MCID: MSC031
MIFTS: 6

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 54

Classifications:



Summaries for Muscular Phosphorylase Kinase Deficiency

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 715Disease definitionGlycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.EpidemiologyThe disease is very rare with less than 30 patients reported in the literature.Clinical descriptionThe 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.EtiologyPhosphorylase 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 methodsBiochemical 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 diagnosisDifferential 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 treatmentMost patients do not require any specific treatment.PrognosisPrognosis is generally good.Visit the Orphanet disease page for more resources.

MalaCards based summary : Muscular Phosphorylase Kinase Deficiency is related to phosphorylase kinase deficiency. An important gene associated with Muscular Phosphorylase Kinase Deficiency is NEK3 (NIMA Related Kinase 3). Affiliated tissues include testes.

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 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

MalaCards organs/tissues related to Muscular Phosphorylase Kinase Deficiency:

42
Testes

Publications for Muscular Phosphorylase Kinase Deficiency

Articles related to Muscular Phosphorylase Kinase Deficiency:

# Title Authors Year
1
[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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