MCID: GLY011
MIFTS: 47

Glycogen Storage Disease Vii

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

MalaCards integrated aliases for Glycogen Storage Disease Vii:

Name: Glycogen Storage Disease Vii 54 12 71 13 14
Glycogen Storage Disease Type Vii 12 24 25 56 42 69
Tarui Disease 50 24 25 56 71
Muscle Phosphofructokinase Deficiency 12 50 25 71
Phosphofructokinase Deficiency 24 25 52
Pfkm Deficiency 50 25 71
Gsd Vii 24 25 71
Gsd7 50 25 71
Glycogen Storage Disease, Type Vii 12 29
Glycogen Storage Disease Type 7 50 56
Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency 56
Glycogenosis Due to Muscle Phosphofructokinase Deficiency 56
Gsd Due to Muscle Phosphofructokinase Deficiency 56
Phosphofructokinase, Muscle Type 13
Phosphofructokinase Myopathy 12
Glycogen Storage Disease 7 71
Glycogenosis Type Vii 56
Glycogenosis Type 7 56
Pfk Deficiency 24
Glycogenosis 7 25
Gsd Type Vii 56
Gsd Type 7 56
Gsd-Vii 71
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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
exercise intolerance often evident in childhood
late-adult onset has been reported
a severe infantile variant has been rarely reported


HPO:

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


Classifications:



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 phosphoglycerate mutase deficiency and mitochondrial dna depletion syndrome 12, and has symptoms including anemia, muscle weakness 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 drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include testes and skeletal muscle, and related phenotypes are Decreased cell proliferation and Decreased viability after gemcitabine stimulation

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 intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder. (232800)

UniProtKB/Swiss-Prot : 71 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.

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 via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
muscle weakness
exercise intolerance
muscle cramps with exertion
muscle fibers may contain abnormal polysaccharide
increased muscle glycogen content

Laboratory- Abnormalities:
hyperuricemia
increased reticulocyte count
muscle phosphofructokinase deficiency
myoglobinuria with extreme exertion
increased bilirubin
more
Skin Nails & Hair- Skin:
jaundice due to hemolytic anemia

Hematology:
hemolytic anemia

Abdomen- Liver:
gallstones due to hemolytic anemia
jaundice due to hemolytic anemia

Skeletal- Feet:
gout due to increased uric acid


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 anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001903
2 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
3 hyperuricemia 56 32 frequent (33%) Frequent (79-30%) HP:0002149
4 myotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002486
5 increased muscle glycogen content 56 32 hallmark (90%) Very frequent (99-80%) HP:0009051
6 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
7 reticulocytosis 32 HP:0001923
8 jaundice 32 HP:0000952
9 exercise intolerance 32 HP:0003546
10 increased total bilirubin 32 HP:0003573
11 hemolytic anemia 32 HP:0001878
12 gout 32 HP:0001997
13 cholelithiasis 32 HP:0001081
14 reduced erythrocyte 2,3-diphosphoglycerate concentration 32 HP:0030271
15 exercise-induced muscle cramps 32 HP:0003710
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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic and Family Studies of Inherited Muscle Diseases Completed NCT00001331
2 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

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
Testes, 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:

71 (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, IVS15DS, G-T, +1 single nucleotide variant Pathogenic
2 PFKM PFKM, IVS6AS, A-C, -2 single nucleotide variant Pathogenic
3 PFKM NM_001166686.1(PFKM): c.329G> C (p.Arg110Pro) single nucleotide variant Pathogenic rs121918193 GRCh37 Chromosome 12, 48524176: 48524176
4 PFKM NM_001166686.1(PFKM): c.1841A> C (p.Asp614Ala) single nucleotide variant Pathogenic rs121918194 GRCh37 Chromosome 12, 48535824: 48535824
5 PFKM PFKM, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
6 PFKM NM_000289.5(PFKM): c.116G> T (p.Arg39Leu) 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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