MCID: GLY065
MIFTS: 25

Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency

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 59
Glycogenosis Due to Liver Phosphorylase Kinase Deficiency 59
Gsd Due to Liver Phosphorylase Kinase Deficiency 59
Glycogen Storage Disease Type Ixa 59
Glycogen Storage Disease Type Ixc 59
Glycogen Storage Disease Type 9a 59
Glycogen Storage Disease Type 9c 59
Glycogenosis Type Ixa 59
Glycogenosis Type Ixc 59
Glycogenosis Type 9a 59
Glycogenosis Type 9c 59
Gsd Type Ixa 59
Gsd Type Ixc 59
Gsd Type 9a 59
Gsd Type 9c 59
Xlg 59

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Orphanet 59 ORPHA264580
UMLS via Orphanet 74 C2751643
ICD10 via Orphanet 34 E74.0

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 ixc and glycogen storage disease ixa. 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, and related phenotypes are Decreased viability and Decreased viability

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:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ixc 11.3
2 glycogen storage disease ixa 11.3
3 glycogen storage disease ixa1 11.3
4 phosphorylase kinase deficiency 9.2 PHKA2 PHKG2
5 glycogen storage disease 9.0 PHKA2 PHKG2

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...

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 9.66 PHKG2 PHKA2
2 Decreased viability GR00221-A-2 9.66 PHKA2 PHKG2
3 Decreased viability GR00221-A-3 9.66 PHKA2
4 Decreased viability GR00221-A-4 9.66 PHKA2
5 Decreased viability GR00342-S-1 9.66 PHKA2
6 Decreased viability GR00342-S-2 9.66 PHKA2
7 Decreased viability GR00342-S-3 9.66 PHKA2
8 Decreased viability GR00402-S-2 9.66 PHKG2 PHKA2
9 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.96 PHKA2 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:

41
Liver

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

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

# Title Authors Year
1
A new variant in PHKA2 is associated with glycogen storage disease type IXa. ( 28116244 )
2017
2
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. ( 28627441 )
2017
3
Bariatric surgery is not contraindicated in obese patients suffering from glycogen storage disease type IXa. A case report with follow-up at three years. ( 25194605 )
2014

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 all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHKG2 PHKG2, 1-BP INS insertion Pathogenic
2 PHKG2 NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu) single nucleotide variant Pathogenic rs137853588 GRCh37 Chromosome 16, 30767512: 30767512
3 PHKG2 NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu) single nucleotide variant Pathogenic rs137853588 GRCh38 Chromosome 16, 30756191: 30756191
4 PHKG2 NM_000294.2(PHKG2): c.317T> A (p.Val106Glu) single nucleotide variant Pathogenic rs137853589 GRCh37 Chromosome 16, 30762915: 30762915
5 PHKG2 NM_000294.2(PHKG2): c.317T> A (p.Val106Glu) single nucleotide variant Pathogenic rs137853589 GRCh38 Chromosome 16, 30751594: 30751594
6 PHKG2 NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic rs137853590 GRCh37 Chromosome 16, 30762461: 30762461
7 PHKG2 NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic rs137853590 GRCh38 Chromosome 16, 30751140: 30751140
8 PHKG2 PHKG2, 1-BP DEL, 277C deletion Pathogenic
9 PHKG2 NM_000294.2(PHKG2): c.433C> T (p.His145Tyr) single nucleotide variant Pathogenic rs137853591 GRCh37 Chromosome 16, 30764755: 30764755
10 PHKG2 NM_000294.2(PHKG2): c.433C> T (p.His145Tyr) single nucleotide variant Pathogenic rs137853591 GRCh38 Chromosome 16, 30753434: 30753434
11 PHKG2 NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg) single nucleotide variant Pathogenic rs137853592 GRCh37 Chromosome 16, 30767717: 30767717
12 PHKG2 NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg) single nucleotide variant Pathogenic rs137853592 GRCh38 Chromosome 16, 30756396: 30756396
13 PHKG2 NM_000294.2(PHKG2): c.174A> T (p.Thr58=) single nucleotide variant Conflicting interpretations of pathogenicity rs56207641 GRCh37 Chromosome 16, 30762505: 30762505
14 PHKG2 NM_000294.2(PHKG2): c.174A> T (p.Thr58=) single nucleotide variant Conflicting interpretations of pathogenicity rs56207641 GRCh38 Chromosome 16, 30751184: 30751184
15 PHKG2 NM_000294.2(PHKG2): c.1137T> C (p.Pro379=) single nucleotide variant Conflicting interpretations of pathogenicity rs61731628 GRCh37 Chromosome 16, 30768334: 30768334
16 PHKG2 NM_000294.2(PHKG2): c.1137T> C (p.Pro379=) single nucleotide variant Conflicting interpretations of pathogenicity rs61731628 GRCh38 Chromosome 16, 30757013: 30757013
17 PHKG2 NM_000294.2(PHKG2): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs138416154 GRCh38 Chromosome 16, 30751601: 30751601
18 PHKG2 NM_000294.2(PHKG2): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs138416154 GRCh37 Chromosome 16, 30762922: 30762922
19 PHKG2 NM_000294.2(PHKG2): c.360A> G (p.Thr120=) single nucleotide variant Likely benign rs149163610 GRCh37 Chromosome 16, 30764586: 30764586
20 PHKG2 NM_000294.2(PHKG2): c.360A> G (p.Thr120=) single nucleotide variant Likely benign rs149163610 GRCh38 Chromosome 16, 30753265: 30753265
21 PHKG2 NM_000294.2(PHKG2): c.1051G> A (p.Asp351Asn) single nucleotide variant Uncertain significance rs151033581 GRCh37 Chromosome 16, 30768248: 30768248
22 PHKG2 NM_000294.2(PHKG2): c.1051G> A (p.Asp351Asn) single nucleotide variant Uncertain significance rs151033581 GRCh38 Chromosome 16, 30756927: 30756927
23 PHKG2 NM_000294.2(PHKG2): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs753644625 GRCh38 Chromosome 16, 30751224: 30751224
24 PHKG2 NM_000294.2(PHKG2): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs753644625 GRCh37 Chromosome 16, 30762545: 30762545
25 PHKG2 NM_000294.2(PHKG2): c.318_319delGT (p.Phe107Terfs) deletion Pathogenic GRCh38 Chromosome 16, 30751595: 30751596
26 PHKG2 NM_000294.2(PHKG2): c.318_319delGT (p.Phe107Terfs) deletion Pathogenic GRCh37 Chromosome 16, 30762916: 30762917
27 PHKG2 NM_000294.2(PHKG2): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs535265672 GRCh38 Chromosome 16, 30751263: 30751263
28 PHKG2 NM_000294.2(PHKG2): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs535265672 GRCh37 Chromosome 16, 30762584: 30762584
29 PHKG2 NM_000294.2(PHKG2): c.671_672delTCinsAA (p.Phe224Ter) indel Pathogenic GRCh38 Chromosome 16, 30756390: 30756391
30 PHKG2 NM_000294.2(PHKG2): c.671_672delTCinsAA (p.Phe224Ter) indel Pathogenic GRCh37 Chromosome 16, 30767711: 30767712

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 PHKA2 PHKG2
2
Show member pathways
12.18 PHKA2 PHKG2
3
Show member pathways
12.12 PHKA2 PHKG2
4
Show member pathways
11.9 PHKA2 PHKG2
5
Show member pathways
11.76 PHKA2 PHKG2
6
Show member pathways
11.43 PHKA2 PHKG2
7 10.97 PHKA2 PHKG2
8 10.18 PHKA2 PHKG2

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 PHKA2 PHKG2

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 PHKA2 PHKG2
2 carbohydrate metabolic process GO:0005975 9.26 PHKA2 PHKG2
3 generation of precursor metabolites and energy GO:0006091 9.16 PHKA2 PHKG2
4 glycogen metabolic process GO:0005977 8.96 PHKA2 PHKG2
5 glycogen catabolic process GO:0005980 8.62 PHKA2 PHKG2

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 PHKA2 PHKG2
2 phosphorylase kinase activity GO:0004689 8.62 PHKA2 PHKG2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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