HYPCK
MCID: CRT045
MIFTS: 32

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 58 13 56
Hyperckemia, Idiopathic 58
Cpk, Elevated Serum 58
Hyperckmia 76
Hypck 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
creatine phosphokinase, elevated serum:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Creatine Phosphokinase, Elevated Serum

UniProtKB/Swiss-Prot : 76 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. Related phenotypes are fatigue and emg: myopathic abnormalities

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 top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 isolated hyperckemia 31.6 ANO5 CAV3 DMD GAA GDAP1 LAMA2
2 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 CAV3 DMD
3 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 DMD TCAP
4 cardiomyopathy, dilated, 1b 10.3 DMD LAMA2
5 glycogen storage disease ii 10.3 DMD GAA
6 muscular dystrophy, congenital, 1b 10.3 DMD LAMA2
7 muscular dystrophy, congenital merosin-deficient, 1a 10.3 DMD LAMA2
8 cardiomyopathy, dilated, 1d 10.2 DMD LAMA2
9 muscular dystrophy-dystroglycanopathy , type a, 1 10.2 DMD LAMA2
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 LAMA2 TCAP
11 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 DMD TCAP
12 cardiomyopathy, dilated, 1a 10.2 DMD LAMA2
13 muscular dystrophy-dystroglycanopathy , type a, 4 10.2 DMD LAMA2
14 muscular dystrophy-dystroglycanopathy , type b, 6 10.2 DMD LAMA2
15 muscle disorders 10.2 CAV3 PIK3C2A
16 chromosome xp21 deletion syndrome 10.2 DMD PIK3C2A
17 familial isolated dilated cardiomyopathy 10.1 DMD TCAP
18 muscular dystrophy-dystroglycanopathy , type b, 5 10.1 CAV3 DMD LAMA2
19 myopathy, x-linked, with excessive autophagy 10.1 DMD GAA LAMA2
20 rigid spine muscular dystrophy 1 10.1 DMD GAA LAMA2
21 glycogen storage disease iii 10.1 GAA PIK3C2A
22 neuromuscular disease 10.1 DMD GAA LAMA2
23 muscular dystrophy, congenital, megaconial type 10.1 CHKB LAMA2
24 facioscapulohumeral muscular dystrophy 1 10.1 DMD GAA
25 muscular dystrophy, limb-girdle, autosomal recessive 2 10.0 CAV3 TCAP
26 respiratory failure 10.0 GAA LAMA2 PIK3C2A
27 muscular dystrophy, becker type 10.0 DMD LAMA2 PIK3C2A
28 muscular dystrophy, congenital, lmna-related 9.9 CHKB DMD LAMA2
29 virus associated hemophagocytic syndrome 9.9 MB PIK3C2A
30 interstitial myocarditis 9.9 MB PIK3C2A
31 autosomal recessive limb-girdle muscular dystrophy 9.9 ANO5 CAV3 DMD TCAP
32 pericardial effusion 9.9 CHKB PIK3C2A
33 posterior myocardial infarction 9.9 MB PIK3C2A
34 myositis fibrosa 9.9 MB PIK3C2A
35 miyoshi muscular dystrophy 9.9 ANO5 CAV3 DMD LAMA2
36 anuria 9.9 MB PIK3C2A
37 plexopathy 9.9 MB PIK3C2A
38 intermediate coronary syndrome 9.8 MB PIK3C2A
39 pseudohyperkalemia, familial, 2, due to red cell leak 9.8 MB PIK3C2A
40 acute mountain sickness 9.8 MB PIK3C2A
41 malignant hyperthermia 9.8 MB PIK3C2A
42 gas gangrene 9.7 DMD MB PIK3C2A
43 myoglobinuria 9.7 MB PIK3C2A
44 acute kidney failure 9.7 MB PIK3C2A
45 glycogen storage disease v 9.7 CHKB GAA MB
46 limb-girdle muscular dystrophy 9.7 ANO5 CAV3 DMD LAMA2 TCAP
47 coronary artery anomaly 9.6 HMGCR MB PIK3C2A
48 neuroleptic malignant syndrome 9.6 CHKB MB PIK3C2A
49 compartment syndrome 9.6 CHKB MB PIK3C2A
50 acute myocardial infarction 9.5 CHKB 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

Human phenotypes related to Creatine Phosphokinase, Elevated Serum:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 fatigue 33 HP:0012378
2 emg: myopathic abnormalities 33 HP:0003458
3 myalgia 33 HP:0003326
4 mitochondrial myopathy 33 HP:0003737
5 abnormality of muscle fibers 33 HP:0004303
6 muscular dystrophy 33 HP:0003560
7 inflammatory myopathy 33 HP:0009071
8 increased muscle fatiguability 33 HP:0003750
9 elevated serum creatine kinase 33 HP:0003236
10 muscle spasm 33 HP:0003394
11 exercise-induced muscle cramps 33 HP:0003710

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47
# 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

Publications for Creatine Phosphokinase, Elevated Serum

Variations for Creatine Phosphokinase, Elevated Serum

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

76
# 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 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh38 Chromosome 3, 193614803: 193614820
2 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh37 Chromosome 3, 193332592: 193332609
3 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
4 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
5 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
6 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh38 Chromosome 3, 8745547: 8745547
7 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
8 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
9 CAV3 NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del) deletion Uncertain significance rs199476335 GRCh37 Chromosome 3, 8787387: 8787389
10 CAV3 NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del) deletion Uncertain significance rs199476335 GRCh38 Chromosome 3, 8745701: 8745703
11 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh37 Chromosome 3, 8775648: 8775648
12 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh38 Chromosome 3, 8733962: 8733962
13 CAPN3; SGCB NM_000070.3(CAPN3): c.549delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
14 CAPN3; SGCB NM_000070.3(CAPN3): c.549delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
15 RYR1 NM_000540.2(RYR1): c.11599C> T (p.Arg3867Cys) single nucleotide variant Uncertain significance rs138593495 GRCh37 Chromosome 19, 39027398: 39027398
16 RYR1 NM_000540.2(RYR1): c.11599C> T (p.Arg3867Cys) single nucleotide variant Uncertain significance rs138593495 GRCh38 Chromosome 19, 38536758: 38536758
17 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 GRCh37 Chromosome 11, 22283708: 22283708
18 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 GRCh38 Chromosome 11, 22262162: 22262162
19 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dup (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh37 Chromosome 9, 119461386: 119461387
20 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dup (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh38 Chromosome 9, 116699107: 116699108
21 ANO5 NM_213599.2(ANO5): c.758A> C (p.His253Pro) single nucleotide variant Likely pathogenic rs886044915 GRCh38 Chromosome 11, 22236272: 22236272
22 ANO5 NM_213599.2(ANO5): c.758A> C (p.His253Pro) single nucleotide variant Likely pathogenic rs886044915 GRCh37 Chromosome 11, 22257818: 22257818
23 DMD NM_004006.2(DMD): c.9527A> G (p.Asp3176Gly) single nucleotide variant Likely pathogenic rs886044916 GRCh37 Chromosome X, 31227651: 31227651
24 DMD NM_004006.2(DMD): c.9527A> G (p.Asp3176Gly) single nucleotide variant Likely pathogenic rs886044916 GRCh38 Chromosome X, 31209534: 31209534
25 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh37 Chromosome X, 32305797: 32305797
26 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh38 Chromosome X, 32287680: 32287680
27 RYR1 NM_000540.2(RYR1): c.5000G> A (p.Arg1667His) single nucleotide variant Uncertain significance rs138978909 GRCh37 Chromosome 19, 38976295: 38976295
28 RYR1 NM_000540.2(RYR1): c.5000G> A (p.Arg1667His) single nucleotide variant Uncertain significance rs138978909 GRCh38 Chromosome 19, 38485655: 38485655
