Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁹

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Orphanet ⁵⁹ ORPHA264580

UMLS via Orphanet ⁷⁴ C2751643

ICD10 via Orphanet ³⁴ E74.0

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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

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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:

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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

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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

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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...

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

⁴¹

Liver

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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 )	RodrA-guez-JimAcnez C....RodrA-guez-NA^voa S.	2017
2	Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. ( 28627441 )	Zhang J....Qiu Z.	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 )	Musella M....Palumbo R.	2014

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

Genes related to Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PHKG2	Phosphorylase Kinase Catalytic Subunit Gamma 2	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁹
2	PHKA2	Phosphorylase Kinase Regulatory Subunit Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁹

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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

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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.

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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	fMLP Pathway ⁶⁴ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ CCR3 Pathway in Eosinophils ⁶⁴ CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²² VEGF and S-1P Signaling ⁶⁴	12.28	PHKA2 PHKG2
2	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁷ IRS activation ⁶⁶ Signal attenuation ⁶⁶ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.18	PHKA2 PHKG2
3	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶	12.12	PHKA2 PHKG2
4	Glucose metabolism ⁶⁶ Show member pathways gluconeogenesis ¹ Gluconeogenesis ⁶⁶ glycogen biosynthesis ¹ Glycogen breakdown (glycogenolysis) ⁶⁶ Glycogen storage disease type 0 (liver GYS2) ⁶⁶ Glycogen storage disease type II (GAA) ⁶⁶ Glycogen storage disease type IV (GBE1) ⁶⁶ Glycogen synthesis ⁶⁶ glycolysis ¹ Glycolysis ⁶⁶ Glycolysis / Gluconeogenesis ³⁷ Glycolysis and Gluconeogenesis ¹ Glycolysis and gluconeogenesis (short map) ²² Lysosomal glycogen catabolism ⁶⁶ malate-aspartate shuttle ¹	11.9	PHKA2 PHKG2
5	ADP signalling through P2Y purinoceptor 12 ⁶⁶ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶¹ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁶ G alpha (z) signalling events ⁶⁶ G-protein activation ⁶⁶ Signal transduction cAMP signaling ²²	11.76	PHKA2 PHKG2
6	Calcium signaling pathway ³⁷ Show member pathways Oxytocin signaling ¹	11.43	PHKA2 PHKG2
7	Glucagon signaling pathway ³⁷	10.97	PHKA2 PHKG2
8	Glycogen Metabolism ¹	10.18	PHKA2 PHKG2

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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

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