HYPCK
MCID: CRT045
MIFTS: 39

Creatine Phosphokinase, Elevated Serum (HYPCK)

Categories: Genetic diseases

Aliases & Classifications for Creatine Phosphokinase, Elevated Serum

MalaCards integrated aliases for Creatine Phosphokinase, Elevated Serum:

Name: Creatine Phosphokinase, Elevated Serum 56 13 54
Hyperckemia, Idiopathic 56
Cpk, Elevated Serum 56
Hyperckmia 73
Hypck 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
creatine phosphokinase, elevated serum:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Creatine Phosphokinase, Elevated Serum

UniProtKB/Swiss-Prot : 73 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 elevated serum creatine phosphokinase levels and malignant hyperthermia. An important gene associated with Creatine Phosphokinase, Elevated Serum is CAV3 (Caveolin 3), and among its related pathways/superpathways is Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are fatigue and myalgia

More information 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 top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 isolated elevated serum creatine phosphokinase levels 31.4 TCAP LAMA2 GDAP1 GAA DMD CAV3
2 malignant hyperthermia 27.8 PIK3C2A MB LAMA2 DMD CHKB CAV3
3 autosomal recessive limb-girdle muscular dystrophy type 2x 10.3 CAV3 ANO5
4 muscular dystrophy, limb-girdle, autosomal dominant 3 10.3 CAV3 ANO5
5 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 DMD CAV3
6 cardiomyopathy, dilated, 3b 10.3 DMD CAV3
7 autosomal dominant limb-girdle muscular dystrophy 10.3 CAV3 ANO5
8 autosomal recessive limb-girdle muscular dystrophy type 2j 10.2 TCAP CAV3
9 pontocerebellar hypoplasia, type 8 10.2 LAMA2 CAV3
10 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 TCAP ANO5
11 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 TCAP DMD
12 muscular dystrophy-dystroglycanopathy , type a, 1 10.2 LAMA2 DMD
13 myopathy of extraocular muscle 10.2 LAMA2 DMD
14 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 TCAP DMD
15 reducing body myopathy 10.1 TCAP DMD
16 muscular dystrophy, congenital merosin-deficient, 1a 10.1 LAMA2 DMD
17 myopathy, myofibrillar, 3 10.1 TCAP CAV3
18 glycogen storage disease ii 10.1 GAA DMD CAV3
19 glycogen storage disease iii 10.1 PIK3C2A GAA
20 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TCAP CAV3 ANO5
21 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 TCAP CAV3 ANO5
22 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 TCAP CAV3 ANO5
23 muscular dystrophy, limb-girdle, autosomal dominant 2 10.1 TCAP CAV3 ANO5
24 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 TCAP CAV3 ANO5
25 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 DMD CAV3
26 tibial muscular dystrophy 10.0 TCAP DMD ANO5
27 rigid spine muscular dystrophy 1 10.0 LAMA2 GAA DMD
28 intrinsic cardiomyopathy 10.0 TCAP DMD CAV3
29 walker-warburg syndrome 10.0 LAMA2 DMD CAV3
30 muscular dystrophy, congenital, megaconial type 10.0 LAMA2 CHKB
31 facioscapulohumeral muscular dystrophy 1 10.0 LAMA2 GAA DMD
32 muscular dystrophy-dystroglycanopathy , type a, 4 10.0 LAMA2 DMD
33 progressive muscular dystrophy 9.9 MB DMD
34 hypertrophic cardiomyopathy 9.9 TCAP DMD CAV3
35 bethlem myopathy 1 9.9 LAMA2 DMD CAV3 ANO5
36 myopathy, congenital 9.8 GAA DMD CHKB
37 familial isolated dilated cardiomyopathy 9.8 TCAP DMD
38 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 TCAP DMD CAV3 ANO5
39 myofibrillar myopathy 9.8 TCAP DMD CAV3 ANO5
40 virus associated hemophagocytic syndrome 9.8 PIK3C2A MB
41 myositis fibrosa 9.8 PIK3C2A MB
42 anterior compartment syndrome 9.8 PIK3C2A MB
43 posterior myocardial infarction 9.8 PIK3C2A MB
44 emery-dreifuss muscular dystrophy 9.8 LAMA2 DMD CHKB
45 anteroseptal myocardial infarction 9.8 PIK3C2A MB
46 pyomyositis 9.8 PIK3C2A MB
47 atrial standstill 1 9.8 TCAP GAA DMD CAV3
48 brugada syndrome 9.8 TCAP DMD CAV3
49 long qt syndrome 9.8 TCAP GAA DMD CAV3
50 acute mountain sickness 9.7 PIK3C2A MB

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

Human phenotypes related to Creatine Phosphokinase, Elevated Serum:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 fatigue 31 HP:0012378
2 myalgia 31 HP:0003326
3 emg: myopathic abnormalities 31 HP:0003458
4 mitochondrial myopathy 31 HP:0003737
5 muscular dystrophy 31 HP:0003560
6 inflammatory myopathy 31 HP:0009071
7 increased muscle fatiguability 31 HP:0003750
8 exercise-induced muscle cramps 31 HP:0003710
9 muscle spasm 31 HP:0003394
10 elevated serum creatine kinase 31 HP:0003236
11 abnormal muscle fiber morphology 31 HP:0004303

Symptoms via clinical synopsis from OMIM:

56
Lab:
elevated serum cpk
normal muscle biopsy
normal exercise lactic acid production

Muscle:
muscle cramps with exertion

Clinical features from OMIM:

123320

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CAV3 CHKB GAA HMGCR PIK3C2A

MGI Mouse Phenotypes related to Creatine Phosphokinase, Elevated Serum:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 ANO5 CAV3 DMD GAA GDAP1 LAMA2
2 cardiovascular system MP:0005385 9.8 CAV3 DMD GAA GDAP1 MB PIK3C2A
3 homeostasis/metabolism MP:0005376 9.7 ANO5 CAV3 CHKB DMD GAA GDAP1
4 muscle MP:0005369 9.23 ANO5 CAV3 CHKB DMD GAA LAMA2

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

Anatomical Context for Creatine Phosphokinase, Elevated Serum

MalaCards organs/tissues related to Creatine Phosphokinase, Elevated Serum:

40
Heart, Skeletal Muscle, Testes, Kidney

Publications for Creatine Phosphokinase, Elevated Serum

Articles related to Creatine Phosphokinase, Elevated Serum:

(show all 40)
# Title Authors PMID Year
1
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 54 56 6
10746614 2000
2
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
3
Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia. 56
19704085 2009
4
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 6
18930476 2009
5
Caveolinopathies 6
20301559 2007
6
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
7
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 6
14663034 2003
8
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 6
12939441 2003
9
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. 6
12082049 2002
10
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 6
11805270 2002
11
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 6
11756609 2001
12
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 6
11431690 2001
13
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. 6
11001938 2000
14
Phenotypic variability in rippling muscle disease. 6
10227634 1999
15
Idiopathic hyperCKemia revisited. 56
9660505 1998
16
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. 56
8533818 1995
17
Idiopathic hyperCKemia. 56
6538316 1984
18
Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure. 56
7189025 1980
19
Genetic control of human plasma creatine phosphokinase activity. 56
566176 1978
20
A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen. 6
1146501 1975
21
Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy. 56
5422556 1970
22
Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis. 61
24207015 2013
23
Neuroleptic malignant syndrome: a review and report of six cases. 54
17214072 2006
24
Familial idiopathic hyper-CK-emia: an underrecognized condition. 54
16502425 2006
25
[Fluvastatin-induced dermatomyositis]. 54
16446645 2005
26
[Chronic GVHD with polymyositis after non-myeloablative stem cell transplantation]. 54
16440806 2005
27
[Second degree atrioventricular block in mixed connective tissue disease]. 54
15925432 2005
28
Elevated serum creatine phosphokinase in choline-deficient humans: mechanistic studies in C2C12 mouse myoblasts. 54
15213044 2004
29
Daptomycin: the first approved lipopeptide antimicrobial. 54
16553491 2004
30
Rosuvastatin: a review of its use in the management of dyslipidemia. 54
15049723 2004
31
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels. 54
11993531 2002
32
Normalization of creatine kinase level during pregnancy in idiopathic hyperCKemia. 54
11532557 2001
33
Malignant hyperthermia in a patient with Graves' disease during subtotal thyroidectomy. 54
11456272 2001
34
The utility of maternal creatine kinase in the evaluation of ectopic pregnancy. 54
11043625 2000
35
King syndrome: further clinical variability and review of the literature. 54
9677061 1998
36
Malignant hyperthermia testing in patients with persistently increased serum creatine kinase levels. 54
9141928 1997
37
[A water intoxication patient who showed remarkable ST depression and suspected ischemic heart disease]. 54
1529180 1992
38
[Correlation of creatine phosphokinase blood level with prenatal fetal heart rate as a prognostic factor in tissue hypoxia]. 54
1398197 1992
39
Report of a case of Crohn's disease associated with hyper-creatine phosphokinase-emia. 54
1803046 1991
40
[Investigation of etiologies for acute renal failure due to rhabdomyolysis in 5 patients]. 54
2127950 1990

Variations for Creatine Phosphokinase, Elevated Serum

ClinVar genetic disease variations for Creatine Phosphokinase, Elevated Serum:

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.86C>T (p.Pro29Leu)SNV Pathogenic 8287 rs116840786 3:8775648-8775648 3:8733962-8733962
3 CAV3 NM_033337.2(CAV3):c.136G>A (p.Ala46Thr)SNV Pathogenic 8281 rs116840789 3:8787233-8787233 3:8745547-8745547
4 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln)SNV Pathogenic 8283 rs116840778 3:8775642-8775642 3:8733956-8733956
5 ASTN2 , TRIM32 NM_012210.3(TRIM32):c.1361_1362TA[4] (p.Thr456fs)short repeat Pathogenic 291311 rs886044913 9:119461381-119461382 9:116699102-116699103
6 DMD NM_000109.4(DMD):c.6115C>T (p.Gln2039Ter)SNV Pathogenic 369655 rs1057516028 X:32305797-32305797 X:32287680-32287680
7 TCAP NM_003673.3(TCAP):c.90_91del (p.Ser31fs)deletion Pathogenic 446463 rs1555606976 17:37821701-37821702 17:39665448-39665449
8 DMD NM_004006.2(DMD):c.93+1G>CSNV Pathogenic 523470 rs886042604 X:33038255-33038255 X:33020138-33020138
9 subset of 18 genes: HNF1B GRCh37/hg19 17q12(chr17:34611352-36248918)copy number gain Pathogenic 523265 17:34611352-36248918
10 GAA NM_000152.5(GAA):c.4G>T (p.Gly2Ter)SNV Pathogenic 560377 rs1567825175 17:78078389-78078389 17:80104590-80104590
11 CAPN3 , SGCB NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
12 LAMA2 NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter)SNV Pathogenic 92980 rs398123383 6:129781432-129781432 6:129460287-129460287
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_000109.4(DMD):c.10187del (p.Asp3396fs)deletion Likely pathogenic 427762 rs1114167437 X:31196798-31196798 X:31178681-31178681
15 DMD NM_000109.4(DMD):c.4047+1deldeletion Likely pathogenic 427765 rs1114167439 X:32456357-32456357 X:32438240-32438240
16 ANO5 NM_213599.2(ANO5):c.758A>C (p.His253Pro)SNV Likely pathogenic 291313 rs886044915 11:22257818-22257818 11:22236272-22236272
17 DMD NM_000109.4(DMD):c.9503A>G (p.Asp3168Gly)SNV Likely pathogenic 291316 rs886044916 X:31227651-31227651 X:31209534-31209534
18 DMD NM_004013.2(DMD):c.-62dupduplication Likely pathogenic 523469 rs1556880327 X:31792299-31792300 X:31774182-31774183
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 GMPPB NM_013334.3(GMPPB):c.358A>G (p.Met120Val)SNV Likely pathogenic 560362 rs1559697515 3:49760449-49760449 3:49723016-49723016
21 PKD1 NM_001009944.3(PKD1):c.7567_7569GAG[1] (p.Glu2524del)short repeat Likely pathogenic 523389 rs1555452876 16:2156223-2156225 16:2106222-2106224
22 DMD NM_000109.4(DMD):c.626-39498A>GSNV Likely pathogenic 446469 rs1556980528 X:32756908-32756908 X:32738791-32738791
23 ANO5 NM_213599.2(ANO5):c.364-2A>GSNV Likely pathogenic 446472 rs776474397 11:22248846-22248846 11:22227300-22227300
24 LAMA2 NM_000426.3(LAMA2):c.2450+16A>GSNV Conflicting interpretations of pathogenicity 507122 rs1024374408 6:129591912-129591912 6:129270767-129270767
25 OPA1 NM_130837.2(OPA1):c.113_130del (p.Arg38_Ser43del)deletion Conflicting interpretations of pathogenicity 214916 rs863224140 3:193332587-193332604 3:193614798-193614815
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 CAPN3 NM_000070.3(CAPN3):c.1746-20C>GSNV Conflicting interpretations of pathogenicity 92408 rs201892814 15:42695919-42695919 15:42403721-42403721
28 ANO5 NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile)SNV Conflicting interpretations of pathogenicity 286450 rs375014127 11:22283708-22283708 11:22262162-22262162
29 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr)SNV Uncertain significance 288112 rs773309037 3:8787497-8787497 3:8745811-8745811
30 RYR1 NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys)SNV Uncertain significance 224400 rs138593495 19:39027398-39027398 19:38536758-38536758
31 CAV3 NM_001234.5(CAV3):c.290_292del (p.Phe97del)deletion Uncertain significance 8286 rs199476335 3:8787385-8787387 3:8745699-8745701
32 RYR1 NM_000540.2(RYR1):c.5000G>A (p.Arg1667His)SNV Uncertain significance 373680 rs138978909 19:38976295-38976295 19:38485655-38485655
33 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser)SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535
34 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln)SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886
35 ANO5 NM_213599.2(ANO5):c.1965G>C (p.Trp655Cys)SNV Uncertain significance 523571 rs760137559 11:22291924-22291924 11:22270378-22270378
36 RYR1 NM_000540.2(RYR1):c.1264G>A (p.Gly422Arg)SNV Uncertain significance 523377 rs757157750 19:38943478-38943478 19:38452838-38452838

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

73
# 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

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 9.9 LAMA2 DMD

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 vesicle GO:0031982 9.43 PIK3C2A CAV3 ANO5
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 Creatine Phosphokinase, Elevated Serum according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 tissue development GO:0009888 9.49 LAMA2 GAA
2 negative regulation of MAP kinase activity GO:0043407 9.48 HMGCR CAV3
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 9.37 DMD CAV3
7 cardiac muscle contraction GO:0060048 9.33 TCAP GAA DMD
8 detection of muscle stretch GO:0035995 9.32 TCAP CAV3
9 regulation of skeletal muscle contraction GO:0014819 9.26 DMD CAV3
10 muscle cell cellular homeostasis GO:0046716 9.13 GAA DMD CAV3
11 muscle organ development GO:0007517 8.92 LAMA2 DMD CHKB CAV3

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 TCAP DMD
2 nitric-oxide synthase binding GO:0050998 8.62 DMD CAV3

Sources for Creatine Phosphokinase, Elevated Serum

3 CDC
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17 EFO
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