Aliases & Classifications for Isolated Hyperckemia

MalaCards integrated aliases for Isolated Hyperckemia:

Name: Isolated Hyperckemia 24
Idiopathic Persistent Elevation of Serum Creatine Kinase 24
Elevated Serum Creatine Phosphokinase 24
Idiopathic Hyperckemia 24
Elevated Serum Cpk 24
H-Ck 24

Summaries for Isolated Hyperckemia

Genetics Home Reference : 24 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 idiopathic persistent elevation of serum creatine kinase, is related to creatine phosphokinase, elevated serum and limb-girdle muscular dystrophy. An important gene associated with Isolated Hyperckemia is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Related phenotypes are cardiovascular system and cellular

Related Diseases for Isolated Hyperckemia

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 creatine phosphokinase, elevated serum 30.5 CAV3 DMD GDAP1 TCAP
2 limb-girdle muscular dystrophy 28.1 CAPN3 CAV3 DMD FKRP TCAP
3 muscular dystrophy 28.0 CAPN3 CAV3 DMD FKRP TCAP
4 rippling muscle disease 2 11.1
5 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 CAPN3 FKRP
6 muscular dystrophy, limb-girdle, type 2j 10.2 CAPN3 FKRP
7 muscular dystrophy, limb-girdle, type 2d 10.1 CAPN3 FKRP
8 muscular dystrophy, limb-girdle, type 1c 10.1 CAV3 FKRP
9 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 CAV3 FKRP
10 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAPN3 CAV3
11 muscular dystrophy, limb-girdle, type 1e 10.0 CAV3 FKRP
12 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 CAPN3 DMD
13 muscular dystrophy, limb-girdle, type 2c 9.9 CAPN3 DMD
14 muscular dystrophy, congenital, 1b 9.9 DMD FKRP
15 muscular dystrophy, limb-girdle, type 1a 9.8 CAPN3 CAV3 FKRP
16 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 DMD FKRP
17 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 DMD FKRP
18 bethlem myopathy 1 9.8 CAPN3 DMD
19 muscular dystrophy, limb-girdle, type 2h 9.8 CAPN3 FKRP TCAP
20 muscular dystrophy, limb-girdle, type 2g 9.8 CAPN3 FKRP TCAP
21 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 CAPN3 FKRP TCAP
22 muscle eye brain disease 9.7 DMD FKRP
23 myositis 9.7 CAPN3 DMD
24 familial isolated dilated cardiomyopathy 9.6 DMD TCAP
25 muscular dystrophy, duchenne type 9.6 CAV3 DMD
26 distal muscular dystrophy 9.5 CAPN3 CAV3 DMD
27 muscular dystrophy-dystroglycanopathy , type b, 5 9.5 CAV3 DMD FKRP
28 walker-warburg syndrome 9.4 DMD FKRP
29 muscle tissue disease 9.2 CAPN3 CAV3 DMD FKRP
30 muscular dystrophy, limb-girdle, type 2f 9.2 CAPN3 DMD FKRP TCAP
31 dilated cardiomyopathy 9.1 DMD FKRP TCAP
32 muscular dystrophy, limb-girdle, type 2b 8.8 CAPN3 CAV3 DMD FKRP TCAP
33 autosomal recessive limb-girdle muscular dystrophy 8.8 CAPN3 CAV3 DMD FKRP TCAP
34 muscular dystrophy, limb-girdle, type 2a 8.8 CAPN3 CAV3 DMD FKRP TCAP
35 myopathy 8.7 CAPN3 CAV3 DMD FKRP TCAP

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CAPN3 CAV3 DMD FKRP TCAP
2 cellular MP:0005384 9.55 CAV3 DMD FKRP GDAP1 TCAP
3 homeostasis/metabolism MP:0005376 9.43 CAV3 DMD FKRP GDAP1 TCAP CAPN3
4 muscle MP:0005369 9.02 CAPN3 CAV3 DMD FKRP TCAP

Drugs & Therapeutics for Isolated Hyperckemia

Search Clinical Trials , NIH Clinical Center for Isolated Hyperckemia

Genetic Tests for Isolated Hyperckemia

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

Variations for Isolated Hyperckemia

ClinVar genetic disease variations for Isolated Hyperckemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
2 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
3 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh37 Chromosome 3, 8775648: 8775648
4 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
5 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dupTA (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh38 Chromosome 9, 116699107: 116699108
6 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh37 Chromosome X, 32305797: 32305797
7 TCAP NM_003673.3(TCAP): c.90_91delGT (p.Ser31Hisfs) deletion Pathogenic GRCh38 Chromosome 17, 39665449: 39665450

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 protein complex GO:0043234 9.54 CAPN3 CAV3 DMD
2 sarcolemma GO:0042383 9.33 CAV3 DMD FKRP
3 myofibril GO:0030016 9.32 CAPN3 DMD
4 T-tubule GO:0030315 9.26 CAPN3 CAV3
5 Z disc GO:0030018 9.26 CAPN3 CAV3 DMD TCAP
6 dystrophin-associated glycoprotein complex GO:0016010 8.8 CAV3 DMD FKRP

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein complex assembly GO:0006461 9.51 CAPN3 TCAP
2 muscle organ development GO:0007517 9.5 CAPN3 CAV3 DMD
3 regulation of membrane potential GO:0042391 9.49 CAV3 DMD
4 cardiac muscle contraction GO:0060048 9.48 DMD TCAP
5 sarcomere organization GO:0045214 9.46 CAPN3 TCAP
6 muscle filament sliding GO:0030049 9.43 DMD TCAP
7 regulation of heart rate GO:0002027 9.4 CAV3 DMD
8 response to muscle stretch GO:0035994 9.37 DMD TCAP
9 nucleus localization GO:0051647 9.26 CAV3 DMD
10 detection of muscle stretch GO:0035995 9.16 CAV3 TCAP
11 regulation of skeletal muscle contraction GO:0014819 8.96 CAV3 DMD
12 muscle cell cellular homeostasis GO:0046716 8.8 CAPN3 CAV3 DMD

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.32 CAV3 TCAP
2 protein complex scaffold activity GO:0032947 9.26 CAPN3 CAV3
3 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
4 titin binding GO:0031432 8.96 CAPN3 TCAP
5 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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