GSD9A
MCID: GLY040
MIFTS: 27

Glycogen Storage Disease, Type Ixa1 (GSD9A) malady

Categories: Genetic diseases (common), Liver diseases

Aliases & Classifications for Glycogen Storage Disease, Type Ixa1

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Aliases & Descriptions for Glycogen Storage Disease, Type Ixa1:

Name: Glycogen Storage Disease, Type Ixa1 52 12
Glycogen Storage Disease Ixa1 70 27 68
Glycogen Storage Disease, Type Ixa2 52 68
Hepatic Phosphorylase Kinase Deficiency 70
X-Linked Liver Glycogenosis Type Ii 70
X-Linked Liver Glycogenosis Type 1 24
X-Linked Liver Glycogenosis Type I 70
Glycogen Storage Disease Type Viii 68
Glycogen Storage Disease, Type Ix 68
Glycogen Storage Disease Viii 70
Glycogen Storage Disease Ixa2 70
Glycogen Storage Disease Ixa 70
 
Glycogen Storage Disease Via 70
Glycogen Storage Disease 9a 70
X-Linked Liver Glycogenosis 70
Gsd-Viii 70
Gsd-Ixa 70
Gsd-Via 70
Gsd9a2 70
Gsd9a1 70
Gsd9a 70
Xlg1 24
Xlg 70

Characteristics:

HPO:

64
glycogen storage disease, type ixa1:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 306000
MeSH39 D006008

Summaries for Glycogen Storage Disease, Type Ixa1

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OMIM:52 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 ixa1, is related to glycogen storage disease ixa and glycogen storage disease viii, and has symptoms including motor delay, growth delay and hypoglycemia. An important gene associated with Glycogen Storage Disease, Type Ixa1 is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver.

UniProtKB/Swiss-Prot:70 Glycogen storage disease 9A: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease ixa12.3
2glycogen storage disease viii12.2
3x-linked liver glycogenosis type 212.2
4phka2-related phosphorylase kinase deficiency11.1
5glycogen storage disease due to liver phosphorylase kinase deficiency10.8
6glycogen storage disease10.0

Graphical network of diseases related to Glycogen Storage Disease, Type Ixa1:



Diseases related to glycogen storage disease, type ixa1

Symptoms & Phenotypes for Glycogen Storage Disease, Type Ixa1

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Symptoms by clinical synopsis from OMIM:

306000

Clinical features from OMIM:

306000

Human phenotypes related to Glycogen Storage Disease, Type Ixa1:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 motor delay64 HP:0001270
2 growth delay64 HP:0001510
3 hypoglycemia64 HP:0001943
4 ketosis64 HP:0001946
5 hypertriglyceridemia64 HP:0002155
6 hepatomegaly64 HP:0002240
7 elevated hepatic transaminases64 HP:0002910
8 hypercholesterolemia64 HP:0003124

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Glycogen Storage Disease, Type Ixa1

Genetic Tests for Glycogen Storage Disease, Type Ixa1

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Genetic tests related to Glycogen Storage Disease, Type Ixa1:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ixa127
2 X-Linked Liver Glycogenosis Type 124

Anatomical Context for Glycogen Storage Disease, Type Ixa1

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

36
Liver

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:

70 (show all 17)
id Symbol AA change Variation ID SNP ID
1PHKA2p.His132ProVAR_006177rs137852291
2PHKA2p.His132TyrVAR_006178rs137852292
3PHKA2p.Arg186CysVAR_006180rs137852294
4PHKA2p.Arg186HisVAR_006181rs137852290
5PHKA2p.Asp299GlyVAR_006183rs137852289
6PHKA2p.Thr1114IleVAR_006185rs137852293
7PHKA2p.Pro1205LeuVAR_006186rs137852288
8PHKA2p.Lys189GluVAR_012269rs137852295
9PHKA2p.Gly193ValVAR_012271
10PHKA2p.Arg295HisVAR_012272rs797044877
11PHKA2p.Pro399SerVAR_012273
12PHKA2p.Glu1125LysVAR_012276
13PHKA2p.Gly1207TrpVAR_012277
14PHKA2p.Pro498LeuVAR_062394rs199792389
15PHKA2p.Pro869ArgVAR_062395rs777137574
16PHKA2p.Arg916TrpVAR_062396
17PHKA2p.Met1113IleVAR_062398

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PHKA2NM_ 000292.2(PHKA2): c.3025C> T (p.Gln1009Ter)SNVPathogenicrs137852285GRCh37Chr X, 18919605: 18919605
2PHKA2NM_ 000292.2(PHKA2): c.2296C> T (p.Gln766Ter)SNVPathogenicrs137852286GRCh37Chr X, 18926983: 18926983
3PHKA2NM_ 000292.2(PHKA2): c.717+1G> TSNVPathogenicrs587776731GRCh37Chr X, 18961827: 18961827
4PHKA2NM_ 000292.2(PHKA2): c.3146C> A (p.Ser1049Ter)SNVPathogenicrs137852287GRCh37Chr X, 18915417: 18915417
5PHKA2NM_ 000292.2(PHKA2): c.3614C> T (p.Pro1205Leu)SNVPathogenicrs137852288GRCh37Chr X, 18911697: 18911697
6PHKA2NM_ 000292.2(PHKA2): c.421_ 423delTTC (p.Phe141del)deletionPathogenicrs587776732GRCh37Chr X, 18969253: 18969255
7PHKA2NM_ 000292.2(PHKA2): c.896A> G (p.Asp299Gly)SNVPathogenicrs137852289GRCh37Chr X, 18958135: 18958135
8PHKA2NM_ 000292.2(PHKA2): c.883C> T (p.Arg295Cys)SNVPathogenicrs797045008GRCh37Chr X, 18958148: 18958148

Expression for genes affiliated with Glycogen Storage Disease, Type Ixa1

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

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Sources for Glycogen Storage Disease, Type Ixa1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet