease9.6PIK3C2A, CHKB, HMGCR, MB
46myocardial infarction9.6MB, CHKB, PIK3C2A, HMGCR
47ischemia9.6CHKB, MB, HMGCR, PIK3C2A
48myopathy9.4CAV3, HMGCR, MB, 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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Symptoms by clinical synopsis from OMIM:

123320

Clinical features from OMIM:

123320

HPO human phenotypes related to Creatine Phosphokinase, Elevated Serum:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 elevated serum creatine phosphokinase HP:0003236
3 exercise-induced muscle cramps HP:0003710

Drugs & Therapeutics for Creatine Phosphokinase, Elevated Serum

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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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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:

6
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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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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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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Compounds related to Creatine Phosphokinase, Elevated Serum according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1thallium449.8CHKB, PIK3C2A
2ptca449.7CHKB, PIK3C2A
3fe3+449.6MB, CHKB
4policosanol449.5HMGCR, PIK3C2A
5coq10449.5HMGCR, CHKB
6phosphorus449.4PIK3C2A, CHKB
7clarithromycin44 1110.4CHKB, HMGCR
8diltiazem44 28 50 1112.3HMGCR, CHKB
9amiodarone44 50 28 1112.3CHKB, HMGCR
10rosuvastatin44 50 28 1112.3CHKB, HMGCR
11acetone449.3HMGCR, MB
12alpha-hydroxybutyrate449.3MB, CHKB, PIK3C2A
13dantrolene28 44 1111.3CHKB, PIK3C2A, MB
14succinylcholine44 50 28 1112.3MB, PIK3C2A, CHKB
15gamma-hydroxybutyrate449.2MB, CHKB, PIK3C2A
16phosphocreatine44 2410.2MB, CHKB, PIK3C2A
17propofol44 50 1111.2PIK3C2A, MB
18halothane44 50 28 1112.2MB, CHKB, PIK3C2A
19melphalan44 50 1111.2MB, CHKB, PIK3C2A
20clopidogrel44 50 24 1112.2HMGCR, CHKB
21glycogen44 2410.2CAV3, CHKB, PIK3C2A
22prednisolone44 28 1111.2PIK3C2A, CHKB, MB
23cocaine44 1110.2PIK3C2A, MB, CHKB
24citrate449.2MB, CHKB, PIK3C2A
25glycerol44 24 1111.1PIK3C2A, CHKB, MB
26nitroglycerin44 1110.1CHKB, PIK3C2A
27ascorbic acid44 2410.1MB, PIK3C2A, CHKB
28norepinephrine44 24 1111.1CHKB, PIK3C2A, MB
29gemfibrozil28 44 1111.0PIK3C2A, CHKB, HMGCR
30cerivastatin50 44 28 1112.0HMGCR, CHKB, PIK3C2A
31pravastatin44 50 28 24 1113.0HMGCR, CHKB, PIK3C2A
32lovastatin44 50 61 28 1113.0CHKB, HMGCR, PIK3C2A
33atorvastatin44 50 28 24 1113.0PIK3C2A, CHKB, HMGCR
34fatty acid449.0CAV3, PIK3C2A, CHKB
35simvastatin44 50 61 28 24 1114.0HMGCR, CHKB, PIK3C2A
36methotrexate50 44 1110.9PIK3C2A, CHKB, HMGCR
37theophylline44 28 24 1111.9CHKB, HMGCR, MB
38alpha tocopherol448.9CHKB, HMGCR, MB
39n acetylcysteine448.8MB, HMGCR, CHKB
40cyclosporin a44 28 6110.7CHKB, PIK3C2A, HMGCR
41cholesterol44 28 24 1111.5HMGCR, CAV3, CHKB, PIK3C2A
42bezafibrate44 28 1110.4CHKB, HMGCR, PIK3C2A, MB
43fluvastatin44 50 28 1111.4CHKB, HMGCR, PIK3C2A, MB
44thyroxine44 249.4HMGCR, PIK3C2A, MB, CHKB
45epinephrine44 24 1110.4CHKB, MB, HMGCR, PIK3C2A
46lactate448.4PIK3C2A, CHKB, HMGCR, MB
47heparin44 28 24 1111.4MB, PIK3C2A, CHKB, HMGCR
48vegf448.3MB, HMGCR, CHKB, PIK3C2A
49arginine448.3PIK3C2A, CHKB, HMGCR, MB
50creatinine448.0PIK3C2A, CHKB, HMGCR, CAV3, MB

GO Terms for genes affiliated with Creatine Phosphokinase, Elevated Serum

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet