H-CK
MCID: ISL151
MIFTS: 35

Isolated Elevated Serum Creatine Phosphokinase Levels (H-CK)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Isolated Elevated Serum Creatine Phosphokinase Levels

MalaCards integrated aliases for Isolated Elevated Serum Creatine Phosphokinase Levels:

Name: Isolated Elevated Serum Creatine Phosphokinase Levels 12
Elevated Serum Creatine Phosphokinase 25 29 6
Idiopathic Hyperckemia 12 25 36
Isolated Hyperckemia 12 25
Elevated Serum Cpk 12 25
Idiopathic Persistent Elevation of Serum Creatine Kinase 25
H-Ck 25

Classifications:



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Disease Ontology 12 DOID:0111338
KEGG 36 H02181

Summaries for Isolated Elevated Serum Creatine Phosphokinase Levels

KEGG : 36 Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle weakness in patients with myopathies, but it may also be found in subjects with a normal neurological examination. This condition is labeled asymptomatic or isolated hyperCKemia and may be due to subclinical or preclinical neuromuscular disorders, dystrophinopathy carrier state, hypothyroidism, hypoparathyroidism, alcoholism, or intake of statins and other drugs. When the cause is not found, even after extensive investigations, the condition is defined as idiopathic hyperCKemia. Mutations in the human CAV3 gene, leading to reduced expression of caveolin-3, which is the major muscle-specific caveolar protein, may result in hyperCKemia.

MalaCards based summary : Isolated Elevated Serum Creatine Phosphokinase Levels, also known as elevated serum creatine phosphokinase, is related to malignant hyperthermia and creatine phosphokinase, elevated serum. An important gene associated with Isolated Elevated Serum Creatine Phosphokinase Levels is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion. Affiliated tissues include testes, skeletal muscle and kidney, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has material basis in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3.

Genetics Home Reference : 25 Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.

Related Diseases for Isolated Elevated Serum Creatine Phosphokinase Levels

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 29.7 LAMA2 DMD CAV3
2 creatine phosphokinase, elevated serum 29.5 TCAP LAMA2 GDAP1 GAA DMD CAV3
3 muscular dystrophy, becker type 29.5 LAMA2 DMD CAV3
4 muscular dystrophy, duchenne type 29.1 TCAP LAMA2 DMD CAV3
5 limb-girdle muscular dystrophy 28.4 TCAP LAMA2 DMD CAV3 ANO5
6 myopathy 28.4 TCAP LAMA2 GAA CAV3 ANO5
7 autosomal recessive limb-girdle muscular dystrophy 28.2 TCAP LAMA2 DMD CAV3 ANO5
8 muscular dystrophy 28.1 TCAP LAMA2 GAA DMD CAV3 ANO5
9 neuromuscular disease 27.4 TCAP LAMA2 GDAP1 GAA DMD CAV3
10 rippling muscle disease 2 11.3
11 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 CAV3 ANO5
12 muscular dystrophy, limb-girdle, autosomal dominant 3 10.2 CAV3 ANO5
13 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 DMD CAV3
14 cardiomyopathy, dilated, 3b 10.1 DMD CAV3
15 autosomal dominant limb-girdle muscular dystrophy 10.1 CAV3 ANO5
16 blood group--kell system 10.1
17 hypertension, essential 10.1
18 ocular motor apraxia 10.1
19 mcleod syndrome 10.1
20 neuroleptic malignant syndrome 10.1
21 chronic granulomatous disease 10.1
22 choline deficiency disease 10.1
23 malignant hyperthermia susceptibility 10.1
24 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 TCAP CAV3
25 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 TCAP ANO5
26 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 TCAP DMD
27 myopathy, myofibrillar, 3 10.0 TCAP CAV3
28 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 TCAP DMD
29 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 DMD CAV3
30 reducing body myopathy 10.0 TCAP DMD
31 restless legs syndrome 1 10.0
32 hypokalemic periodic paralysis, type 1 10.0
33 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
35 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
36 restless legs syndrome 10.0
37 sensorineural hearing loss 10.0
38 agammaglobulinemia 10.0
39 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.0
40 periodic paralysis 10.0
41 muscular dystrophy, limb-girdle, autosomal recessive 1 9.9
42 familial isolated dilated cardiomyopathy 9.9 TCAP DMD
43 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 TCAP CAV3 ANO5
44 pontocerebellar hypoplasia, type 8 9.8 LAMA2 CAV3
45 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 TCAP CAV3 ANO5
46 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 TCAP CAV3 ANO5
47 muscular dystrophy, limb-girdle, autosomal dominant 2 9.8 TCAP CAV3 ANO5
48 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 TCAP CAV3 ANO5
49 myopathy, congenital 9.8 GAA DMD
50 centronuclear myopathy 9.8 DMD CAV3

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



Diseases related to Isolated Elevated Serum Creatine Phosphokinase Levels

Symptoms & Phenotypes for Isolated Elevated Serum Creatine Phosphokinase Levels

MGI Mouse Phenotypes related to Isolated Elevated Serum Creatine Phosphokinase Levels:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ANO5 DMD GAA GDAP1 LAMA2 TCAP
2 cellular MP:0005384 9.7 ANO5 CAV3 DMD GAA GDAP1 LAMA2
3 homeostasis/metabolism MP:0005376 9.5 ANO5 CAV3 DMD GAA GDAP1 LAMA2
4 muscle MP:0005369 9.1 ANO5 CAV3 DMD GAA LAMA2 TCAP

Drugs & Therapeutics for Isolated Elevated Serum Creatine Phosphokinase Levels

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

Genetic Tests for Isolated Elevated Serum Creatine Phosphokinase Levels

Genetic tests related to Isolated Elevated Serum Creatine Phosphokinase Levels:

# Genetic test Affiliating Genes
1 Elevated Serum Creatine Phosphokinase 29 CAV3

Anatomical Context for Isolated Elevated Serum Creatine Phosphokinase Levels

MalaCards organs/tissues related to Isolated Elevated Serum Creatine Phosphokinase Levels:

40
Testes, Skeletal Muscle, Kidney

Publications for Isolated Elevated Serum Creatine Phosphokinase Levels

Articles related to Isolated Elevated Serum Creatine Phosphokinase Levels:

(show all 33)
# Title Authors PMID Year
1
Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. 61
30900170 2019
2
[Case report: idiopathic hyperCKemia during pregnancy]. 61
30897887 2019
3
Characteristic findings of skeletal muscle MRI in caveolinopathies. 61
30174172 2018
4
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 61
29382405 2018
5
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. 61
28952030 2017
6
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. 61
28433475 2017
7
A Case of Asymptomatic Inclusion Body Myositis. 61
28221303 2017
8
Asymptomatic hyperCKemia during a two-year monitoring period: A case report and literature overview. 61
28123712 2017
9
[A case of chronic myopathy associated with an antibody to signal recognition particle (SRP) following long-term asymptomatic hypercreatinekinasemia]. 61
25904255 2015
10
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 61
24468540 2014
11
Single-fiber electromyography in hyperCKemia: the value of fiber density. 61
22068218 2012
12
Variation of serum creatine kinase (CK) levels and prevalence of persistent hyperCKemia in a Norwegian normal population. The Tromsø Study. 61
21592795 2011
13
Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. 61
21343608 2011
14
Malignant Hyperthermia and Idiopathic HyperCKemia. 61
22162697 2011
15
Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia. 61
19704085 2009
16
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. 61
19353846 2009
17
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia. 61
18813041 2008
18
Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family. 61
18833644 2008
19
Hypertension risk in idiopathic hyperCKemia. 61
18204808 2008
20
Familial idiopathic hyper-CK-emia: an underrecognized condition. 61
16502425 2006
21
Early clinical heterogeneity in choreoacanthocytosis. 61
15824261 2005
22
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels. 61
11993531 2002
23
Normalization of creatine kinase level during pregnancy in idiopathic hyperCKemia. 61
11532557 2001
24
Creatine kinase revisited. 61
19078624 2001
25
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 61
10746614 2000
26
HyperCKemia as the only sign of McArdle's disease in a child. 61
10695902 2000
27
Idiopathic hyperCKemia revisited. 61
9660505 1998
28
Malignant hyperthermia testing in patients with persistently increased serum creatine kinase levels. 61
9141928 1997
29
Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling. 61
8958338 1996
30
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. 61
8533818 1995
31
[A case report of idiopathic hypokalemic periodic paralysis and idiopathic hyperCKemia with hypogammaglobulinemia in two brothers]. 61
3665260 1987
32
[A case of idiopathic hyperCKemia with CK-linked immunoglobulin (IgA-lambda)]. 61
3103965 1986
33
Idiopathic hyperCKemia. 61
6538316 1984

