MCID: GLY057
MIFTS: 29

Glycogen Storage Disease X

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

Aliases & Classifications for Glycogen Storage Disease X

MalaCards integrated aliases for Glycogen Storage Disease X:

Name: Glycogen Storage Disease X 57 75 13
Glycogen Storage Disease Type X 37 29 6 73
Myopathy Due to Phosphoglycerate Mutase Deficiency 57 59 75
Muscle Phosphoglycerate Mutase Deficiency 59 75
Pgamm Deficiency 57 75
Gsd10 57 75
Gsd X 57 75
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency 59
Glycogenosis Due to Phosphoglycerate Mutase Deficiency 59
Phosphoglycerate Mutase, Muscle, Deficiency of 57
Gsd Due to Phosphoglycerate Mutase Deficiency 59
Storage Disease, Glycogen, Type X 40
Glycogen Storage Disease 10 75
Gsd Type 10 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
glycogen storage disease x:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 261670
Orphanet 59 ORPHA97234
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 74 C0268149
MedGen 42 C0268149
MeSH 44 D006008
KEGG 37 H01951
UMLS 73 C0268149

Summaries for Glycogen Storage Disease X

UniProtKB/Swiss-Prot : 75 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. 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
myoglobinuria
pigmenturia
renal failure may occur

Laboratory Abnormalities:
increased serum creatine kinase
decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

Muscle Soft Tissue:
muscle cramps (also seen in some heterozygotes)
exercise intolerance (also seen in some heterozygotes)
myalgia
muscle pain
rhabdomyolysis
more

Clinical features from OMIM:

261670

Human phenotypes related to Glycogen Storage Disease X:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 myopathy 32 HP:0003198
3 elevated serum creatine phosphokinase 32 HP:0003236
4 exercise intolerance 32 HP:0003546
5 exercise-induced myalgia 32 HP:0003738
6 myoglobinuria 32 HP:0002913
7 rhabdomyolysis 32 HP:0003201
8 exercise-induced muscle cramps 32 HP:0003710

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 29 PGAM2

Anatomical Context for Glycogen Storage Disease X

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

Variations for Glycogen Storage Disease X

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

75
# 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 36)
# 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.216C> T (p.Asp72=) single nucleotide variant Benign/Likely benign rs111656877 GRCh37 Chromosome 7, 44104913: 44104913
6 PGAM2 NM_000290.3(PGAM2): c.216C> T (p.Asp72=) single nucleotide variant Benign/Likely benign rs111656877 GRCh38 Chromosome 7, 44065314: 44065314
7 PGAM2 NM_000290.3(PGAM2): c.375G> A (p.Pro125=) single nucleotide variant Conflicting interpretations of pathogenicity rs145985559 GRCh37 Chromosome 7, 44104754: 44104754
8 PGAM2 NM_000290.3(PGAM2): c.375G> A (p.Pro125=) single nucleotide variant Conflicting interpretations of pathogenicity rs145985559 GRCh38 Chromosome 7, 44065155: 44065155
9 PGAM2 NM_000290.3(PGAM2): c.324G> A (p.Gly108=) single nucleotide variant Benign/Likely benign rs112828964 GRCh37 Chromosome 7, 44104805: 44104805
10 PGAM2 NM_000290.3(PGAM2): c.324G> A (p.Gly108=) single nucleotide variant Benign/Likely benign rs112828964 GRCh38 Chromosome 7, 44065206: 44065206
11 PGAM2 NM_000290.3(PGAM2): c.-32dupG duplication Uncertain significance rs554686318 GRCh37 Chromosome 7, 44105160: 44105160
12 PGAM2 NM_000290.3(PGAM2): c.-32dupG duplication Uncertain significance rs554686318 GRCh38 Chromosome 7, 44065561: 44065561
13 PGAM2 NM_000290.3(PGAM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs142209394 GRCh37 Chromosome 7, 44102399: 44102399
14 PGAM2 NM_000290.3(PGAM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs142209394 GRCh38 Chromosome 7, 44062800: 44062800
15 PGAM2 NM_000290.3(PGAM2): c.596-3T> C single nucleotide variant Uncertain significance rs367994618 GRCh37 Chromosome 7, 44102532: 44102532
16 PGAM2 NM_000290.3(PGAM2): c.596-3T> C single nucleotide variant Uncertain significance rs367994618 GRCh38 Chromosome 7, 44062933: 44062933
17 PGAM2 NM_000290.3(PGAM2): c.426C> T (p.Tyr142=) single nucleotide variant Uncertain significance rs376134077 GRCh37 Chromosome 7, 44104600: 44104600
18 PGAM2 NM_000290.3(PGAM2): c.426C> T (p.Tyr142=) single nucleotide variant Uncertain significance rs376134077 GRCh38 Chromosome 7, 44065001: 44065001
19 PGAM2 NM_000290.3(PGAM2): c.459C> T (p.Cys153=) single nucleotide variant Conflicting interpretations of pathogenicity rs143809043 GRCh37 Chromosome 7, 44104567: 44104567
20 PGAM2 NM_000290.3(PGAM2): c.459C> T (p.Cys153=) single nucleotide variant Conflicting interpretations of pathogenicity rs143809043 GRCh38 Chromosome 7, 44064968: 44064968
21 PGAM2 NM_000290.3(PGAM2): c.341T> G (p.Ile114Ser) single nucleotide variant Benign/Likely benign rs61756062 GRCh37 Chromosome 7, 44104788: 44104788
22 PGAM2 NM_000290.3(PGAM2): c.341T> G (p.Ile114Ser) single nucleotide variant Benign/Likely benign rs61756062 GRCh38 Chromosome 7, 44065189: 44065189
23 PGAM2 NM_000290.3(PGAM2): c.-55A> C single nucleotide variant Uncertain significance rs528717273 GRCh37 Chromosome 7, 44105183: 44105183
24 PGAM2 NM_000290.3(PGAM2): c.-55A> C single nucleotide variant Uncertain significance rs528717273 GRCh38 Chromosome 7, 44065584: 44065584
25 PGAM2 NM_000290.3(PGAM2): c.*35A> G single nucleotide variant Uncertain significance rs374509693 GRCh37 Chromosome 7, 44102328: 44102328
26 PGAM2 NM_000290.3(PGAM2): c.*35A> G single nucleotide variant Uncertain significance rs374509693 GRCh38 Chromosome 7, 44062729: 44062729
27 PGAM2 NM_000290.3(PGAM2): c.366G> A (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs143830182 GRCh37 Chromosome 7, 44104763: 44104763
28 PGAM2 NM_000290.3(PGAM2): c.366G> A (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs143830182 GRCh38 Chromosome 7, 44065164: 44065164
29 PGAM2 NM_000290.3(PGAM2): c.244G> T (p.Val82Leu) single nucleotide variant Uncertain significance rs528467394 GRCh37 Chromosome 7, 44104885: 44104885
30 PGAM2 NM_000290.3(PGAM2): c.244G> T (p.Val82Leu) single nucleotide variant Uncertain significance rs528467394 GRCh38 Chromosome 7, 44065286: 44065286
31 PGAM2 NM_000290.3(PGAM2): c.148A> C (p.Met50Leu) single nucleotide variant Uncertain significance rs151308911 GRCh37 Chromosome 7, 44104981: 44104981
32 PGAM2 NM_000290.3(PGAM2): c.148A> C (p.Met50Leu) single nucleotide variant Uncertain significance rs151308911 GRCh38 Chromosome 7, 44065382: 44065382
33 PGAM2 NM_000290.3(PGAM2): c.707A> C (p.Glu236Ala) single nucleotide variant not provided rs140230479 GRCh37 Chromosome 7, 44102418: 44102418
34 PGAM2 NM_000290.3(PGAM2): c.707A> C (p.Glu236Ala) single nucleotide variant not provided rs140230479 GRCh38 Chromosome 7, 44062819: 44062819
35 PGAM2 NM_000290.3(PGAM2): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs140545494 GRCh37 Chromosome 7, 44105010: 44105010
36 PGAM2 NM_000290.3(PGAM2): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs140545494 GRCh38 Chromosome 7, 44065411: 44065411

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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