Glycogen Storage Disease Ixa disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Glycogen Storage Disease Ixa

MalaCards integrated aliases for Glycogen Storage Disease Ixa:

Name: Glycogen Storage Disease Ixa ¹² ¹⁵

Glycogen Storage Disease Type Ixa ¹²

Glycogen Storage Disease Type 9a ¹²

Glycogenosis Type Ixa ¹²

Glycogenosis Type 9a ¹²

Gsd Type Ixa ¹²

Gsd Type 9a ¹²

Gsd9a ¹²

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Blood diseases Respiratory diseases Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

External Ids:

Disease Ontology ¹² DOID:0111042

ICD10 ³² E74.0

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Summaries for Glycogen Storage Disease Ixa

Disease Ontology : ¹² A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material basis in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.

MalaCards based summary : Glycogen Storage Disease Ixa, also known as glycogen storage disease type ixa, is related to glycogen storage disease due to liver phosphorylase kinase deficiency and phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Ixa is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Glycogen Storage Disease Ixa

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia	Glycogen Storage Disease Ib
Glycogen Storage Disease Ic	Glycogen Storage Disease Ii
Glycogen Storage Disease Iii	Glycogen Storage Disease Iv
Glycogen Storage Disease V	Glycogen Storage Disease Vi
Glycogen Storage Disease Vii	Glycogen Storage Disease X
Glycogen Storage Disease Ixb	Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii	Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc	Glycogen Storage Disease Xv
Glycogen Storage Disease Ix	Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii	Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ixa via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	glycogen storage disease due to liver phosphorylase kinase deficiency	32.1	PHKG2 PHKA2
2	phosphorylase kinase deficiency	29.4	PHKG2 PHKB PHKA2 PHKA1
3	glycogen storage disease	28.2	PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
4	glycogen storage disease ixa1	11.6
5	hypoglycemia	10.5
6	leptin deficiency or dysfunction	10.3
7	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
8	glycogen storage disease v	9.8	PYGL PHKA1
9	myoclonic epilepsy of lafora	9.2	PPP1R3D GYS2
10	glycogen storage disease, type ixd	8.9	PYGL PHKG2 PHKB PHKA2 PHKA1
11	glycogen storage disease ixb	8.9	PYGL PHKG2 PHKB PHKA2 PHKA1
12	glycogen storage disease vi	8.6	PYGL PPP1R3D PGM5 GYS2
13	glycogen storage disease ix	8.6	PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ixa:

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Symptoms & Phenotypes for Glycogen Storage Disease Ixa

GenomeRNAi Phenotypes related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:

²⁶ (show all 26)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	10.29	PHKA2 PHKG2
2	Decreased viability	GR00221-A-2	10.29	PHKA1 PHKA2 PHKB PHKG2
3	Decreased viability	GR00221-A-3	10.29	PHKA1 PHKA2 PHKB
4	Decreased viability	GR00221-A-4	10.29	PHKA2 PHKB
5	Decreased viability	GR00342-S-1	10.29	PHKA2
6	Decreased viability	GR00342-S-2	10.29	PHKA2
7	Decreased viability	GR00342-S-3	10.29	PHKA2
8	Decreased viability	GR00402-S-2	10.29	PHKG2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-112	9.89	PHKA1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-119	9.89	PHKG2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	9.89	PHKA1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	9.89	PHKA1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.89	PHKG2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.89	PHKG2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	9.89	PHKA1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-3	9.89	PHKB
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-33	9.89	PHKB
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	9.89	PHKA1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.89	PHKA1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.89	PHKG2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-54	9.89	PHKB
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.89	PHKB
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.89	PHKB
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-89	9.89	PHKB
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-99	9.89	PHKG2
26	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	8.92	PHKA1 PHKA2 PHKB PYGL

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Drugs & Therapeutics for Glycogen Storage Disease Ixa

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Ixa

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Genetic Tests for Glycogen Storage Disease Ixa

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Anatomical Context for Glycogen Storage Disease Ixa

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Publications for Glycogen Storage Disease Ixa

Articles related to Glycogen Storage Disease Ixa:

#	Title	Authors	PMID	Year
1	X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. ⁶¹	Cho SY...Siu WK	24055370	2013
2	A glycogen storage disease in rats. Morphological and biochemical investigations. ⁶¹	Haynes D...Clark D	6134391	1983

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Genes for Glycogen Storage Disease Ixa

Genes related to Glycogen Storage Disease Ixa (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PHKA2	Phosphorylase Kinase Regulatory Subunit Alpha 2	Protein Coding	8.4	DISEASES inferred ¹⁵
2	PHKA1	Phosphorylase Kinase Regulatory Subunit Alpha 1	Protein Coding	7.13	DISEASES inferred ¹⁵
3	PHKB	Phosphorylase Kinase Regulatory Subunit Beta	Protein Coding	6.81	DISEASES inferred ¹⁵
4	PHKG2	Phosphorylase Kinase Catalytic Subunit Gamma 2	Protein Coding	6.75	DISEASES inferred ¹⁵
5	GYS2	Glycogen Synthase 2	Protein Coding	6	DISEASES inferred ¹⁵
6	PYGL	Glycogen Phosphorylase L	Protein Coding	5.97	DISEASES inferred ¹⁵
7	PPP1R3D	Protein Phosphatase 1 Regulatory Subunit 3D	Protein Coding	5.79	DISEASES inferred ¹⁵
8	PGM5	Phosphoglucomutase 5	Protein Coding	5.24	DISEASES inferred ¹⁵

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Variations for Glycogen Storage Disease Ixa

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Expression for Glycogen Storage Disease Ixa

Search GEO for disease gene expression data for Glycogen Storage Disease Ixa.

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Pathways for Glycogen Storage Disease Ixa

Pathways related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.64	PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
2	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	13.17	PYGL PPP1R3D PHKG2 PHKB PHKA2 PHKA1
3	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	12.68	PHKG2 PHKB PHKA2 PHKA1 GYS2
4	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	12.55	PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
5	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	12.47	PYGL PPP1R3D PHKG2 PHKB PHKA2 PHKA1
6	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	12.31	PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
7	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	12.15	PHKG2 PHKA2 PHKA1
8	Calcium signaling pathway ³⁶ Show member pathways Oxytocin signaling ¹	12.01	PHKG2 PHKB PHKA2 PHKA1
9	Insulin resistance ³⁶ Show member pathways protein O-[N-acetyl]-glucosylation ¹	11.67	PYGL PPP1R3D GYS2
10	Galactose metabolism ³⁶ ²² Show member pathways D-galactose degradation V (Leloir pathway) ¹ Galactose catabolism ⁶⁵ GDP-glucose biosynthesis II ¹ Glycogen metabolism ²² Neomycin, kanamycin and gentamicin biosynthesis ³⁶ Starch and sucrose metabolism ³⁶ UDP-N-acetyl-D-galactosamine biosynthesis I ¹	11.61	PYGL GYS2
11	Glucagon signaling pathway ³⁶	11.46	PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
12	Signal transduction_PKA signaling ²²	11.43	PHKG2 PHKB
13	Glycogen Metabolism ¹	10.66	PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2

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GO Terms for Glycogen Storage Disease Ixa

Cellular components related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	9.5	PYGL PHKG2 PHKB PHKA2 PHKA1 PGM5
2	phosphorylase kinase complex	GO:0005964	8.92	PHKG2 PHKB PHKA2 PHKA1

Biological processes related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	carbohydrate metabolic process	GO:0005975	9.7	PYGL PPP1R3D PHKG2 PHKB PHKA2 PHKA1
2	protein phosphorylation	GO:0006468	9.67	PHKG2 PHKB PHKA2 PHKA1
3	generation of precursor metabolites and energy	GO:0006091	9.65	PHKG2 PHKB PHKA2 PHKA1 GYS2
4	glycogen catabolic process	GO:0005980	9.35	PYGL PHKG2 PHKB PHKA2 PHKA1
5	glycogen biosynthetic process	GO:0005978	9.32	PHKG2 GYS2
6	glycogen metabolic process	GO:0005977	9.1	PYGL PPP1R3D PHKG2 PHKB PHKA2 PHKA1

Molecular functions related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	9.46	PHKG2 PHKB PHKA2 PHKA1
2	catalytic activity	GO:0003824	9.35	PYGL PHKB PHKA2 PHKA1 GYS2
3	phosphorylase kinase activity	GO:0004689	8.92	PHKG2 PHKB PHKA2 PHKA1

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Sources for Glycogen Storage Disease Ixa

¹ BioSystems

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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⁴⁰ MalaCards

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⁴⁷ NCBI Bookshelf

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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⁵⁹ PathCards

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia