GSDIX
MCID: PHS018
MIFTS: 36

Phosphorylase Kinase Deficiency (GSDIX) malady

Genetic diseases (common) category
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Summaries for Phosphorylase Kinase Deficiency

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MalaCards based summary: Phosphorylase Kinase Deficiency, also known as phk 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

Aliases & Classifications for Phosphorylase Kinase Deficiency

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Phosphorylase Kinase Deficiency, Aliases & Descriptions:

Name: Phosphorylase Kinase Deficiency 19 20 21
Phk Deficiency 19 21 62
Gsdix 19 21 62
Phosphorylase B Kinase Deficiency 19 21
 
Glycogen Storage Disease Type Ix 19 21
Deficiency of Phosphorylase Kinase 62
Glycogen Storage Disease, Type Ix 62
Gsd Ix 21


Classifications:

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


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:

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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:

32
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 56)
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
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
4
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. (16151901)
2005
5
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
6
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. (15637709)
2005
7
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. (12930917)
2003
8
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) (10905889)
2000
9
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. (9870210)
1998
10
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
11
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). (9326319)
1997
12
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (9215682)
1997
13
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
14
Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. (8944243)
1996
15
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes. (8830182)
1996
16
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
17
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. (7847371)
1995
18
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. (8145916)
1994
19
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. (7957405)
1994
20
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. (7874115)
1994
21
Phosphorylase Kinase Deficiency (21634085)
1993
22
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. (1674721)
1991
23
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency. (2387090)
1990
24
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. (2303074)
1990
25
I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. (2602386)
1989
26
Skeletal muscle glycogen content, structure, and metabolism are normal in rats with hepatic glycogen phosphorylase kinase deficiency. (2635861)
1989
27
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency. (3148080)
1988
28
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. (3459948)
1986
29
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. (3987709)
1985
30
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. (6820425)
1982
31
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. (6285226)
1982
32
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (6962066)
1982
33
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. (6938920)
1981
34
The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme. (6243933)
1980
35
Phosphorylase kinase deficiency and decreased fat accumulation in hybrid male mice (I X C3H). (7465553)
1980
36
Hepatic phosphorylase kinase deficiency: a survey of phosphorylase kinase activity in erythrocytes. (739734)
1978
37
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. (280544)
1978
38
The molecular basis of skeletal muscle phosphorylase kinase deficiency. (820556)
1976
39
Stimulation of glycogenolysis by beta adrenergic agonists in skeletal muscle of mice with the phosphorylase kinase deficiency mutation (I strain). (978457)
1976
40
The phosphorylase kinase deficiency (Phk) locus in the mouse: evidence that the mutant allele codes for an enzyme with an abnormal structure. (1203056)
1975
41
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
42
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. (4524311)
1974
43
Skeletal muscle phosphorylase kinase deficiency: detection of a protein lacking any activity in ICR-IAn mice. (4198146)
1973
44
Glycogen phosphorylase kinase deficiency: a survey of enzymes in phosphorylase activating system. (4356658)
1973
45
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. (4518931)
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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Expression patterns in normal tissues for genes affiliated with Phosphorylase Kinase Deficiency

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Pathways for genes affiliated with Phosphorylase Kinase Deficiency

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Pathways related to Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

(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 signaling60
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 cardiomyopathy37
8.5PRKAG2, PRKAA2, IGF1
14
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
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 shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
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 regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
6.5PHKG1, IGF1, PRKAA2, PRKAG2, PHKA2, PHKG2

Compounds for genes affiliated with Phosphorylase Kinase Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 28IUPHAR
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Compounds related to Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aicar44 24 1111.1PRKAA2, IGF1
22-deoxyglucose44 1110.0IGF1, PRKAA2
3metformin44 50 1110.8PRKAA2, IGF1
4Adenosine triphosphate24 119.8NEK3, PRKAA2, PHKG2, PHKG1
5creatinine448.8PRKAA2, NEK3, IGF1
6adp44 28 2410.4NEK3, PRKAA2, PHKA2, PHKG2, PHKG1
7glycogen44 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase complexGO:0059648.5PHKG1, PHKB, PHKG2, PHKA2
2cytosolGO:0058297.3PRKAG2, PHKA2, PHKG2, PHKA1, PHKB, PHKG1

Biological processes related to Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:0059789.6PHKG2, PHKG1
2regulation of fatty acid biosynthetic processGO:0423049.5PRKAA2, PRKAG2
3carnitine shuttleGO:0068539.4PRKAG2, PRKAA2
4cell cycle arrestGO:0070509.3PRKAG2, PRKAA2
5fatty acid biosynthetic processGO:0066339.2PRKAG2, PRKAA2
6positive regulation of glycolytic processGO:0458219.2PRKAA2, IGF1
7generation of precursor metabolites and energyGO:0060919.2PHKB, PHKA1, PHKG2, PHKA2
8glycogen metabolic processGO:0059779.0PRKAG2, PHKG2, PHKA1, PHKB
9energy reserve metabolic processGO:0061129.0PRKAG2, PRKAA2
10glycogen catabolic processGO:0059808.7PHKG1, PHKB, PHKA1, PHKG2, PHKA2
11glucose metabolic processGO:0060068.7PHKA2, PHKG2, PHKA1, PHKB, PHKG1
12carbohydrate metabolic processGO:0059758.6PHKA2, PHKG2, PHKA1, PHKB, PHKG1
13protein phosphorylationGO:0064688.5PHKA1, PHKG2, PHKA2, PRKAA2, NEK3
14small molecule metabolic processGO:0442817.5PRKAA2, PRKAG2, PHKA2, PHKG2, PHKA1, PHKB

Molecular functions related to Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tau-protein kinase activityGO:0503219.5PHKG1, PHKG2
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:0045539.3PHKA2, PHKA1, PHKB
3protein serine/threonine kinase activityGO:0046749.2PHKG2, PRKAA2, NEK3
4phosphorylase kinase activityGO:0046898.5PHKG1, PHKB, PHKA1, PHKG2, PHKA2
5calmodulin bindingGO:0055168.5PHKA2, PHKG2, PHKA1, PHKB, PHKG1
6ATP bindingGO:0055247.8NEK3, PRKAA2, PRKAG2, PHKG2, PHKG1

Products for genes affiliated with Phosphorylase Kinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Phosphorylase Kinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet