GSD7
MCID: GLY011
MIFTS: 48

Glycogen Storage Disease Vii (GSD7) malady

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

Aliases & Classifications for Glycogen Storage Disease Vii

Aliases & Descriptions for Glycogen Storage Disease Vii:

Name: Glycogen Storage Disease Vii 54 12 66 13 14
Glycogen Storage Disease Type Vii 12 24 25 56 42 69
Tarui Disease 50 24 25 56 66
Muscle Phosphofructokinase Deficiency 12 50 25 66
Phosphofructokinase Deficiency 24 25 52
Pfkm Deficiency 50 25 66
Gsd Vii 24 25 66
Gsd7 50 25 66
Glycogen Storage Disease Type 7 50 56
Glycogen Storage Disease 7 66 29
Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency 56
Glycogenosis Due to Muscle Phosphofructokinase Deficiency 56
Gsd Due to Muscle Phosphofructokinase Deficiency 56
Glycogen Storage Disease, Type Vii 12
Phosphofructokinase, Muscle Type 13
Phosphofructokinase Myopathy 12
Glycogenosis Type Vii 56
Glycogenosis Type 7 56
Pfk Deficiency 24
Glycogenosis 7 25
Gsd Type Vii 56
Gsd Type 7 56
Gsd-Vii 66
Gsdvii 24

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to muscle phosphofructokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
glycogen storage disease vii:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 232800
Disease Ontology 12 DOID:11721
ICD10 33 E74.09
MeSH 42 D006014
NCIt 47 C118437
SNOMED-CT 64 234406005 89597008
Orphanet 56 ORPHA371
UMLS via Orphanet 70 C0017926
ICD10 via Orphanet 34 E74.0
MedGen 40 C0017926
UMLS 69 C0017926

Summaries for Glycogen Storage Disease Vii

NIH Rare Diseases : 50 glycogen storage disease type 7 (gsd7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. the severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. symptoms typically resolve with rest. gsd7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year). this condition is caused by changes (mutations) in the pfkm gene and is inherited in an autosomal recessive manner. there is no specific treatment for gsd7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals. last updated: 5/18/2015

MalaCards based summary : Glycogen Storage Disease Vii, also known as glycogen storage disease type vii, is related to glycogen storage disease and pili torti developmental delay neurological abnormalities, and has symptoms including muscle weakness, anemia and hyperuricemia. An important gene associated with Glycogen Storage Disease Vii is PFKM (Phosphofructokinase, Muscle), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased cell proliferation and Decreased viability after gemcitabine stimulation

UniProtKB/Swiss-Prot : 66 Glycogen storage disease 7: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.

Genetics Home Reference : 25 Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

OMIM : 54 Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise... (232800) more...

Wikipedia : 71 Phosphofructokinase deficiency, also known as glycogen storage disease type VII or Tarui\'s disease, is... more...

Related Diseases for Glycogen Storage Disease Vii

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



Diseases related to Glycogen Storage Disease Vii

Symptoms & Phenotypes for Glycogen Storage Disease Vii

Symptoms by clinical synopsis from OMIM:

232800

Clinical features from OMIM:

232800

Human phenotypes related to Glycogen Storage Disease Vii:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Frequent (79-30%) HP:0001324
2 anemia 56 32 Very frequent (99-80%) HP:0001903
3 hyperuricemia 56 32 Frequent (79-30%) HP:0002149
4 myotonia 56 32 Very frequent (99-80%) HP:0002486
5 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
6 increased muscle glycogen content 56 32 Very frequent (99-80%) HP:0009051
7 hemolytic anemia 32 HP:0001878
8 cholelithiasis 32 HP:0001081
9 jaundice 32 HP:0000952
10 reticulocytosis 32 HP:0001923
11 gout 32 HP:0001997
12 exercise intolerance 32 HP:0003546
13 increased total bilirubin 32 HP:0003573
14 exercise-induced muscle cramps 32 HP:0003710
15 reduced erythrocyte 2,3-diphosphoglycerate concentration 32 HP:0030271
16 exercise-induced myoglobinuria 32 HP:0008305

UMLS symptoms related to Glycogen Storage Disease Vii:


muscle weakness

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 9.13 PFKL PFKM PFKP
2 Decreased viability after gemcitabine stimulation GR00107-A-2 8.62 PFKM PFKP

Drugs & Therapeutics for Glycogen Storage Disease Vii

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

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 1 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 1 19130-96-2 1374
3 Antibodies Phase 1
4 Anti-HIV Agents Phase 1
5 Anti-Infective Agents Phase 1
6 Anti-Retroviral Agents Phase 1
7 Antiviral Agents Phase 1
8 Cardiac Glycosides Phase 1
9 Glycoside Hydrolase Inhibitors Phase 1
10 Hypoglycemic Agents Phase 1
11 Immunoglobulins Phase 1
12
Acetylcholine Approved Early Phase 1 51-84-3 187
13
Somatostatin Approved 38916-34-6, 51110-01-1 53481605
14 Hormones
15 insulin
16 Insulin, Globin Zinc
17 Pharmaceutical Solutions
18 Anticonvulsants Early Phase 1
19 Bromides Early Phase 1
20 Cholinergic Agents Early Phase 1
21 Cholinesterase Inhibitors Early Phase 1
22 Neurotransmitter Agents Early Phase 1
23 Pyridostigmine Bromide Early Phase 1 101-26-8
24 Calcium, Dietary
25 Liver Extracts

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
1 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT02432768 Phase 2
2 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease Recruiting NCT02898753 Phase 1, Phase 2
3 Triheptanoin in Mc Ardle Not yet recruiting NCT02919631 Phase 2
4 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2
5 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1
6 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1
7 Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease Completed NCT03147664
8 Impact of Physical Activity on Blood Glucose Stability and Energy Stores in Individuals With Type 1 Diabetes Completed NCT02068638
9 Genetic and Family Studies of Inherited Muscle Diseases Completed NCT00001331
10 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
11 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
12 Biomarker for Pompe Disease Recruiting NCT01457443
13 A Pilot Study of Pyridostigmine in Pompe Disease Recruiting NCT02357225 Early Phase 1
14 Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness Recruiting NCT02746718
15 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489
16 Diet and Exercise in Pompe Disease Not yet recruiting NCT02363153

Search NIH Clinical Center for Glycogen Storage Disease Vii

Cochrane evidence based reviews: glycogen storage disease type vii

Genetic Tests for Glycogen Storage Disease Vii

Genetic tests related to Glycogen Storage Disease Vii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Vii 29
2 Glycogen Storage Disease Type Vii 24 PFKM

Anatomical Context for Glycogen Storage Disease Vii

MalaCards organs/tissues related to Glycogen Storage Disease Vii:

39
Skeletal Muscle

Publications for Glycogen Storage Disease Vii

Variations for Glycogen Storage Disease Vii

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

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 PFKM p.Arg39Leu VAR_006063 rs121918193
2 PFKM p.Arg39Pro VAR_006064 rs121918193
3 PFKM p.Arg100Gln VAR_006065 rs2228500
4 PFKM p.Gly209Asp VAR_006066 rs767265360
5 PFKM p.Asp543Ala VAR_006067 rs121918194
6 PFKM p.Trp686Cys VAR_006068 rs121918196
7 PFKM p.Arg696His VAR_006069 rs41291971
8 PFKM p.Gly57Val VAR_072239
9 PFKM p.Ser180Cys VAR_072240
10 PFKM p.Asp309Gly VAR_072241
11 PFKM p.Asp591Ala VAR_072242

ClinVar genetic disease variations for Glycogen Storage Disease Vii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PFKM PFKM, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
2 PFKM PFKM, IVS15DS, G-T, +1 single nucleotide variant Pathogenic
3 PFKM PFKM, IVS6AS, A-C, -2 single nucleotide variant Pathogenic
4 PFKM NM_001166686.1(PFKM): c.329G> C (p.Arg110Pro) single nucleotide variant Pathogenic rs121918193 GRCh37 Chromosome 12, 48524176: 48524176
5 PFKM NM_001166686.1(PFKM): c.1841A> C (p.Asp614Ala) single nucleotide variant Pathogenic rs121918194 GRCh37 Chromosome 12, 48535824: 48535824
6 PFKM NM_001166686.1(PFKM): c.329G> T (p.Arg110Leu) single nucleotide variant Pathogenic rs121918193 GRCh37 Chromosome 12, 48524176: 48524176
7 PFKM NM_001166686.1(PFKM): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs121918195 GRCh37 Chromosome 12, 48526696: 48526696
8 PFKM NM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys) single nucleotide variant Pathogenic rs121918196 GRCh37 Chromosome 12, 48538879: 48538879
9 PFKM PFKM, 1-BP DEL, 2003C deletion Pathogenic
10 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic rs202143236 GRCh37 Chromosome 12, 48525177: 48525177

Expression for Glycogen Storage Disease Vii

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

Pathways for Glycogen Storage Disease Vii

Pathways related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 AMPD3 GBE1 MGAM PFKL PFKM PFKP
2
Show member pathways
12.18 GBE1 MGAM PFKL PFKM PFKP PYGM
3
Show member pathways
12.13 GBE1 PFKL PFKM PFKP PYGM
4
Show member pathways
12.1 PFKL PFKM PFKP
5
Show member pathways
11.97 PFKL PFKM PFKP
6
Show member pathways
11.91 PFKL PFKM PFKP
7
Show member pathways
11.84 PFKL PFKM PFKP
8
Show member pathways
11.59 PFKL PFKM PFKP
9 11.36 PFKL PFKM PFKP
10
Show member pathways
11.29 PFKL PFKM PFKP
11
Show member pathways
11.18 GBE1 MGAM PFKL PFKM PFKP PYGM
12
Show member pathways
11.1 PFKL PFKM PFKP
13 11.05 GBE1 PYGM

GO Terms for Glycogen Storage Disease Vii

Cellular components related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 AMPD3 GBE1 PFKL PFKM PFKP PYGM
2 extracellular exosome GO:0070062 9.43 GBE1 MGAM PFKL PFKM PFKP PYGM
3 6-phosphofructokinase complex GO:0005945 8.62 PFKL PFKM

Biological processes related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.72 MGAM PFKL PFKM PFKP PYGM
2 carbohydrate metabolic process GO:0005975 9.67 GBE1 MGAM PFKL PYGM
3 protein oligomerization GO:0051259 9.46 PFKL PFKM
4 glycogen metabolic process GO:0005977 9.43 GBE1 PYGM
5 glycolytic process GO:0006096 9.43 PFKL PFKM PFKP
6 glycogen catabolic process GO:0005980 9.4 PFKM PYGM
7 canonical glycolysis GO:0061621 9.33 PFKL PFKM PFKP
8 fructose 6-phosphate metabolic process GO:0006002 9.13 PFKL PFKM PFKP
9 glycolytic process through fructose-6-phosphate GO:0061615 8.8 PFKL PFKM PFKP

Molecular functions related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.77 GBE1 PFKL PFKM PFKP PYGM
2 kinase binding GO:0019900 9.43 MYOM2 PFKL PFKM
3 catalytic activity GO:0003824 9.35 MGAM PFKL PFKM PFKP PYGM
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.32 GBE1 MGAM
5 fructose binding GO:0070061 9.16 PFKL PFKM
6 6-phosphofructokinase activity GO:0003872 8.8 PFKL PFKM PFKP

Sources for Glycogen Storage Disease Vii

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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