MCID: GLY057
MIFTS: 33

Glycogen Storage Disease X

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

Aliases & Classifications for Glycogen Storage Disease X

MalaCards integrated aliases for Glycogen Storage Disease X:

Name: Glycogen Storage Disease X 54 71 13
Glycogen Storage Disease Type X 24 29 69
Myopathy Due to Phosphoglycerate Mutase Deficiency 56 71
Muscle Phosphoglycerate Mutase Deficiency 56 71
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency 56
Glycogenosis Due to Phosphoglycerate Mutase Deficiency 56
Gsd Due to Phosphoglycerate Mutase Deficiency 56
Phosphoglycerate Mutase Deficiency 24
Glycogen Storage Disease 10 71
Pgamm Deficiency 71
Pgam Deficiency 24
Gsd Type 10 56
Gsd10 71
Gsd X 71

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
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 54 261670
Orphanet 56 ORPHA97234
UMLS via Orphanet 70 C0268149
ICD10 via Orphanet 34 E74.0
MedGen 40 C0268149
MeSH 42 D006008

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 glycogen storage disease type x, is related to phosphoglycerate mutase deficiency and glycogen storage disease, and has symptoms including exercise intolerance, rhabdomyolysis and renal insufficiency. An important gene associated with Glycogen Storage Disease X is PGAM2 (Phosphoglycerate Mutase 2). The drugs Adrenergic Agents and Adrenergic Agonists have 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:

54

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

Genitourinary- Kidneys:
renal failure may occur
myoglobinuria
pigmenturia

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

Clinical features from OMIM:

261670

Human phenotypes related to Glycogen Storage Disease X:

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

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic Agents Phase 4
2 Adrenergic Agonists Phase 4
3 Adrenergic beta-2 Receptor Agonists Phase 4
4 Adrenergic beta-Agonists Phase 4
5 Albuterol Phase 4
6 Anti-Asthmatic Agents Phase 4
7 Autonomic Agents Phase 4,Phase 1
8 Bronchodilator Agents Phase 4
9 Neurotransmitter Agents Phase 4,Phase 1
10 Peripheral Nervous System Agents Phase 4,Phase 1
11 Respiratory System Agents Phase 4
12 Tocolytic Agents Phase 4
13
Acetaminophen Approved Phase 1 103-90-2 1983
14
Benzocaine Approved Phase 1 1994-09-7, 94-09-7 2337
15
Diphenhydramine Approved Phase 1 58-73-1, 147-24-0 3100
16
Everolimus Approved Phase 1 159351-69-6 6442177
17
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
18
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
19
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
20
Promethazine Approved Phase 1 60-87-7 4927
21
rituximab Approved Phase 1 174722-31-7 10201696
22
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
23 tannic acid Approved, Nutraceutical Phase 1
24 Analgesics Phase 1
25 Analgesics, Non-Narcotic Phase 1
26 Anesthetics Phase 1
27 Anesthetics, Local Phase 1
28 Anti-Allergic Agents Phase 1
29 Anti-Arrhythmia Agents Phase 1
30 Anti-Bacterial Agents Phase 1
31 Antibiotics, Antitubercular Phase 1
32 Antibodies Phase 1
33 Antiemetics Phase 1
34 Antifungal Agents Phase 1
35 Anti-Infective Agents Phase 1
36 Antipruritics Phase 1
37 Antipyretics Phase 1
38 Antirheumatic Agents Phase 1
39 Central Nervous System Depressants Phase 1
40 Dermatologic Agents Phase 1
41 Diuretics, Potassium Sparing Phase 1
42 gamma-Globulins Phase 1
43 Gastrointestinal Agents Phase 1
44 Histamine Antagonists Phase 1
45 Histamine H1 Antagonists Phase 1
46
Histamine Phosphate Phase 1 51-74-1 65513
47 Hypnotics and Sedatives Phase 1
48 Immunoglobulins Phase 1
49 Immunoglobulins, Intravenous Phase 1
50 Immunosuppressive Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
2 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2 rAAV1-CMV-GAA (study agent) Administration
3 Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Recruiting NCT02240407 Phase 1 Rapamycin;Rituxan;Diphenhydramine;Acetaminophen;Lidocaine
4 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
5 Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana Completed NCT02903654
6 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
7 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
8 Diet and Exercise in Pompe Disease Not yet recruiting NCT02363153

Search NIH Clinical Center for Glycogen Storage Disease X

Genetic Tests for Glycogen Storage Disease X

Genetic tests related to Glycogen Storage Disease X:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type X 29 24 PGAM2

Anatomical Context for Glycogen Storage Disease X

Publications for Glycogen Storage Disease X

Articles related to Glycogen Storage Disease X:

id 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
id 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
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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