GSDIX
MCID: PHS018
MIFTS: 37

Phosphorylase Kinase Deficiency (GSDIX)

Categories: Liver diseases, Muscle diseases

Aliases & Classifications for Phosphorylase Kinase Deficiency

MalaCards integrated aliases for Phosphorylase Kinase Deficiency:

Name: Phosphorylase Kinase Deficiency 25 43
Glycogen Storage Disease Type Ix 25 43 36 6
Phosphorylase B Kinase Deficiency 25 43
Phk Deficiency 25 43
Gsdix 25 43
Deficiency of Phosphorylase Kinase 70
Glycogen Storage Disease, Type Ix 70
Gsd Ix 43

Classifications:



External Ids:

KEGG 36 H01948
UMLS 70 C0268147 C1291390

Summaries for Phosphorylase Kinase Deficiency

MedlinePlus Genetics : 43 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.When GSD IX affects the liver, the signs and symptoms typically begin in early childhood. The initial features are usually an enlarged liver (hepatomegaly) and slow growth. Affected children are often shorter than normal. During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars are unavailable. Affected children may have delayed development of motor skills, such as sitting, standing, or walking, and some have mild muscle weakness. Puberty is delayed in some adolescents with GSD IX. In the form of the condition that affects the liver, the signs and symptoms usually improve with age. Typically, individuals catch up developmentally, and adults reach normal height. However, some affected individuals have a buildup of scar tissue (fibrosis) in the liver, which can rarely progress to irreversible liver disease (cirrhosis).GSD IX can affect muscle tissue, although this form of the condition is very rare and not well understood. The features of this form of the condition can appear anytime from childhood to adulthood. Affected individuals may experience fatigue, muscle pain, and cramps, especially during exercise (exercise intolerance). Most affected individuals have muscle weakness that worsens over time. GSD IX can cause myoglobinuria, which occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin that is excreted in the urine. Myoglobinuria can cause the urine to be red or brown.In a small number of people with GSD IX, the liver and muscles are both affected. These individuals develop a combination of the features described above, although the muscle problems are usually mild.

MalaCards based summary : Phosphorylase Kinase Deficiency, also known as glycogen storage disease type ix, is related to glycogen storage disease viii and glycogen storage disease due to liver phosphorylase kinase deficiency. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (Phosphorylase Kinase Regulatory Subunit Beta), and among its related pathways/superpathways are Insulin signaling pathway and Glucagon signaling pathway. Affiliated tissues include liver, skeletal muscle and testis, and related phenotypes are Decreased viability and Decreased viability

KEGG : 36 Glycogen storage disease type IX (GSD-IX), also known as Phosphorylase kinase deficiency, is a disorder of glycogen metabolism. The liver phosphorylase kinase is a heterotetramer that is composed of four copies each of alpha, beta, gamma, and delta (calmodulin) subunits. In liver, the alpha, beta, and gamma subunits are encoded by the PHKA2 gene, the PHKB gene, and PHKG2 gene respectively. Mutation within these genes has been shown to result in GSD type IX. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. GSD IXd, also known as X-linked muscle glycogenosis, is caused by mutation in the PHKA1 gene, which encodes the alpha subunit of muscle phosphorylase kinase. The typical clinical signs of GSD IXd are exercise intolerance, often combined with cramps, myalgia, weakness or myoglobinuria.

Wikipedia : 73 Phosphorylase kinase (PhK) is a serine/threonine-specific protein kinase which activates glycogen... more...

GeneReviews: NBK55061

Related Diseases for Phosphorylase Kinase Deficiency

Diseases related to Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease viii 31.8 PHKA2-AS1 PHKA2 PHKA1
2 glycogen storage disease due to liver phosphorylase kinase deficiency 31.7 PHKG2 PHKA2-AS1 PHKA2
3 glycogen storage disease, type ixd 31.5 PHKG2 PHKG1 PHKB PHKA2 PHKA1
4 glycogen storage disease ixb 31.1 PHKG2 PHKG1 PHKB PHKA2 PHKA1 LOC112449713
5 glycogen storage disease ix 30.9 PHKG2 PHKG1 PHKB PHKA2 PHKA1
6 glycogen storage disease ia 29.7 PHKG2 PHKA2 NEK3
7 glycogen storage disease 29.1 PRKAG2 PRKAA2 PHKG2 PHKB PHKA2-AS1 PHKA2
8 glycogen storage disease of heart, lethal congenital 11.5
9 glycogen storage disease due to phosphorylase kinase deficiency 11.5
10 glycogen storage disease ixa1 11.3
11 muscular phosphorylase kinase deficiency 11.3
12 glycogen storage disease vi 11.3
13 hypoglycemia 10.3
14 myopathy 10.3
15 metabolic myopathy 10.2
16 glycogen storage disease ixc 10.2
17 myoglobinuria 10.2
18 hypertrophic cardiomyopathy 10.2
19 hypertriglyceridemia, familial 10.1
20 fatty liver disease, nonalcoholic 1 10.1
21 chromosome 16p11.2 deletion syndrome 10.1
22 non-alcoholic fatty liver disease 10.1
23 hyperuricemia 10.1
24 fatty liver disease 10.1
25 growth hormone deficiency 10.1
26 atrial standstill 1 10.1
27 liver cirrhosis 10.1
28 muscular glycogenosis 10.1
29 fanconi-bickel syndrome 10.0
30 rickets 10.0
31 fanconi syndrome 10.0
32 respiratory failure 10.0
33 renal tubular acidosis 10.0
34 fasting hypoglycemia 10.0
35 floppy infant syndrome 10.0
36 congenital amyoplasia 10.0
37 muscle hypertrophy 10.0
38 cardiac conduction defect 10.0
39 wolff-parkinson-white syndrome 10.0
40 insulin-like growth factor i 10.0
41 danon disease 10.0
42 cardiomyopathy, infantile hypertrophic 10.0
43 mitochondrial complex v deficiency, mitochondrial type 1 10.0
44 cardiomyopathy, familial hypertrophic, 6 10.0
45 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
46 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
47 aspiration pneumonia 10.0
48 metabolic acidosis 10.0
49 portal hypertension 10.0
50 tetanus 10.0

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



Diseases related to Phosphorylase Kinase Deficiency

Symptoms & Phenotypes for Phosphorylase Kinase Deficiency

GenomeRNAi Phenotypes related to Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.29 NEK3 PHKA2 PHKG2 PRKAA2 PRKAG2
2 Decreased viability GR00221-A-2 10.29 PHKA2 PHKG2 PRKAA2 PRKAG2 PHKB PHKG1
3 Decreased viability GR00221-A-3 10.29 PHKA2 PRKAA2 PHKB PHKG1 PHKA1
4 Decreased viability GR00221-A-4 10.29 NEK3 PHKA2 PRKAA2 PHKB PHKG1
5 Decreased viability GR00249-S 10.29 PRKAA2
6 Decreased viability GR00342-S-1 10.29 PHKA2 PRKAA2
7 Decreased viability GR00342-S-2 10.29 PHKA2
8 Decreased viability GR00342-S-3 10.29 PHKA2
9 Decreased viability GR00402-S-2 10.29 PHKG2 PRKAA2

Drugs & Therapeutics for Phosphorylase Kinase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX Recruiting NCT04454216

Search NIH Clinical Center for Phosphorylase Kinase Deficiency

Genetic Tests for Phosphorylase Kinase Deficiency

Anatomical Context for Phosphorylase Kinase Deficiency

MalaCards organs/tissues related to Phosphorylase Kinase Deficiency:

40
Liver, Skeletal Muscle, Testis

Publications for Phosphorylase Kinase Deficiency

Articles related to Phosphorylase Kinase Deficiency:

(show top 50) (show all 128)
# Title Authors PMID Year
1
Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. 61 25
28085675 2017
2
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. 61 25
27103379 2016
3
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. 25 61
24389071 2014
4
Aggressive therapy improves cirrhosis in glycogen storage disease type IX. 25 61
23578772 2013
5
Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. 61 25
21857251 2012
6
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? 25 61
22238410 2012
7
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase. 61 25
18950708 2008
8
Glycogen storage disease type IX: High variability in clinical phenotype. 25 61
17689125 2007
9
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. 61 25
15637709 2005
10
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. 61 25
16151901 2005
11
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 61 25
12930917 2003
12
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. 25 61
9384616 1998
13
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). 25 61
9326319 1997
14
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). 61 25
9245685 1997
15
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). 25 61
9215682 1997
16
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). 61 25
8733134 1996
17
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. 61 25
7874115 1994
18
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). 61 25
7959740 1994
19
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. 61 25
8298647 1993
20
Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience. 61 25
1645631 1991
21
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. 25 61
2303074 1990
22
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. 25
28627441 2017
23
A new variant in PHKA2 is associated with glycogen storage disease type IXa. 25
28116244 2017
24
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency. 25
28283841 2017
25
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 25
27629047 2016
26
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. 25
26944031 2016
27
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. 25
25070466 2015
28
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 25
25266922 2014
29
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. 25
24055370 2013
30
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 25
22899091 2013
31
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 25
21646031 2011
32
Glycogen storage disease type III diagnosis and management guidelines. 25
20631546 2010
33
Muscle phosphorylase b kinase deficiency revisited. 25
20080404 2010
34
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? 25
18401027 2008
35
Assessment and management of hypoglycemia in children and adolescents with diabetes. 25
18416698 2008
36
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. 25
12825073 2003
37
Adult-onset exercise intolerance due to phosphorylase b kinase deficiency. 25
11386811 2001
38
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) 25
10905889 2000
39
Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. 25
10487978 1999
40
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. 25
10330341 1999
41
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. 25
9835437 1998
42
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. 25
9731190 1998
43
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. 25
9600238 1998
44
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). 25
9402963 1997
45
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. 25
8896567 1996
46
Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). 25
8681948 1996
47
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. 25
8733133 1996
48
The hepatic glycogen storage diseases--problems beyond childhood. 25
7494404 1995
49
X-linked liver glycogenosis: localization and isolation of a candidate gene. 25
8518797 1993
50
Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing. 25
1874721 1991

Variations for Phosphorylase Kinase Deficiency

ClinVar genetic disease variations for Phosphorylase Kinase Deficiency:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHKB NM_000293.3(PHKB):c.3144+12dup Duplication Uncertain significance 319361 rs1555500966 GRCh37: 16:47732510-47732511
GRCh38: 16:47698599-47698600
2 PHKB NM_000293.3(PHKB):c.*1001del Deletion Uncertain significance 319381 rs775113534 GRCh37: 16:47734278-47734278
GRCh38: 16:47700367-47700367
3 PHKB NM_000293.3(PHKB):c.3144+32_3144+34dup Duplication Uncertain significance 319364 rs5816579 GRCh37: 16:47732512-47732513
GRCh38: 16:47698601-47698602
4 PHKB NM_000293.3(PHKB):c.*1311dup Duplication Uncertain significance 319384 rs886052031 GRCh37: 16:47734578-47734579
GRCh38: 16:47700667-47700668
5 PHKA1 NM_002637.4(PHKA1):c.*1241_*1242GT[14] Microsatellite Uncertain significance 368634 rs111688568 GRCh37: X:71799587-71799588
GRCh38: X:72579737-72579738
6 PHKB NM_000293.3(PHKB):c.3144+12_3144+13insT Insertion Uncertain significance 319362 rs757614728 GRCh37: 16:47732511-47732512
GRCh38: 16:47698600-47698601
7 PHKB NM_000293.3(PHKB):c.*982del Deletion Uncertain significance 319379 rs886052029 GRCh37: 16:47734259-47734259
GRCh38: 16:47700348-47700348
8 LOC112449713 , PHKB NM_000293.3(PHKB):c.204C>T (p.Thr68=) SNV Uncertain significance 319328 rs759882590 GRCh37: 16:47533704-47533704
GRCh38: 16:47499793-47499793
9 PHKA1 NM_002637.4(PHKA1):c.*1241_*1242GT[11] Microsatellite Uncertain significance 368635 rs111688568 GRCh37: X:71799588-71799589
GRCh38: X:72579738-72579739
10 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*3879A>G SNV Uncertain significance 318951 rs886051921 GRCh37: 16:30772297-30772297
GRCh38: 16:30760976-30760976
11 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*2154G>A SNV Uncertain significance 318948 rs886051918 GRCh37: 16:30770572-30770572
GRCh38: 16:30759251-30759251
12 PHKG2 NM_000294.3(PHKG2):c.556+4_556+5dup Duplication Uncertain significance 318939 rs767789467 GRCh37: 16:30764880-30764881
GRCh38: 16:30753559-30753560
13 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*211C>T SNV Uncertain significance 318943 rs886051915 GRCh37: 16:30768629-30768629
GRCh38: 16:30757308-30757308
14 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*846A>G SNV Uncertain significance 318946 rs886051917 GRCh37: 16:30769264-30769264
GRCh38: 16:30757943-30757943
15 PHKG2 NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) SNV Uncertain significance 318932 rs777228104 GRCh37: 16:30760224-30760224
GRCh38: 16:30748903-30748903
16 PHKG2 NM_000294.3(PHKG2):c.-70C>T SNV Uncertain significance 318929 rs879456688 GRCh37: 16:30759760-30759760
GRCh38: 16:30748439-30748439
17 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*3988T>C SNV Uncertain significance 318952 rs886051922 GRCh37: 16:30772406-30772406
GRCh38: 16:30761085-30761085
18 PHKB NM_000293.3(PHKB):c.*610_*611TA[1] Microsatellite Uncertain significance 319375 rs201839105 GRCh37: 16:47733886-47733887
GRCh38: 16:47699975-47699976
19 PHKB NM_000293.3(PHKB):c.77-7del Deletion Uncertain significance 319327 rs754758968 GRCh37: 16:47531303-47531303
GRCh38: 16:47497392-47497392
20 PHKB NM_000293.3(PHKB):c.*1000del Deletion Uncertain significance 319380 rs11299370 GRCh37: 16:47734260-47734260
GRCh38: 16:47700349-47700349
21 PHKB NM_000293.3(PHKB):c.*358_*360del Deletion Uncertain significance 319372 rs886052026 GRCh37: 16:47733634-47733636
GRCh38: 16:47699723-47699725
22 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*2585G>A SNV Uncertain significance 318950 rs886051920 GRCh37: 16:30771003-30771003
GRCh38: 16:30759682-30759682
23 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*1135C>T SNV Uncertain significance 318947 rs371856479 GRCh37: 16:30769553-30769553
GRCh38: 16:30758232-30758232
24 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*546C>T SNV Uncertain significance 318944 rs768683366 GRCh37: 16:30768964-30768964
GRCh38: 16:30757643-30757643
25 PHKB NM_000293.3(PHKB):c.2453_2455AAG[2] (p.Glu820del) Microsatellite Likely benign 257176 rs532057230 GRCh37: 16:47703150-47703152
GRCh38: 16:47669239-47669241
26 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*590G>A SNV Likely benign 318945 rs886051916 GRCh37: 16:30769008-30769008
GRCh38: 16:30757687-30757687
27 CCDC189 , PHKG2 NM_000294.3(PHKG2):c.*2539T>C SNV Likely benign 318949 rs886051919 GRCh37: 16:30770957-30770957
GRCh38: 16:30759636-30759636
28 PHKA1 NM_002637.4(PHKA1):c.*625_*626CT[2] Microsatellite Benign 368638 rs3070316 GRCh37: X:71800222-71800223
GRCh38: X:72580372-72580373
29 PHKB NM_000293.3(PHKB):c.3144+34dup Duplication Benign 319363 rs5816579 GRCh37: 16:47732512-47732513
GRCh38: 16:47698601-47698602
30 PHKA1 NM_002637.4(PHKA1):c.*1241_*1242GT[13] Microsatellite Benign 368633 rs111688568 GRCh37: X:71799587-71799588
GRCh38: X:72579737-72579738
31 PHKA2 NM_000292.3(PHKA2):c.2137+5G>A SNV not provided 440944 rs372314504 GRCh37: X:18936794-18936794
GRCh38: X:18918676-18918676

Expression for Phosphorylase Kinase Deficiency

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

Pathways for Phosphorylase Kinase Deficiency

Pathways related to Phosphorylase Kinase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Insulin signaling pathway hsa04910
2 Glucagon signaling pathway hsa04922

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 PHKG2 PHKG1 PHKB PHKA2 PHKA1
2
Show member pathways
12.52 PHKG2 PHKG1 PHKB PHKA2 PHKA1
3
Show member pathways
12.47 PRKAG2 PRKAA2 PHKG2 PHKG1 PHKB PHKA2
4
Show member pathways
12.35 PHKG2 PHKG1 PHKB PHKA2 PHKA1
5
Show member pathways
12.26 PHKG2 PHKG1 PHKA2 PHKA1
6 12.03 PHKG2 PHKG1 PHKB PHKA2 PHKA1
7 11.55 PHKG2 PHKG1 PHKB
8 11.33 PRKAG2 PRKAA2
9 11.24 PRKAG2 PRKAA2
10 11.2 PRKAG2 PRKAA2 PHKG2 PHKG1 PHKB PHKA2
11
Show member pathways
11.14 PRKAG2 PRKAA2
12 11.05 PRKAG2 PRKAA2
13 10.91 PHKG2 PHKG1 PHKB PHKA2 PHKA1
14 10.52 PRKAG2 PRKAA2

GO Terms for Phosphorylase Kinase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylase kinase complex GO:0005964 9.02 PHKG2 PHKG1 PHKB PHKA2 PHKA1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.77 PRKAG2 PRKAA2 PHKG2 PHKG1 NEK3
2 protein phosphorylation GO:0006468 9.76 PRKAG2 PRKAA2 PHKG2 PHKG1 PHKB PHKA2
3 carbohydrate metabolic process GO:0005975 9.72 PHKG2 PHKG1 PHKB PHKA2 PHKA1
4 generation of precursor metabolites and energy GO:0006091 9.56 PHKG2 PHKB PHKA2 PHKA1
5 cellular response to glucose starvation GO:0042149 9.49 PRKAG2 PRKAA2
6 sterol biosynthetic process GO:0016126 9.48 PRKAG2 PRKAA2
7 glycogen biosynthetic process GO:0005978 9.46 PHKG2 PHKG1
8 carnitine shuttle GO:0006853 9.43 PRKAG2 PRKAA2
9 regulation of fatty acid biosynthetic process GO:0042304 9.4 PRKAG2 PRKAA2
10 glycogen catabolic process GO:0005980 9.35 PHKG2 PHKG1 PHKB PHKA2 PHKA1
11 glycogen metabolic process GO:0005977 9.1 PRKAG2 PHKG2 PHKG1 PHKB PHKA2 PHKA1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.83 PRKAG2 PRKAA2 PHKG2 PHKG1 NEK3
2 protein kinase activity GO:0004672 9.71 PRKAA2 PHKG2 PHKG1 NEK3
3 protein serine/threonine kinase activity GO:0004674 9.62 PRKAA2 PHKG2 PHKG1 NEK3
4 kinase activity GO:0016301 9.55 PRKAG2 PRKAA2 PHKG2 PHKG1 NEK3
5 tau-protein kinase activity GO:0050321 9.37 PHKG2 PHKG1
6 calmodulin binding GO:0005516 9.35 PHKG2 PHKG1 PHKB PHKA2 PHKA1
7 AMP-activated protein kinase activity GO:0004679 9.26 PRKAG2 PRKAA2
8 phosphorylase kinase activity GO:0004689 8.92 PHKG2 PHKG1 PHKA2 PHKA1

Sources for Phosphorylase Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....