Variations for Isolated Elevated Serum Creatine Phosphokinase Levels

ClinVar genetic disease variations for Isolated Elevated Serum Creatine Phosphokinase Levels:

6 (show all 36) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)SNV Pathogenic 4200 rs104894080 8:75276240-75276240 8:74364005-74364005
2 CAV3 NM_033337.2(CAV3):c.136G>A (p.Ala46Thr)SNV Pathogenic 8281 rs116840789 3:8787233-8787233 3:8745547-8745547
3 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln)SNV Pathogenic 8283 rs116840778 3:8775642-8775642 3:8733956-8733956
4 CAV3 NM_033337.2(CAV3):c.86C>T (p.Pro29Leu)SNV Pathogenic 8287 rs116840786 3:8775648-8775648 3:8733962-8733962
5 CAPN3 , SGCB NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
6 LAMA2 NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter)SNV Pathogenic 92980 rs398123383 6:129781432-129781432 6:129460287-129460287
7 ASTN2 , TRIM32 NM_012210.3(TRIM32):c.1361_1362TA[4] (p.Thr456fs)short repeat Pathogenic 291311 rs886044913 9:119461381-119461382 9:116699102-116699103
8 DMD NM_000109.4(DMD):c.6115C>T (p.Gln2039Ter)SNV Pathogenic 369655 rs1057516028 X:32305797-32305797 X:32287680-32287680
9 TCAP NM_003673.3(TCAP):c.90_91del (p.Ser31fs)deletion Pathogenic 446463 rs1555606976 17:37821701-37821702 17:39665448-39665449
10 DMD NM_004006.2(DMD):c.93+1G>CSNV Pathogenic 523470 rs886042604 X:33038255-33038255 X:33020138-33020138
11 subset of 18 genes: HNF1B GRCh37/hg19 17q12(chr17:34611352-36248918)copy number gain Pathogenic 523265 17:34611352-36248918
12 GAA NM_000152.5(GAA):c.4G>T (p.Gly2Ter)SNV Pathogenic 560377 rs1567825175 17:78078389-78078389 17:80104590-80104590
13 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs)duplication Pathogenic/Likely pathogenic 2164 rs137854521 11:22242646-22242647 11:22221100-22221101
14 DMD NM_004013.2(DMD):c.-62dupduplication Likely pathogenic 523469 rs1556880327 X:31792299-31792300 X:31774182-31774183
15 PKD1 NM_001009944.3(PKD1):c.7567_7569GAG[1] (p.Glu2524del)short repeat Likely pathogenic 523389 rs1555452876 16:2156223-2156225 16:2106222-2106224
16 DMD NM_000109.4(DMD):c.626-39498A>GSNV Likely pathogenic 446469 rs1556980528 X:32756908-32756908 X:32738791-32738791
17 ANO5 NM_213599.2(ANO5):c.364-2A>GSNV Likely pathogenic 446472 rs776474397 11:22248846-22248846 11:22227300-22227300
18 GMPPB NM_013334.3(GMPPB):c.358A>G (p.Met120Val)SNV Likely pathogenic 560362 rs1559697515 3:49760449-49760449 3:49723016-49723016
19 subset of 273 genes: AR , ARHGEF9 , BCOR , CASK , CLCN5 , CYBB , DDX3X , DLG3 , DMD , EBP , EDA , EFNB1 , FGD1 , FTSJ1 , HDAC8 , IQSEC2 , KDM5C , KDM6A , MAOA , NDP , NEXMIF , NYX , OPHN1 , OTC , PHF8 , PORCN , PQBP1 , RP2 , SLC16A2 , SLC35A2 , SMC1A , SYN1 , SYP , TSPAN7 , USP9X , WDR45 , XIST , ZC4H2 , ZNF41 , ZNF674 46,Y,inv(X)(p21.1q13.3)inversion Likely pathogenic 694513 X:32196272-75245806
20 DMD NM_000109.4(DMD):c.10187del (p.Asp3396fs)deletion Likely pathogenic 427762 rs1114167437 X:31196798-31196798 X:31178681-31178681
21 DMD NM_000109.4(DMD):c.4047+1deldeletion Likely pathogenic 427765 rs1114167439 X:32456357-32456357 X:32438240-32438240
22 ANO5 NM_213599.2(ANO5):c.758A>C (p.His253Pro)SNV Likely pathogenic 291313 rs886044915 11:22257818-22257818 11:22236272-22236272
23 DMD NM_000109.4(DMD):c.9503A>G (p.Asp3168Gly)SNV Likely pathogenic 291316 rs886044916 X:31227651-31227651 X:31209534-31209534
24 ANO5 NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile)SNV Conflicting interpretations of pathogenicity 286450 rs375014127 11:22283708-22283708 11:22262162-22262162
25 CAPN3 NM_000070.3(CAPN3):c.1746-20C>GSNV Conflicting interpretations of pathogenicity 92408 rs201892814 15:42695919-42695919 15:42403721-42403721
26 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)SNV Conflicting interpretations of pathogenicity 8279 rs116840776 3:8787313-8787313 3:8745627-8745627
27 OPA1 NM_130837.2(OPA1):c.113_130del (p.Arg38_Ser43del)deletion Conflicting interpretations of pathogenicity 214916 rs863224140 3:193332587-193332604 3:193614798-193614815
28 LAMA2 NM_000426.3(LAMA2):c.2450+16A>GSNV Conflicting interpretations of pathogenicity 507122 rs1024374408 6:129591912-129591912 6:129270767-129270767
29 ANO5 NM_213599.2(ANO5):c.1965G>C (p.Trp655Cys)SNV Uncertain significance 523571 rs760137559 11:22291924-22291924 11:22270378-22270378
30 RYR1 NM_000540.2(RYR1):c.1264G>A (p.Gly422Arg)SNV Uncertain significance 523377 rs757157750 19:38943478-38943478 19:38452838-38452838
31 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser)SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535
32 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln)SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886
33 RYR1 NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys)SNV Uncertain significance 224400 rs138593495 19:39027398-39027398 19:38536758-38536758
34 CAV3 NM_001234.5(CAV3):c.290_292del (p.Phe97del)deletion Uncertain significance 8286 rs199476335 3:8787385-8787387 3:8745699-8745701
35 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr)SNV Uncertain significance 288112 rs773309037 3:8787497-8787497 3:8745811-8745811
36 RYR1 NM_000540.2(RYR1):c.5000G>A (p.Arg1667His)SNV Uncertain significance 373680 rs138978909 19:38976295-38976295 19:38485655-38485655

