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XLG
MCID: GLY065
MIFTS: 41

Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency (XLG)

Categories: Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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MalaCards integrated aliases for Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency:

Name: Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 58
Glycogenosis Due to Liver Phosphorylase Kinase Deficiency 58
Gsd Due to Liver Phosphorylase Kinase Deficiency 58
Glycogen Storage Disease Type Ixa 58
Glycogen Storage Disease Type Ixc 58
Glycogen Storage Disease Type 9a 58
Glycogen Storage Disease Type 9c 58
Glycogenosis Type Ixa 58
Glycogenosis Type Ixc 58
Glycogenosis Type 9a 58
Glycogenosis Type 9c 58
Gsd Type Ixa 58
Gsd Type Ixc 58
Gsd Type 9a 58
Gsd Type 9c 58
Xlg 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to liver phosphorylase kinase deficiency
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Liver diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


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Summaries for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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MalaCards based summary : Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency, also known as glycogenosis due to liver phosphorylase kinase deficiency, is related to glycogen storage disease ixa1 and glycogen storage disease ixa. An important gene associated with Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. Affiliated tissues include liver, skeletal muscle and testis, and related phenotypes are hepatomegaly and elevated hepatic transaminase

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Related Diseases for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Diseases related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ixa1 31.4 PHKA2-AS1 PHKA2
2 glycogen storage disease ixa 31.3 PHKG2 PHKA2-AS1 PHKA2
3 glycogen storage disease 30.1 PHKG2 PHKA2-AS1 PHKA2
4 glycogen storage disease viii 29.9 PHKA2-AS1 PHKA2
5 phosphorylase kinase deficiency 29.6 PHKG2 PHKA2-AS1 PHKA2
6 glycogen storage disease ixc 11.4
7 hypoglycemia 10.5
8 leptin deficiency or dysfunction 10.2
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
10 glycogen storage disease ix 9.7 PHKG2 PHKA2
11 glycogen storage disease, type ixd 9.6 PHKG2 PHKA2
12 glycogen storage disease ixb 9.6 PHKG2 PHKA2
13 glycogen storage disease ia 9.6 PHKG2 PHKA2

Graphical network of the top 20 diseases related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency:



Diseases related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency
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Symptoms & Phenotypes for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Human phenotypes related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
3 abnormal erythrocyte enzyme level 31 hallmark (90%) HP:0030272
4 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
5 hepatic fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0001395
6 hypercholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003124
7 fasting hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003162
8 hyperketonemia 58 31 frequent (33%) Frequent (79-30%) HP:0410175
9 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
10 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
11 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
12 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
13 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
14 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
15 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
16 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
17 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
18 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
19 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
20 polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0000147
21 cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001396
22 dysmenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0100607
23 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
24 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
25 progressive muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003323
26 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
27 oligomenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000876
28 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
29 myoglobinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002913
30 increased sarcoplasmic glycogen 58 31 occasional (7.5%) Occasional (29-5%) HP:0030232
31 splenomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001744
32 delayed speech and language development 58 31 very rare (1%) Very rare (<4-1%) HP:0000750
33 vomiting 58 31 very rare (1%) Very rare (<4-1%) HP:0002013
34 anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001903
35 osteoporosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000939
36 cirrhosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001394
37 esophageal varix 58 31 very rare (1%) Very rare (<4-1%) HP:0002040
38 lactic acidosis 58 31 very rare (1%) Very rare (<4-1%) HP:0003128
39 cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001638
40 diarrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0002014
41 renal tubular acidosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001947
42 increased body weight 58 31 very rare (1%) Very rare (<4-1%) HP:0004324
43 hepatocellular adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012028
44 nausea 58 31 very rare (1%) Very rare (<4-1%) HP:0002018
45 portal fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0006580
46 hypotonia 31 very rare (1%) HP:0001252
47 muscular hypotonia 58 Very rare (<4-1%)
48 hypoglycemia 58 Frequent (79-30%)
49 growth delay 58 Frequent (79-30%)
50 abnormal enzyme/coenzyme activity 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.62 PHKA2 PHKG2
2 Decreased viability GR00221-A-2 9.62 PHKA2 PHKG2
3 Decreased viability GR00221-A-3 9.62 PHKA2
4 Decreased viability GR00221-A-4 9.62 PHKA2
5 Decreased viability GR00342-S-1 9.62 PHKA2
6 Decreased viability GR00342-S-2 9.62 PHKA2
7 Decreased viability GR00342-S-3 9.62 PHKA2
8 Decreased viability GR00402-S-2 9.62 PHKG2
9 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.65 PHKG2
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Drugs & Therapeutics for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency

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Genetic Tests for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Anatomical Context for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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MalaCards organs/tissues related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency:

40
Liver, Skeletal Muscle, Testis
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Publications for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Articles related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency:

(show all 35)
# Title Authors PMID Year
1
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. 6
31508908 2019
2
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 6
28468868 2017
3
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. 6
28627441 2017
4
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
5
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. 6
27103379 2016
6
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. 6
25070466 2015
7
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 6
25266922 2014
8
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. 6
24389071 2014
9
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. 6
24055370 2013
10
Aggressive therapy improves cirrhosis in glycogen storage disease type IX. 6
23578772 2013
11
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 6
22899091 2013
12
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. 6
21911307 2011
13
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 6
21646031 2011
14
Phosphorylase Kinase Deficiency 6
21634085 2011
15
Glycogen storage disease type IX: High variability in clinical phenotype. 6
17689125 2007
16
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 6
12930917 2003
17
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. 6
12862311 2003
18
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) 6
10905889 2000
19
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. 6
10330341 1999
20
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. 6
9870210 1998
21
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. 6
9835437 1998
22
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. 6
9600238 1998
23
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. 6
9384616 1998
24
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. 6
8896567 1996
25
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. 6
8733133 1996
26
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). 6
8733134 1996
27
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. 6
7562285 1995
28
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. 6
7847371 1995
29
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. 6
7711737 1995
30
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). 6
7959740 1994
31
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. 6
2303074 1990
32
A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor. 6
2558039 1989
33
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. 6
6962066 1982
34
X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. 6
5306139 1969
35
A new variant of glycogen storage disease. Type IXc. 61
6952760 1982
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Variations for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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ClinVar genetic disease variations for Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency:

6 (show top 50) (show all 192)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHKG2 PHKG2, 1-BP INS Insertion Pathogenic 13625 GRCh37:
GRCh38:
2 PHKG2 NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) SNV Pathogenic 13626 rs137853588 GRCh37: 16:30767512-30767512
GRCh38: 16:30756191-30756191
3 PHKG2 NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) SNV Pathogenic 13628 rs137853590 GRCh37: 16:30762461-30762461
GRCh38: 16:30751140-30751140
4 PHKG2 NM_000294.3(PHKG2):c.277del (p.Leu93fs) Deletion Pathogenic 13629 rs1596680941 GRCh37: 16:30762873-30762873
GRCh38: 16:30751552-30751552
5 PHKG2 NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) SNV Pathogenic 13630 rs137853591 GRCh37: 16:30764755-30764755
GRCh38: 16:30753434-30753434
6 PHKG2 NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) SNV Pathogenic 13631 rs137853592 GRCh37: 16:30767717-30767717
GRCh38: 16:30756396-30756396
7 PHKG2 NM_000294.3(PHKG2):c.250del (p.Val84fs) Deletion Pathogenic 566399 rs1567260747 GRCh37: 16:30762580-30762580
GRCh38: 16:30751259-30751259
8 PHKG2 NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) Indel Pathogenic 538172 rs1555467557 GRCh37: 16:30767711-30767712
GRCh38: 16:30756390-30756391
9 PHKG2 NM_000294.3(PHKG2):c.316_317GT[1] (p.Val106_Phe107insTer) Microsatellite Pathogenic 538173 rs1555467052 GRCh37: 16:30762914-30762915
GRCh38: 16:30751593-30751594
10 PHKG2 NM_000294.3(PHKG2):c.783del (p.Ser262fs) Deletion Pathogenic 694642 rs1372753669 GRCh37: 16:30767822-30767822
GRCh38: 16:30756501-30756501
11 PHKG2 NM_000294.3(PHKG2):c.657del (p.Cys219fs) Deletion Pathogenic 803250 rs1596687555 GRCh37: 16:30767697-30767697
GRCh38: 16:30756376-30756376
12 PHKG2 NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter) SNV Pathogenic 953651 GRCh37: 16:30767785-30767785
GRCh38: 16:30756464-30756464
13 PHKG2 NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) SNV Pathogenic 998117 GRCh37: 16:30762560-30762560
GRCh38: 16:30751239-30751239
14 PHKG2 NM_000294.3(PHKG2):c.539del (p.Pro180fs) Deletion Pathogenic 998118 GRCh37: 16:30764860-30764860
GRCh38: 16:30753539-30753539
15 PHKG2 NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) SNV Pathogenic 998119 GRCh37: 16:30767589-30767589
GRCh38: 16:30756268-30756268
16 PHKA2 NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) SNV Pathogenic 10527 rs137852285 GRCh37: X:18919605-18919605
GRCh38: X:18901487-18901487
17 PHKA2 NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) SNV Pathogenic 10528 rs137852286 GRCh37: X:18926983-18926983
GRCh38: X:18908865-18908865
18 PHKA2 NM_000292.3(PHKA2):c.717+1G>T SNV Pathogenic 10529 rs587776731 GRCh37: X:18961827-18961827
GRCh38: X:18943709-18943709
19 PHKA2 NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) SNV Pathogenic 10530 rs137852287 GRCh37: X:18915417-18915417
GRCh38: X:18897299-18897299
20 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) SNV Pathogenic 10531 rs137852288 GRCh37: X:18911697-18911697
GRCh38: X:18893579-18893579
21 PHKA2 NM_000292.3(PHKA2):c.421_423del (p.Phe141del) Deletion Pathogenic 10532 rs587776732 GRCh37: X:18969253-18969255
GRCh38: X:18951135-18951137
22 PHKA2 NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) SNV Pathogenic 10534 rs137852289 GRCh37: X:18958135-18958135
GRCh38: X:18940017-18940017
23 PHKG2 NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) SNV Pathogenic 947470 GRCh37: 16:30760163-30760163
GRCh38: 16:30748842-30748842
24 PHKG2 NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) SNV Pathogenic 577568 rs1270523244 GRCh37: 16:30764875-30764875
GRCh38: 16:30753554-30753554
25 PHKG2 NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) SNV Pathogenic 13627 rs137853589 GRCh37: 16:30762915-30762915
GRCh38: 16:30751594-30751594
26 PHKA2 NM_000292.3(PHKA2):c.1794-8_1812del Deletion Pathogenic 526623 rs1556000892 GRCh37: X:18938301-18938327
GRCh38: X:18920183-18920209
27 PHKA2 NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) SNV Pathogenic 526624 rs1556007472 GRCh37: X:18954256-18954256
GRCh38: X:18936138-18936138
28 PHKA2 NM_000292.3(PHKA2):c.884G>A (p.Arg295His) SNV Pathogenic 208676 rs797044877 GRCh37: X:18958147-18958147
GRCh38: X:18940029-18940029
29 PHKA2 NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) SNV Pathogenic 575608 rs1569300538 GRCh37: X:18929007-18929007
GRCh38: X:18910889-18910889
30 PHKA2 NM_000292.3(PHKA2):c.2465del (p.Leu822fs) Deletion Pathogenic 578458 rs1569298646 GRCh37: X:18926070-18926070
GRCh38: X:18907952-18907952
31 PHKA2 NC_000023.11:g.(?_18920012)_(18920221_?)del Deletion Pathogenic 583617 GRCh37: X:18938130-18938339
GRCh38: X:18920012-18920221
32 PHKA2 NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) Deletion Pathogenic 568551 rs1569297379 GRCh37: X:18924637-18924647
GRCh38: X:18906519-18906529
33 PHKA2 NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) SNV Pathogenic 649460 rs1601739229 GRCh37: X:18943809-18943809
GRCh38: X:18925691-18925691
34 PHKA2 NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) SNV Pathogenic 655569 rs1601689006 GRCh37: X:18913261-18913261
GRCh38: X:18895143-18895143
35 PHKA2 NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) Duplication Pathogenic 694636 rs1601714299 GRCh37: X:18927010-18927011
GRCh38: X:18908892-18908893
36 PHKA2 NM_000292.3(PHKA2):c.918+1G>A SNV Pathogenic 694638 rs1601760689 GRCh37: X:18958112-18958112
GRCh38: X:18939994-18939994
37 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) SNV Pathogenic 803725 rs1601687244 GRCh37: X:18912462-18912462
GRCh38: X:18894344-18894344
38 PHKA2 NM_000292.3(PHKA2):c.718-2A>G SNV Pathogenic 694641 rs1601763099 GRCh37: X:18959795-18959795
GRCh38: X:18941677-18941677
39 PHKA2 NM_000292.3(PHKA2):c.1138-2A>G SNV Pathogenic 803728 rs1601748216 GRCh37: X:18949868-18949868
GRCh38: X:18931750-18931750
40 PHKA2 NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) Deletion Pathogenic 803730 rs1601776523 GRCh37: X:18969359-18969362
GRCh38: X:18951241-18951244
41 PHKA2 NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) SNV Pathogenic 807651 rs1601780766 GRCh37: X:18972374-18972374
GRCh38: X:18954256-18954256
42 PHKA2 NC_000023.11:g.(?_18929208)_(18983952_?)del Deletion Pathogenic 833058 GRCh37: X:18947326-19002070
GRCh38:
43 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter) SNV Pathogenic 845671 GRCh37: X:18912482-18912482
GRCh38: X:18894364-18894364
44 PHKA2 NM_000292.3(PHKA2):c.93del (p.Leu32fs) Deletion Pathogenic 933869 GRCh37: X:18972516-18972516
GRCh38: X:18954398-18954398
45 PHKA2 NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) SNV Pathogenic 947434 GRCh37: X:18949799-18949799
GRCh38: X:18931681-18931681
46 PHKA2 NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) SNV Pathogenic 10537 rs137852292 GRCh37: X:18969282-18969282
GRCh38: X:18951164-18951164
47 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) SNV Pathogenic 1028673 GRCh37: X:18912330-18912330
GRCh38: X:18894212-18894212
48 PHKA2 NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) SNV Pathogenic/Likely pathogenic 644261 rs1601781031 GRCh37: X:18972476-18972476
GRCh38: X:18954358-18954358
49 PHKA2 NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) SNV Likely pathogenic 593082 rs1569297427 GRCh37: X:18924673-18924673
GRCh38: X:18906555-18906555
50 PHKA2 NM_000292.3(PHKA2):c.285+2_285+5del Deletion Likely pathogenic 937363 GRCh37: X:18970607-18970610
GRCh38: X:18952489-18952492
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Expression for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Search GEO for disease gene expression data for Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency.
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Pathways for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Pathways related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Glycosaminoglycan metabolism 65
Show member pathways
 12.12 PHKG2 PHKA2
2
Glucose metabolism 65
Show member pathways
 11.96 PHKG2 PHKA2
3
ADP signalling through P2Y purinoceptor 12 65
Show member pathways
 11.76 PHKG2 PHKA2
4
Calcium signaling pathway 36
11.54 PHKG2 PHKA2
5
Glucagon signaling pathway 36
10.99 PHKG2 PHKA2
6
Glycogen Metabolism 1
10.18 PHKG2 PHKA2
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GO Terms for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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Cellular components related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylase kinase complex GO:0005964 8.62 PHKG2 PHKA2

Biological processes related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.26 PHKG2 PHKA2
2 generation of precursor metabolites and energy GO:0006091 9.16 PHKG2 PHKA2
3 glycogen metabolic process GO:0005977 8.96 PHKG2 PHKA2
4 glycogen catabolic process GO:0005980 8.62 PHKG2 PHKA2

Molecular functions related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.96 PHKG2 PHKA2
2 phosphorylase kinase activity GO:0004689 8.62 PHKG2 PHKA2
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Sources for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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