Aliases & Classifications for Isolated Hyperckemia

MalaCards integrated aliases for Isolated Hyperckemia:

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

Summaries for Isolated Hyperckemia

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.

MalaCards based summary : Isolated Hyperckemia, also known as elevated serum creatine phosphokinase, is related to malignant hyperthermia and creatine phosphokinase, elevated serum. An important gene associated with Isolated Hyperckemia is CAV3 (Caveolin 3), and among its related pathways/superpathways are Degradation of the extracellular matrix and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Related phenotypes are behavior/neurological and cellular

Related Diseases for Isolated Hyperckemia

Diseases related to Isolated Hyperckemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 29.1 DMD LAMA2
2 creatine phosphokinase, elevated serum 28.2 ANO5 CAV3 DMD GDAP1 LAMA2 TCAP
3 limb-girdle muscular dystrophy 26.7 ANO5 CAPN3 CAV3 DMD FKRP TCAP
4 muscular dystrophy 25.9 ANO5 CAPN3 CAV3 DMD FKRP LAMA2
5 rippling muscle disease 2 11.1
6 autosomal recessive limb-girdle muscular dystrophy type 2h 10.5 CAPN3 FKRP
7 muscular dystrophy, limb-girdle, type 2j 10.5 CAPN3 FKRP
8 muscular dystrophy, limb-girdle, type 1c 10.5 CAV3 FKRP
9 muscular dystrophy, limb-girdle, type 2d 10.5 CAPN3 FKRP
10 autosomal dominant limb-girdle muscular dystrophy type 1c 10.5 CAV3 FKRP
11 muscular dystrophy, limb-girdle, type 1e 10.4 CAV3 FKRP
12 muscular dystrophy, limb-girdle, type 2l 10.3 ANO5 FKRP
13 muscular dystrophy, congenital, lmna-related 10.2 FKRP LAMA2
14 ullrich congenital muscular dystrophy 1 10.1 CAPN3 LAMA2
15 muscular dystrophy, limb-girdle, type 1a 10.1 CAPN3 CAV3 FKRP
16 muscular dystrophy, duchenne type 10.0
17 muscular dystrophy, limb-girdle, type 2h 9.9 CAPN3 FKRP TCAP
18 muscular dystrophy, limb-girdle, type 2g 9.9 CAPN3 FKRP TCAP
19 muscular dystrophy, limb-girdle, type 2c 9.9 CAPN3 DMD
20 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 ANO5 CAPN3 CAV3
21 cardiomyopathy, dilated, 1b 9.9 DMD LAMA2
22 muscular dystrophy, congenital merosin-deficient, 1a 9.8 DMD LAMA2
23 myopathy, x-linked, with excessive autophagy 9.8 DMD LAMA2
24 cardiomyopathy, dilated, 1d 9.8 DMD LAMA2
25 cardiomyopathy, dilated, 1a 9.7 DMD LAMA2
26 muscular dystrophy, becker type 9.7 DMD LAMA2
27 bethlem myopathy 1 9.7 CAPN3 DMD
28 rigid spine muscular dystrophy 1 9.6 DMD LAMA2
29 familial isolated dilated cardiomyopathy 9.6 DMD TCAP
30 polyglucosan body myopathy 1 with or without immunodeficiency 9.6 CAPN3 DMD FKRP
31 centronuclear myopathy 9.6 CAV3 DMD
32 muscular dystrophy, congenital, 1b 9.5 DMD FKRP LAMA2
33 muscular dystrophy-dystroglycanopathy , type b, 6 9.5 DMD FKRP LAMA2
34 muscular dystrophy-dystroglycanopathy , type a, 4 9.5 DMD FKRP LAMA2
35 muscle eye brain disease 9.5 DMD FKRP LAMA2
36 walker-warburg syndrome 9.5 DMD FKRP LAMA2
37 muscular dystrophy-dystroglycanopathy , type c, 5 9.4 CAPN3 FKRP LAMA2 TCAP
38 neuromuscular disease 9.3 DMD LAMA2
39 myositis 9.2 CAPN3 DMD
40 hypertrophic cardiomyopathy 9.1 CAV3 DMD TCAP
41 muscular dystrophy-dystroglycanopathy , type b, 5 9.0 CAV3 DMD FKRP LAMA2
42 muscular dystrophy, limb-girdle, type 2f 9.0 CAPN3 DMD FKRP TCAP
43 distal muscular dystrophy 8.9 ANO5 CAPN3 CAV3 DMD
44 dilated cardiomyopathy 8.8 DMD FKRP LAMA2 TCAP
45 muscular dystrophy, limb-girdle, type 2b 8.5 CAPN3 CAV3 DMD FKRP TCAP
46 autosomal recessive limb-girdle muscular dystrophy 8.4 ANO5 CAPN3 DMD FKRP TCAP
47 muscle tissue disease 8.0 ANO5 CAPN3 CAV3 DMD FKRP LAMA2
48 myopathy 7.4 ANO5 CAPN3 CAV3 DMD FKRP LAMA2

Graphical network of the top 20 diseases related to Isolated Hyperckemia:



Diseases related to Isolated Hyperckemia

Symptoms & Phenotypes for Isolated Hyperckemia

MGI Mouse Phenotypes related to Isolated Hyperckemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ANO5 DMD FKRP GDAP1 LAMA2 TCAP
2 cellular MP:0005384 9.7 ANO5 CAV3 DMD FKRP GDAP1 LAMA2
3 homeostasis/metabolism MP:0005376 9.56 ANO5 CAPN3 CAV3 DMD FKRP GDAP1
4 muscle MP:0005369 9.17 CAPN3 CAV3 DMD FKRP LAMA2 TCAP

Drugs & Therapeutics for Isolated Hyperckemia

Search Clinical Trials , NIH Clinical Center for Isolated Hyperckemia

Genetic Tests for Isolated Hyperckemia

Genetic tests related to Isolated Hyperckemia:

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

Anatomical Context for Isolated Hyperckemia

Publications for Isolated Hyperckemia

Articles related to Isolated Hyperckemia:

# Title Authors Year
1
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. ( 19820980 )
2010
2
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. ( 17702496 )
2007
3
Elevated serum creatine phosphokinase in choline-deficient humans: mechanistic studies in C2C12 mouse myoblasts. ( 15213044 )
2004
4
Muscle cramps and elevated serum creatine phosphokinase levels induced by beta-adrenoceptor blockers. ( 7621844 )
1995
5
Elevated serum creatine phosphokinase in subjects with McLeod syndrome. ( 7197431 )
1981

Variations for Isolated Hyperckemia

ClinVar genetic disease variations for Isolated Hyperckemia:

6
(show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
2 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
3 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
4 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
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 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
8 CAV3 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.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh37 Chromosome 3, 8775648: 8775648
10 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh38 Chromosome 3, 8733962: 8733962
11 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
12 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
13 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh37 Chromosome 6, 129781432: 129781432
14 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh38 Chromosome 6, 129460287: 129460287
15 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh38 Chromosome 3, 193614803: 193614820
16 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh37 Chromosome 3, 193332592: 193332609
17 RYR1 NM_000540.2(RYR1): c.11599C> T (p.Arg3867Cys) single nucleotide variant Uncertain significance rs138593495 GRCh37 Chromosome 19, 39027398: 39027398
18 RYR1 NM_000540.2(RYR1): c.11599C> T (p.Arg3867Cys) single nucleotide variant Uncertain significance rs138593495 GRCh38 Chromosome 19, 38536758: 38536758
19 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 GRCh37 Chromosome 11, 22283708: 22283708
20 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 GRCh38 Chromosome 11, 22262162: 22262162
21 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dupTA (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh37 Chromosome 9, 119461386: 119461387
22 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dupTA (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh38 Chromosome 9, 116699107: 116699108
23 ANO5 NM_213599.2(ANO5): c.758A> C (p.His253Pro) single nucleotide variant Likely pathogenic rs886044915 GRCh38 Chromosome 11, 22236272: 22236272
24 ANO5 NM_213599.2(ANO5): c.758A> C (p.His253Pro) single nucleotide variant Likely pathogenic rs886044915 GRCh37 Chromosome 11, 22257818: 22257818
25 DMD NM_004006.2(DMD): c.9527A> G (p.Asp3176Gly) single nucleotide variant Likely pathogenic rs886044916 GRCh37 Chromosome X, 31227651: 31227651
26 DMD NM_004006.2(DMD): c.9527A> G (p.Asp3176Gly) single nucleotide variant Likely pathogenic rs886044916 GRCh38 Chromosome X, 31209534: 31209534
27 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh37 Chromosome X, 32305797: 32305797
28 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh38 Chromosome X, 32287680: 32287680
29 RYR1 NM_000540.2(RYR1): c.5000G> A (p.Arg1667His) single nucleotide variant Uncertain significance rs138978909 GRCh37 Chromosome 19, 38976295: 38976295
30 RYR1 NM_000540.2(RYR1): c.5000G> A (p.Arg1667His) single nucleotide variant Uncertain significance rs138978909 GRCh38 Chromosome 19, 38485655: 38485655
31 DMD NM_004006.2(DMD): c.10211delA (p.Asp3404Alafs) deletion Likely pathogenic rs1114167437 GRCh38 Chromosome X, 31178681: 31178681
32 DMD NM_004006.2(DMD): c.10211delA (p.Asp3404Alafs) deletion Likely pathogenic rs1114167437 GRCh37 Chromosome X, 31196798: 31196798
33 DMD NM_004006.2(DMD): c.4071+1delG deletion Likely pathogenic rs1114167439 GRCh38 Chromosome X, 32438240: 32438240
34 TCAP NM_003673.3(TCAP): c.90_91delGT (p.Ser31Hisfs) deletion Pathogenic GRCh38 Chromosome 17, 39665449: 39665450
35 DMD NM_004006.2(DMD): c.650-39498A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 32756908: 32756908
36 DMD NM_004006.2(DMD): c.650-39498A> G single nucleotide variant Likely pathogenic 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 LAMA2 NM_000426.3(LAMA2): c.2450+16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1024374408 GRCh37 Chromosome 6, 129591912: 129591912
40 LAMA2 NM_000426.3(LAMA2): c.2450+16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1024374408 GRCh38 Chromosome 6, 129270767: 129270767
41 ANO5 NM_213599.2(ANO5): c.1965G> C (p.Trp655Cys) single nucleotide variant Uncertain significance rs760137559 GRCh38 Chromosome 11, 22270378: 22270378
42 ANO5 NM_213599.2(ANO5): c.1965G> C (p.Trp655Cys) single nucleotide variant Uncertain significance rs760137559 GRCh37 Chromosome 11, 22291924: 22291924
43 PKD1 NM_001009944.2(PKD1): c.7570_7572delGAG (p.Glu2524del) deletion Likely pathogenic GRCh38 Chromosome 16, 2106222: 2106224
44 PKD1 NM_001009944.2(PKD1): c.7570_7572delGAG (p.Glu2524del) deletion Likely pathogenic GRCh37 Chromosome 16, 2156223: 2156225
45 RYR1 NM_000540.2(RYR1): c.1264G> A (p.Gly422Arg) single nucleotide variant Uncertain significance rs757157750 GRCh37 Chromosome 19, 38943478: 38943478
46 RYR1 NM_000540.2(RYR1): c.1264G> A (p.Gly422Arg) single nucleotide variant Uncertain significance rs757157750 GRCh38 Chromosome 19, 38452838: 38452838
47 DMD NM_004006.2(DMD): c.7319dup (p.Thr2441Aspfs) duplication Likely pathogenic GRCh37 Chromosome X, 31792300: 31792300
48 DMD NM_004006.2(DMD): c.7319dup (p.Thr2441Aspfs) duplication Likely pathogenic GRCh38 Chromosome X, 31774183: 31774183
49 DMD NM_004006.2(DMD): c.93+1G> C single nucleotide variant Pathogenic rs886042604 GRCh38 Chromosome X, 33020138: 33020138
50 DMD NM_004006.2(DMD): c.93+1G> C single nucleotide variant Pathogenic rs886042604 GRCh37 Chromosome X, 33038255: 33038255

Expression for Isolated Hyperckemia

Search GEO for disease gene expression data for Isolated Hyperckemia.

Pathways for Isolated Hyperckemia

GO Terms for Isolated Hyperckemia

Cellular components related to Isolated Hyperckemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.46 CAPN3 CAV3 DMD TCAP
2 myofibril GO:0030016 9.32 CAPN3 DMD
3 T-tubule GO:0030315 9.26 CAPN3 CAV3
4 sarcolemma GO:0042383 9.26 CAV3 DMD FKRP LAMA2
5 dystrophin-associated glycoprotein complex GO:0016010 8.8 CAV3 DMD FKRP

Biological processes related to Isolated Hyperckemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.48 DMD TCAP
2 sarcomere organization GO:0045214 9.46 CAPN3 TCAP
3 muscle filament sliding GO:0030049 9.43 DMD TCAP
4 regulation of heart rate GO:0002027 9.4 CAV3 DMD
5 response to muscle stretch GO:0035994 9.37 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 muscle cell cellular homeostasis GO:0046716 9.13 CAPN3 CAV3 DMD
10 muscle organ development GO:0007517 8.92 CAPN3 CAV3 DMD LAMA2

Molecular functions related to Isolated Hyperckemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex scaffold activity GO:0032947 9.26 CAPN3 CAV3
2 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
3 titin binding GO:0031432 8.96 CAPN3 TCAP
4 structural constituent of muscle GO:0008307 8.8 CAPN3 DMD TCAP

Sources for Isolated Hyperckemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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