HYPCK
MCID: CRT045
MIFTS: 33

Creatine Phosphokinase, Elevated Serum (HYPCK) malady

Categories: Genetic diseases

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

Aliases & Descriptions for Creatine Phosphokinase, Elevated Serum:

Name: Creatine Phosphokinase, Elevated Serum 54 13 52
Elevated Serum Creatine Phosphokinase 29
Hyperckmia 66
Hypck 66

Characteristics:

HPO:

32
creatine phosphokinase, elevated serum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 123320
MedGen 40 C0241005

Summaries for Creatine Phosphokinase, Elevated Serum

UniProtKB/Swiss-Prot : 66 HyperCKmia: Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.

MalaCards based summary : Creatine Phosphokinase, Elevated Serum, also known as elevated serum creatine phosphokinase, is related to isolated hyperckemia and myelofibrosis, and has symptoms including elevated serum creatine phosphokinase and exercise-induced muscle cramps. An important gene associated with Creatine Phosphokinase, Elevated Serum is CAV3 (Caveolin 3). The drugs Fenofibrate and Anticholesteremic Agents have been mentioned in the context of this disorder. Related phenotypes are Decreased Hepatitis C Virus pseudoparticles (HCVpp and homeostasis/metabolism

Description from OMIM: 123320

Related Diseases for Creatine Phosphokinase, Elevated Serum

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



Diseases related to Creatine Phosphokinase, Elevated Serum

Symptoms & Phenotypes for Creatine Phosphokinase, Elevated Serum

Symptoms by clinical synopsis from OMIM:

123320

Clinical features from OMIM:

123320

Human phenotypes related to Creatine Phosphokinase, Elevated Serum:

32
id Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 exercise-induced muscle cramps 32 HP:0003710

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp GR00234-A-1 8.62 CHKB PIK3C2A

MGI Mouse Phenotypes related to Creatine Phosphokinase, Elevated Serum:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.02 CAV3 CHKB HMGCR MB PIK3C2A

Drugs & Therapeutics for Creatine Phosphokinase, Elevated Serum

Drugs for Creatine Phosphokinase, Elevated Serum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4 49562-28-9 3339
2 Anticholesteremic Agents Phase 4
3 Antimetabolites Phase 4,Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
5 Hypolipidemic Agents Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2
7 Atorvastatin Calcium Phase 4,Phase 1 134523-03-8
8 Calcium, Dietary Phase 4
9
Entecavir Approved, Investigational Phase 3 142217-69-4 153941
10
Telbivudine Approved, Investigational Phase 3 3424-98-4 159269
11 Antibodies Phase 3
12 gamma-Globulins Phase 3
13 Immunoglobulins Phase 3
14 Immunoglobulins, Intravenous Phase 3
15 Rho(D) Immune Globulin Phase 3
16 Anti-Infective Agents Phase 3,Phase 2
17 Antiviral Agents Phase 3,Phase 2
18 Nucleic Acid Synthesis Inhibitors Phase 3
19
Altretamine Approved Phase 1, Phase 2 645-05-6 2123
20
Triamcinolone Approved, Vet_approved Phase 1, Phase 2 124-94-7 31307
21
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
22
Saquinavir Approved, Investigational Phase 2 127779-20-8 60787
23
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
24
Bezafibrate Approved Phase 2 41859-67-0 39042
25
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
26
Daptomycin Approved, Investigational Phase 2 103060-53-3 16129629
27
Vancomycin Approved Phase 2 1404-90-6 441141 14969
28 tannic acid Approved, Nutraceutical Phase 2
29 triamcinolone acetonide Phase 1, Phase 2
30 Triamcinolone diacetate Phase 1, Phase 2
31 Triamcinolone hexacetonide Phase 1, Phase 2
32 Anti-HIV Agents Phase 2
33 Anti-Retroviral Agents Phase 2
34 Cytochrome P-450 CYP3A Inhibitors Phase 2
35 Cytochrome P-450 Enzyme Inhibitors Phase 2
36 HIV Protease Inhibitors Phase 2
37
protease inhibitors Phase 2
38 Hypoglycemic Agents Phase 2
39 Anti-Bacterial Agents Phase 2
40 methicillin Phase 2
41
Methyltestosterone Approved 58-18-4 6010
42
Testosterone Approved, Investigational 58-22-0 6013
43
Acetylcysteine Approved, Investigational 616-91-1 12035
44
Simvastatin Approved 79902-63-9 54454
45
Creatine Approved, Nutraceutical 57-00-1 586
46 Natriuretic Peptide, Brain
47 Estrogens
48 Hormones
49 insulin
50 Insulin, Globin Zinc

Interventional clinical trials:

(show all 26)
id Name Status NCT ID Phase
1 A Study to Evaluate Fenofibrate Combination With Statin in Chinese Patients With Dyslipidemic Completed NCT01462877 Phase 4
2 Influence of Atorvastatin on Viral Replication During Antiretroviral Treatment Interruption Terminated NCT00355251 Phase 4
3 Efficacy and Safety Study of GB-0998 for Treatment of Steroid-resistant Polymyositis and Dermatomyositis (PM/DM) Completed NCT00335985 Phase 3
4 Telbivudine Versus Entecavir in Reducing Serum HBsAg Levels in Patients With HBeAg-positive Chronic Hepatitis B Completed NCT01595685 Phase 3
5 Prospective Randomized Study of Mesenchymal Stem Cell Therapy in Patients Undergoing Cardiac Surgery (PROMETHEUS) Completed NCT00587990 Phase 1, Phase 2
6 The Transendocardial Autologous Cells (hMSC or hBMC) in Ischemic Heart Failure Trial (TAC-HFT) Completed NCT00768066 Phase 1, Phase 2
7 A Study of Invirase (Saquinavir)/Ritonavir in HIV-Infected Infants and Children. Completed NCT00623597 Phase 2
8 Study In People With Type 2 Diabetes Completed NCT00196989 Phase 2
9 A Study of Bezafibrate in Mitochondrial Myopathy Recruiting NCT02398201 Phase 2
10 A Phase IIa Study of TAS-205 for Duchenne Muscular Dystrophy Active, not recruiting NCT02752048 Phase 2
11 Phase 2 Study of Safety, Efficacy, and Pharmacokinetics of Higher Doses of Daptomycin and Vancomycin in MRSA Bacteremia Terminated NCT00695903 Phase 2
12 Systemic Bioactivity of Inhaled Nebulized RNS60 Completed NCT02490865 Phase 1
13 Multiple Dose Study Of PF-05231023 In Adult Subjects Who Have Poor Lipid Control With And Without Type 2 Diabetes Mellitus Completed NCT01673178 Phase 1
14 The Effects of Preconditioning on Intramuscular High-Energy Phosphate Levels During Ischemia Unknown status NCT00883467
15 Quantification and Description of the Increase in Serum Troponin Following Acute Coronary Syndrome Unknown status NCT01698021
16 High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy Unknown status NCT02156141
17 Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia Unknown status NCT01482494
18 Assessment of Severity and Prognosis in Elderly Patients With COPD and Complex Chronic Comorbidities Unknown status NCT01893918
19 High Sensitivity Troponin T Levels Following DC Cardioversion for Atrial Fibrillation / Atrial Flutter Completed NCT02268799
20 Multi-ingredient Supplement for Strength and Power Completed NCT01971723
21 Cohort of STEMI Patients Completed NCT02822638
22 Amino Acid Kinetics in Blood After Consuming Different Milk Protein Supplements Completed NCT02882386
23 Redox Status and Immune Function Completed NCT02930031
24 Pattern of Statins Use in Catalonia Completed NCT01477944
25 A High-Resolution Magnetic Resonance Imaging Study to Evaluate the Effect of Rosuvastatin on Carotid Atherosclerotic Plaques Recruiting NCT02305862
26 Feasibility Study of Simvastatin in Hodgkin's Lymphoma Survivors Terminated NCT00746603

Search NIH Clinical Center for Creatine Phosphokinase, Elevated Serum

Genetic Tests for Creatine Phosphokinase, Elevated Serum

Genetic tests related to Creatine Phosphokinase, Elevated Serum:

id Genetic test Affiliating Genes
1 Creatine Phosphokinase, Elevated Serum 29

Anatomical Context for Creatine Phosphokinase, Elevated Serum

Publications for Creatine Phosphokinase, Elevated Serum

Variations for Creatine Phosphokinase, Elevated Serum

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

66
id Symbol AA change Variation ID SNP ID
1 CAV3 p.Val57Met VAR_010742 rs116840795
2 CAV3 p.Arg27Gln VAR_011512 rs116840778
3 CAV3 p.Pro29Leu VAR_029540 rs116840786

ClinVar genetic disease variations for Creatine Phosphokinase, Elevated Serum:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
2 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
3 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
4 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh37 Chromosome 3, 8775648: 8775648
5 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dupTA (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh37 Chromosome 9, 119461386: 119461387
6 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh37 Chromosome X, 32305797: 32305797

Expression for Creatine Phosphokinase, Elevated Serum

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

Pathways for Creatine Phosphokinase, Elevated Serum

GO Terms for Creatine Phosphokinase, Elevated Serum

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

id Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.62 CAV3 PIK3C2A

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

id Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 8.96 CAV3 PIK3C2A
2 negative regulation of MAP kinase activity GO:0043407 8.62 CAV3 HMGCR

Sources for Creatine Phosphokinase, Elevated Serum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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