Expression for Isolated Elevated Serum Creatine Phosphokinase Levels

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

Pathways for Isolated Elevated Serum Creatine Phosphokinase Levels

Pathways related to Isolated Elevated Serum Creatine Phosphokinase Levels according to KEGG:

36
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

GO Terms for Isolated Elevated Serum Creatine Phosphokinase Levels

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

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 9.26 LAMA2 CAV3
2 dystrophin-associated glycoprotein complex GO:0016010 9.16 DMD CAV3
3 Z disc GO:0030018 9.13 TCAP DMD CAV3
4 sarcolemma GO:0042383 8.8 LAMA2 DMD CAV3

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.54 LAMA2 DMD CAV3
2 tissue development GO:0009888 9.48 LAMA2 GAA
3 muscle filament sliding GO:0030049 9.46 TCAP DMD
4 regulation of heart rate GO:0002027 9.43 DMD CAV3
5 response to muscle stretch GO:0035994 9.4 TCAP DMD
6 nucleus localization GO:0051647 9.32 DMD CAV3
7 detection of muscle stretch GO:0035995 9.26 TCAP CAV3
8 regulation of skeletal muscle contraction GO:0014819 9.16 DMD CAV3
9 cardiac muscle contraction GO:0060048 9.13 TCAP GAA DMD
10 muscle cell cellular homeostasis GO:0046716 8.8 GAA DMD CAV3

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

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

Sources for Isolated Elevated Serum Creatine Phosphokinase Levels

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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