HYPCK
MCID: CRT045
MIFTS: 37

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 57 13 55
Hyperckemia, Idiopathic 57
Cpk, Elevated Serum 57
Hyperckmia 74
Hypck 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
creatine phosphokinase, elevated serum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 123320
MedGen 42 C0241005

Summaries for Creatine Phosphokinase, Elevated Serum

UniProtKB/Swiss-Prot : 74 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 autosomal recessive limb-girdle muscular dystrophy type 2b. 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 56)
# Related Disease Score Top Affiliating Genes
1 isolated hyperckemia 31.1 TCAP LAMA2 GDAP1 GAA DMD CAV3
2 autosomal recessive limb-girdle muscular dystrophy type 2b 10.5 DMD CAV3
3 cardiomyopathy, dilated, 1b 10.4 LAMA2 DMD
4 muscular dystrophy, congenital, 1b 10.4 LAMA2 DMD
5 glycogen storage disease ii 10.4 GAA DMD
6 muscular dystrophy, congenital merosin-deficient, 1a 10.4 LAMA2 DMD
7 cardiomyopathy, dilated, 1d 10.4 LAMA2 DMD
8 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 TCAP DMD
9 muscular dystrophy-dystroglycanopathy , type a, 1 10.4 LAMA2 DMD
10 cardiomyopathy, dilated, 1a 10.3 LAMA2 DMD
11 muscular dystrophy-dystroglycanopathy , type b, 6 10.3 LAMA2 DMD
12 chromosome xp21 deletion syndrome 10.3 PIK3C2A DMD
13 muscular dystrophy-dystroglycanopathy , type a, 4 10.3 LAMA2 DMD
14 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 TCAP DMD
15 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 TCAP LAMA2
16 muscular dystrophy-dystroglycanopathy , type b, 5 10.2 LAMA2 DMD CAV3
17 familial isolated dilated cardiomyopathy 10.2 TCAP DMD
18 myopathy, x-linked, with excessive autophagy 10.1 LAMA2 GAA DMD
19 rigid spine muscular dystrophy 1 10.1 LAMA2 GAA DMD
20 glycogen storage disease iii 10.1 PIK3C2A GAA
21 muscular dystrophy, congenital, megaconial type 10.1 LAMA2 CHKB
22 neuromuscular disease 10.1 LAMA2 GAA DMD
23 facioscapulohumeral muscular dystrophy 1 10.1 GAA DMD
24 muscular dystrophy, becker type 10.0 PIK3C2A LAMA2 DMD
25 muscular dystrophy, limb-girdle, autosomal recessive 2 9.9 TCAP CAV3
26 respiratory failure 9.9 PIK3C2A LAMA2 GAA
27 miyoshi muscular dystrophy 9.9 LAMA2 DMD CAV3 ANO5
28 autosomal recessive limb-girdle muscular dystrophy 9.9 TCAP DMD CAV3 ANO5
29 virus associated hemophagocytic syndrome 9.9 PIK3C2A MB
30 muscular dystrophy, congenital, lmna-related 9.9 LAMA2 DMD CHKB
31 interstitial myocarditis 9.9 PIK3C2A MB
32 posterior myocardial infarction 9.8 PIK3C2A MB
33 myositis fibrosa 9.8 PIK3C2A MB
34 anuria 9.8 PIK3C2A MB
35 pericardial effusion 9.8 PIK3C2A CHKB
36 plexopathy 9.8 PIK3C2A MB
37 intermediate coronary syndrome 9.8 PIK3C2A MB
38 acute mountain sickness 9.7 PIK3C2A MB
39 pseudohyperkalemia, familial, 2, due to red cell leak 9.7 PIK3C2A MB
40 malignant hyperthermia 9.7 PIK3C2A MB
41 gas gangrene 9.6 PIK3C2A MB DMD
42 myoglobinuria 9.6 PIK3C2A MB
43 acute kidney failure 9.5 PIK3C2A MB
44 limb-girdle muscular dystrophy 9.5 TCAP LAMA2 DMD CAV3 ANO5
45 glycogen storage disease v 9.5 MB GAA CHKB
46 coronary artery anomaly 9.4 PIK3C2A MB HMGCR
47 compartment syndrome 9.3 PIK3C2A MB CHKB
48 neuroleptic malignant syndrome 9.3 PIK3C2A MB CHKB
49 acute myocardial infarction 9.3 PIK3C2A MB CHKB
50 disseminated intravascular coagulation 9.2 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 fatigue 32 HP:0012378
2 myalgia 32 HP:0003326
3 emg: myopathic abnormalities 32 HP:0003458
4 mitochondrial myopathy 32 HP:0003737
5 muscular dystrophy 32 HP:0003560
6 inflammatory myopathy 32 HP:0009071
7 increased muscle fatiguability 32 HP:0003750
8 exercise-induced muscle cramps 32 HP:0003710
9 muscle spasm 32 HP:0003394
10 elevated serum creatine kinase 32 HP:0003236
11 abnormal muscle fiber morphology 32 HP:0004303

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 ANO5 CAV3 DMD GAA GDAP1 LAMA2
2 behavior/neurological MP:0005386 9.8 ANO5 CHKB DMD GAA GDAP1 LAMA2
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:

41
Heart, Skeletal Muscle, Testes

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

Variations for Creatine Phosphokinase, Elevated Serum

ClinVar genetic disease variations for Creatine Phosphokinase, Elevated Serum:

6 (show all 35)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 X:32305797-32305797 X:32287680-32287680
2 TCAP NM_003673.3(TCAP): c.90_91del (p.Ser31fs) deletion Pathogenic rs1555606976 17:37821701-37821702 17:39665449-39665450
3 DMD NM_004006.2(DMD): c.93+1G> C single nucleotide variant Pathogenic rs886042604 X:33038255-33038255 X:33020138-33020138
4 subset of 18 genes:HNF1B GRCh37/hg19 17q12(chr17: 34611352-36248918) copy number gain Pathogenic 17:34611352-36248918 :0-0
5 GAA NM_000152.5(GAA): c.4G> T (p.Gly2Ter) single nucleotide variant Pathogenic 17:78078389-78078389 17:80104590-80104590
6 GDAP1 NM_018972.4(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 8:75276240-75276240 8:74364005-74364005
7 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 3:8775648-8775648 3:8733962-8733962
8 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 3:8787233-8787233 3:8745547-8745547
9 CAV3 ; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 3:8775642-8775642 3:8733956-8733956
10 ASTN2 ; TRIM32 NM_012210.3(TRIM32): c.1361_1362TA[4] (p.Thr456fs) short repeat Pathogenic rs886044913 9:119461386-119461387 9:116699107-116699108
11 CAPN3 ; SGCB NM_000070.3(CAPN3): c.550del (p.Thr184fs) deletion Pathogenic rs80338800 15:42680002-42680002 15:42387804-42387804
12 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123383 6:129781432-129781432 6:129460287-129460287
13 ANO5 NM_213599.2(ANO5): c.191dup (p.Asn64fs) duplication Pathogenic/Likely pathogenic rs137854521 11:22242653-22242653 11:22221107-22221107
14 GMPPB NM_013334.3(GMPPB): c.358A> G (p.Met120Val) single nucleotide variant Likely pathogenic 3:49760449-49760449 3:49723016-49723016
15 PKD1 NM_001009944.3(PKD1): c.7567_7569GAG[1] (p.Glu2524del) short repeat Likely pathogenic rs1555452876 16:2156223-2156225 16:2106222-2106224
16 DMD NM_004006.2(DMD): c.650-39498A> G single nucleotide variant Likely pathogenic rs1556980528 X:32756908-32756908 X:32738791-32738791
17 ANO5 NM_213599.2(ANO5): c.364-2A> G single nucleotide variant Likely pathogenic rs776474397 11:22248846-22248846 11:22227300-22227300
18 DMD NM_004006.2(DMD): c.10211del (p.Asp3404fs) deletion Likely pathogenic rs1114167437 X:31196798-31196798 X:31178681-31178681
19 DMD NM_004006.2(DMD): c.4071+1del deletion Likely pathogenic rs1114167439 X:32456358-32456358 X:32438240-32438240
20 DMD NM_004006.2(DMD): c.7319dup (p.Thr2441fs) duplication Likely pathogenic rs1556880327 X:31792300-31792300 X:31774183-31774183
21 ANO5 NM_213599.2(ANO5): c.758A> C (p.His253Pro) single nucleotide variant Likely pathogenic rs886044915 11:22257818-22257818 11:22236272-22236272
22 DMD NM_004006.2(DMD): c.9527A> G (p.Asp3176Gly) single nucleotide variant Likely pathogenic rs886044916 X:31227651-31227651 X:31209534-31209534
23 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 11:22283708-22283708 11:22262162-22262162
24 CAPN3 NM_000070.3(CAPN3): c.1746-20C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201892814 15:42695919-42695919 15:42403721-42403721
25 OPA1 NM_015560.2(OPA1): c.113_130del (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 3:193332592-193332609 3:193614803-193614820
26 LAMA2 NM_000426.3(LAMA2): c.2450+16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1024374408 6:129591912-129591912 6:129270767-129270767
27 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 3:8787313-8787313 3:8745627-8745627
28 RYR1 NM_000540.2(RYR1): c.1264G> A (p.Gly422Arg) single nucleotide variant Uncertain significance rs757157750 19:38943478-38943478 19:38452838-38452838
29 ANO5 NM_213599.2(ANO5): c.1965G> C (p.Trp655Cys) single nucleotide variant Uncertain significance rs760137559 11:22291924-22291924 11:22270378-22270378
30 RYR1 NM_000540.2(RYR1): c.5000G> A (p.Arg1667His) single nucleotide variant Uncertain significance rs138978909 19:38976295-38976295 19:38485655-38485655
31 RYR1 NM_000540.2(RYR1): c.11599C> T (p.Arg3867Cys) single nucleotide variant Uncertain significance rs138593495 19:39027398-39027398 19:38536758-38536758
32 CAV3 NM_033337.2(CAV3): c.400G> A (p.Ala134Thr) single nucleotide variant Uncertain significance rs773309037 3:8787497-8787497 3:8745811-8745811
33 CAV3 NM_033337.2(CAV3): c.290_292del (p.Phe97del) deletion Uncertain significance rs199476335 3:8787387-8787389 3:8745701-8745703
34 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance 15:28474681-28474681 15:28229535-28229535
35 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance 19:38943526-38943526 19:38452886-38452886

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

74
# 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:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.54 LAMA2 DMD CAV3
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 9.32 DMD CAV3
7 regulation of skeletal muscle contraction GO:0014819 9.26 DMD CAV3
8 detection of muscle stretch GO:0035995 9.16 TCAP 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 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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