MCID: GLY040
MIFTS: 28

Glycogen Storage Disease, Type Ixa1 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 51 12
Glycogen Storage Disease Ixa1 69 26 67
Glycogen Storage Disease, Type Ixa2 51 67
Hepatic Phosphorylase Kinase Deficiency 69
X-Linked Liver Glycogenosis Type Ii 69
X-Linked Liver Glycogenosis Type I 69
X-Linked Liver Glycogenosis Type 1 24
Glycogen Storage Disease Type Viii 67
Glycogen Storage Disease, Type Ix 67
Glycogen Storage Disease Ixa2 69
Glycogen Storage Disease Viii 69
Glycogen Storage Disease Ixa 69
 
Glycogen Storage Disease Via 69
Glycogen Storage Disease 9a 69
X-Linked Liver Glycogenosis 69
Gsd-Viii 69
Gsd-Ixa 69
Gsd-Via 69
Gsd9a1 69
Gsd9a2 69
Gsd9a 69
Xlg1 24
Xlg 69

Characteristics:

HPO:

63
glycogen storage disease, type ixa1:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 306000
MeSH38 D006008

Summaries for Glycogen Storage Disease, Type Ixa1

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OMIM:51 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 viii and x-linked liver glycogenosis type 2, 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:69 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 viii12.2
2x-linked liver glycogenosis type 212.2
3phka2-related phosphorylase kinase deficiency11.1
4glycogen storage disease due to liver phosphorylase kinase deficiency10.8
5phosphorylase kinase deficiency10.2
6glycogen storage disease10.0
7hepatitis9.9

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



Diseases related to glycogen storage disease, type ixa1

Symptoms 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:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 motor delay63 HP:0001270
2 growth delay63 HP:0001510
3 hypoglycemia63 HP:0001943
4 ketosis63 HP:0001946
5 hypertriglyceridemia63 HP:0002155
6 hepatomegaly63 HP:0002240
7 elevated hepatic transaminases63 HP:0002910
8 hypercholesterolemia63 HP:0003124

UMLS symptoms related to Glycogen Storage Disease, Type Ixa1:


hepatomegaly

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 Ixa126
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:

35
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:

69 (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)SNVPathogenicrs137852286GRCh38Chr X, 18908865: 18908865
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet