Glycogen Storage Disease Viii (PYKL)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease Viii

MalaCards integrated aliases for Glycogen Storage Disease Viii:

Name: Glycogen Storage Disease Viii 12 20 15 17
Glycogen Storage Disease Type Viii 12 73 44 70
Glycogen Storage Disease 8 20 6
Glycogenosis Type Viii 12 73
Hepatic Glycogen Phosphorylase Kinase Deficiency 12
Phosphorylase Kinase Deficiency of Liver 20
Hepatic Phosphorylase Kinase Deficiency 20
Glycogen Storage Disease, Type Ix 70
Glycogenosis Type 8 20
Pykl 20


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Disease Ontology 12 DOID:2751
MeSH 44 D006015
SNOMED-CT 67 41527003
UMLS 70 C0017927 C0268147

Summaries for Glycogen Storage Disease Viii

MalaCards based summary : Glycogen Storage Disease Viii, also known as glycogen storage disease type viii, is related to glycogen storage disease ixb and glycogen storage disease ixa1. An important gene associated with Glycogen Storage Disease Viii is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include liver, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency... more...

Related Diseases for Glycogen Storage Disease Viii

Graphical network of the top 20 diseases related to Glycogen Storage Disease Viii:

Diseases related to Glycogen Storage Disease Viii

Symptoms & Phenotypes for Glycogen Storage Disease Viii

GenomeRNAi Phenotypes related to Glycogen Storage Disease Viii according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.28 PHKA2
2 Decreased viability GR00221-A-2 9.28 PHKA1 PHKA2
3 Decreased viability GR00221-A-3 9.28 PHKA1 PHKA2
4 Decreased viability GR00221-A-4 9.28 PHKA2
5 Decreased viability GR00342-S-1 9.28 PHKA2
6 Decreased viability GR00342-S-2 9.28 PHKA2
7 Decreased viability GR00342-S-3 9.28 PHKA2

Drugs & Therapeutics for Glycogen Storage Disease Viii

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX Recruiting NCT04454216
2 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162

Search NIH Clinical Center for Glycogen Storage Disease Viii

Cochrane evidence based reviews: glycogen storage disease type viii

Genetic Tests for Glycogen Storage Disease Viii

Anatomical Context for Glycogen Storage Disease Viii

MalaCards organs/tissues related to Glycogen Storage Disease Viii:


Publications for Glycogen Storage Disease Viii

Articles related to Glycogen Storage Disease Viii:

(show all 29)
# Title Authors PMID Year
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. 6
31508908 2019
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 6
28468868 2017
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. 6
28627441 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. 6
27103379 2016
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. 6
25070466 2015
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 6
25266922 2014
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. 6
24055370 2013
Aggressive therapy improves cirrhosis in glycogen storage disease type IX. 6
23578772 2013
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 6
22899091 2013
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. 6
21911307 2011
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 6
21646031 2011
Phosphorylase Kinase Deficiency 6
21634085 2011
Glycogen storage disease type IX: High variability in clinical phenotype. 6
17689125 2007
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. 6
12862311 2003
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. 6
10330341 1999
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. 6
9870210 1998
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. 6
9835437 1998
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. 6
9600238 1998
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. 6
8733133 1996
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). 6
8733134 1996
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. 6
7847371 1995
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. 6
7711737 1995
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). 6
7959740 1994
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. 6
2303074 1990
X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. 6
5306139 1969
[Glycogen storage disease type VIII]. 61
9589988 1998
Molecular and metabolic aspects of lysosomal glycogen. 61
1499032 1992
[A case of glycogen storage disease type VIII found at the age of 62]. 61
3054209 1988

Variations for Glycogen Storage Disease Viii

ClinVar genetic disease variations for Glycogen Storage Disease Viii:

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHKA2 NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) SNV Pathogenic 10527 rs137852285 GRCh37: X:18919605-18919605
GRCh38: X:18901487-18901487
2 PHKA2 NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) SNV Pathogenic 10528 rs137852286 GRCh37: X:18926983-18926983
GRCh38: X:18908865-18908865
3 PHKA2 NM_000292.3(PHKA2):c.717+1G>T SNV Pathogenic 10529 rs587776731 GRCh37: X:18961827-18961827
GRCh38: X:18943709-18943709
4 PHKA2 NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) SNV Pathogenic 10530 rs137852287 GRCh37: X:18915417-18915417
GRCh38: X:18897299-18897299
5 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) SNV Pathogenic 10531 rs137852288 GRCh37: X:18911697-18911697
GRCh38: X:18893579-18893579
6 PHKA2 NM_000292.3(PHKA2):c.421_423del (p.Phe141del) Deletion Pathogenic 10532 rs587776732 GRCh37: X:18969253-18969255
GRCh38: X:18951135-18951137
7 PHKA2 NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) SNV Pathogenic 10534 rs137852289 GRCh37: X:18958135-18958135
GRCh38: X:18940017-18940017
8 PHKA2 NM_000292.3(PHKA2):c.884G>A (p.Arg295His) SNV Pathogenic 208676 rs797044877 GRCh37: X:18958147-18958147
GRCh38: X:18940029-18940029
9 PHKA2 NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) SNV Pathogenic 575608 rs1569300538 GRCh37: X:18929007-18929007
GRCh38: X:18910889-18910889
10 PHKA2 NM_000292.3(PHKA2):c.2465del (p.Leu822fs) Deletion Pathogenic 578458 rs1569298646 GRCh37: X:18926070-18926070
GRCh38: X:18907952-18907952
11 PHKA2 NC_000023.11:g.(?_18920012)_(18920221_?)del Deletion Pathogenic 583617 GRCh37: X:18938130-18938339
GRCh38: X:18920012-18920221
12 PHKA2 NM_000292.3(PHKA2):c.1794-8_1812del Deletion Pathogenic 526623 rs1556000892 GRCh37: X:18938301-18938327
GRCh38: X:18920183-18920209
13 PHKA2 NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) SNV Pathogenic 526624 rs1556007472 GRCh37: X:18954256-18954256
GRCh38: X:18936138-18936138
14 PHKA2 NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) Deletion Pathogenic 568551 rs1569297379 GRCh37: X:18924637-18924647
GRCh38: X:18906519-18906529
15 PHKA2 NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) SNV Pathogenic 649460 rs1601739229 GRCh37: X:18943809-18943809
GRCh38: X:18925691-18925691
16 PHKA2 NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) SNV Pathogenic 655569 rs1601689006 GRCh37: X:18913261-18913261
GRCh38: X:18895143-18895143
17 PHKA2 NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) Duplication Pathogenic 694636 rs1601714299 GRCh37: X:18927010-18927011
GRCh38: X:18908892-18908893
18 PHKA2 NM_000292.3(PHKA2):c.918+1G>A SNV Pathogenic 694638 rs1601760689 GRCh37: X:18958112-18958112
GRCh38: X:18939994-18939994
19 PHKA2 NM_000292.3(PHKA2):c.718-2A>G SNV Pathogenic 694641 rs1601763099 GRCh37: X:18959795-18959795
GRCh38: X:18941677-18941677
20 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) SNV Pathogenic 803725 rs1601687244 GRCh37: X:18912462-18912462
GRCh38: X:18894344-18894344
21 PHKA2 NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) Deletion Pathogenic 803730 rs1601776523 GRCh37: X:18969359-18969362
GRCh38: X:18951241-18951244
22 PHKA2 NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) SNV Pathogenic 807651 rs1601780766 GRCh37: X:18972374-18972374
GRCh38: X:18954256-18954256
23 PHKA2 NC_000023.11:g.(?_18929208)_(18983952_?)del Deletion Pathogenic 833058 GRCh37: X:18947326-19002070
24 PHKA2 NM_000292.3(PHKA2):c.1138-2A>G SNV Pathogenic 803728 rs1601748216 GRCh37: X:18949868-18949868
GRCh38: X:18931750-18931750
25 PHKA2 NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) SNV Pathogenic 947434 GRCh37: X:18949799-18949799
GRCh38: X:18931681-18931681
26 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter) SNV Pathogenic 845671 GRCh37: X:18912482-18912482
GRCh38: X:18894364-18894364
27 PHKA2 NM_000292.3(PHKA2):c.93del (p.Leu32fs) Deletion Pathogenic 933869 GRCh37: X:18972516-18972516
GRCh38: X:18954398-18954398
28 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) SNV Pathogenic 1028673 GRCh37: X:18912330-18912330
GRCh38: X:18894212-18894212
29 PHKA2 NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) SNV Pathogenic 10537 rs137852292 GRCh37: X:18969282-18969282
GRCh38: X:18951164-18951164
30 PHKA2 NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) SNV Pathogenic/Likely pathogenic 644261 rs1601781031 GRCh37: X:18972476-18972476
GRCh38: X:18954358-18954358
31 PHKA2 NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) Deletion Likely pathogenic 567305 rs1569344469 GRCh37: X:19002049-19002059
GRCh38: X:18983931-18983941
32 PHKA2 NM_000292.3(PHKA2):c.2597+1G>A SNV Likely pathogenic 566477 rs1210626722 GRCh37: X:18925135-18925135
GRCh38: X:18907017-18907017
33 PHKA2 NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) SNV Likely pathogenic 10538 rs137852294 GRCh37: X:18963258-18963258
GRCh38: X:18945140-18945140
34 PHKA2 NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) SNV Likely pathogenic 208493 rs797045008 GRCh37: X:18958148-18958148
GRCh38: X:18940030-18940030
35 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) SNV Likely pathogenic 10533 rs137852293 GRCh37: X:18912518-18912518
GRCh38: X:18894400-18894400
36 PHKA2 NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) SNV Likely pathogenic 488576 rs1556016365 GRCh37: X:18972481-18972481
GRCh38: X:18954363-18954363
37 PHKA2 NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) SNV Likely pathogenic 522501 rs1556014969 GRCh37: X:18969261-18969261
GRCh38: X:18951143-18951143
38 PHKA2 NM_000292.3(PHKA2):c.1714+1G>A SNV Likely pathogenic 526620 rs1556002344 GRCh37: X:18942498-18942498
GRCh38: X:18924380-18924380
39 PHKA2 NM_000292.3(PHKA2):c.557G>A (p.Arg186His) SNV Likely pathogenic 10535 rs137852290 GRCh37: X:18963257-18963257
GRCh38: X:18945139-18945139
40 PHKA2 NM_000292.3(PHKA2):c.3336+2T>A SNV Likely pathogenic 526621 rs1555988479 GRCh37: X:18913254-18913254
GRCh38: X:18895136-18895136
41 PHKA2 NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) SNV Likely pathogenic 803729 rs797044877 GRCh37: X:18958147-18958147
GRCh38: X:18940029-18940029
42 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3644_3646dup (p.Thr1216_Arg1217insIle) Duplication Likely pathogenic 841087 GRCh37: X:18911664-18911665
GRCh38: X:18893546-18893547
43 PHKA2 NM_000292.3(PHKA2):c.1042-1G>A SNV Likely pathogenic 841380 GRCh37: X:18954269-18954269
GRCh38: X:18936151-18936151
44 PHKA2 NC_000023.11:g.18895137dup Duplication Likely pathogenic 839048 GRCh37: X:18913254-18913255
GRCh38: X:18895136-18895137
45 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) SNV Likely pathogenic 208738 rs797044921 GRCh37: X:18912476-18912476
GRCh38: X:18894358-18894358
46 PHKA2 NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) Indel Likely pathogenic 694639 rs1601776276 GRCh37: X:18969257-18969271
GRCh38: X:18951139-18951153
47 PHKA2 NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) SNV Likely pathogenic 694640 rs1601747985 GRCh37: X:18949759-18949759
GRCh38: X:18931641-18931641
48 PHKA2 NM_000292.3(PHKA2):c.285+2_285+5del Deletion Likely pathogenic 937363 GRCh37: X:18970607-18970610
GRCh38: X:18952489-18952492
49 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs) Insertion Likely pathogenic 940284 GRCh37: X:18912434-18912435
GRCh38: X:18894316-18894317
50 PHKA2 NM_000292.3(PHKA2):c.3283-1G>C SNV Likely pathogenic 940531 GRCh37: X:18913310-18913310
GRCh38: X:18895192-18895192

Expression for Glycogen Storage Disease Viii

Search GEO for disease gene expression data for Glycogen Storage Disease Viii.

Pathways for Glycogen Storage Disease Viii

Pathways related to Glycogen Storage Disease Viii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
11.9 PHKA2 PHKA1
6 11.75 PHKA2 PHKA1
7 11.16 PYGB PHKA2 PHKA1
8 10.36 PYGB PHKA2 PHKA1

GO Terms for Glycogen Storage Disease Viii

Cellular components related to Glycogen Storage Disease Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylase kinase complex GO:0005964 8.62 PHKA2 PHKA1

Biological processes related to Glycogen Storage Disease Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.33 PYGB PHKA2 PHKA1
2 generation of precursor metabolites and energy GO:0006091 9.26 PHKA2 PHKA1
3 glycogen metabolic process GO:0005977 9.13 PYGB PHKA2 PHKA1
4 glycogen catabolic process GO:0005980 8.8 PYGB PHKA2 PHKA1

Molecular functions related to Glycogen Storage Disease Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.16 PHKA2 PHKA1
2 catalytic activity GO:0003824 9.13 PYGB PHKA2 PHKA1
3 phosphorylase kinase activity GO:0004689 8.62 PHKA2 PHKA1

Sources for Glycogen Storage Disease Viii

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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