MCID: GLY093
MIFTS: 25

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 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

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:



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 10.29 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

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

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
2
Show member pathways
13.17 PYGL PPP1R3D PHKG2 PHKB PHKA2 PHKA1
3
Show member pathways
12.68 PHKG2 PHKB PHKA2 PHKA1 GYS2
4
Show member pathways
12.55 PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
5
Show member pathways
12.47 PYGL PPP1R3D PHKG2 PHKB PHKA2 PHKA1
6
Show member pathways
12.31 PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
7
Show member pathways
12.15 PHKG2 PHKA2 PHKA1
8
Show member pathways
12.01 PHKG2 PHKB PHKA2 PHKA1
9
Show member pathways
11.67 PYGL PPP1R3D GYS2
10
Show member pathways
11.61 PYGL GYS2
11 11.46 PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
12 11.43 PHKG2 PHKB
13 10.66 PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2

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

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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