MCID: GLY001
MIFTS: 25

Glycogen Storage Disease Ix

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 Ix

MalaCards integrated aliases for Glycogen Storage Disease Ix:

Name: Glycogen Storage Disease Ix 12 15
Glycogen Storage Disease Type 9 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050594

Summaries for Glycogen Storage Disease Ix

Disease Ontology : 12 A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.

MalaCards based summary : Glycogen Storage Disease Ix, also known as glycogen storage disease type 9, is related to glycogen storage disease ixc and glycogen storage disease ixa. An important gene associated with Glycogen Storage Disease Ix is PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency... more...

Related Diseases for Glycogen Storage Disease Ix

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 Ix via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ixc 31.2 PHKG2 NSUN2 MMAA
2 glycogen storage disease ixa 30.7 PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
3 glycogen storage disease ixb 30.7 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
4 glycogen storage disease, type ixd 30.7 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
5 phosphorylase kinase deficiency 29.2 PHKG2 PHKG1 PHKB PHKA2 PHKA1
6 glycogen storage disease 28.9 PYGL PHKG2 PHKB PHKA2 PHKA1 GYS2
7 glycogen storage disease due to phosphorylase kinase deficiency 11.4
8 renal tubular acidosis, proximal 10.1
9 fanconi-bickel syndrome 10.1
10 renal tubular acidosis 10.1
11 glycogen storage disease ixa1 10.1
12 hypoglycemia 10.1
13 fasting hypoglycemia 10.1
14 glycogen storage disease ia 10.0 PHKG2 PHKA2
15 glycogen storage disease v 10.0 PYGL PHKA1
16 glycogen storage disease viii 9.9 PHKA2 PHKA1
17 glycogen storage disease vi 9.9 PYGL GYS2
18 glycogen storage disease due to liver phosphorylase kinase deficiency 9.8 PHKG2 PHKA2

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



Diseases related to Glycogen Storage Disease Ix

Symptoms & Phenotypes for Glycogen Storage Disease Ix

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.52 PHKA2 PHKG2
2 Decreased viability GR00221-A-2 10.52 PHKA2 PHKB PHKG1 PHKA1 PHKG2
3 Decreased viability GR00221-A-3 10.52 PHKA2 PHKB PHKG1 PHKA1
4 Decreased viability GR00221-A-4 10.52 PHKA2 PHKB PHKG1
5 Decreased viability GR00342-S-1 10.52 PHKA2
6 Decreased viability GR00342-S-2 10.52 PHKA2
7 Decreased viability GR00342-S-3 10.52 PHKA2
8 Decreased viability GR00402-S-2 10.52 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 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.96 PHKG2
27 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 PHKA1 PHKA2 PHKB PYGL

Drugs & Therapeutics for Glycogen Storage Disease Ix

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

Genetic Tests for Glycogen Storage Disease Ix

Anatomical Context for Glycogen Storage Disease Ix

Publications for Glycogen Storage Disease Ix

Articles related to Glycogen Storage Disease Ix:

# Title Authors PMID Year
1
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. 61
33317799 2020
2
Proximal renal tubular acidosis associated with glycogen storage disease, type 9. 61
3164568 1988
3
Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI. 61
3148066 1988

Variations for Glycogen Storage Disease Ix

Expression for Glycogen Storage Disease Ix

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

Pathways for Glycogen Storage Disease Ix

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
2
Show member pathways
13.23 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3
Show member pathways
12.73 PHKG2 PHKG1 PHKB PHKA2 PHKA1 GYS2
4
Show member pathways
12.64 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
5
Show member pathways
12.55 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
6
Show member pathways
12.33 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
7
Show member pathways
12.26 PHKG2 PHKG1 PHKA2 PHKA1
8 12.15 PHKG2 PHKG1 PHKB PHKA2 PHKA1
9 11.59 PHKG2 PHKG1 PHKB
10 11.53 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
11
Show member pathways
11.48 MMAA GYS2
12 10.72 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

GO Terms for Glycogen Storage Disease Ix

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

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.77 PHKG2 PHKG1 PHKB PHKA2 PHKA1
2 carbohydrate metabolic process GO:0005975 9.73 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 generation of precursor metabolites and energy GO:0006091 9.55 PHKG2 PHKB PHKA2 PHKA1 GYS2
4 glycogen biosynthetic process GO:0005978 9.5 PHKG2 PHKG1 GYS2
5 glycogen metabolic process GO:0005977 9.43 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
6 glycogen catabolic process GO:0005980 9.1 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.72 PYGL PHKG2 PHKG1 NSUN2 GYS2
2 catalytic activity GO:0003824 9.55 PYGL PHKB PHKA2 PHKA1 GYS2
3 calmodulin binding GO:0005516 9.35 PHKG2 PHKG1 PHKB PHKA2 PHKA1
4 tau-protein kinase activity GO:0050321 9.26 PHKG2 PHKG1
5 phosphorylase kinase activity GO:0004689 8.92 PHKG2 PHKG1 PHKA2 PHKA1

Sources for Glycogen Storage Disease Ix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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