MCID: PHS018
MIFTS: 39

Phosphorylase Kinase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Phosphorylase Kinase Deficiency

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Aliases & Descriptions for Phosphorylase Kinase Deficiency:

Name: Phosphorylase Kinase Deficiency 21 22 23
Phosphorylase B Kinase Deficiency 21 22 23
Glycogen Storage Disease Type Ix 21 22 23
Phk Deficiency 21 22 23
 
Gsdix 21 22 23
Gsd Ix 22 23
Deficiency of Phosphorylase Kinase 65
Glycogen Storage Disease, Type Ix 65

Classifications:



External Ids:

UMLS65 C0268147, C1291390

Summaries for Phosphorylase Kinase Deficiency

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Genetics Home Reference:23 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 muscular phosphorylase kinase deficiency and phosphorylase kinase deficiency of liver and muscle, autosomal recessive. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (Phosphorylase Kinase Beta Subunit), and among its related pathways are Circadian rhythm and Metformin Pathway, Pharmacodynamics. Affiliated tissues include liver, skeletal muscle and heart.

GeneReviews summary for NBK55061

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7004

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

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 Deficiency22

Anatomical Context for Phosphorylase Kinase Deficiency

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MalaCards organs/tissues related to Phosphorylase Kinase Deficiency:

33
Liver, Skeletal muscle, Heart, Neutrophil, Endothelial, T cells, Myeloid

Animal Models for Phosphorylase Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Phosphorylase Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Phosphorylase Kinase Deficiency

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Articles related to Phosphorylase Kinase Deficiency:

(show top 50)    (show all 58)
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
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
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 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4PRKAA2, PRKAG2
29.4PRKAA2, PRKAG2
39.4PRKAA2, PRKAG2
49.4PRKAA2, PRKAG2
59.4PRKAA2, PRKAG2
69.4PRKAA2, PRKAG2
79.4PRKAA2, PRKAG2
89.2PHKB, PHKG1, PHKG2
9
Show member pathways
8.6PHKA1, PHKA2, PHKG1, PHKG2
108.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
118.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
12
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
13
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
14
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
15
Show member pathways
8.3PHKA1, PHKA2, PHKB, PHKG1, PHKG2
16
Show member pathways
7.2PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2
17
Show member pathways
7.2PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2
187.2PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2

GO Terms for genes affiliated with Phosphorylase Kinase Deficiency

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of fatty acid biosynthetic processGO:004230410.1PRKAA2, PRKAG2
2cell cycle arrestGO:00070509.9PRKAA2, PRKAG2
3glycogen catabolic processGO:00059809.9PHKA1, PHKA2
4regulation of signal transduction by p53 class mediatorGO:19017969.8PRKAA2, PRKAG2
5energy reserve metabolic processGO:00061129.7PRKAA2, PRKAG2
6generation of precursor metabolites and energyGO:00060919.3PHKA1, PHKA2, PHKB, PHKG2
7protein phosphorylationGO:00064688.6NEK3, PRKAA2, PRKAG2
8glucose metabolic processGO:00060068.0PHKA1, PHKA2, PHKB, PHKG1, PHKG2
9small molecule metabolic processGO:00442817.1PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAA2

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activityGO:00046748.9PHKG1, PHKG2, PRKAA2

Sources for Phosphorylase Kinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet