GSDIX
MCID: PHS018
MIFTS: 34

Phosphorylase Kinase Deficiency (GSDIX) malady

Categories: Genetic diseases

Aliases & Classifications for Phosphorylase Kinase Deficiency

Aliases & Descriptions for Phosphorylase Kinase Deficiency:

Name: Phosphorylase Kinase Deficiency 23 24 25
Phosphorylase B Kinase Deficiency 23 24 25
Glycogen Storage Disease Type Ix 23 24 25
Phk Deficiency 23 24 25
Gsdix 23 24 25
Gsd Ix 24 25
Deficiency of Phosphorylase Kinase 69
Glycogen Storage Disease, Type Ix 69

Characteristics:

GeneReviews:

23
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...

Classifications:



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 phosphorylase b kinase deficiency, is related to glycogen storage disease of heart, lethal congenital and phosphorylase kinase deficiency of liver and muscle, autosomal recessive. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (Phosphorylase Kinase Regulatory Subunit Beta), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart, and related phenotype is Decreased viability.

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.84 PHKA2 PRKAA2 PHKG2 PRKAG2 PHKA1 NEK3
2 Decreased viability GR00221-A-2 10.84 PHKA1 PHKB PHKA2 PHKG1 PRKAA2 PHKG2
3 Decreased viability GR00221-A-3 10.84 PHKA1 PHKB PHKA2 PHKG1 PRKAA2
4 Decreased viability GR00221-A-4 10.84 PHKB PHKA2 PHKG1 PRKAA2 PHKA1 NEK3
5 Decreased viability GR00342-S-1 10.84 PHKA2 PRKAA2
6 Decreased viability GR00342-S-2 10.84 PHKA2
7 Decreased viability GR00342-S-3 10.84 PHKG1 PHKA2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.89 PHKB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.89 PHKG2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.89 PHKA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.89 PHKG2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.89 PHKG2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.89 PHKA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.89 PHKB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.89 PHKB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.89 PHKB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.89 PHKA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.89 PHKA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.89 PHKA1 PHKB PHKG2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.89 PHKB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.89 PHKB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.89 PHKG2
23 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.43 PHKA2 PHKG1 PHKG2
24 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 PHKA1 PHKA2 PHKB

Drugs & Therapeutics for Phosphorylase Kinase Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

Search NIH Clinical Center for Phosphorylase Kinase Deficiency

Genetic Tests for Phosphorylase Kinase Deficiency

Genetic tests related to Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phosphorylase Kinase Deficiency 24

Anatomical Context for Phosphorylase Kinase Deficiency

MalaCards organs/tissues related to Phosphorylase Kinase Deficiency:

39
Liver, Skeletal Muscle, Heart

Publications for Phosphorylase Kinase Deficiency

Articles related to Phosphorylase Kinase Deficiency:

(show top 50) (show all 58)
id Title Authors Year
1
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. ( 24389071 )
2013
2
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? ( 22238410 )
2012
3
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. ( 17667862 )
2007
4
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
5
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. ( 16151901 )
2005
6
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
7
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. ( 15637709 )
2005
8
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. ( 12930917 )
2003
9
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. ( 12862311 )
2003
10
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ( 10905889 )
2000
11
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. ( 10368461 )
1999
12
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. ( 9870210 )
1998
13
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. ( 9384616 )
1998
14
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). ( 9245685 )
1997
15
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
16
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). ( 9215682 )
1997
17
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). ( 9326319 )
1997
18
[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. ( 8944243 )
1996
19
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes. ( 8830182 )
1996
20
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
21
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
22
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. ( 7847371 )
1995
23
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. ( 8145916 )
1994
24
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. ( 7874115 )
1994
25
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. ( 7957405 )
1994
26
Phosphorylase Kinase Deficiency ( 21634085 )
1993
27
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. ( 8298647 )
1993
28
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. ( 1674721 )
1991
29
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. ( 2303074 )
1990
30
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency. ( 2387090 )
1990
31
Skeletal muscle glycogen content, structure, and metabolism are normal in rats with hepatic glycogen phosphorylase kinase deficiency. ( 2635861 )
1989
32
I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. ( 2602386 )
1989
33
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency. ( 3148080 )
1988
34
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. ( 3459948 )
1986
35
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. ( 3987709 )
1985
36
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. ( 6962066 )
1982
37
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. ( 6285226 )
1982
38
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. ( 6820425 )
1982
39
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. ( 6938920 )
1981
40
X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. ( 7447922 )
1980
41
Metabolic adaptation in phosphorylase kinase deficiency. Changes in metabolite concentrations during tetanic stimulation of mouse leg muscles. ( 6768356 )
1980
42
Phosphorylase kinase deficiency and decreased fat accumulation in hybrid male mice (I X C3H). ( 7465553 )
1980
43
The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme. ( 6243933 )
1980
44
Hepatic phosphorylase kinase deficiency: a survey of phosphorylase kinase activity in erythrocytes. ( 739734 )
1978
45
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. ( 280544 )
1978
46
Stimulation of glycogenolysis by beta adrenergic agonists in skeletal muscle of mice with the phosphorylase kinase deficiency mutation (I strain). ( 978457 )
1976
47
The molecular basis of skeletal muscle phosphorylase kinase deficiency. ( 820556 )
1976
48
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency. ( 168880 )
1975
49
The phosphorylase kinase deficiency (Phk) locus in the mouse: evidence that the mutant allele codes for an enzyme with an abnormal structure. ( 1203056 )
1975
50
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. ( 4524311 )
1974

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 GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 PHKA1 PHKA2 PHKB PHKG1 PHKG2 PRKAA2
2
Show member pathways
13.19 PHKA1 PHKA2 PHKB PHKG1 PHKG2
3
Show member pathways
12.65 PHKA1 PHKA2 PHKB PHKG1 PHKG2
4
Show member pathways
12.52 PHKA1 PHKA2 PHKB PHKG1 PHKG2
5
Show member pathways
12.47 PHKA1 PHKA2 PHKB PHKG1 PHKG2 PRKAA2
6
Show member pathways
12.3 PHKA1 PHKA2 PHKB PHKG1 PHKG2
7
Show member pathways
12.23 PHKA1 PHKA2 PHKG1 PHKG2
8
Show member pathways
11.92 PHKA1 PHKA2 PHKB PHKG1 PHKG2
9 11.58 PHKB PHKG1 PHKG2
10 11.51 PRKAA2 PRKAG2
11 11.44 PRKAA2 PRKAG2
12 11.41 PRKAA2 PRKAG2
13 11.35 PRKAA2 PRKAG2
14 11.26 PRKAA2 PRKAG2
15 11.18 PHKA1 PHKA2 PHKB PHKG1 PHKG2 PRKAA2
16
Show member pathways
11.16 PRKAA2 PRKAG2
17 11.07 PRKAA2 PRKAG2
18 10.91 PHKA1 PHKA2 PHKB PHKG1 PHKG2
19 10.52 PRKAA2 PRKAG2

GO Terms for Phosphorylase Kinase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 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 14)
id 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 fatty acid biosynthetic process GO:0006633 9.54 PRKAA2 PRKAG2
7 regulation of macroautophagy GO:0016241 9.52 PRKAA2 PRKAG2
8 peptidyl-threonine phosphorylation GO:0018107 9.51 PHKG1 PHKG2
9 sterol biosynthetic process GO:0016126 9.49 PRKAA2 PRKAG2
10 glycogen biosynthetic process GO:0005978 9.48 PHKG1 PHKG2
11 carnitine shuttle GO:0006853 9.43 PRKAA2 PRKAG2
12 regulation of fatty acid biosynthetic process GO:0042304 9.4 PRKAA2 PRKAG2
13 glycogen catabolic process GO:0005980 9.35 PHKA1 PHKA2 PHKB PHKG1 PHKG2
14 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:

id 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 9.62 NEK3 PHKG1 PHKG2 PRKAA2
4 kinase activity GO:0016301 9.55 NEK3 PHKG1 PHKG2 PRKAA2 PRKAG2
5 tau-protein kinase activity GO:0050321 9.37 PHKG1 PHKG2
6 calmodulin binding GO:0005516 9.35 PHKA1 PHKA2 PHKB PHKG1 PHKG2
7 AMP-activated protein kinase activity GO:0004679 9.26 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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