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
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? (22238410)
2012
2
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. (21911307)
2011
3
Muscle phosphorylase b kinase deficiency revisited. (20080404)
2010
4
Multiple voxel 1H MR spectroscopy of phosphorylase-b kinase deficient patients (GSD IXa) showing an accumulation of fat in the liver that resolves with aging. (17005290)
2006
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
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. (12862311)
2003
9
Phosphorylase b kinase deficiency]. (11596358)
2001
10
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. (10368461)
1999
11
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. (9384616)
1998
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
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
15
Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. (8944243)
1996
16
Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood]. (9019646)
1996
17
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. (7847371)
1995
18
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. (7562285)
1995
19
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. (8145916)
1994
20
Secondary loss of deoxyguanosine kinase activity in purine nucleoside phosphorylase deficient mice. (7918681)
1994
21
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. (7957405)
1994
22
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. (7874115)
1994
23
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. (8362811)
1993
24
Phosphorylase Kinase Deficiency (21634085)
1993
25
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. (8298647)
1993
26
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. (1674721)
1991
27
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency. (2387090)
1990
28
Adult phosphorylase b kinase deficiency. (2252364)
1990
29
Phosphorylase b kinase deficiency in man: a review. (2122111)
1990
30
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. (2303074)
1990
31
I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. (2602386)
1989
32
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency. (3148080)
1988
33
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. (3459948)
1986
34
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. (3987709)
1985
35
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. (6820425)
1982
36
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. (6285226)
1982
37
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (6962066)
1982
38
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. (6938920)
1981
39
Phosphorylase kinase deficiency and decreased fat accumulation in hybrid male mice (I X C3H). (7465553)
1980
40
Metabolic adaptation in phosphorylase kinase deficiency. Changes in metabolite concentrations during tetanic stimulation of mouse leg muscles. (6768356)
1980
41
X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. (7447922)
1980
42
Hepatic phosphorylase kinase deficiency: a survey of phosphorylase kinase activity in erythrocytes. (739734)
1978
43
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). (202960)
1977
44
The molecular basis of skeletal muscle phosphorylase kinase deficiency. (820556)
1976
45
Stimulation of glycogenolysis by beta adrenergic agonists in skeletal muscle of mice with the phosphorylase kinase deficiency mutation (I strain). (978457)
1976
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

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
Hide members
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
Hide members
8.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1
168.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1
17
Hide members
8.5PHKA1, PHKA2, PHKB, PHKG2, PHKG1
18
Hide members
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