29 DMD NM_004006.2(DMD): c.10211delA (p.Asp3404Alafs) deletion Likely pathogenic rs1114167437 GRCh38 Chromosome X, 31178681: 31178681
30 DMD NM_004006.2(DMD): c.10211delA (p.Asp3404Alafs) deletion Likely pathogenic rs1114167437 GRCh37 Chromosome X, 31196798: 31196798
31 DMD NM_004006.2(DMD): c.4071+1delG deletion Likely pathogenic rs1114167439 GRCh38 Chromosome X, 32438240: 32438240
32 DMD NM_004006.2(DMD): c.4071+1delG deletion Likely pathogenic rs1114167439 GRCh37 Chromosome X, 32456358: 32456358
33 TCAP NM_003673.3(TCAP): c.90_91delGT (p.Ser31Hisfs) deletion Pathogenic rs1555606976 GRCh38 Chromosome 17, 39665449: 39665450
34 TCAP NM_003673.3(TCAP): c.90_91delGT (p.Ser31Hisfs) deletion Pathogenic rs1555606976 GRCh37 Chromosome 17, 37821702: 37821703
35 DMD NM_004006.2(DMD): c.650-39498A> G single nucleotide variant Likely pathogenic rs1556980528 GRCh37 Chromosome X, 32756908: 32756908
36 DMD NM_004006.2(DMD): c.650-39498A> G single nucleotide variant Likely pathogenic rs1556980528 GRCh38 Chromosome X, 32738791: 32738791
37 ANO5 NM_213599.2(ANO5): c.364-2A> G single nucleotide variant Likely pathogenic rs776474397 GRCh38 Chromosome 11, 22227300: 22227300
38 ANO5 NM_213599.2(ANO5): c.364-2A> G single nucleotide variant Likely pathogenic rs776474397 GRCh37 Chromosome 11, 22248846: 22248846
39 ANO5 NM_213599.2(ANO5): c.1965G> C (p.Trp655Cys) single nucleotide variant Uncertain significance rs760137559 GRCh38 Chromosome 11, 22270378: 22270378
40 ANO5 NM_213599.2(ANO5): c.1965G> C (p.Trp655Cys) single nucleotide variant Uncertain significance rs760137559 GRCh37 Chromosome 11, 22291924: 22291924
41 PKD1 NM_001009944.2(PKD1): c.7570_7572delGAG (p.Glu2524del) deletion Likely pathogenic rs1555452876 GRCh38 Chromosome 16, 2106222: 2106224
42 PKD1 NM_001009944.2(PKD1): c.7570_7572delGAG (p.Glu2524del) deletion Likely pathogenic rs1555452876 GRCh37 Chromosome 16, 2156223: 2156225
43 RYR1 NM_000540.2(RYR1): c.1264G> A (p.Gly422Arg) single nucleotide variant Uncertain significance rs757157750 GRCh37 Chromosome 19, 38943478: 38943478
44 RYR1 NM_000540.2(RYR1): c.1264G> A (p.Gly422Arg) single nucleotide variant Uncertain significance rs757157750 GRCh38 Chromosome 19, 38452838: 38452838
45 DMD NM_004006.2(DMD): c.7319dup (p.Thr2441Aspfs) duplication Likely pathogenic rs1556880327 GRCh37 Chromosome X, 31792300: 31792300
46 DMD NM_004006.2(DMD): c.7319dup (p.Thr2441Aspfs) duplication Likely pathogenic rs1556880327 GRCh38 Chromosome X, 31774183: 31774183
47 DMD NM_004006.2(DMD): c.93+1G> C single nucleotide variant Pathogenic rs886042604 GRCh38 Chromosome X, 33020138: 33020138
48 DMD NM_004006.2(DMD): c.93+1G> C single nucleotide variant Pathogenic rs886042604 GRCh37 Chromosome X, 33038255: 33038255
49 subset of 18 genes:HNF1B GRCh37/hg19 17q12(chr17: 34611352-36248918) copy number gain Pathogenic GRCh37 Chromosome 17, 34611352: 36248918
50 GMPPB NM_013334.3(GMPPB): c.358A> G (p.Met120Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 49760449: 49760449

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 DMD LAMA2

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 ANO5 CAV3 PIK3C2A
2 dystrophin-associated glycoprotein complex GO:0016010 9.16 CAV3 DMD
3 Z disc GO:0030018 9.13 CAV3 DMD TCAP
4 sarcolemma GO:0042383 8.8 CAV3 DMD LAMA2

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 CAV3 DMD LAMA2
2 negative regulation of MAP kinase activity GO:0043407 9.48 CAV3 HMGCR
3 muscle filament sliding GO:0030049 9.46 DMD TCAP
4 regulation of heart rate GO:0002027 9.43 CAV3 DMD
5 response to muscle stretch GO:0035994 9.4 DMD TCAP
6 nucleus localization GO:0051647 9.32 CAV3 DMD
7 detection of muscle stretch GO:0035995 9.26 CAV3 TCAP
8 regulation of skeletal muscle contraction GO:0014819 9.16 CAV3 DMD
9 cardiac muscle contraction GO:0060048 9.13 DMD GAA TCAP
10 muscle cell cellular homeostasis GO:0046716 8.8 CAV3 DMD GAA

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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