XLG
MCID: GLY065
MIFTS: 38

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

Categories: Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


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

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 ixa and glycogen storage disease. An important gene associated with Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency is PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2), and among its related pathways/superpathways are fMLP Pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include liver, skeletal muscle and testis, and related phenotypes are hepatomegaly and elevated hepatic transaminase

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

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ixa 31.8 PHKG2 PHKA2
2 glycogen storage disease 30.3 PHKG2 PHKA2
3 phosphorylase kinase deficiency 29.7 PHKG2 PHKA2
4 glycogen storage disease ixc 11.6
5 glycogen storage disease ixa1 11.6
6 hypoglycemia 10.5
7 leptin deficiency or dysfunction 10.3
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
9 glycogen storage disease ix 9.6 PHKG2 PHKA2
10 glycogen storage disease, type ixd 9.5 PHKG2 PHKA2
11 glycogen storage disease ixb 9.2 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

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

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

58 31 (show all 31)
# 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 decreased liver function 58 31 hallmark (90%) Very frequent (99-80%) HP:0001410
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
6 cirrhosis 58 31 frequent (33%) Frequent (79-30%) HP:0001394
7 hepatic fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0001395
8 lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0003128
9 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
10 fasting hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003162
11 ketosis 58 31 frequent (33%) Frequent (79-30%) HP:0001946
12 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
13 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
14 hyperuricemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002149
15 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
16 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
17 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
18 esophageal varix 58 31 occasional (7.5%) Occasional (29-5%) HP:0002040
19 cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001396
20 hepatocellular adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012028
21 hypoglycemic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002173
22 fatigable weakness of skeletal muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030197
23 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
24 delayed speech and language development 58 31 very rare (1%) Very rare (<4-1%) HP:0000750
25 anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001903
26 delayed gross motor development 58 31 very rare (1%) Very rare (<4-1%) HP:0002194
27 infantile muscular hypotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0008947
28 muscular hypotonia 58 Occasional (29-5%)
29 hypoglycemia 58 Frequent (79-30%)
30 growth delay 58 Frequent (79-30%)
31 hyperlipidemia 58 Frequent (79-30%)

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

Drugs & Therapeutics for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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

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

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

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

40
Liver, Skeletal Muscle, Testis

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

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

(show all 14)
# Title Authors PMID Year
1
Phosphorylase Kinase Deficiency 6
21634085 2011
2
Glycogen storage disease type IX: High variability in clinical phenotype. 6
17689125 2007
3
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) 6
10905889 2000
4
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. 6
9384616 1998
5
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
6
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
7
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. 6
7562285 1995
8
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. 6
7847371 1995
9
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. 6
7711737 1995
10
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. 6
2303074 1990
11
A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor. 6
2558039 1989
12
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. 6
6962066 1982
13
X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. 6
5306139 1969
14
A new variant of glycogen storage disease. Type IXc. 61
6952760 1982

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

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

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHKG2 NM_000294.3(PHKG2):c.250del (p.Val84fs)deletion Pathogenic 566399 rs1567260747 16:30762580-30762580 16:30751259-30751259
2 PHKG2 NM_000294.3(PHKG2):c.316_317GT[1] (p.Val106_Phe107insTer)short repeat Pathogenic 538173 rs1555467052 16:30762914-30762915 16:30751593-30751594
3 PHKG2 NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter)indel Pathogenic 538172 rs1555467557 16:30767711-30767712 16:30756390-30756391
4 PHKG2 NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter)SNV Pathogenic 577568 rs1270523244 16:30764875-30764875 16:30753554-30753554
5 PHKG2 NM_000294.3(PHKG2):c.783del (p.Ser262fs)deletion Pathogenic 694642 16:30767822-30767822 16:30756501-30756501
6 PHKG2 NM_000294.3(PHKG2):c.657del (p.Cys219fs)deletion Pathogenic 803250 16:30767697-30767697 16:30756376-30756376
7 PHKG2 PHKG2, 1-BP INSinsertion Pathogenic 13625
8 PHKG2 NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu)SNV Pathogenic 13626 rs137853588 16:30767512-30767512 16:30756191-30756191
9 PHKG2 NM_000294.3(PHKG2):c.317T>A (p.Val106Glu)SNV Pathogenic 13627 rs137853589 16:30762915-30762915 16:30751594-30751594
10 PHKG2 NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)SNV Pathogenic 13628 rs137853590 16:30762461-30762461 16:30751140-30751140
11 PHKG2 NM_000294.3(PHKG2):c.277del (p.Leu93fs)deletion Pathogenic 13629 16:30762873-30762873 16:30751552-30751552
12 PHKG2 NM_000294.3(PHKG2):c.433C>T (p.His145Tyr)SNV Pathogenic 13630 rs137853591 16:30764755-30764755 16:30753434-30753434
13 PHKG2 NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg)SNV Pathogenic 13631 rs137853592 16:30767717-30767717 16:30756396-30756396
14 PHKG2 NM_000294.3(PHKG2):c.661G>A (p.Val221Met)SNV Likely pathogenic 694643 16:30767701-30767701 16:30756380-30756380
15 PHKG2 NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)SNV Likely pathogenic 803251 16:30768267-30768267 16:30756946-30756946
16 PHKG2 NM_000294.3(PHKG2):c.393G>A (p.Arg131=)SNV Conflicting interpretations of pathogenicity 318937 rs55751949 16:30764715-30764715 16:30753394-30753394
17 PHKG2 NM_000294.3(PHKG2):c.318G>T (p.Val106=)SNV Conflicting interpretations of pathogenicity 318935 rs199743139 16:30762916-30762916 16:30751595-30751595
18 PHKG2 NM_000294.3(PHKG2):c.324C>T (p.Asp108=)SNV Conflicting interpretations of pathogenicity 318936 rs138416154 16:30762922-30762922 16:30751601-30751601
19 PHKG2 NM_000294.3(PHKG2):c.360A>G (p.Thr120=)SNV Conflicting interpretations of pathogenicity 388646 rs149163610 16:30764586-30764586 16:30753265-30753265
20 PHKG2 NM_000294.3(PHKG2):c.921G>T (p.Arg307=)SNV Conflicting interpretations of pathogenicity 386281 rs201113602 16:30768030-30768030 16:30756709-30756709
21 PHKG2 NM_000294.3(PHKG2):c.288C>T (p.Ser96=)SNV Conflicting interpretations of pathogenicity 255783 rs56029513 16:30762886-30762886 16:30751565-30751565
22 PHKG2 NM_000294.3(PHKG2):c.585G>A (p.Ala195=)SNV Conflicting interpretations of pathogenicity 255785 rs187710792 16:30767531-30767531 16:30756210-30756210
23 PHKG2 NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)SNV Conflicting interpretations of pathogenicity 255780 rs61731628 16:30768334-30768334 16:30757013-30757013
24 PHKG2 NM_000294.3(PHKG2):c.-28G>TSNV Conflicting interpretations of pathogenicity 318930 rs556945561 16:30759802-30759802 16:30748481-30748481
25 PHKG2 NM_000294.3(PHKG2):c.21G>A (p.Pro7=)SNV Uncertain significance 318931 rs200427925 16:30760162-30760162 16:30748841-30748841
26 PHKG2 NM_000294.3(PHKG2):c.448G>A (p.Val150Met)SNV Uncertain significance 318938 rs886051911 16:30764770-30764770 16:30753449-30753449
27 PHKG2 NM_000294.3(PHKG2):c.556+5G>TSNV Uncertain significance 318940 rs369684098 16:30764883-30764883 16:30753562-30753562
28 PHKG2 NM_000294.3(PHKG2):c.95+11G>ASNV Uncertain significance 318933 rs886051910 16:30760247-30760247 16:30748926-30748926
29 PHKG2 NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr)SNV Uncertain significance 318942 rs886051914 16:30768377-30768377 16:30757056-30757056
30 PHKG2 NM_000294.3(PHKG2):c.928-9C>GSNV Uncertain significance 318941 rs886051913 16:30768116-30768116 16:30756795-30756795
31 PHKG2 NM_001172432.1(PHKG2):c.-106G>ASNV Uncertain significance 318928 rs879382458 16:30759724-30759724 16:30748403-30748403
32 PHKG2 NM_000294.3(PHKG2):c.271+14C>TSNV Uncertain significance 318934 rs572169140 16:30762616-30762616 16:30751295-30751295
33 PHKG2 NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)SNV Uncertain significance 840479 16:30768155-30768155 16:30756834-30756834
34 PHKG2 NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)SNV Uncertain significance 834218 16:30768156-30768156 16:30756835-30756835
35 PHKG2 NM_001172432.1(PHKG2):c.-162C>TSNV Uncertain significance 885327 16:30759668-30759668 16:30748347-30748347
36 PHKG2 NM_001172432.1(PHKG2):c.-118G>ASNV Uncertain significance 886234 16:30759712-30759712 16:30748391-30748391
37 PHKG2 NM_000294.3(PHKG2):c.-76G>CSNV Uncertain significance 886235 16:30759754-30759754 16:30748433-30748433
38 PHKG2 NM_000294.3(PHKG2):c.-3A>GSNV Uncertain significance 886236 16:30760139-30760139 16:30748818-30748818
39 PHKG2 NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)SNV Uncertain significance 887238 16:30762470-30762470 16:30751149-30751149
40 PHKG2 NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)SNV Uncertain significance 884269 16:30767554-30767554 16:30756233-30756233
41 PHKG2 NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)SNV Uncertain significance 884270 16:30768251-30768251 16:30756930-30756930
42 PHKG2 NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)SNV Uncertain significance 884271 16:30768274-30768274 16:30756953-30756953
43 PHKG2 NM_000294.3(PHKG2):c.*22C>TSNV Uncertain significance 886306 16:30768440-30768440 16:30757119-30757119
44 PHKG2 NM_000294.3(PHKG2):c.*47G>ASNV Uncertain significance 886307 16:30768465-30768465 16:30757144-30757144
45 PHKG2 NM_000294.3(PHKG2):c.556+11C>GSNV Uncertain significance 888492 16:30764889-30764889 16:30753568-30753568
46 PHKG2 NM_000294.3(PHKG2):c.96-7C>GSNV Uncertain significance 887237 16:30762420-30762420 16:30751099-30751099
47 PHKG2 NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)SNV Uncertain significance 573174 rs145390070 16:30768029-30768029 16:30756708-30756708
48 PHKG2 NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr)SNV Uncertain significance 538171 rs535265672 16:30762584-30762584 16:30751263-30751263
49 PHKG2 NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)SNV Uncertain significance 470728 rs151033581 16:30768248-30768248 16:30756927-30756927
50 PHKG2 NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys)SNV Uncertain significance 538170 rs753644625 16:30762545-30762545 16:30751224-30751224

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

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

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

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
Show member pathways
12.28 PHKG2 PHKA2
2
Show member pathways
12.18 PHKG2 PHKA2
3
Show member pathways
12.12 PHKG2 PHKA2
4
Show member pathways
11.9 PHKG2 PHKA2
5
Show member pathways
11.76 PHKG2 PHKA2
6
Show member pathways
11.46 PHKG2 PHKA2
7 10.98 PHKG2 PHKA2
8 10.18 PHKG2 PHKA2

GO Terms for Glycogen Storage Disease Due to Liver Phosphorylase Kinase...

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 protein phosphorylation GO:0006468 9.32 PHKG2 PHKA2
2 carbohydrate metabolic process GO:0005975 9.26 PHKG2 PHKA2
3 generation of precursor metabolites and energy GO:0006091 9.16 PHKG2 PHKA2
4 glycogen metabolic process GO:0005977 8.96 PHKG2 PHKA2
5 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....