XLG
MCID: GLY040
MIFTS: 30

Glycogen Storage Disease, Type Ixa1 (XLG) malady

Genetic diseases, Liver diseases, Rare diseases categories

Summaries for Glycogen Storage Disease, Type Ixa1

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48OMIM, 34MalaCards
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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 Translation Insulin regulation of translation. The compounds adp and glycogen have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:48 306000,613027

Aliases & Classifications for Glycogen Storage Disease, Type Ixa1

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Sources:
48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

50
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 48
glycogen storage disease due to liver phosphorylase kinase deficiency 50
glycogenosis due to liver phosphorylase kinase deficiency 50
gsd due to liver phosphorylase kinase deficiency 50
glycogen storage disease type ixc 50
glycogen storage disease type ixa 50
glycogen storage disease type 9c 50
glycogen storage disease type 9a 50
glycogenosis type ixc 50
glycogenosis type ixa 50
glycogenosis type 9a 50
glycogenosis type 9c 50
gsd type ixa 50
gsd type ixc 50
gsd type 9c 50
gsd type 9a 50
xlg 50


External Ids:

SNOMED-CT via Orphanet60 235908005
ICD10 via Orphanet27 E74.0

Related Diseases for Glycogen Storage Disease, Type Ixa1

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18GeneCards, 19GeneDecks
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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 disease9.9PHKG2, PHKA2

Symptoms for Glycogen Storage Disease, Type Ixa1

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48OMIM
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Symptoms by clinical synopsis from OMIM:

306000

Clinical features from OMIM:

306000,613027

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Genetic Tests for Glycogen Storage Disease, Type Ixa1

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Anatomical Context for Glycogen Storage Disease, Type Ixa1

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34MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease, Type Ixa1:

34
Liver

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

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Publications for Glycogen Storage Disease, Type Ixa1

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Variations for Glycogen Storage Disease, Type Ixa1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease, Type Ixa1:

65 (show all 17)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Glycogen Storage Disease, Type Ixa1:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1PHKA2NM_000292.2(PHKA2): c.3025C> T (p.Gln1009Ter)single nucleotide variantPathogenicrs137852285GRCh37Chr X, 18919605: 18919605
2PHKA2NM_000292.2(PHKA2): c.2296C> T (p.Gln766Ter)single nucleotide variantPathogenicrs137852286GRCh37Chr X, 18926983: 18926983
3PHKA2NM_000292.2(PHKA2): c.717+1G> Tsingle nucleotide variantPathogenicGRCh37Chr X, 18961827: 18961827
4PHKA2NM_000292.2(PHKA2): c.3146C> A (p.Ser1049Ter)single nucleotide variantPathogenicrs137852287GRCh37Chr X, 18915417: 18915417
5NM_000292.2(PHKA2): c.3614C> T (p.Pro1205Leu)single nucleotide variantPathogenicrs137852288GRCh37Chr X, 18911697: 18911697
6PHKA2NM_000292.2(PHKA2): c.421_423delTTC (p.Phe141del)deletionPathogenicGRCh37Chr X, 18969253: 18969255
7PHKA2NM_000292.2(PHKA2): c.896A> G (p.Asp299Gly)single nucleotide variantPathogenicrs137852289GRCh37Chr X, 18958135: 18958135
8PHKG2NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu)single nucleotide variantPathogenicrs137853588GRCh37Chr 16, 30767512: 30767512
9PHKG2NM_000294.2(PHKG2): c.317T> A (p.Val106Glu)single nucleotide variantPathogenicrs137853589GRCh37Chr 16, 30762915: 30762915
10PHKG2NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter)single nucleotide variantPathogenicrs137853590GRCh37Chr 16, 30762461: 30762461
11PHKG2NM_000294.2(PHKG2): c.433C> T (p.His145Tyr)single nucleotide variantPathogenicrs137853591GRCh37Chr 16, 30764755: 30764755
12PHKG2NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg)single nucleotide variantPathogenicrs137853592GRCh37Chr 16, 30767717: 30767717

Expression for genes affiliated with Glycogen Storage Disease, Type Ixa1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease, Type Ixa1

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Pathways for genes affiliated with Glycogen Storage Disease, Type Ixa1

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Sources:
51PathCards, 54QIAGEN, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome
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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
Show member pathways
9.1PHKG2, PHKA2
2
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.1PHKG2, PHKA2
3
Show member pathways
9.1PHKG2, PHKA2
4
Show member pathways
9.1PHKA2, PHKG2
59.1PHKG2, PHKA2
6
Show member pathways
malate-aspartate shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
9.1PHKG2, PHKA2
7
Show member pathways
Signal transduction cAMP signaling61
9.1PHKG2, PHKA2
89.1PHKG2, PHKA2

Compounds for genes affiliated with Glycogen Storage Disease, Type Ixa1

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Sources:
46Novoseek, 30IUPHAR, 25HMDB
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Compounds related to Glycogen Storage Disease, Type Ixa1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp46 30 2511.1PHKG2, PHKA2
2glycogen46 259.8PHKG2, PHKA2

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

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17Gene 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:0059809.2PHKG2, PHKA2
2generation of precursor metabolites and energyGO:0060919.2PHKG2, PHKA2
3glucose metabolic processGO:0060069.1PHKG2, PHKA2
4small molecule metabolic processGO:0442819.1PHKG2, PHKA2
5carbohydrate metabolic processGO:0059759.0PHKA2, PHKG2
6protein phosphorylationGO:0064688.8PHKG2, 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease, Type Ixa1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet