GSD9A
MCID: GLY040
MIFTS: 27

Glycogen Storage Disease, Type Ixa1 (GSD9A) malady

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Glycogen Storage Disease, Type Ixa1

Aliases & Descriptions for Glycogen Storage Disease, Type Ixa1:

Name: Glycogen Storage Disease, Type Ixa1 54 13
Glycogen Storage Disease Ixa1 66 29 69
Glycogen Storage Disease, Type Ixa2 54 69
Hepatic Phosphorylase Kinase Deficiency 66
X-Linked Liver Glycogenosis Type Ii 66
Glycogen Storage Disease Type Viii 69
X-Linked Liver Glycogenosis Type 1 24
X-Linked Liver Glycogenosis Type I 66
Glycogen Storage Disease, Type Ix 69
Glycogen Storage Disease Viii 66
Glycogen Storage Disease Ixa2 66
Glycogen Storage Disease Ixa 66
Glycogen Storage Disease Via 66
X-Linked Liver Glycogenosis 66
Glycogen Storage Disease 9a 66
Gsd-Viii 66
Gsd-Ixa 66
Gsd-Via 66
Gsd9a1 66
Gsd9a2 66
Gsd9a 66
Xlg1 24
Xlg 66

Characteristics:

HPO:

32
glycogen storage disease, type ixa1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 306000
MeSH 42 D006008

Summaries for Glycogen Storage Disease, Type Ixa1

OMIM : 54 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 hepatomegaly, hypoglycemia and hypertriglyceridemia. 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 : 66 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

Diseases related to Glycogen Storage Disease, Type Ixa1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 glycogen storage disease ixa 12.3
2 glycogen storage disease viii 12.2
3 x-linked liver glycogenosis type 2 12.2
4 phka2-related phosphorylase kinase deficiency 11.1
5 glycogen storage disease due to liver phosphorylase kinase deficiency 10.8
6 glycogen storage disease 10.0

Graphical network of the top 20 diseases related to Glycogen Storage Disease, Type Ixa1:



Diseases related to Glycogen Storage Disease, Type Ixa1

Symptoms & Phenotypes for Glycogen Storage Disease, Type Ixa1

Symptoms by clinical synopsis from OMIM:

306000

Clinical features from OMIM:

306000

Human phenotypes related to Glycogen Storage Disease, Type Ixa1:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 hypoglycemia 32 HP:0001943
3 hypertriglyceridemia 32 HP:0002155
4 growth delay 32 HP:0001510
5 elevated hepatic transaminases 32 HP:0002910
6 hypercholesterolemia 32 HP:0003124
7 motor delay 32 HP:0001270
8 ketosis 32 HP:0001946

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa1

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

Genetic Tests for Glycogen Storage Disease, Type Ixa1

Genetic tests related to Glycogen Storage Disease, Type Ixa1:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ixa1 29
2 X-Linked Liver Glycogenosis Type 1 24

Anatomical Context for Glycogen Storage Disease, Type Ixa1

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

39
Liver

Publications for Glycogen Storage Disease, Type Ixa1

Variations for Glycogen Storage Disease, Type Ixa1

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

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 PHKA2 p.His132Pro VAR_006177 rs137852291
2 PHKA2 p.His132Tyr VAR_006178 rs137852292
3 PHKA2 p.Arg186Cys VAR_006180 rs137852294
4 PHKA2 p.Arg186His VAR_006181 rs137852290
5 PHKA2 p.Asp299Gly VAR_006183 rs137852289
6 PHKA2 p.Thr1114Ile VAR_006185 rs137852293
7 PHKA2 p.Pro1205Leu VAR_006186 rs137852288
8 PHKA2 p.Lys189Glu VAR_012269 rs137852295
9 PHKA2 p.Gly193Val VAR_012271
10 PHKA2 p.Arg295His VAR_012272 rs797044877
11 PHKA2 p.Pro399Ser VAR_012273
12 PHKA2 p.Glu1125Lys VAR_012276
13 PHKA2 p.Gly1207Trp VAR_012277
14 PHKA2 p.Pro498Leu VAR_062394 rs199792389
15 PHKA2 p.Pro869Arg VAR_062395 rs777137574
16 PHKA2 p.Arg916Trp VAR_062396
17 PHKA2 p.Met1113Ile VAR_062398

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

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 PHKA2 NM_000292.2(PHKA2): c.3025C> T (p.Gln1009Ter) single nucleotide variant Pathogenic rs137852285 GRCh37 Chromosome X, 18919605: 18919605
2 PHKA2 NM_000292.2(PHKA2): c.2296C> T (p.Gln766Ter) single nucleotide variant Pathogenic rs137852286 GRCh37 Chromosome X, 18926983: 18926983
3 PHKA2 NM_000292.2(PHKA2): c.717+1G> T single nucleotide variant Pathogenic rs587776731 GRCh37 Chromosome X, 18961827: 18961827
4 PHKA2 NM_000292.2(PHKA2): c.3146C> A (p.Ser1049Ter) single nucleotide variant Pathogenic rs137852287 GRCh37 Chromosome X, 18915417: 18915417
5 PHKA2 NM_000292.2(PHKA2): c.3614C> T (p.Pro1205Leu) single nucleotide variant Pathogenic rs137852288 GRCh37 Chromosome X, 18911697: 18911697
6 PHKA2 NM_000292.2(PHKA2): c.421_423delTTC (p.Phe141del) deletion Pathogenic rs587776732 GRCh37 Chromosome X, 18969253: 18969255
7 PHKA2 NM_000292.2(PHKA2): c.3341C> T (p.Thr1114Ile) single nucleotide variant Pathogenic rs137852293 GRCh37 Chromosome X, 18912518: 18912518
8 PHKA2 NM_000292.2(PHKA2): c.896A> G (p.Asp299Gly) single nucleotide variant Pathogenic rs137852289 GRCh37 Chromosome X, 18958135: 18958135
9 PHKA2 NM_000292.2(PHKA2): c.557G> A (p.Arg186His) single nucleotide variant Pathogenic rs137852290 GRCh37 Chromosome X, 18963257: 18963257
10 PHKA2 NM_000292.2(PHKA2): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs137852291 GRCh37 Chromosome X, 18969281: 18969281
11 PHKA2 NM_000292.2(PHKA2): c.394C> T (p.His132Tyr) single nucleotide variant Pathogenic rs137852292 GRCh37 Chromosome X, 18969282: 18969282
12 PHKA2 NM_000292.2(PHKA2): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs137852294 GRCh37 Chromosome X, 18963258: 18963258
13 PHKA2 NM_000292.2(PHKA2): c.750_752delGAC (p.Thr251del) deletion Pathogenic rs587776733 GRCh37 Chromosome X, 18959759: 18959761
14 PHKA2 PHKA2, 6-BP INS, NT3331 insertion Pathogenic
15 PHKA2 NM_000292.2(PHKA2): c.565A> G (p.Lys189Glu) single nucleotide variant Pathogenic rs137852295 GRCh37 Chromosome X, 18963249: 18963249
16 PHKA2 NM_000292.2(PHKA2): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic rs797045008 GRCh37 Chromosome X, 18958148: 18958148

Expression for Glycogen Storage Disease, Type Ixa1

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

Pathways for Glycogen Storage Disease, Type Ixa1

GO Terms for Glycogen Storage Disease, Type Ixa1

Sources for Glycogen Storage Disease, Type Ixa1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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42 MeSH
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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