MCID: MSC031
MIFTS: 6

Muscular Phosphorylase Kinase Deficiency

Categories: Rare diseases, Muscle diseases

Aliases & Classifications for Muscular Phosphorylase Kinase Deficiency

MalaCards integrated aliases for Muscular Phosphorylase Kinase Deficiency:

Name: Muscular Phosphorylase Kinase Deficiency 53

Classifications:



Summaries for Muscular Phosphorylase Kinase Deficiency

NIH Rare Diseases : 53 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 9.9

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:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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