XLG
MCID: GLY040
MIFTS: 33

Glycogen Storage Disease, Type Ixa1 (XLG) malady

Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases categories

Summaries for Glycogen Storage Disease, Type Ixa1

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OMIM:46 Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a... (306000) more...

MalaCards based summary: Glycogen Storage Disease, Type Ixa1, also known as glycogen storage disease due to liver phosphorylase kinase deficiency, is related to glycogen storage disease and obesity, and has symptoms including motor delay, x-linked recessive inheritance and growth delay. 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:46 613027

Aliases & Classifications for Glycogen Storage Disease, Type Ixa1

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Sources:
61UMLS, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
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Glycogen Storage Disease, Type Ixa1, Aliases & Descriptions:

Name: Glycogen Storage Disease, Type Ixa1 46
Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 48
Glycogenosis Due to Liver Phosphorylase Kinase Deficiency 48
Gsd Due to Liver Phosphorylase Kinase Deficiency 48
Glycogen Storage Disease Type Ixa 48
Glycogen Storage Disease Type Ixc 48
Glycogen Storage Disease Type 9a 48
Glycogen Storage Disease Type 9c 48
Glycogen Storage Disease Ixc 61
Glycogen Storage Disease 61
 
Glycogenosis Type Ixa 48
Glycogenosis Type Ixc 48
Glycogenosis Type 9a 48
Glycogenosis Type 9c 48
Gsd Type Ixa 48
Gsd Type Ixc 48
Gsd Type 9c 48
Gsd Type 9a 48
Xlg 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to liver phosphorylase kinase deficiency:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: Normal


External Ids:

ICD10 via Orphanet27 E74.0

Related Diseases for Glycogen Storage Disease, Type Ixa1

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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
1glycogen storage disease30.3PHKG2, PHKA2
2obesity10.4
3liver cirrhosis9.9PHKG2, PHKA2

Symptoms for Glycogen Storage Disease, Type Ixa1

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Symptoms by clinical synopsis from OMIM:

306000

Clinical features from OMIM:

306000,613027

HPO human phenotypes related to Glycogen Storage Disease, Type Ixa1:

(show all 9)
id Description Frequency HPO Source Accession
1 motor delay HP:0001270
2 x-linked recessive inheritance HP:0001419
3 growth delay HP:0001510
4 hypoglycemia HP:0001943
5 ketosis HP:0001946
6 hypertriglyceridemia HP:0002155
7 hepatomegaly HP:0002240
8 elevated hepatic transaminases HP:0002910
9 hypercholesterolemia HP:0003124

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa1

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease, Type Ixa1

Search NIH Clinical Center for Glycogen Storage Disease, Type Ixa1

Genetic Tests for Glycogen Storage Disease, Type Ixa1

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Anatomical Context for Glycogen Storage Disease, Type Ixa1

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

32
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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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease, Type Ixa1:

63 (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:

7 (show all 14)
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
8PHKG2PHKG2, 1-BP INSinsertionPathogenic
9PHKG2NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu)single nucleotide variantPathogenicrs137853588GRCh37Chr 16, 30767512: 30767512
10PHKG2NM_000294.2(PHKG2): c.317T> A (p.Val106Glu)single nucleotide variantPathogenicrs137853589GRCh37Chr 16, 30762915: 30762915
11PHKG2NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter)single nucleotide variantPathogenicrs137853590GRCh37Chr 16, 30762461: 30762461
12PHKG2PHKG2, 1-BP DEL, 277CdeletionPathogenic
13PHKG2NM_000294.2(PHKG2): c.433C> T (p.His145Tyr)single nucleotide variantPathogenicrs137853591GRCh37Chr 16, 30764755: 30764755
14PHKG2NM_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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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

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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 regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
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 shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
9.1PHKG2, PHKA2
7
Show member pathways
Signal transduction cAMP signaling59
9.1PHKG2, PHKA2
89.1PHKG2, PHKA2

Compounds for genes affiliated with Glycogen Storage Disease, Type Ixa1

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Sources:
44Novoseek, 29IUPHAR, 25HMDB
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Compounds related to Glycogen Storage Disease, Type Ixa1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp44 29 2511.1PHKG2, PHKA2
2glycogen44 259.8PHKG2, PHKA2

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

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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
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease, Type Ixa1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet