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isolated elevated serum creatine phosphokinase levels

Summary

Synonym

elevated serum CPK
idiopathic hyperCKemia
isolated hyperCKemia

Definition

An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.

Super Class

autosomal dominant disease inherited metabolic disorder

External Links

Disease Ontology

DOID:0111338

Mondo Disease Ontology

MONDO:0007402

OMIM

123320

Related Genes

Displaying entries **1 - 10** of 49 in total

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Gene ID	Gene Symbol	Description	Source
34	ACADM	acyl-CoA dehydrogenase medium chain	DisGeNET
37	ACADVL	acyl-CoA dehydrogenase very long chain	DisGeNET
178	AGL	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	DisGeNET
1120	CHKB	choline kinase beta	DisGeNET
1374	CPT1A	carnitine palmitoyltransferase 1A	DisGeNET
1376	CPT2	carnitine palmitoyltransferase 2	DisGeNET
1605	DAG1	dystroglycan 1	DisGeNET
1798	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	DisGeNET
2027	ENO3	enolase 3	DisGeNET
2218	FKTN	fukutin	DisGeNET

Related Glycoprotein

Displaying entries **21 - 30** of 38 in total

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UniProt ID	Protein Name	Source
Q06210	Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1	DisGeNET
Q14118	Dystroglycan 1	DisGeNET
Q8NAT1	Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2	DisGeNET
Q8NBL1	Protein O-glucosyltransferase 1	DisGeNET
Q8NCR0	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2	DisGeNET
Q96AD5	Patatin-like phospholipase domain-containing protein 2	DisGeNET
Q96F25	UDP-N-acetylglucosamine transferase subunit ALG14	DisGeNET
Q96MW5	Conserved oligomeric Golgi complex subunit 8	DisGeNET
Q9H3H5	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	DisGeNET
Q9H5K3	Protein O-mannose kinase	DisGeNET