GSD10
MCID: GLY057
MIFTS: 33

Glycogen Storage Disease X (GSD10)

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

Aliases & Classifications for Glycogen Storage Disease X

MalaCards integrated aliases for Glycogen Storage Disease X:

Name: Glycogen Storage Disease X 58 76 13
Glycogen Storage Disease Type X 38 30 6 74
Myopathy Due to Phosphoglycerate Mutase Deficiency 58 60 76
Muscle Phosphoglycerate Mutase Deficiency 60 76
Pgamm Deficiency 58 76
Gsd10 58 76
Gsd X 58 76
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency 60
Glycogenosis Due to Phosphoglycerate Mutase Deficiency 60
Phosphoglycerate Mutase, Muscle, Deficiency of 58
Gsd Due to Phosphoglycerate Mutase Deficiency 60
Storage Disease, Glycogen, Type X 41
Glycogen Storage Disease 10 76
Gsd Type 10 60

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood or teenage years
symptoms usually induced only by strenuous exercise


HPO:

33
glycogen storage disease x:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 261670
KEGG 38 H01951
MeSH 45 D006008
ICD10 via Orphanet 35 E74.0
UMLS via Orphanet 75 C0268149
Orphanet 60 ORPHA97234
MedGen 43 C0268149
UMLS 74 C0268149

Summaries for Glycogen Storage Disease X

UniProtKB/Swiss-Prot : 76 Glycogen storage disease 10: A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.

MalaCards based summary : Glycogen Storage Disease X, also known as glycogen storage disease type x, is related to glycogen storage disease and phosphoglycerate mutase deficiency, and has symptoms including myalgia An important gene associated with Glycogen Storage Disease X is PGAM2 (Phosphoglycerate Mutase 2), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Glycine, serine and threonine metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver and testes, and related phenotypes are renal insufficiency and myopathy

Description from OMIM: 261670

Related Diseases for Glycogen Storage Disease X

Symptoms & Phenotypes for Glycogen Storage Disease X

Human phenotypes related to Glycogen Storage Disease X:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 33 HP:0000083
2 myopathy 33 HP:0003198
3 exercise intolerance 33 HP:0003546
4 exercise-induced myalgia 33 HP:0003738
5 myoglobinuria 33 HP:0002913
6 rhabdomyolysis 33 HP:0003201
7 exercise-induced muscle cramps 33 HP:0003710
8 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
myalgia
rhabdomyolysis
muscle pain
muscle cramps (also seen in some heterozygotes)
exercise intolerance (also seen in some heterozygotes)
more
Laboratory Abnormalities:
increased serum creatine kinase
decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

Genitourinary Kidneys:
myoglobinuria
pigmenturia
renal failure may occur

Clinical features from OMIM:

261670

UMLS symptoms related to Glycogen Storage Disease X:


myalgia

Drugs & Therapeutics for Glycogen Storage Disease X

Drugs for Glycogen Storage Disease X (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Glycogen Storage Disease X

Genetic Tests for Glycogen Storage Disease X

Genetic tests related to Glycogen Storage Disease X:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Type X 30 PGAM2

Anatomical Context for Glycogen Storage Disease X

MalaCards organs/tissues related to Glycogen Storage Disease X:

42
Liver, Testes

Publications for Glycogen Storage Disease X

Articles related to Glycogen Storage Disease X:

# Title Authors Year
1
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. ( 27612597 )
2016
2
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. ( 10545043 )
1999
3
Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy. ( 8006681 )
1994
4
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. ( 8447317 )
1993
5
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. ( 2987758 )
1985
6
Muscle phosphoglycerate mutase (PGAM) deficiency: a second case. ( 6308514 )
1983
7
Glycogen storage disease type X caused by ochratoxin A in broiler chickens. ( 6940112 )
1981

Variations for Glycogen Storage Disease X

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

76
# Symbol AA change Variation ID SNP ID
1 PGAM2 p.Glu89Ala VAR_006088 rs104894030
2 PGAM2 p.Arg90Trp VAR_006089 rs104894034
3 PGAM2 p.Gly97Asp VAR_013103 rs77938727

ClinVar genetic disease variations for Glycogen Storage Disease X:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 PGAM2 NM_000290.3(PGAM2): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs10250779 GRCh37 Chromosome 7, 44104896: 44104896
2 PGAM2 NM_000290.3(PGAM2): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs10250779 GRCh38 Chromosome 7, 44065297: 44065297
3 PGAM2 NM_000290.3(PGAM2): c.266A> C (p.Glu89Ala) single nucleotide variant Pathogenic rs104894030 GRCh37 Chromosome 7, 44104863: 44104863
4 PGAM2 NM_000290.3(PGAM2): c.266A> C (p.Glu89Ala) single nucleotide variant Pathogenic rs104894030 GRCh38 Chromosome 7, 44065264: 44065264
5 PGAM2 NM_000290.3(PGAM2): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs104894034 GRCh37 Chromosome 7, 44104861: 44104861
6 PGAM2 NM_000290.3(PGAM2): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs104894034 GRCh38 Chromosome 7, 44065262: 44065262
7 PGAM2 NM_000290.3(PGAM2): c.290G> A (p.Gly97Asp) single nucleotide variant Uncertain significance rs77938727 GRCh37 Chromosome 7, 44104839: 44104839
8 PGAM2 NM_000290.3(PGAM2): c.290G> A (p.Gly97Asp) single nucleotide variant Uncertain significance rs77938727 GRCh38 Chromosome 7, 44065240: 44065240
9 PGAM2 NM_000290.3(PGAM2): c.216C> T (p.Asp72=) single nucleotide variant Benign/Likely benign rs111656877 GRCh37 Chromosome 7, 44104913: 44104913
10 PGAM2 NM_000290.3(PGAM2): c.216C> T (p.Asp72=) single nucleotide variant Benign/Likely benign rs111656877 GRCh38 Chromosome 7, 44065314: 44065314
11 PGAM2 NM_000290.3(PGAM2): c.375G> A (p.Pro125=) single nucleotide variant Conflicting interpretations of pathogenicity rs145985559 GRCh38 Chromosome 7, 44065155: 44065155
12 PGAM2 NM_000290.3(PGAM2): c.375G> A (p.Pro125=) single nucleotide variant Conflicting interpretations of pathogenicity rs145985559 GRCh37 Chromosome 7, 44104754: 44104754
13 PGAM2 NM_000290.3(PGAM2): c.324G> A (p.Gly108=) single nucleotide variant Benign/Likely benign rs112828964 GRCh38 Chromosome 7, 44065206: 44065206
14 PGAM2 NM_000290.3(PGAM2): c.324G> A (p.Gly108=) single nucleotide variant Benign/Likely benign rs112828964 GRCh37 Chromosome 7, 44104805: 44104805
15 PGAM2 NM_000290.3(PGAM2): c.-32dupG duplication Uncertain significance rs554686318 GRCh37 Chromosome 7, 44105160: 44105160
16 PGAM2 NM_000290.3(PGAM2): c.-32dupG duplication Uncertain significance rs554686318 GRCh38 Chromosome 7, 44065561: 44065561
17 PGAM2 NM_000290.3(PGAM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs142209394 GRCh38 Chromosome 7, 44062800: 44062800
18 PGAM2 NM_000290.3(PGAM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs142209394 GRCh37 Chromosome 7, 44102399: 44102399
19 PGAM2 NM_000290.3(PGAM2): c.596-3T> C single nucleotide variant Uncertain significance rs367994618 GRCh38 Chromosome 7, 44062933: 44062933
20 PGAM2 NM_000290.3(PGAM2): c.596-3T> C single nucleotide variant Uncertain significance rs367994618 GRCh37 Chromosome 7, 44102532: 44102532
21 PGAM2 NM_000290.3(PGAM2): c.426C> T (p.Tyr142=) single nucleotide variant Uncertain significance rs376134077 GRCh38 Chromosome 7, 44065001: 44065001
22 PGAM2 NM_000290.3(PGAM2): c.426C> T (p.Tyr142=) single nucleotide variant Uncertain significance rs376134077 GRCh37 Chromosome 7, 44104600: 44104600
23 PGAM2 NM_000290.3(PGAM2): c.459C> T (p.Cys153=) single nucleotide variant Conflicting interpretations of pathogenicity rs143809043 GRCh38 Chromosome 7, 44064968: 44064968
24 PGAM2 NM_000290.3(PGAM2): c.459C> T (p.Cys153=) single nucleotide variant Conflicting interpretations of pathogenicity rs143809043 GRCh37 Chromosome 7, 44104567: 44104567
25 PGAM2 NM_000290.3(PGAM2): c.341T> G (p.Ile114Ser) single nucleotide variant Benign/Likely benign rs61756062 GRCh38 Chromosome 7, 44065189: 44065189
26 PGAM2 NM_000290.3(PGAM2): c.341T> G (p.Ile114Ser) single nucleotide variant Benign/Likely benign rs61756062 GRCh37 Chromosome 7, 44104788: 44104788
27 PGAM2 NM_000290.3(PGAM2): c.-55A> C single nucleotide variant Uncertain significance rs528717273 GRCh37 Chromosome 7, 44105183: 44105183
28 PGAM2 NM_000290.3(PGAM2): c.-55A> C single nucleotide variant Uncertain significance rs528717273 GRCh38 Chromosome 7, 44065584: 44065584
29 PGAM2 NM_000290.3(PGAM2): c.*35A> G single nucleotide variant Uncertain significance rs374509693 GRCh38 Chromosome 7, 44062729: 44062729
30 PGAM2 NM_000290.3(PGAM2): c.*35A> G single nucleotide variant Uncertain significance rs374509693 GRCh37 Chromosome 7, 44102328: 44102328
31 PGAM2 NM_000290.3(PGAM2): c.366G> A (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs143830182 GRCh38 Chromosome 7, 44065164: 44065164
32 PGAM2 NM_000290.3(PGAM2): c.366G> A (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs143830182 GRCh37 Chromosome 7, 44104763: 44104763
33 PGAM2 NM_000290.3(PGAM2): c.244G> T (p.Val82Leu) single nucleotide variant Uncertain significance rs528467394 GRCh38 Chromosome 7, 44065286: 44065286
34 PGAM2 NM_000290.3(PGAM2): c.244G> T (p.Val82Leu) single nucleotide variant Uncertain significance rs528467394 GRCh37 Chromosome 7, 44104885: 44104885
35 PGAM2 NM_000290.3(PGAM2): c.148A> C (p.Met50Leu) single nucleotide variant Uncertain significance rs151308911 GRCh37 Chromosome 7, 44104981: 44104981
36 PGAM2 NM_000290.3(PGAM2): c.148A> C (p.Met50Leu) single nucleotide variant Uncertain significance rs151308911 GRCh38 Chromosome 7, 44065382: 44065382
37 PGAM2 NM_000290.3(PGAM2): c.707A> C (p.Glu236Ala) single nucleotide variant not provided rs140230479 GRCh37 Chromosome 7, 44102418: 44102418
38 PGAM2 NM_000290.3(PGAM2): c.707A> C (p.Glu236Ala) single nucleotide variant not provided rs140230479 GRCh38 Chromosome 7, 44062819: 44062819
39 PGAM2 NM_000290.3(PGAM2): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs140545494 GRCh37 Chromosome 7, 44105010: 44105010
40 PGAM2 NM_000290.3(PGAM2): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs140545494 GRCh38 Chromosome 7, 44065411: 44065411
41 PGAM2 NM_000290.3(PGAM2): c.533delG (p.Gly178Alafs) deletion Likely pathogenic GRCh37 Chromosome 7, 44104493: 44104493
42 PGAM2 NM_000290.3(PGAM2): c.533delG (p.Gly178Alafs) deletion Likely pathogenic GRCh38 Chromosome 7, 44064894: 44064894

Expression for Glycogen Storage Disease X

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

Pathways for Glycogen Storage Disease X

Pathways related to Glycogen Storage Disease X according to KEGG:

38
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Glycine, serine and threonine metabolism hsa00260
3 Glucagon signaling pathway hsa04922

GO Terms for Glycogen Storage Disease X

Sources for Glycogen Storage Disease X

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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