MCID: CRT045
MIFTS: 29

Creatine Phosphokinase, Elevated Serum

Categories: Genetic diseases

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

MalaCards integrated aliases for Creatine Phosphokinase, Elevated Serum:

Name: Creatine Phosphokinase, Elevated Serum 53 28 13 51
Hyperckemia, Idiopathic 53
Cpk, Elevated Serum 53
Hyperckmia 71
Hypck 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
creatine phosphokinase, elevated serum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 123320
MedGen 39 C0241005
SNOMED-CT via HPO 65 263681008

Summaries for Creatine Phosphokinase, Elevated Serum

UniProtKB/Swiss-Prot : 71 HyperCKmia: Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.

MalaCards based summary : Creatine Phosphokinase, Elevated Serum, also known as hyperckemia, idiopathic, is related to isolated hyperckemia and distal muscular dystrophy, 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), and among its related pathways/superpathways is Striated Muscle Contraction. Related phenotypes are cellular and homeostasis/metabolism

Description from OMIM: 123320

Related Diseases for Creatine Phosphokinase, Elevated Serum

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 isolated hyperckemia 31.6 CAV3 DMD GDAP1 TCAP
2 distal muscular dystrophy 10.3 CAV3 DMD
3 muscular dystrophy-dystroglycanopathy , type b, 5 10.3 CAV3 DMD
4 muscular dystrophy, limb-girdle, type 2f 10.2 DMD TCAP
5 chromosome xp21 deletion syndrome 10.2 DMD PIK3C2A
6 muscle disorders 10.2 CAV3 PIK3C2A
7 gas gangrene 10.2 DMD PIK3C2A
8 familial isolated dilated cardiomyopathy 10.1 DMD TCAP
9 muscular dystrophy, limb-girdle, type 2b 10.0 CAV3 DMD TCAP
10 autosomal recessive limb-girdle muscular dystrophy 10.0 CAV3 DMD TCAP
11 muscular dystrophy, limb-girdle, type 2a 10.0 CAV3 DMD TCAP
12 limb-girdle muscular dystrophy 10.0 CAV3 DMD TCAP
13 myotonia 10.0 CHKB DMD
14 virus associated hemophagocytic syndrome 9.9 MB PIK3C2A
15 pericardial effusion 9.9 CHKB PIK3C2A
16 interstitial myocarditis 9.9 MB PIK3C2A
17 posterior myocardial infarction 9.8 MB PIK3C2A
18 myositis fibrosa 9.8 MB PIK3C2A
19 anuria 9.8 MB PIK3C2A
20 plexopathy 9.8 MB PIK3C2A
21 intermediate coronary syndrome 9.8 MB PIK3C2A
22 acute mountain sickness 9.8 MB PIK3C2A
23 pseudohyperkalemia, familial, 2, due to red cell leak 9.8 MB PIK3C2A
24 muscular dystrophy 9.8 CAV3 DMD TCAP
25 myoglobinuria 9.8 MB PIK3C2A
26 acute kidney failure 9.7 MB PIK3C2A
27 dermatomyositis 9.7 CHKB PIK3C2A
28 disseminated intravascular coagulation 9.6 MB PIK3C2A
29 coronary artery anomaly 9.5 HMGCR MB PIK3C2A
30 myocarditis 9.5 DMD MB
31 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.4 CHKB MB PIK3C2A
32 neuroleptic malignant syndrome 9.4 CHKB MB PIK3C2A
33 compartment syndrome 9.4 CHKB MB PIK3C2A
34 polymyositis 9.4 CHKB MB PIK3C2A
35 acute myocardial infarction 9.4 CHKB MB PIK3C2A
36 muscle tissue disease 9.4 CAV3 DMD MB PIK3C2A
37 muscular dystrophy, duchenne type 9.4 CAV3 DMD MB PIK3C2A
38 dilated cardiomyopathy 9.2 CHKB DMD MB TCAP
39 malignant hyperthermia 9.2 CHKB DMD MB PIK3C2A
40 myositis 9.2 CHKB DMD MB PIK3C2A
41 myocardial infarction 9.0 CHKB HMGCR MB PIK3C2A
42 myopathy 8.2 CAV3 CHKB DMD HMGCR MB PIK3C2A

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 via clinical synopsis from OMIM:

53
Lab:
elevated serum cpk
normal muscle biopsy
normal exercise lactic acid production

Muscle:
muscle cramps with exertion


Clinical features from OMIM:

123320

Human phenotypes related to Creatine Phosphokinase, Elevated Serum:

31
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 31 HP:0003236
2 exercise-induced muscle cramps 31 HP:0003710

MGI Mouse Phenotypes related to Creatine Phosphokinase, Elevated Serum:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 CAV3 DMD GDAP1 MB PIK3C2A TCAP
2 homeostasis/metabolism MP:0005376 9.56 CAV3 CHKB DMD GDAP1 HMGCR MB
3 muscle MP:0005369 9.02 CAV3 CHKB DMD MB TCAP

Drugs & Therapeutics for Creatine Phosphokinase, Elevated Serum

Search Clinical Trials , NIH Clinical Center for Creatine Phosphokinase, Elevated Serum

Genetic Tests for Creatine Phosphokinase, Elevated Serum

Genetic tests related to Creatine Phosphokinase, Elevated Serum:

# Genetic test Affiliating Genes
1 Creatine Phosphokinase, Elevated Serum 28 CAV3

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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
2 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
3 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh37 Chromosome 3, 8775648: 8775648
4 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
5 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dupTA (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh38 Chromosome 9, 116699107: 116699108
6 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh37 Chromosome X, 32305797: 32305797
7 TCAP NM_003673.3(TCAP): c.90_91delGT (p.Ser31Hisfs) deletion Pathogenic GRCh38 Chromosome 17, 39665449: 39665450

Expression for Creatine Phosphokinase, Elevated Serum

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

Pathways for Creatine Phosphokinase, Elevated Serum

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

# Super pathways Score Top Affiliating Genes
1 10.48 DMD TCAP

GO Terms for Creatine Phosphokinase, Elevated Serum

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

# Name GO ID Score Top Affiliating Genes
1 dystrophin-associated glycoprotein complex GO:0016010 8.96 CAV3 DMD
2 Z disc GO:0030018 8.8 CAV3 DMD TCAP

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

# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.48 CAV3 DMD
2 cardiac muscle contraction GO:0060048 9.46 DMD TCAP
3 negative regulation of MAP kinase activity GO:0043407 9.43 CAV3 HMGCR
4 muscle filament sliding GO:0030049 9.4 DMD TCAP
5 regulation of heart rate GO:0002027 9.37 CAV3 DMD
6 muscle cell cellular homeostasis GO:0046716 9.32 CAV3 DMD
7 response to muscle stretch GO:0035994 9.26 DMD TCAP
8 nucleus localization GO:0051647 9.16 CAV3 DMD
9 detection of muscle stretch GO:0035995 8.96 CAV3 TCAP
10 regulation of skeletal muscle contraction GO:0014819 8.62 CAV3 DMD

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 DMD TCAP
2 nitric-oxide synthase binding GO:0050998 8.62 CAV3 DMD

Sources for Creatine Phosphokinase, Elevated Serum

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