MCID: ISL077
MIFTS: 19

Isolated Hyperckemia

Categories: Genetic diseases

Aliases & Classifications for Isolated Hyperckemia

MalaCards integrated aliases for Isolated Hyperckemia:

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

Classifications:



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 idiopathic persistent elevation of serum creatine kinase, is related to creatine phosphokinase, elevated serum and cav3-related isolated hyperckemia. An important gene associated with Isolated Hyperckemia is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Related phenotypes are homeostasis/metabolism and muscle

Related Diseases for Isolated Hyperckemia

Diseases in the Isolated Hyperckemia family:

Cav3-Related Isolated Hyperckemia

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 creatine phosphokinase, elevated serum 32.6 CAV3 FKRP
2 cav3-related isolated hyperckemia 11.9
3 rippling muscle disease 10.9
4 salih myopathy 10.2 CAPN3 FKRP
5 acetyl-coa carboxylase deficiency 10.2 CAPN3 FKRP
6 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.2 CAPN3 FKRP
7 cardiomyopathy, hypertrophic, 25 10.2 CAPN3 FKRP
8 charcot-marie-tooth disease, type 2b2 10.2 CAPN3 FKRP
9 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 CAPN3 FKRP
10 schizophrenia 16 10.1 CAV3 FKRP
11 anonychia congenita 9.9 CAPN3 DMD
12 pulmonary hypertension, primary, 2 9.9 CAPN3 DMD
13 duchenne muscular dystrophy 9.9
14 malignant hyperthermia 9.9
15 mct8-specific thyroid hormone cell-membrane transporter deficiency 9.9 CAPN3 CAV3
16 muscular dystrophy, congenital, 1b 9.9 DMD FKRP
17 muscular dystrophy 9.9
18 limb-girdle muscular dystrophy 9.9
19 dermatofibrosarcoma protuberans 9.8 DMD FKRP
20 myopathy, myofibrillar, 3 9.7 CAPN3 CAV3 FKRP
21 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 CAPN3 CAV3 FKRP
22 muscular dystrophy-dystroglycanopathy , type b, 4 9.7 DMD FKRP
23 ullrich congenital muscular dystrophy 1 9.7 CAPN3 DMD
24 complement component c2 deficiency 9.7 DMD FKRP
25 craniofrontonasal dysplasia 9.7 DMD FKRP
26 muscular phosphorylase kinase deficiency 9.6 DMD FKRP
27 immunodeficiency 34, mycobacteriosis, x-linked 9.5 CAV3 DMD
28 adult intracranial malignant hemangiopericytoma 9.5 CAPN3 DMD
29 lyme disease 9.4 CAPN3 CAV3 DMD
30 autosomal recessive limb-girdle muscular dystrophy type 2e 9.4 CAPN3 DMD FKRP
31 muscular dystrophy, congenital 9.4 CAPN3 DMD FKRP
32 glycogen storage disease 0, muscle 9.4 CAV3 DMD FKRP
33 myopathy, distal, tateyama type 9.3 CAV3 DMD GDAP1
34 nonsyndromic deafness 9.2 DMD FKRP
35 casr-related disorders 9.1 CAV3 DMD FKRP
36 peeling skin syndrome 2 8.9 CAPN3 CAV3 DMD FKRP
37 eosinophilic variant of chromophobe renal cell carcinoma 8.9 CAPN3 CAV3 DMD FKRP
38 periodontosis 8.9 CAPN3 CAV3 DMD FKRP
39 clear cell sarcoma 8.9 CAPN3 CAV3 DMD FKRP
40 multiple endocrine neoplasia 8.3 CAPN3 CAV3 DMD FKRP GDAP1

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 CAPN3 CAV3 DMD FKRP GDAP1
2 muscle MP:0005369 8.92 CAPN3 CAV3 DMD FKRP

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:

id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
2 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
3 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
4 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh37 Chromosome 3, 8775648: 8775648
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

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:

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.54 CAPN3 CAV3 DMD
2 Z disc GO:0030018 9.33 CAPN3 CAV3 DMD
3 myofibril GO:0030016 9.32 CAPN3 DMD
4 T-tubule GO:0030315 9.26 CAPN3 CAV3
5 sarcolemma GO:0042383 9.13 CAV3 DMD FKRP
6 mitochondrial outer membrane GO:0005741 9.1 GDAP1
7 dystrophin-associated glycoprotein complex GO:0016010 8.8 CAV3 DMD FKRP

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

id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.43 CAPN3 CAV3 DMD
2 regulation of membrane potential GO:0042391 9.37 CAV3 DMD
3 regulation of heart rate GO:0002027 9.32 CAV3 DMD
4 nucleus localization GO:0051647 9.16 CAV3 DMD
5 regulation of skeletal muscle contraction GO:0014819 8.96 CAV3 DMD
6 muscle cell cellular homeostasis GO:0046716 8.8 CAPN3 CAV3 DMD

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.16 CAPN3 DMD
2 protein complex scaffold GO:0032947 8.96 CAPN3 CAV3
3 nitric-oxide synthase binding GO:0050998 8.62 CAV3 DMD

Sources for Isolated Hyperckemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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