GSDIX
MCID: PHS018
MIFTS: 35

Phosphorylase Kinase Deficiency (GSDIX) malady

Summaries for Phosphorylase Kinase Deficiency

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19GeneReviews, 32MalaCards
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MalaCards: Phosphorylase Kinase Deficiency, also known as phosphorylase b kinase deficiency, is related to glycogen storage disease and muscle glycogenosis. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (phosphorylase kinase, beta), and among its related pathways are Energy dependent regulation of mTOR by LKB1-AMPK and Metformin Pathway, Pharmacodynamic. The compounds metformin and aicar 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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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 60UMLS
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Aliases & Descriptions:

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


Related Diseases for Phosphorylase Kinase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Phosphorylase Kinase Deficiency:



Diseases related to phosphorylase kinase deficiency

Clinical Features for Phosphorylase Kinase Deficiency

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Drugs & Therapeutics for Phosphorylase Kinase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Phosphorylase Kinase Deficiency

Search CenterWatch for Phosphorylase Kinase Deficiency

Genetic Tests for Phosphorylase Kinase Deficiency

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Phosphorylase Kinase Deficiency:

32
Liver, Skeletal muscle, Heart, T cells

Animal Models for Phosphorylase Kinase Deficiency or affiliated genes

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Publications for Phosphorylase Kinase Deficiency

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50PubMed
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Articles related to Phosphorylase Kinase Deficiency:

(show top 50)    (show all 76)
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
Muscle phosphorylase b kinase deficiency revisited. (20080404)
2010
4
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? (18401027)
2008
5
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. (17667862)
2007
6
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
7
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
8
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. (12930917)
2003
9
Adult-onset exercise intolerance due to phosphorylase b kinase deficiency. (11386811)
2001
10
Phosphorylase b kinase deficiency]. (11596358)
2001
11
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) (10905889)
2000
12
Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. (10832587)
2000
13
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. (10368461)
1999
14
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. (9870210)
1998
15
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. (9384616)
1998
16
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
17
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). (9326319)
1997
18
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (9215682)
1997
19
Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. (8944243)
1996
20
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes. (8830182)
1996
21
Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood]. (9019646)
1996
22
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
23
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. (7847371)
1995
24
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. (7562285)
1995
25
Factor XI and phosphorylase b kinase deficiency. (7623455)
1995
26
Five cases of phosphorylase b kinase deficiency affecting muscle or liver: clinical symptoms and diagnosis]. (7803079)
1994
27
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. (8145916)
1994
28
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. (7957405)
1994
29
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. (8362811)
1993
30
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. (1674721)
1991
31
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency. (2387090)
1990
32
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency. (2128163)
1990
33
I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. (2602386)
1989
34
Skeletal muscle glycogen content, structure, and metabolism are normal in rats with hepatic glycogen phosphorylase kinase deficiency. (2635861)
1989
35
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. (3987709)
1985
36
The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency. (6312962)
1983
37
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. (6285226)
1982
38
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. (6938920)
1981
39
The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme. (6243933)
1980
40
Metabolic adaptation in phosphorylase kinase deficiency. Changes in metabolite concentrations during tetanic stimulation of mouse leg muscles. (6768356)
1980
41
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. (280544)
1978
42
The molecular basis of skeletal muscle phosphorylase kinase deficiency. (820556)
1976
43
The phosphorylase kinase deficiency (Phk) locus in the mouse: evidence that the mutant allele codes for an enzyme with an abnormal structure. (1203056)
1975
44
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
45
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. (4524311)
1974
46
Skeletal muscle phosphorylase kinase deficiency: detection of a protein lacking any activity in ICR-IAn mice. (4198146)
1973
47
Glycogen phosphorylase kinase deficiency: a survey of enzymes in phosphorylase activating system. (4356658)
1973
48
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. (4518931)
1973
49
Phosphorylase kinase deficiency in mice. (11945425)
1970
50
Liver glycogenosis and phosphorylase kinase deficiency. (5270452)
1970

Genetic Variations for Phosphorylase Kinase Deficiency

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Expression for genes affiliated with Phosphorylase Kinase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 29KEGG, 12EMD Millipore, 51QIAGEN
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Pathways related to Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3PRKAA2, PRKAG2
29.3PRKAG2, PRKAA2
39.3PRKAA2, PRKAG2
49.3PRKAG2, PRKAA2
5
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9.3PRKAG2, PRKAA2
69.3PRKAA2, PRKAG2
79.3PRKAA2, PRKAG2
8
Development Leptin signaling via PI3K-dependent pathway
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9.3PRKAA2, PRKAG2
99.3PRKAA2, PRKAG2
109.2PHKB, PHKG2, PHKG1
11
Signal transduction cAMP signaling
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8.8PHKA1, PHKA2, PHKG2, PHKG1
12
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8.5IGF1, PRKAA2, PRKAG2
13
Hide members
8.5PRKAG2, PRKAA2, IGF1
148.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1
15
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8.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1
168.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1
17
Hide members
8.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1
18
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7.7PHKA1, PHKA2, PHKB, PHKG2, PHKG1, IGF1
19
Hide members
7.7PHKA1, PHKA2, PHKB, PHKG2, PHKG1, IGF1
20
Hide members
7.4PHKA1, PHKA2, PHKB, PHKG2, PHKG1, PRKAG2
21
Translation Insulin regulation of translation
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6.5IGF1, PHKA1, PHKA2, PHKB, PHKG2, PHKG1

Compounds for genes affiliated with Phosphorylase Kinase Deficiency

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1metformin44 49 1111.1IGF1, PRKAA2
2aicar44 11 2411.0PRKAA2, IGF1
32-deoxyglucose44 119.8IGF1, PRKAA2
4Adenosine triphosphate11 249.6PRKAA2, NEK3, PHKG1, PHKG2
5adp44 28 2410.3PHKA2, PHKG2, PHKG1, NEK3, PRKAA2
6glycogen44 248.9PRKAA2, PRKAG2, NEK3, PHKG2, PHKB, PHKA2

GO Terms for genes affiliated with Phosphorylase Kinase Deficiency

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16Gene Ontology
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Cellular components related to Phosphorylase Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase complexGO:0059648.9PHKG1, PHKG2, PHKA2
2cytosolGO:0058297.4PHKA2, PHKB, PHKG2, PHKG1, PRKAG2, PRKAA2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of fatty acid biosynthetic processGO:0423049.4PRKAA2, PRKAG2
2glycogen biosynthetic processGO:0059789.4PHKG1, PHKG2
3carnitine shuttleGO:0068539.4PRKAG2, PRKAA2
4generation of precursor metabolites and energyGO:0060919.2PHKG2, PHKB, PHKA2, PHKA1
5positive regulation of glycolysisGO:0458219.1IGF1, PRKAA2
6protein phosphorylationGO:0064689.1PRKAA2, NEK3, PHKG2
7fatty acid biosynthetic processGO:0066339.0PRKAG2, PRKAA2
8glycogen metabolic processGO:0059779.0PHKA1, PHKB, PHKG2, PRKAG2
9glycogen catabolic processGO:0059808.8PHKG1, PHKG2, PHKB, PHKA2, PHKA1
10glucose metabolic processGO:0060068.7PHKA1, PHKA2, PHKB, PHKG2, PHKG1
11carbohydrate metabolic processGO:0059758.7PHKA1, PHKA2, PHKB, PHKG2, PHKG1
12small molecule metabolic processGO:0442817.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1, PRKAG2

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

idNameGO IDScoreTop Affiliating Genes
1tau-protein kinase activityGO:0503219.4PHKG1, PHKG2
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:0045539.4PHKA1, PHKA2, PHKB
3protein serine/threonine kinase activityGO:0046749.1PRKAA2, NEK3, PHKG2
4phosphorylase kinase activityGO:0046898.9PHKG1, PHKG2, PHKA2, PHKA1
5calmodulin bindingGO:0055168.6PHKA1, PHKA2, PHKB, PHKG2, PHKG1
6ATP bindingGO:0055247.6PHKG2, PHKG1, NEK3, PRKAG2, PRKAA2

Products for genes affiliated with Phosphorylase Kinase Deficiency

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet