MCID: GLY093
MIFTS: 26

Glycogen Storage Disease Ixa

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



External Ids:

Disease Ontology 12 DOID:0111042
ICD10 32 E74.0

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 carbohydrate metabolic disorder. 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. Affiliated tissues include liver, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Glycogen Storage Disease Ixa

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



Diseases related to Glycogen Storage Disease Ixa

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 10.8 PHKA2 PHKG2
2 Decreased viability GR00221-A-2 10.8 PHKA2 PHKB PHKG1 PHKA1 PHKG2
3 Decreased viability GR00221-A-3 10.8 PHKA2 PHKB PHKG1 PHKA1
4 Decreased viability GR00221-A-4 10.8 PHKA2 PHKB PHKG1
5 Decreased viability GR00342-S-1 10.8 PHKA2
6 Decreased viability GR00342-S-2 10.8 PHKA2
7 Decreased viability GR00342-S-3 10.8 PHKA2 PHKG1
8 Decreased viability GR00402-S-2 10.8 PHKA2 PHKB PHKG1 PHKA1 PHKG2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.09 PHKB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.09 PHKG2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.09 PHKG2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 PHKG2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.09 PHKA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.09 PHKB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.09 PHKB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.09 PHKB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 PHKA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.09 PHKA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.09 PHKA1 PHKB PHKG2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.09 PHKB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.09 PHKB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.09 PHKB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.09 PHKG2
24 Increased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.43 PHKA2 PHKG1 PHKG2
25 shRNA abundance <= 50% GR00343-S 9.43 PGM5 PHKA2 PHKB PHKG1 PHKG2 PPP1R3D
26 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 PHKA1 PHKA2 PHKB PYGL

Drugs & Therapeutics for Glycogen Storage Disease Ixa

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

Genetic Tests for Glycogen Storage Disease Ixa

Anatomical Context for Glycogen Storage Disease Ixa

MalaCards organs/tissues related to Glycogen Storage Disease Ixa:

40
Liver

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
24055370 2013
2
A glycogen storage disease in rats. Morphological and biochemical investigations. 61
6134391 1983

Variations for Glycogen Storage Disease Ixa

Expression for Glycogen Storage Disease Ixa

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

Pathways for Glycogen Storage Disease Ixa

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
2
Show member pathways
13.2 PYGL PPP1R3D PHKG2 PHKG1 PHKB PHKA2
3
Show member pathways
12.68 PHKG2 PHKG1 PHKB PHKA2 PHKA1
4
Show member pathways
12.6 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
5
Show member pathways
12.47 PYGL PPP1R3D PHKG2 PHKG1 PHKB PHKA2
6
Show member pathways
12.31 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
7
Show member pathways
12.26 PHKG2 PHKG1 PHKA2 PHKA1
8
Show member pathways
12.01 PHKG2 PHKG1 PHKB PHKA2 PHKA1
9 11.6 PHKG2 PHKG1 PHKB
10
Show member pathways
11.54 PYGL PPP1R3D
11 11.46 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
12 10.66 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

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 PHKG1 PHKB PHKA2 PHKA1
2 phosphorylase kinase complex GO:0005964 9.02 PHKG2 PHKG1 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 protein phosphorylation GO:0006468 9.72 PHKG2 PHKG1 PHKB PHKA2 PHKA1
2 glycogen catabolic process GO:0005980 9.63 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 generation of precursor metabolites and energy GO:0006091 9.56 PHKG2 PHKB PHKA2 PHKA1
4 glycogen metabolic process GO:0005977 9.5 PYGL PPP1R3D PHKG2 PHKG1 PHKB PHKA2
5 glycogen biosynthetic process GO:0005978 9.37 PHKG2 PHKG1
6 carbohydrate metabolic process GO:0005975 9.23 PYGL PPP1R3D PHKG2 PHKG1 PHKB PHKA2

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.43 PPP1R3D PHKG2 PHKG1
2 calmodulin binding GO:0005516 9.35 PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 tau-protein kinase activity GO:0050321 9.16 PHKG2 PHKG1
4 phosphorylase kinase activity GO:0004689 9.02 PHKG2 PHKG1 PHKB PHKA2 PHKA1

Sources for Glycogen Storage Disease Ixa

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
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