MCID: MSC031
MIFTS: 5

Muscular Phosphorylase Kinase Deficiency

Categories: Muscle diseases, Rare diseases

Aliases & Classifications for Muscular Phosphorylase Kinase Deficiency

MalaCards integrated aliases for Muscular Phosphorylase Kinase Deficiency:

Name: Muscular Phosphorylase Kinase Deficiency 20

Classifications:



Summaries for Muscular Phosphorylase Kinase Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 715 Definition Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. Epidemiology The disease is very rare with less than 30 patients reported in the literature. Clinical description The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Symptoms are usually mild, and myopathy may be asymptomatic. A neonatal form with generalized muscular hypotonia and respiratory insufficiency has also been described. Etiology Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmoduline) encoded by different genes on different chromosomes and differentially expressed in various tissues. Muscle-specific isoforms of the alpha and gamma subunits are encoded by the PHKA1 gene and the PHKG1 gene respectively, but until now mutations have been only identified in the PHKA1 gene and the transmission is X-linked. Diagnostic methods Biochemical diagnosis of the muscle form can be made by measuring phosphorylase kinase activity in a muscle biopsy. Genetic testing is useful to confirm or establish the diagnosis. Differential diagnosis Differential diagnoses include GSD due to myophosphorylase deficiency (GSD type V), and other GSDs affecting the muscle (GSD types XI, XII, XIII and XIV) (see these terms). Management and treatment Most patients do not require any specific treatment. Prognosis Prognosis is generally good.

MalaCards based summary : Muscular Phosphorylase Kinase Deficiency is related to myoglobinuria and myopathy. An important gene associated with Muscular Phosphorylase Kinase Deficiency is NEK3 (NIMA Related Kinase 3).

Related Diseases for Muscular Phosphorylase Kinase Deficiency

Diseases related to Muscular Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myoglobinuria 10.1
2 myopathy 10.1
3 phosphorylase kinase deficiency 10.1

Symptoms & Phenotypes for Muscular Phosphorylase Kinase Deficiency

Drugs & Therapeutics for Muscular Phosphorylase Kinase Deficiency

Search Clinical Trials , NIH Clinical Center for Muscular Phosphorylase Kinase Deficiency

Genetic Tests for Muscular Phosphorylase Kinase Deficiency

Anatomical Context for Muscular Phosphorylase Kinase Deficiency

Publications for Muscular Phosphorylase Kinase Deficiency

Articles related to Muscular Phosphorylase Kinase Deficiency:

# Title Authors PMID Year
1
[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. 61
8944243 1996

Variations for Muscular Phosphorylase Kinase Deficiency

Expression for Muscular Phosphorylase Kinase Deficiency

Search GEO for disease gene expression data for Muscular Phosphorylase Kinase Deficiency.

Pathways for Muscular Phosphorylase Kinase Deficiency

GO Terms for Muscular Phosphorylase Kinase Deficiency

Sources for Muscular Phosphorylase Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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