MCID: PHS018
MIFTS: 31

Phosphorylase Kinase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Phosphorylase Kinase Deficiency

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Phosphorylase Kinase Deficiency, Aliases & Descriptions:

Name: Phosphorylase Kinase Deficiency 19 20 21
Phosphorylase B Kinase Deficiency 19 21
Glycogen Storage Disease Type Ix 19 21
Phk Deficiency 19 21
 
Gsdix 19 21
Deficiency of Phosphorylase Kinase 60
Glycogen Storage Disease, Type Ix 60
Gsd Ix 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Summaries for Phosphorylase Kinase Deficiency

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Genetics Home Reference:21 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 muscle glycogenosis and hypoglycemia. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (phosphorylase kinase, beta), and among its related pathways are Energy Metabolism and Metformin Pathway, Pharmacodynamic. The compounds aicar and 2-deoxyglucose have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart.

GeneReviews summary for gsd9

Related Diseases for Phosphorylase Kinase Deficiency

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



Diseases related to phosphorylase kinase deficiency

Symptoms for Phosphorylase Kinase Deficiency

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Drugs & Therapeutics for Phosphorylase Kinase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Phosphorylase Kinase Deficiency

Search NIH Clinical Center for Phosphorylase Kinase Deficiency

Genetic Tests for Phosphorylase Kinase Deficiency

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Genetic tests related to Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phosphorylase Kinase Deficiency20

Anatomical Context for Phosphorylase Kinase Deficiency

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MalaCards organs/tissues related to Phosphorylase Kinase Deficiency:

31
Liver, Skeletal muscle, Heart

Animal Models for Phosphorylase Kinase Deficiency or affiliated genes

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Publications for Phosphorylase Kinase Deficiency

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Articles related to Phosphorylase Kinase Deficiency:

(show top 50)    (show all 57)
idTitleAuthorsYear
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
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) (10905889)
2000
10
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. (9870210)
1998
11
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
12
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). (9326319)
1997
13
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). (9245685)
1997
14
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (9215682)
1997
15
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
16
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes. (8830182)
1996
17
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
18
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. (7847371)
1995
19
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. (8145916)
1994
20
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. (7957405)
1994
21
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. (7874115)
1994
22
Phosphorylase Kinase Deficiency (21634085)
1993
23
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. (1674721)
1991
24
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency. (2387090)
1990
25
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. (2303074)
1990
26
I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. (2602386)
1989
27
Skeletal muscle glycogen content, structure, and metabolism are normal in rats with hepatic glycogen phosphorylase kinase deficiency. (2635861)
1989
28
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency. (3148080)
1988
29
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. (3459948)
1986
30
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. (3987709)
1985
31
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. (6820425)
1982
32
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. (6285226)
1982
33
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (6962066)
1982
34
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. (6938920)
1981
35
The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme. (6243933)
1980
36
Phosphorylase kinase deficiency and decreased fat accumulation in hybrid male mice (I X C3H). (7465553)
1980
37
Hepatic phosphorylase kinase deficiency: a survey of phosphorylase kinase activity in erythrocytes. (739734)
1978
38
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. (280544)
1978
39
The molecular basis of skeletal muscle phosphorylase kinase deficiency. (820556)
1976
40
Stimulation of glycogenolysis by beta adrenergic agonists in skeletal muscle of mice with the phosphorylase kinase deficiency mutation (I strain). (978457)
1976
41
The phosphorylase kinase deficiency (Phk) locus in the mouse: evidence that the mutant allele codes for an enzyme with an abnormal structure. (1203056)
1975
42
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
43
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. (4524311)
1974
44
Skeletal muscle phosphorylase kinase deficiency: detection of a protein lacking any activity in ICR-IAn mice. (4198146)
1973
45
Glycogen phosphorylase kinase deficiency: a survey of enzymes in phosphorylase activating system. (4356658)
1973
46
Liver glycogenosis and phosphorylase kinase deficiency. (5270453)
1970
47
Phosphorylase kinase deficiency. (5444101)
1970
48
Phosphorylase kinase deficiency in mice. (11945425)
1970
49
Liver glycogenosis and phosphorylase kinase deficiency. (5270452)
1970
50
X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. (5306139)
1969

Variations for Phosphorylase Kinase Deficiency

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Expression for genes affiliated with Phosphorylase Kinase Deficiency

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

Pathways for genes affiliated with Phosphorylase Kinase Deficiency

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

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PRKAA2, PRKAG2
2
Show member pathways
9.3PRKAG2, PRKAA2
3
Show member pathways
9.3PRKAG2, PRKAA2
49.3PRKAG2, PRKAA2
59.3PRKAA2, PRKAG2
6
Show member pathways
9.3PRKAG2, PRKAA2
7
Show member pathways
9.3PRKAG2, PRKAA2
89.3PRKAG2, PRKAA2
99.3PHKG2, PHKB, PHKG1
10
Show member pathways
Signal transduction cAMP signaling58
8.7PHKA2, PHKG2, PHKA1, PHKG1
11
Show member pathways
8.5IGF1, PRKAA2, PRKAG2
12
Show member pathways
8.5IGF1, PRKAA2, PRKAG2
13
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.5PRKAG2, PRKAA2, IGF1
14
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.5PRKAG2, PRKAA2, IGF1
158.4PHKA2, PHKG2, PHKA1, PHKB, PHKG1
16
Show member pathways
8.4PHKA2, PHKG2, PHKA1, PHKB, PHKG1
17
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
8.4PHKA2, PHKG2, PHKA1, PHKB, PHKG1
188.4PHKA2, PHKG2, PHKA1, PHKB, PHKG1
19
Show member pathways
7.6IGF1, PHKA2, PHKG2, PHKA1, PHKB, PHKG1
20
Show member pathways
7.6IGF1, PHKA2, PHKG2, PHKA1, PHKB, PHKG1
21
Show member pathways
7.3PRKAA2, PRKAG2, PHKA2, PHKG2, PHKA1, PHKB
22
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
6.5PHKG1, IGF1, PRKAA2, PRKAG2, PHKA2, PHKG2

Compounds for genes affiliated with Phosphorylase Kinase Deficiency

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB, 28IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1aicar43 24 1211.1PRKAA2, IGF1
22-deoxyglucose43 1210.0IGF1, PRKAA2
3metformin43 49 1210.8PRKAA2, IGF1
4Adenosine triphosphate24 129.8NEK3, PRKAA2, PHKG2, PHKG1
5creatinine438.8PRKAA2, NEK3, IGF1
6adp43 28 2410.4NEK3, PRKAA2, PHKA2, PHKG2, PHKG1
7glycogen43 249.0PHKB, PHKG2, PHKA2, PRKAG2, PRKAA2, NEK3

GO Terms for genes affiliated with Phosphorylase Kinase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase complexGO:00059648.5PHKG1, PHKB, PHKG2, PHKA2
2cytosolGO:00058297.3PRKAG2, PHKA2, PHKG2, PHKA1, PHKB, PHKG1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00059789.6PHKG2, PHKG1
2regulation of fatty acid biosynthetic processGO:00423049.5PRKAA2, PRKAG2
3carnitine shuttleGO:00068539.4PRKAG2, PRKAA2
4cell cycle arrestGO:00070509.3PRKAG2, PRKAA2
5fatty acid biosynthetic processGO:00066339.2PRKAG2, PRKAA2
6positive regulation of glycolytic processGO:00458219.2PRKAA2, IGF1
7generation of precursor metabolites and energyGO:00060919.2PHKB, PHKA1, PHKG2, PHKA2
8glycogen metabolic processGO:00059779.0PRKAG2, PHKG2, PHKA1, PHKB
9energy reserve metabolic processGO:00061129.0PRKAG2, PRKAA2
10glycogen catabolic processGO:00059808.7PHKG1, PHKB, PHKA1, PHKG2, PHKA2
11glucose metabolic processGO:00060068.7PHKA2, PHKG2, PHKA1, PHKB, PHKG1
12carbohydrate metabolic processGO:00059758.6PHKA2, PHKG2, PHKA1, PHKB, PHKG1
13protein phosphorylationGO:00064688.5PHKA1, PHKG2, PHKA2, PRKAA2, NEK3
14small molecule metabolic processGO:00442817.5PRKAA2, PRKAG2, PHKA2, PHKG2, PHKA1, PHKB

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

idNameGO IDScoreTop Affiliating Genes
1tau-protein kinase activityGO:00503219.5PHKG1, PHKG2
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.3PHKA2, PHKA1, PHKB
3protein serine/threonine kinase activityGO:00046749.2PHKG2, PRKAA2, NEK3
4phosphorylase kinase activityGO:00046898.5PHKG1, PHKB, PHKA1, PHKG2, PHKA2
5calmodulin bindingGO:00055168.5PHKA2, PHKG2, PHKA1, PHKB, PHKG1
6ATP bindingGO:00055247.8NEK3, PRKAA2, PRKAG2, PHKG2, PHKG1

Products for genes affiliated with Phosphorylase Kinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Phosphorylase Kinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet