MCID: PHS018
MIFTS: 35

Phosphorylase Kinase Deficiency

Aliases & Classifications for Phosphorylase Kinase Deficiency

MalaCards integrated aliases for Phosphorylase Kinase Deficiency:

Name: Phosphorylase Kinase Deficiency 24 25
Glycogen Storage Disease Type Ix 24 25 37
Phosphorylase B Kinase Deficiency 24 25
Phk Deficiency 24 25
Gsdix 24 25
Deficiency of Phosphorylase Kinase 73
Glycogen Storage Disease, Type Ix 73
Gsd Ix 25

Characteristics:

GeneReviews:

24
Penetrance Assay of enzyme activity has identified liver phk deficiency in asymptomatic males following diagnosis of another family member [willems et al 1990]. however, it is unclear whether these individuals were adults at the time of the study (and therefore findings had resolved) or whether findings (e.g., hepatomegaly or short stature in childhood) had ever been present. presenting symptoms can be variable. for example, one child with a pathogenic splice site variant in phka2 had only short stature and no hepatomegaly or biochemical abnormalities at age 6.8 years [hirono et al 1998]. further family studies are required to fully determine variability and penetrance of presenting findings...

External Ids:

KEGG 37 H01948

Summaries for Phosphorylase Kinase Deficiency

Genetics Home Reference : 25 Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.

MalaCards based summary : Phosphorylase Kinase Deficiency, also known as glycogen storage disease type ix, is related to glycogen storage disease due to liver phosphorylase kinase deficiency and glycogen storage disease, type ixd. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (Phosphorylase Kinase Regulatory Subunit Beta), and among its related pathways/superpathways are Insulin signaling pathway and Glucagon signaling pathway. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 Phosphorylase kinase (PhK) is a serine/threonine-specific protein kinase which activates glycogen... more...

GeneReviews: NBK55061

Related Diseases for Phosphorylase Kinase Deficiency

Graphical network of the top 20 diseases related to Phosphorylase Kinase Deficiency:



Diseases related to Phosphorylase Kinase Deficiency

Symptoms & Phenotypes for Phosphorylase Kinase Deficiency

GenomeRNAi Phenotypes related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.68 PHKG2 PRKAA2 PRKAG2 PHKA2 NEK3
2 Decreased viability GR00221-A-2 10.68 PHKG1 PHKG2 PRKAA2 PHKA1 PRKAG2 PHKA2
3 Decreased viability GR00221-A-3 10.68 PHKG1 PRKAA2 PHKA1 PHKA2 PHKB
4 Decreased viability GR00221-A-4 10.68 PHKG1 PRKAA2 PHKA2 PHKB NEK3
5 Decreased viability GR00342-S-1 10.68 PRKAA2 PHKA2
6 Decreased viability GR00342-S-2 10.68 PHKA2
7 Decreased viability GR00342-S-3 10.68 PHKG1 PHKA2
8 Decreased viability GR00402-S-2 10.68 PHKG1 PHKG2 PRKAA2 PHKA1 PRKAG2 PHKA2
9 Increased cell death HMECs cells GR00103-A-0 8.92 NEK3 PHKA2 PHKG1 RNF40

Drugs & Therapeutics for Phosphorylase Kinase Deficiency

Drugs for Phosphorylase Kinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Phosphorylase Kinase Deficiency

Genetic Tests for Phosphorylase Kinase Deficiency

Anatomical Context for Phosphorylase Kinase Deficiency

MalaCards organs/tissues related to Phosphorylase Kinase Deficiency:

41
Liver, Skeletal Muscle, Heart

Publications for Phosphorylase Kinase Deficiency

Articles related to Phosphorylase Kinase Deficiency:

(show top 50) (show all 65)
# Title Authors Year
1
Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. ( 28085675 )
2017
2
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. ( 27103379 )
2016
3
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. ( 24389071 )
2013
4
Aggressive therapy improves cirrhosis in glycogen storage disease type IX. ( 23578772 )
2013
5
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? ( 22238410 )
2012
6
Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. ( 21857251 )
2012
7
Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China. ( 21131218 )
2011
8
Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency). ( 17581768 )
2007
9
Glycogen storage disease type IX: High variability in clinical phenotype. ( 17689125 )
2007
10
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. ( 17667862 )
2007
11
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. ( 16151901 )
2005
12
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. ( 15637709 )
2005
13
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. ( 15877279 )
2005
14
[Glycogen storage disease type IX presenting as abdominal distention, hepatomegaly and hypoglycemia during infancy]. ( 15530325 )
2004
15
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. ( 12930917 )
2003
16
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. ( 12862311 )
2003
17
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ( 10905889 )
2000
18
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. ( 10368461 )
1999
19
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. ( 9384616 )
1998
20
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. ( 9870210 )
1998
21
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). ( 9326319 )
1997
22
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). ( 9402963 )
1997
23
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). ( 9245685 )
1997
24
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). ( 9215682 )
1997
25
[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. ( 8944243 )
1996
26
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). ( 8733134 )
1996
27
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes. ( 8830182 )
1996
28
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. ( 7847371 )
1995
29
Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. ( 7549948 )
1995
30
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. ( 7957405 )
1994
31
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. ( 7874115 )
1994
32
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. ( 8145916 )
1994
33
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. ( 8298647 )
1993
34
Phosphorylase Kinase Deficiency ( 21634085 )
1993
35
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. ( 1674721 )
1991
36
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency. ( 2387090 )
1990
37
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. ( 2303074 )
1990
38
Skeletal muscle glycogen content, structure, and metabolism are normal in rats with hepatic glycogen phosphorylase kinase deficiency. ( 2635861 )
1989
39
I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. ( 2602386 )
1989
40
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency. ( 3148080 )
1988
41
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. ( 3459948 )
1986
42
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. ( 3987709 )
1985
43
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. ( 6285226 )
1982
44
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. ( 6962066 )
1982
45
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. ( 6820425 )
1982
46
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. ( 6938920 )
1981
47
Phosphorylase kinase deficiency and decreased fat accumulation in hybrid male mice (I X C3H). ( 7465553 )
1980
48
Metabolic adaptation in phosphorylase kinase deficiency. Changes in metabolite concentrations during tetanic stimulation of mouse leg muscles. ( 6768356 )
1980
49
X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. ( 7447922 )
1980
50
The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme. ( 6243933 )
1980

Variations for Phosphorylase Kinase Deficiency

Expression for Phosphorylase Kinase Deficiency

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

Pathways for Phosphorylase Kinase Deficiency

Pathways related to Phosphorylase Kinase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Insulin signaling pathway hsa04910
2 Glucagon signaling pathway hsa04922

Pathways related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 PHKA1 PHKA2 PHKB PHKG1 PHKG2
2
Show member pathways
12.52 PHKA1 PHKA2 PHKB PHKG1 PHKG2
3
Show member pathways
12.47 PHKA1 PHKA2 PHKB PHKG1 PHKG2 PRKAA2
4
Show member pathways
12.3 PHKA1 PHKA2 PHKB PHKG1 PHKG2
5
Show member pathways
12.23 PHKA1 PHKA2 PHKG1 PHKG2
6
Show member pathways
11.92 PHKA1 PHKA2 PHKB PHKG1 PHKG2
7 11.52 PHKB PHKG1 PHKG2
8 11.33 PRKAA2 PRKAG2
9 11.24 PRKAA2 PRKAG2
10 11.18 PHKA1 PHKA2 PHKB PHKG1 PHKG2 PRKAA2
11
Show member pathways
11.14 PRKAA2 PRKAG2
12 11.05 PRKAA2 PRKAG2
13 10.91 PHKA1 PHKA2 PHKB PHKG1 PHKG2
14 10.52 PRKAA2 PRKAG2

GO Terms for Phosphorylase Kinase Deficiency

Cellular components related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.76 PHKA1 PHKA2 PHKB PHKG1 PHKG2 PRKAA2
2 phosphorylase kinase complex GO:0005964 9.02 PHKA1 PHKA2 PHKB PHKG1 PHKG2
3 nucleotide-activated protein kinase complex GO:0031588 8.96 PRKAA2 PRKAG2

Biological processes related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.77 NEK3 PHKG1 PHKG2 PRKAA2 PRKAG2
2 intracellular signal transduction GO:0035556 9.76 PHKG1 PHKG2 PRKAA2 PRKAG2
3 protein phosphorylation GO:0006468 9.76 NEK3 PHKA1 PHKA2 PHKB PHKG1 PHKG2
4 carbohydrate metabolic process GO:0005975 9.72 PHKA1 PHKA2 PHKB PHKG1 PHKG2
5 generation of precursor metabolites and energy GO:0006091 9.56 PHKA1 PHKA2 PHKB PHKG2
6 sterol biosynthetic process GO:0016126 9.49 PRKAA2 PRKAG2
7 glycogen biosynthetic process GO:0005978 9.48 PHKG1 PHKG2
8 carnitine shuttle GO:0006853 9.43 PRKAA2 PRKAG2
9 regulation of fatty acid biosynthetic process GO:0042304 9.4 PRKAA2 PRKAG2
10 glycogen catabolic process GO:0005980 9.35 PHKA1 PHKA2 PHKB PHKG1 PHKG2
11 glycogen metabolic process GO:0005977 9.1 PHKA1 PHKA2 PHKB PHKG1 PHKG2 PRKAG2

Molecular functions related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.83 NEK3 PHKG1 PHKG2 PRKAA2 PRKAG2
2 protein kinase activity GO:0004672 9.71 NEK3 PHKG1 PHKG2 PRKAA2
3 protein serine/threonine kinase activity GO:0004674 9.67 NEK3 PHKG1 PHKG2 PRKAA2
4 kinase activity GO:0016301 9.65 NEK3 PHKG1 PHKG2 PRKAA2 PRKAG2
5 calmodulin binding GO:0005516 9.35 PHKA1 PHKA2 PHKB PHKG1 PHKG2
6 tau-protein kinase activity GO:0050321 9.32 PHKG1 PHKG2
7 AMP-activated protein kinase activity GO:0004679 9.16 PRKAA2 PRKAG2
8 phosphorylase kinase activity GO:0004689 9.02 PHKA1 PHKA2 PHKB PHKG1 PHKG2

Sources for 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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