MCID: GLY057
MIFTS: 30

Glycogen Storage Disease X

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

Aliases & Classifications for Glycogen Storage Disease X

MalaCards integrated aliases for Glycogen Storage Disease X:

Name: Glycogen Storage Disease X 53 71 13
Myopathy Due to Phosphoglycerate Mutase Deficiency 53 55 71
Glycogen Storage Disease Type X 36 28 69
Muscle Phosphoglycerate Mutase Deficiency 55 71
Pgamm Deficiency 53 71
Gsd10 53 71
Gsd X 53 71
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency 55
Glycogenosis Due to Phosphoglycerate Mutase Deficiency 55
Phosphoglycerate Mutase, Muscle, Deficiency of 53
Gsd Due to Phosphoglycerate Mutase Deficiency 55
Glycogen Storage Disease 10 71
Gsd Type 10 55

Characteristics:

Orphanet epidemiological data:

55

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
glycogen storage disease x:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 261670
Orphanet 55 ORPHA97234
UMLS via Orphanet 70 C0268149
ICD10 via Orphanet 33 E74.0
MedGen 39 C0268149
MeSH 41 D006008
KEGG 36 H01951
UMLS 69 C0268149

Summaries for Glycogen Storage Disease X

UniProtKB/Swiss-Prot : 71 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 myopathy due to phosphoglycerate mutase deficiency, is related to phosphoglycerate mutase deficiency and glycogen storage disease, and has symptoms including exercise-induced myalgia, renal insufficiency and myopathy. 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.

Description from OMIM: 261670

Related Diseases for Glycogen Storage Disease X

Symptoms & Phenotypes for Glycogen Storage Disease X

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 exercise-induced myalgia 31 HP:0003738
2 renal insufficiency 31 HP:0000083
3 myopathy 31 HP:0003198
4 elevated serum creatine phosphokinase 31 HP:0003236
5 exercise intolerance 31 HP:0003546
6 myoglobinuria 31 HP:0002913
7 rhabdomyolysis 31 HP:0003201
8 exercise-induced muscle cramps 31 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

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 28 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:

71
# 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
# 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.266A> C (p.Glu89Ala) single nucleotide variant Pathogenic rs104894030 GRCh37 Chromosome 7, 44104863: 44104863

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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