MCID: CRT045
MIFTS: 31

Creatine Phosphokinase, Elevated Serum malady

Genetic diseases (common) category

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

About this section
Sources:
46OMIM, 9diseasecard, 44Novoseek, 22GTR
See all sources

Aliases & Descriptions for Creatine Phosphokinase, Elevated Serum:

Name: Creatine Phosphokinase, Elevated Serum 46 9 44 22


Classifications:



External Ids:

OMIM46 123320

Summaries for Creatine Phosphokinase, Elevated Serum

About this section
MalaCards based summary: Creatine Phosphokinase, Elevated Serum is related to gas gangrene and status asthmaticus, and has symptoms including autosomal dominant inheritance, elevated serum creatine phosphokinase and exercise-induced muscle cramps. 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

Related Diseases for Creatine Phosphokinase, Elevated Serum

About this section

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1gas gangrene10.4PIK3C2A
2status asthmaticus10.4PIK3C2A
3muscular dystrophy, limb-girdle, type 2j10.3
4muscular dystrophy, limb-girdle, type 2e10.3
5congenital disorder of glycosylation, type iih10.3
6distal muscular dystrophy10.2CAV3, PIK3C2A
7limb-girdle muscular dystrophy10.2CHKB, CAV3
8ectopic pregnancy10.2CHKB, PIK3C2A
9pericardial effusion10.2PIK3C2A, CHKB
10compartment syndrome10.1CHKB, MB
11myotonic dystrophy10.1CHKB, PIK3C2A
12intermediate coronary syndrome10.1PIK3C2A, MB
13spinocerebellar ataxia10.1CHKB, MB
14malignant hyperthermia10.1MB, PIK3C2A
15myocarditis10.1CHKB, MB
16hypokalemia10.1PIK3C2A, MB
17disseminated intravascular coagulation10.1MB, PIK3C2A
18hypothyroidism10.1PIK3C2A, CHKB
19primary hyperoxaluria10.1MB, PIK3C2A
20noonan syndrome 110.1CHKB, CAV3
21rhabdomyosarcoma10.1MB, CAV3
22atrial fibrillation10.0CHKB, HMGCR
23muscular dystrophy10.0PIK3C2A, CHKB, CAV3
24familial hyperlipidemia10.0HMGCR, PIK3C2A
25thrombophilia due to thrombin defect10.0HMGCR, MB
26vascular disease10.0MB, PIK3C2A
27neuromuscular disease9.9CHKB, CAV3, MB
28lipid metabolism disorder9.9MB, HMGCR
29neuropathy9.9PIK3C2A, CAV3, MB
30neuroleptic malignant syndrome9.9PIK3C2A, CHKB, MB
31pneumonia9.9MB, PIK3C2A
32metabolic acidosis9.9PIK3C2A, CHKB, MB
33pulmonary disease, chronic obstructive9.9MB, HMGCR
34dilated cardiomyopathy9.9MB, CHKB, PIK3C2A
35proteinuria9.9HMGCR, PIK3C2A
36galactosemia9.8PIK3C2A, CHKB, HMGCR
37amyotrophic lateral sclerosis 19.8MB, CHKB
38congestive heart failure9.8HMGCR, CHKB, PIK3C2A
39eosinophilia9.8PIK3C2A, HMGCR, MB
40alzheimer disease9.8HMGCR, CAV3, CHKB
41duchenne muscular dystrophy9.7MB, CAV3, CHKB, PIK3C2A
42rheumatoid arthritis9.7CHKB, HMGCR, MB
43melanoma9.6MB, HMGCR, CHKB
44acute kidney failure9.6PIK3C2A, CHKB, HMGCR, MB
45dermatomyositis9.6PIK3C2A, CHKB, HMGCR, MB
46polymyositis9.6PIK3C2A, CHKB, HMGCR, MB
47myositis9.6MB, HMGCR, CHKB, PIK3C2A
48acute myocardial infarction9.6PIK3C2A, CHKB, HMGCR, MB
49coronary artery disease9.6PIK3C2A, CHKB, HMGCR, MB
50congenital heart disease9.6MB, HMGCR, 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

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Creatine Phosphokinase, Elevated Serum

Search NIH Clinical Center for Creatine Phosphokinase, Elevated Serum

Genetic Tests for Creatine Phosphokinase, Elevated Serum

About this section

Genetic tests related to Creatine Phosphokinase, Elevated Serum:

id Genetic test Affiliating Genes
1 Creatine Phosphokinase, Elevated Serum22

Anatomical Context for Creatine Phosphokinase, Elevated Serum

About this section

Animal Models for Creatine Phosphokinase, Elevated Serum or affiliated genes

About this section

Publications for Creatine Phosphokinase, Elevated Serum

About this section

Variations for Creatine Phosphokinase, Elevated Serum

About this section

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

63
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:

5
id Gene Variation 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

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

Pathways for genes affiliated with Creatine Phosphokinase, Elevated Serum

About this section

Pathways related to Creatine Phosphokinase, Elevated Serum according to GeneCards Suite gene sharing:

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

Compounds for genes affiliated with Creatine Phosphokinase, Elevated Serum

About this section

Compounds related to Creatine Phosphokinase, Elevated Serum according to GeneCards Suite gene sharing:

(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 60 28 1113.0CHKB, HMGCR, PIK3C2A
33atorvastatin44 50 28 24 1113.0PIK3C2A, CHKB, HMGCR
34fatty acid449.0CAV3, PIK3C2A, CHKB
35simvastatin44 50 60 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 6010.7CHKB, 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

About this section

Cellular components related to Creatine Phosphokinase, Elevated Serum according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vesicleGO:00319829.5CAV3, PIK3C2A

Biological processes related to Creatine Phosphokinase, Elevated Serum according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phospholipid metabolic processGO:00066449.4CHKB, PIK3C2A
2endocytosisGO:00068979.2CAV3, PIK3C2A
3negative regulation of MAP kinase activityGO:00434079.1HMGCR, CAV3

Sources for Creatine Phosphokinase, Elevated Serum

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet