MCID: GLY040
MIFTS: 28

Glycogen Storage Disease, Type Ixa1 malady

Categories: Genetic diseases (common), Liver diseases

Aliases & Classifications for Glycogen Storage Disease, Type Ixa1

About this section

Aliases & Descriptions for Glycogen Storage Disease, Type Ixa1:

Name: Glycogen Storage Disease, Type Ixa1 50 12
Glycogen Storage Disease Ixa1 68 25 66
Hepatic Phosphorylase Kinase Deficiency 68
Glycogen Storage Disease, Type Ixa2 50
X-Linked Liver Glycogenosis Type Ii 68
X-Linked Liver Glycogenosis Type 1 23
X-Linked Liver Glycogenosis Type I 68
Glycogen Storage Disease Ixa2 68
Glycogen Storage Disease Viii 68
Glycogen Storage Disease Ixa 68
Glycogen Storage Disease Via 68
 
Glycogen Storage Disease 9a 68
X-Linked Liver Glycogenosis 68
Gsd-Viii 68
Gsd-Ixa 68
Gsd-Via 68
Gsd9a2 68
Gsd9a1 68
Gsd9a 68
Xlg1 23
Xlg 68

Characteristics:

HPO:

62
glycogen storage disease, type ixa1:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 306000
MeSH37 D006008

Summaries for Glycogen Storage Disease, Type Ixa1

About this section
OMIM:50 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 hepatomegaly, motor delay and growth delay. 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:68 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

About this section

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 viii12.3
2x-linked liver glycogenosis type 212.3
3phka2-related phosphorylase kinase deficiency11.3
4glycogen storage disease due to liver phosphorylase kinase deficiency11.0
5phosphorylase kinase deficiency10.3
6glycogen storage disease10.1
7hepatitis10.0

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

About this section

Symptoms by clinical synopsis from OMIM:

306000

Clinical features from OMIM:

306000

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

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

UMLS symptoms related to Glycogen Storage Disease, Type Ixa1:


hepatomegaly

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa1

About this section

Interventional clinical trials:

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

Genetic Tests for Glycogen Storage Disease, Type Ixa1

About this section

Genetic tests related to Glycogen Storage Disease, Type Ixa1:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ixa125
2 X-Linked Liver Glycogenosis Type 123

Anatomical Context for Glycogen Storage Disease, Type Ixa1

About this section

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

34
Liver

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

About this section

Publications for Glycogen Storage Disease, Type Ixa1

About this section

Variations for Glycogen Storage Disease, Type Ixa1

About this section

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

68 (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_012272
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)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 variantPathogenicrs587776731GRCh37Chr 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)deletionPathogenicrs587776732GRCh37Chr X, 18969253: 18969255
7PHKA2NM_000292.2(PHKA2): c.896A> G (p.Asp299Gly)single nucleotide variantPathogenicrs137852289GRCh37Chr X, 18958135: 18958135
8PHKA2NM_000292.2(PHKA2): c.883C> T (p.Arg295Cys)single nucleotide variantPathogenicrs797045008GRCh37Chr X, 18958148: 18958148

Expression for genes affiliated with Glycogen Storage Disease, Type Ixa1

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

Pathways for genes affiliated with Glycogen Storage Disease, Type Ixa1

About this section

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

About this section

Sources for Glycogen Storage Disease, Type Ixa1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet