MCID: GLY099
MIFTS: 30

Glycogen Storage Disease Ixa1

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Glycogen Storage Disease Ixa1

MalaCards integrated aliases for Glycogen Storage Disease Ixa1:

Name: Glycogen Storage Disease Ixa1 57 75 73
Glycogen Storage Disease, Type Ixa2 57 73
Glycogen Storage Disease, Type Ixa1 57 13
Glycogen Storage Disease Type Ixa1 29 6
Glycogen Storage Disease Ixa2 75 6
Gsd9a1 57 75
Liver Glycogenosis, X-Linked, Type I; Xlg1 57
Glycogen Storage Disease Viii, Formerly 57
Hepatic Phosphorylase Kinase Deficiency 75
Liver Glycogenosis, X-Linked, Type I 57
Storage Disease, Glycogen, Type Ixa1 40
X-Linked Liver Glycogenosis Type Ii 75
Gsd Viii, Formerly; Gsd8, Formerly 57
Glycogen Storage Disease Type Viii 73
X-Linked Liver Glycogenosis Type I 75
Glycogen Storage Disease, Type Ix 73
Glycogen Storage Disease Viii 75
Glycogen Storage Disease Ixa 75
Glycogen Storage Disease Via 75
Glycogen Storage Disease 9a 75
X-Linked Liver Glycogenosis 75
Gsd Viii, Formerly 57
Gsd8, Formerly 57
Gsd-Viii 75
Gsd-Ixa 75
Gsd-Via 75
Gsd9a2 75
Gsd9a 75
Xlg1 57
Xlg 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
clinical and biochemical abnormalities disappear with age


HPO:

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


Classifications:



Summaries for Glycogen Storage Disease Ixa1

OMIM : 57 Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; 172490), gamma (PHKG2; 172471), and delta (CALM1; 114180). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (261750), and GSD9C (613027), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive. GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007). See also X-linked muscle PHK deficiency (GSD9D; 300559), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; 311870). (306000)

MalaCards based summary : Glycogen Storage Disease Ixa1, also known as glycogen storage disease, type ixa2, is related to glycogen storage disease ixa and glycogen storage disease viii. An important gene associated with Glycogen Storage Disease Ixa1 is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver, and related phenotypes are hepatomegaly and hypoglycemia

UniProtKB/Swiss-Prot : 75 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 Ixa1

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

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ixa 12.4
2 glycogen storage disease viii 12.3
3 glycogen storage disease due to liver phosphorylase kinase deficiency 10.9
4 phosphorylase kinase deficiency 10.3
5 aging 10.2
6 glycogen storage disease 10.1
7 hepatitis 10.0
8 type i 10.0

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



Diseases related to Glycogen Storage Disease Ixa1

Symptoms & Phenotypes for Glycogen Storage Disease Ixa1

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
growth retardation
normal final adult height

Neurologic Central Nervous System:
mild motor development delay

Abdomen Liver:
hepatomegaly
liver histology reveals glycogen-distended hepatocytes

Laboratory Abnormalities:
liver phosphorylase kinase (phk) deficiency
phosphorylase kinase normal in muscle
variable hypoglycemia
mild elevation of transaminases
mild elevation of cholesterol
more

Clinical features from OMIM:

306000

Human phenotypes related to Glycogen Storage Disease Ixa1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 hypoglycemia 32 frequent (33%) 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 Ixa1

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

Genetic Tests for Glycogen Storage Disease Ixa1

Genetic tests related to Glycogen Storage Disease Ixa1:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ixa1 29 PHKA2

Anatomical Context for Glycogen Storage Disease Ixa1

MalaCards organs/tissues related to Glycogen Storage Disease Ixa1:

41
Liver

Publications for Glycogen Storage Disease Ixa1

Articles related to Glycogen Storage Disease Ixa1:

# Title Authors Year
1
Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency). ( 17581768 )
2007
2
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. ( 12862311 )
2003
3
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes. ( 8830182 )
1996
4
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. ( 7957405 )
1994
5
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. ( 3459948 )
1986
6
Hepatic phosphorylase kinase deficiency: a survey of phosphorylase kinase activity in erythrocytes. ( 739734 )
1978
7
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. ( 4518931 )
1973

Variations for Glycogen Storage Disease Ixa1

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

75 (show all 17)
# 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 Ixa1:

6
(show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHKA2 NM_000292.2(PHKA2): c.717+1G> T single nucleotide variant Pathogenic rs587776731 GRCh37 Chromosome X, 18961827: 18961827
2 PHKA2 NM_000292.2(PHKA2): c.717+1G> T single nucleotide variant Pathogenic rs587776731 GRCh38 Chromosome X, 18943709: 18943709
3 PHKA2 NM_000292.2(PHKA2): c.3025C> T (p.Gln1009Ter) single nucleotide variant Pathogenic rs137852285 GRCh37 Chromosome X, 18919605: 18919605
4 PHKA2 NM_000292.2(PHKA2): c.3025C> T (p.Gln1009Ter) single nucleotide variant Pathogenic rs137852285 GRCh38 Chromosome X, 18901487: 18901487
5 PHKA2 NM_000292.2(PHKA2): c.2296C> T (p.Gln766Ter) single nucleotide variant Pathogenic rs137852286 GRCh37 Chromosome X, 18926983: 18926983
6 PHKA2 NM_000292.2(PHKA2): c.2296C> T (p.Gln766Ter) single nucleotide variant Pathogenic rs137852286 GRCh38 Chromosome X, 18908865: 18908865
7 PHKA2 NM_000292.2(PHKA2): c.3146C> A (p.Ser1049Ter) single nucleotide variant Pathogenic rs137852287 GRCh37 Chromosome X, 18915417: 18915417
8 PHKA2 NM_000292.2(PHKA2): c.3146C> A (p.Ser1049Ter) single nucleotide variant Pathogenic rs137852287 GRCh38 Chromosome X, 18897299: 18897299
9 PHKA2 NM_000292.2(PHKA2): c.3614C> T (p.Pro1205Leu) single nucleotide variant Pathogenic rs137852288 GRCh37 Chromosome X, 18911697: 18911697
10 PHKA2 NM_000292.2(PHKA2): c.3614C> T (p.Pro1205Leu) single nucleotide variant Pathogenic rs137852288 GRCh38 Chromosome X, 18893579: 18893579
11 PHKA2 NM_000292.2(PHKA2): c.421_423delTTC (p.Phe141del) deletion Pathogenic rs587776732 GRCh37 Chromosome X, 18969253: 18969255
12 PHKA2 NM_000292.2(PHKA2): c.421_423delTTC (p.Phe141del) deletion Pathogenic rs587776732 GRCh38 Chromosome X, 18951135: 18951137
13 PHKA2 NM_000292.2(PHKA2): c.3341C> T (p.Thr1114Ile) single nucleotide variant Likely pathogenic rs137852293 GRCh37 Chromosome X, 18912518: 18912518
14 PHKA2 NM_000292.2(PHKA2): c.3341C> T (p.Thr1114Ile) single nucleotide variant Likely pathogenic rs137852293 GRCh38 Chromosome X, 18894400: 18894400
15 PHKA2 NM_000292.2(PHKA2): c.896A> G (p.Asp299Gly) single nucleotide variant Pathogenic rs137852289 GRCh37 Chromosome X, 18958135: 18958135
16 PHKA2 NM_000292.2(PHKA2): c.896A> G (p.Asp299Gly) single nucleotide variant Pathogenic rs137852289 GRCh38 Chromosome X, 18940017: 18940017
17 PHKA2 NM_000292.2(PHKA2): c.557G> A (p.Arg186His) single nucleotide variant Likely pathogenic rs137852290 GRCh37 Chromosome X, 18963257: 18963257
18 PHKA2 NM_000292.2(PHKA2): c.557G> A (p.Arg186His) single nucleotide variant Likely pathogenic rs137852290 GRCh38 Chromosome X, 18945139: 18945139
19 PHKA2 NM_000292.2(PHKA2): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs137852291 GRCh37 Chromosome X, 18969281: 18969281
20 PHKA2 NM_000292.2(PHKA2): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs137852291 GRCh38 Chromosome X, 18951163: 18951163
21 PHKA2 NM_000292.2(PHKA2): c.394C> T (p.His132Tyr) single nucleotide variant Pathogenic rs137852292 GRCh37 Chromosome X, 18969282: 18969282
22 PHKA2 NM_000292.2(PHKA2): c.394C> T (p.His132Tyr) single nucleotide variant Pathogenic rs137852292 GRCh38 Chromosome X, 18951164: 18951164
23 PHKA2 NM_000292.2(PHKA2): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs137852294 GRCh37 Chromosome X, 18963258: 18963258
24 PHKA2 NM_000292.2(PHKA2): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs137852294 GRCh38 Chromosome X, 18945140: 18945140
25 PHKA2 NM_000292.2(PHKA2): c.750_752delGAC (p.Thr251del) deletion Pathogenic rs587776733 GRCh37 Chromosome X, 18959759: 18959761
26 PHKA2 NM_000292.2(PHKA2): c.750_752delGAC (p.Thr251del) deletion Pathogenic rs587776733 GRCh38 Chromosome X, 18941641: 18941643
27 PHKA2 PHKA2, 6-BP INS, NT3331 insertion Pathogenic
28 PHKA2 NM_000292.2(PHKA2): c.565A> G (p.Lys189Glu) single nucleotide variant Pathogenic rs137852295 GRCh37 Chromosome X, 18963249: 18963249
29 PHKA2 NM_000292.2(PHKA2): c.565A> G (p.Lys189Glu) single nucleotide variant Pathogenic rs137852295 GRCh38 Chromosome X, 18945131: 18945131
30 PHKA2 NM_000292.2(PHKA2): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic rs797045008 GRCh37 Chromosome X, 18958148: 18958148
31 PHKA2 NM_000292.2(PHKA2): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic rs797045008 GRCh38 Chromosome X, 18940030: 18940030
32 PHKA2 NM_000292.2(PHKA2): c.2532G> A (p.Leu844=) single nucleotide variant Benign rs61729452 GRCh37 Chromosome X, 18925201: 18925201
33 PHKA2 NM_000292.2(PHKA2): c.2532G> A (p.Leu844=) single nucleotide variant Benign rs61729452 GRCh38 Chromosome X, 18907083: 18907083
34 PHKA2 NM_000292.2(PHKA2): c.2436G> A (p.Gly812=) single nucleotide variant Benign rs61733281 GRCh37 Chromosome X, 18926099: 18926099
35 PHKA2 NM_000292.2(PHKA2): c.2436G> A (p.Gly812=) single nucleotide variant Benign rs61733281 GRCh38 Chromosome X, 18907981: 18907981
36 PHKA2 NM_000292.2(PHKA2): c.2077A> G (p.Ile693Val) single nucleotide variant Benign rs143732206 GRCh37 Chromosome X, 18936859: 18936859
37 PHKA2 NM_000292.2(PHKA2): c.2077A> G (p.Ile693Val) single nucleotide variant Benign rs143732206 GRCh38 Chromosome X, 18918741: 18918741
38 PHKA2 NM_000292.2(PHKA2): c.1952C> A (p.Thr651Asn) single nucleotide variant Benign rs149991825 GRCh37 Chromosome X, 18938161: 18938161
39 PHKA2 NM_000292.2(PHKA2): c.1952C> A (p.Thr651Asn) single nucleotide variant Benign rs149991825 GRCh38 Chromosome X, 18920043: 18920043
40 PHKA2 NM_000292.2(PHKA2): c.718-3C> T single nucleotide variant Benign rs140662042 GRCh37 Chromosome X, 18959796: 18959796
41 PHKA2 NM_000292.2(PHKA2): c.718-3C> T single nucleotide variant Benign rs140662042 GRCh38 Chromosome X, 18941678: 18941678
42 PHKA2 NM_000292.2(PHKA2): c.112G> C (p.Glu38Gln) single nucleotide variant Benign rs17313469 GRCh37 Chromosome X, 18972497: 18972497
43 PHKA2 NM_000292.2(PHKA2): c.112G> C (p.Glu38Gln) single nucleotide variant Benign rs17313469 GRCh38 Chromosome X, 18954379: 18954379
44 PHKA2 NM_000292.2(PHKA2): c.1398G> A (p.Ala466=) single nucleotide variant Likely benign rs146631734 GRCh38 Chromosome X, 18926514: 18926514
45 PHKA2 NM_000292.2(PHKA2): c.1398G> A (p.Ala466=) single nucleotide variant Likely benign rs146631734 GRCh37 Chromosome X, 18944632: 18944632
46 PHKA2 NM_000292.2(PHKA2): c.2137+5G> A single nucleotide variant not provided rs372314504 GRCh37 Chromosome X, 18936794: 18936794
47 PHKA2 NM_000292.2(PHKA2): c.2137+5G> A single nucleotide variant not provided rs372314504 GRCh38 Chromosome X, 18918676: 18918676
48 PHKA2 NM_000292.2(PHKA2): c.128G> C (p.Trp43Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 18972481: 18972481
49 PHKA2 NM_000292.2(PHKA2): c.128G> C (p.Trp43Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 18954363: 18954363
50 PHKA2 NM_000292.2(PHKA2): c.3210_3212delGAG (p.Arg1072del) deletion Likely pathogenic GRCh37 Chromosome X, 18915351: 18915353

Expression for Glycogen Storage Disease Ixa1

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

Pathways for Glycogen Storage Disease Ixa1

GO Terms for Glycogen Storage Disease Ixa1

Sources for Glycogen Storage Disease Ixa1

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11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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