GSD10
MCID: GLY057
MIFTS: 34

Glycogen Storage Disease X (GSD10)

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 X

MalaCards integrated aliases for Glycogen Storage Disease X:

Name: Glycogen Storage Disease X 57 20 43 72 13
Myopathy Due to Phosphoglycerate Mutase Deficiency 57 20 43 58 72
Glycogen Storage Disease Type X 36 29 6 70
Pgamm Deficiency 57 20 43 72
Gsd10 57 20 43 72
Muscle Phosphoglycerate Mutase Deficiency 20 58 72
Gsd X 57 43 72
Phosphoglycerate Mutase Deficiency 20 43
Pgam Deficiency 20 43
Gsdx 20 43
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency 58
Glycogenosis Due to Phosphoglycerate Mutase Deficiency 58
Phosphoglycerate Mutase, Muscle, Deficiency of 57
Gsd Due to Phosphoglycerate Mutase Deficiency 58
Deficiency Mutase Phosphoglycerate 43
Storage Disease, Glycogen, Type X 39
Glycogen Storage Disease 10 72
Gsd Type 10 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 261670
KEGG 36 H01951
MeSH 44 D006008
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C0268149
Orphanet 58 ORPHA97234
MedGen 41 C0268149
UMLS 70 C0268149

Summaries for Glycogen Storage Disease X

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97234 Definition Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).

MalaCards based summary : Glycogen Storage Disease X, also known as myopathy due to phosphoglycerate mutase deficiency, is related to glycogen storage disease and glycogen storage disease v, 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. Affiliated tissues include liver, and related phenotypes are myopathy and renal insufficiency

MedlinePlus Genetics : 43 Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.

KEGG : 36 Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The typical presentation is exercise intolerance, cramps, and myoglobinuria.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 261670

Related Diseases for Glycogen Storage Disease X

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



Diseases related to Glycogen Storage Disease X

Symptoms & Phenotypes for Glycogen Storage Disease X

Human phenotypes related to Glycogen Storage Disease X:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 31 HP:0003198
2 renal insufficiency 31 HP:0000083
3 elevated serum creatine kinase 31 HP:0003236
4 exercise-induced myalgia 31 HP:0003738
5 exercise intolerance 31 HP:0003546
6 rhabdomyolysis 31 HP:0003201
7 myoglobinuria 31 HP:0002913
8 exercise-induced muscle cramps 31 HP:0003710

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Glycogen Storage Disease X:


myalgia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.26 DBNL PGAM2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.26 DBNL
3 Decreased homologous recombination repair frequency GR00236-A-3 9.26 PGAM2
4 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 8.62 DBNL PGAM2

Drugs & Therapeutics for Glycogen Storage Disease X

Search Clinical Trials , 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

MalaCards organs/tissues related to Glycogen Storage Disease X:

40
Liver

Publications for Glycogen Storage Disease X

Articles related to Glycogen Storage Disease X:

# Title Authors PMID Year
1
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. 57 6
10545043 1999
2
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. 6 57
8447317 1993
3
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. 57 6
2987758 1985
4
Muscle phosphoglycerate mutase (PGAM) deficiency: a second case. 57 6
6308514 1983
5
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. 6 61
27612597 2016
6
Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. 57
2549058 1989
7
Metabolic myopathies. 57
2878616 1986
8
Muscle phosphoglycerate mutase deficiency. 57
6283419 1982
9
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. 57
6262916 1981

Variations for Glycogen Storage Disease X

ClinVar genetic disease variations for Glycogen Storage Disease X:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DBNL , PGAM2 NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) SNV Pathogenic 419 rs104894030 GRCh37: 7:44104863-44104863
GRCh38: 7:44065264-44065264
2 DBNL , PGAM2 NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) SNV Pathogenic 420 rs104894034 GRCh37: 7:44104861-44104861
GRCh38: 7:44065262-44065262
3 DBNL , PGAM2 NM_000290.4(PGAM2):c.20del (p.Val7fs) Deletion Pathogenic 426405 rs764567774 GRCh37: 7:44105109-44105109
GRCh38: 7:44065510-44065510
4 DBNL , PGAM2 NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) SNV Pathogenic 418 rs10250779 GRCh37: 7:44104896-44104896
GRCh38: 7:44065297-44065297
5 DBNL , PGAM2 NM_000290.4(PGAM2):c.533del (p.Gly178fs) Deletion Likely pathogenic 587530 rs747947171 GRCh37: 7:44104493-44104493
GRCh38: 7:44064894-44064894
6 DBNL , PGAM2 NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) SNV Conflicting interpretations of pathogenicity 421 rs77938727 GRCh37: 7:44104839-44104839
GRCh38: 7:44065240-44065240
7 DBNL , PGAM2 NM_000290.4(PGAM2):c.726C>T (p.Ala242=) SNV Conflicting interpretations of pathogenicity 360270 rs142209394 GRCh37: 7:44102399-44102399
GRCh38: 7:44062800-44062800
8 DBNL , PGAM2 NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) SNV Uncertain significance 360279 rs151308911 GRCh37: 7:44104981-44104981
GRCh38: 7:44065382-44065382
9 DBNL , PGAM2 NM_000290.4(PGAM2):c.459C>T (p.Cys153=) SNV Uncertain significance 360272 rs143809043 GRCh37: 7:44104567-44104567
GRCh38: 7:44064968-44064968
10 DBNL , PGAM2 NM_000290.4(PGAM2):c.288A>G (p.Thr96=) SNV Uncertain significance 387470 rs139561812 GRCh37: 7:44104841-44104841
GRCh38: 7:44065242-44065242
11 DBNL , PGAM2 NM_000290.4(PGAM2):c.62G>A (p.Arg21His) SNV Uncertain significance 943301 GRCh37: 7:44105067-44105067
GRCh38: 7:44065468-44065468
12 DBNL , PGAM2 NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu) SNV Uncertain significance 947508 GRCh37: 7:44104764-44104764
GRCh38: 7:44065165-44065165
13 DBNL , PGAM2 NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) SNV Uncertain significance 665136 rs747760221 GRCh37: 7:44102514-44102514
GRCh38: 7:44062915-44062915
14 DBNL , PGAM2 NM_000290.4(PGAM2):c.143C>T (p.Ala48Val) SNV Uncertain significance 847748 GRCh37: 7:44104986-44104986
GRCh38: 7:44065387-44065387
15 DBNL , PGAM2 NM_000290.4(PGAM2):c.36C>T (p.Gly12=) SNV Uncertain significance 852156 GRCh37: 7:44105093-44105093
GRCh38: 7:44065494-44065494
16 DBNL , PGAM2 NM_000290.4(PGAM2):c.244G>A (p.Val82Met) SNV Uncertain significance 959333 GRCh37: 7:44104885-44104885
GRCh38: 7:44065286-44065286
17 DBNL , PGAM2 NM_000290.4(PGAM2):c.194G>A (p.Arg65His) SNV Uncertain significance 966969 GRCh37: 7:44104935-44104935
GRCh38: 7:44065336-44065336
18 DBNL , PGAM2 NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln) SNV Uncertain significance 1015223 GRCh37: 7:44102406-44102406
GRCh38: 7:44062807-44062807
19 DBNL , PGAM2 NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) SNV Uncertain significance 529224 rs140545494 GRCh37: 7:44105010-44105010
GRCh38: 7:44065411-44065411
20 DBNL , PGAM2 NM_000290.4(PGAM2):c.576C>T (p.Gly192=) SNV Uncertain significance 852765 GRCh37: 7:44104450-44104450
GRCh38: 7:44064851-44064851
21 DBNL , PGAM2 NM_000290.4(PGAM2):c.35_37del (p.Gly12del) Deletion Uncertain significance 855026 GRCh37: 7:44105092-44105094
GRCh38: 7:44065493-44065495
22 DBNL , PGAM2 NM_000290.4(PGAM2):c.*35A>G SNV Uncertain significance 360269 rs374509693 GRCh37: 7:44102328-44102328
GRCh38: 7:44062729-44062729
23 DBNL , PGAM2 NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) SNV Uncertain significance 360278 rs528467394 GRCh37: 7:44104885-44104885
GRCh38: 7:44065286-44065286
24 DBNL , PGAM2 NM_000290.4(PGAM2):c.-32dup Duplication Uncertain significance 360280 rs554686318 GRCh37: 7:44105159-44105160
GRCh38: 7:44065560-44065561
25 DBNL , PGAM2 NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) SNV Uncertain significance 360273 rs376134077 GRCh37: 7:44104600-44104600
GRCh38: 7:44065001-44065001
26 DBNL , PGAM2 NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) SNV Uncertain significance 663111 rs1385458139 GRCh37: 7:44104755-44104755
GRCh38: 7:44065156-44065156
27 DBNL , PGAM2 NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys) SNV Uncertain significance 855880 GRCh37: 7:44104873-44104873
GRCh38: 7:44065274-44065274
28 DBNL , PGAM2 NM_000290.4(PGAM2):c.252T>C (p.Thr84=) SNV Uncertain significance 908403 GRCh37: 7:44104877-44104877
GRCh38: 7:44065278-44065278
29 DBNL , PGAM2 NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg) SNV Uncertain significance 908404 GRCh37: 7:44104897-44104897
GRCh38: 7:44065298-44065298
30 DBNL , PGAM2 NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln) SNV Uncertain significance 909252 GRCh37: 7:44105014-44105014
GRCh38: 7:44065415-44065415
31 DBNL , PGAM2 NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp) SNV Uncertain significance 911378 GRCh37: 7:44104455-44104455
GRCh38: 7:44064856-44064856
32 DBNL , PGAM2 NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) SNV Uncertain significance 911379 GRCh37: 7:44104515-44104515
GRCh38: 7:44064916-44064916
33 DBNL , PGAM2 NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys) SNV Uncertain significance 911380 GRCh37: 7:44104525-44104525
GRCh38: 7:44064926-44064926
34 DBNL , PGAM2 NM_000290.4(PGAM2):c.480T>C (p.Ile160=) SNV Uncertain significance 911381 GRCh37: 7:44104546-44104546
GRCh38: 7:44064947-44064947
35 DBNL , PGAM2 NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) SNV Uncertain significance 911382 GRCh37: 7:44104571-44104571
GRCh38: 7:44064972-44064972
36 PGAM2 , DBNL NM_001014436.3(DBNL):c.*4668T>G SNV Uncertain significance 360281 rs528717273 GRCh37: 7:44105183-44105183
GRCh38: 7:44065584-44065584
37 DBNL , PGAM2 NM_000290.4(PGAM2):c.19G>A (p.Val7Met) SNV Uncertain significance 1004776 GRCh37: 7:44105110-44105110
GRCh38: 7:44065511-44065511
38 DBNL , PGAM2 NM_000290.4(PGAM2):c.415-3C>T SNV Uncertain significance 513506 rs201133395 GRCh37: 7:44104614-44104614
GRCh38: 7:44065015-44065015
39 DBNL , PGAM2 NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro) SNV Uncertain significance 1058779 GRCh37: 7:44104481-44104481
GRCh38: 7:44064882-44064882
40 DBNL , PGAM2 NM_000290.4(PGAM2):c.414+6C>T SNV Uncertain significance 1059765 GRCh37: 7:44104709-44104709
GRCh38: 7:44065110-44065110
41 DBNL , PGAM2 NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp) SNV Uncertain significance 1060608 GRCh37: 7:44102370-44102370
GRCh38: 7:44062771-44062771
42 DBNL , PGAM2 NM_000290.4(PGAM2):c.636G>A (p.Thr212=) SNV Likely benign 786783 rs755991460 GRCh37: 7:44102489-44102489
GRCh38: 7:44062890-44062890
43 DBNL , PGAM2 NM_000290.4(PGAM2):c.596-3T>C SNV Likely benign 360271 rs367994618 GRCh37: 7:44102532-44102532
GRCh38: 7:44062933-44062933
44 DBNL , PGAM2 NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) SNV Likely benign 440991 rs140230479 GRCh37: 7:44102418-44102418
GRCh38: 7:44062819-44062819
45 DBNL , PGAM2 NM_000290.4(PGAM2):c.366G>A (p.Pro122=) SNV Benign/Likely benign 360275 rs143830182 GRCh37: 7:44104763-44104763
GRCh38: 7:44065164-44065164
46 DBNL , PGAM2 NM_000290.4(PGAM2):c.375G>A (p.Pro125=) SNV Benign/Likely benign 360274 rs145985559 GRCh37: 7:44104754-44104754
GRCh38: 7:44065155-44065155
47 DBNL , PGAM2 NM_000290.4(PGAM2):c.324G>A (p.Gly108=) SNV Benign 360277 rs112828964 GRCh37: 7:44104805-44104805
GRCh38: 7:44065206-44065206
48 DBNL , PGAM2 NM_000290.4(PGAM2):c.216C>T (p.Asp72=) SNV Benign 193078 rs111656877 GRCh37: 7:44104913-44104913
GRCh38: 7:44065314-44065314
49 DBNL , PGAM2 NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) SNV Benign 360276 rs61756062 GRCh37: 7:44104788-44104788
GRCh38: 7:44065189-44065189

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

72
# 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

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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