XLG
MCID: GLY040
MIFTS: 20

Glycogen Storage Disease, Type Ixa1 (XLG) malady

Liver, Metabolic categories

Summaries for Glycogen Storage Disease, Type Ixa1

Sources:
47OMIM, 33MalaCards
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MalaCards: Glycogen Storage Disease, Type Ixa1, also known as glycogen storage disease due to liver phosphorylase kinase deficiency, is related to liver cirrhosis and glycogen storage disease. An important gene associated with Glycogen Storage Disease, Type Ixa1 is PHKA2 (phosphorylase kinase, alpha 2 (liver)), and among its related pathways are fMLP Pathway and Activation of cAMP-Dependent PKA. The compounds adp and glycogen have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:47 306000,613027

Aliases & Classifications for Glycogen Storage Disease, Type Ixa1

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver, Metabolic


Characteristics (Orphanet epidemiological data):

49
glycogen storage disease due to liver phosphorylase kinase deficiency:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

glycogen storage disease, type ixa1 47
glycogen storage disease due to liver phosphorylase kinase deficiency 49
glycogenosis due to liver phosphorylase kinase deficiency 49
gsd due to liver phosphorylase kinase deficiency 49
glycogen storage disease type ixc 49
glycogen storage disease type ixa 49
glycogen storage disease type 9c 49
glycogen storage disease type 9a 49
glycogenosis type ixc 49
glycogenosis type ixa 49
glycogenosis type 9a 49
glycogenosis type 9c 49
gsd type ixa 49
gsd type ixc 49
gsd type 9c 49
gsd type 9a 49
xlg 49


External Ids:

ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease, Type Ixa1

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Glycogen Storage Disease, Type Ixa1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1liver cirrhosis10.0PHKG2, PHKA2
2glycogen storage disease10.0PHKG2, PHKA2

Clinical Features for Glycogen Storage Disease, Type Ixa1

Sources:
47OMIM
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Clinical features from OMIM:

306000,613027

Clinical synopsis from OMIM:

306000

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Glycogen Storage Disease, Type Ixa1

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease, Type Ixa1

Search NIH Clinical Center for Glycogen Storage Disease, Type Ixa1

Search CenterWatch for Glycogen Storage Disease, Type Ixa1

Genetic Tests for Glycogen Storage Disease, Type Ixa1

Anatomical Context for Glycogen Storage Disease, Type Ixa1

Sources:
33MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease, Type Ixa1:

33
Liver

Animal Models for Glycogen Storage Disease, Type Ixa1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Glycogen Storage Disease, Type Ixa1

Genetic Variations for Glycogen Storage Disease, Type Ixa1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease, Type Ixa1:

63 (show all 17)
id Symbol AA change Variation SNP ID
1PHKA2p.His132ProVAR_006177
2PHKA2p.His132TyrVAR_006178
3PHKA2p.Arg186CysVAR_006180
4PHKA2p.Arg186HisVAR_006181
5PHKA2p.Asp299GlyVAR_006183
6PHKA2p.Thr1114IleVAR_006185
7PHKA2p.Pro1205LeuVAR_006186
8PHKA2p.Lys189GluVAR_012269
9PHKA2p.Gly193ValVAR_012271
10PHKA2p.Arg295HisVAR_012272
11PHKA2p.Pro399SerVAR_012273
12PHKA2p.Glu1125LysVAR_012276
13PHKA2p.Gly1207TrpVAR_012277
14PHKA2p.Pro498LeuVAR_062394
15PHKA2p.Pro869ArgVAR_062395
16PHKA2p.Arg916TrpVAR_062396
17PHKA2p.Met1113IleVAR_062398

Expression for genes affiliated with Glycogen Storage Disease, Type Ixa1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease, Type Ixa1

Search GEO for disease gene expression data for Glycogen Storage Disease, Type Ixa1.

Pathways for genes affiliated with Glycogen Storage Disease, Type Ixa1

Sources:
52QIAGEN, 54Reactome, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database
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Pathways related to Glycogen Storage Disease, Type Ixa1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PHKG2, PHKA2
2
Hide members
9.1PHKG2, PHKA2
39.1PHKG2, PHKA2
4
Translation Insulin regulation of translation
Hide members
9.1PHKG2, PHKA2
5
Hide members
9.1PHKA2, PHKG2
69.1PHKG2, PHKA2
7
Signal transduction cAMP signaling
Hide members
9.1PHKG2, PHKA2
89.1PHKG2, PHKA2
9
Hide members
9.1PHKG2, PHKA2

Compounds for genes affiliated with Glycogen Storage Disease, Type Ixa1

Sources:
45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Glycogen Storage Disease, Type Ixa1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp45 29 2411.1PHKG2, PHKA2
2glycogen45 249.8PHKG2, PHKA2

GO Terms for genes affiliated with Glycogen Storage Disease, Type Ixa1

Sources:
16Gene Ontology
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Cellular components related to Glycogen Storage Disease, Type Ixa1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase complexGO:0059649.1PHKG2, PHKA2

Biological processes related to Glycogen Storage Disease, Type Ixa1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:0059809.1PHKG2, PHKA2
2carbohydrate metabolic processGO:0059759.1PHKG2, PHKA2
3generation of precursor metabolites and energyGO:0060919.0PHKG2, PHKA2
4glucose metabolic processGO:0060068.8PHKG2, PHKA2

Molecular functions related to Glycogen Storage Disease, Type Ixa1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:0055169.1PHKG2, PHKA2
2phosphorylase kinase activityGO:0046898.8PHKG2, PHKA2

Products for genes affiliated with Glycogen Storage Disease, Type Ixa1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease, Type Ixa1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet