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

XLG MCID: GLY065 MIFTS: 38	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 Expand all tables

Sources

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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁸

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E74.0

UMLS via Orphanet ⁷² C2751643

Orphanet ⁵⁸ ORPHA264580

Sources

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

Sources

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:

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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	Herbert M...Bali DS	21634085	2011
2	Glycogen storage disease type IX: High variability in clinical phenotype. ⁶	Beauchamp NJ...Sharrard M	17689125	2007
3	Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ⁶	Burwinkel B...Kilimann MW	10905889	2000
4	Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. ⁶	Burwinkel B...Kilimann MW	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	Maichele AJ...Kilimann MW	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	Burwinkel B...Kilimann MW	8733134	1996
7	Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. ⁶	Kagalwalla AF...Ali MA	7562285	1995
8	X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. ⁶	van den Berg IE...Berger R	7847371	1995
9	Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. ⁶	Hendrickx J...Willems PJ	7711737	1995
10	The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. ⁶	Willems PJ...Fernandes J	2303074	1990
11	A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor. ⁶	Shiomi S...Owada M	2558039	1989
12	Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. ⁶	Sovik O...Maehle B	6962066	1982
13	X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. ⁶	Huijing F...Fernandes J	5306139	1969
14	A new variant of glycogen storage disease. Type IXc. ⁶¹	Lerner A...Moses S	6952760	1982

Sources

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 ⁵⁸	6962066 7562285 9384616 (more) 2558039 21634085 8896567 10905889
2	PHKA2	Phosphorylase Kinase Regulatory Subunit Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁸

Sources

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 INS	insertion	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>T	SNV	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>T	SNV	Uncertain significance	318940	rs369684098	16:30764883-30764883	16:30753562-30753562
28	PHKG2	NM_000294.3(PHKG2):c.95+11G>A	SNV	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>G	SNV	Uncertain significance	318941	rs886051913	16:30768116-30768116	16:30756795-30756795
31	PHKG2	NM_001172432.1(PHKG2):c.-106G>A	SNV	Uncertain significance	318928	rs879382458	16:30759724-30759724	16:30748403-30748403
32	PHKG2	NM_000294.3(PHKG2):c.271+14C>T	SNV	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>T	SNV	Uncertain significance	885327		16:30759668-30759668	16:30748347-30748347
36	PHKG2	NM_001172432.1(PHKG2):c.-118G>A	SNV	Uncertain significance	886234		16:30759712-30759712	16:30748391-30748391
37	PHKG2	NM_000294.3(PHKG2):c.-76G>C	SNV	Uncertain significance	886235		16:30759754-30759754	16:30748433-30748433
38	PHKG2	NM_000294.3(PHKG2):c.-3A>G	SNV	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>T	SNV	Uncertain significance	886306		16:30768440-30768440	16:30757119-30757119
44	PHKG2	NM_000294.3(PHKG2):c.*47G>A	SNV	Uncertain significance	886307		16:30768465-30768465	16:30757144-30757144
45	PHKG2	NM_000294.3(PHKG2):c.556+11C>G	SNV	Uncertain significance	888492		16:30764889-30764889	16:30753568-30753568
46	PHKG2	NM_000294.3(PHKG2):c.96-7C>G	SNV	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

Sources

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.

Sources

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 ⁶³ Show member pathways Alpha-Adrenergic Signaling ⁶³ CCR3 Pathway in Eosinophils ⁶³ CXCR4 Pathway ⁶³ Huntington's Disease Pathway ⁶³ Internalin Pathway ⁶³ Signal transduction Activation of PKC via G-Protein coupled receptor ²² VEGF and S-1P Signaling ⁶³	12.28	PHKG2 PHKA2
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 ³⁶ IRS activation ⁶⁵ Signal attenuation ⁶⁵ 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	PHKG2 PHKA2
3	Glycosaminoglycan metabolism ⁶⁵ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁵ HS-GAG biosynthesis ⁶⁵ Hyaluronan biosynthesis and export ⁶⁵ Hyaluronan metabolism ⁶⁵ Hyaluronan uptake and degradation ⁶⁵ Metabolism of carbohydrates ⁶⁵	12.12	PHKG2 PHKA2
4	Glucose metabolism ⁶⁵ Show member pathways gluconeogenesis ¹ Gluconeogenesis ⁶⁵ glycogen biosynthesis ¹ Glycogen breakdown (glycogenolysis) ⁶⁵ Glycogen storage disease type 0 (liver GYS2) ⁶⁵ Glycogen storage disease type II (GAA) ⁶⁵ Glycogen storage disease type IV (GBE1) ⁶⁵ Glycogen synthesis ⁶⁵ glycolysis ¹ Glycolysis ⁶⁵ Glycolysis / Gluconeogenesis ³⁶ Glycolysis and Gluconeogenesis ¹ Glycolysis and gluconeogenesis (short map) ²² Lysosomal glycogen catabolism ⁶⁵ malate-aspartate shuttle ¹	11.9	PHKG2 PHKA2
5	ADP signalling through P2Y purinoceptor 12 ⁶⁵ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁵ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁵ G alpha (z) signalling events ⁶⁵ G-protein activation ⁶⁵ Signal transduction cAMP signaling ²²	11.76	PHKG2 PHKA2
6	Calcium signaling pathway ³⁶ Show member pathways Oxytocin signaling ¹	11.46	PHKG2 PHKA2
7	Glucagon signaling pathway ³⁶	10.98	PHKG2 PHKA2
8	Glycogen Metabolism ¹	10.18	PHKG2 PHKA2

Sources

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

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

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

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

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

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:

Graphical network of the top 20 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:

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

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

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:

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

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

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):

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

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

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

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:

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:

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

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

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