MCID: GLY011
MIFTS: 48

Glycogen Storage Disease Vii

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

Aliases & Classifications for Glycogen Storage Disease Vii

MalaCards integrated aliases for Glycogen Storage Disease Vii:

Name: Glycogen Storage Disease Vii 57 12 75 13 15
Glycogen Storage Disease Type Vii 12 76 25 59 37 44 73
Muscle Phosphofructokinase Deficiency 57 12 53 25 75
Tarui Disease 57 53 25 59 75
Pfkm Deficiency 57 53 25 75
Gsd7 57 53 25 75
Glycogen Storage Disease, Type Vii 12 29 6
Glycogen Storage Disease Type 7 76 53 59
Gsd Vii 57 25 75
Phosphofructokinase Deficiency 25 55
Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency 59
Glycogenosis Due to Muscle Phosphofructokinase Deficiency 59
Gsd Due to Muscle Phosphofructokinase Deficiency 59
Storage Disease, Glycogen, Type Vii 40
Phosphofructokinase, Muscle Type 13
Phosphofructokinase Myopathy 12
Glycogen Storage Disease 7 75
Glycogenosis Type Vii 59
Glycogenosis Type 7 59
Glycogenosis 7 25
Gsd Type Vii 59
Gsd Type 7 59
Gsd-Vii 75

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to muscle phosphofructokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:



External Ids:

OMIM 57 232800
Disease Ontology 12 DOID:11721
ICD10 33 E74.09
MeSH 44 D006014
NCIt 50 C118437
SNOMED-CT 68 234406005 89597008
Orphanet 59 ORPHA371
UMLS via Orphanet 74 C0017926
ICD10 via Orphanet 34 E74.0
MedGen 42 C0017926
KEGG 37 H01945
UMLS 73 C0017926

Summaries for Glycogen Storage Disease Vii

NIH Rare Diseases : 53 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.

MalaCards based summary : Glycogen Storage Disease Vii, also known as glycogen storage disease type vii, is related to glycogen storage disease and phosphoglycerate mutase deficiency, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Vii is PFKM (Phosphofructokinase, Muscle), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and 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 muscle weakness and anemia

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 : 57 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 : 75 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.

Wikipedia : 76 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 via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
increased muscle glycogen content
exercise intolerance
muscle cramps with exertion
muscle fibers may contain abnormal polysaccharide

Hematology:
hemolytic anemia

Skin Nails Hair Skin:
jaundice due to hemolytic anemia

Laboratory Abnormalities:
hyperuricemia
increased reticulocyte count
muscle phosphofructokinase deficiency
myoglobinuria with extreme exertion
increased bilirubin
more
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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
2 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
3 hyperuricemia 59 32 frequent (33%) Frequent (79-30%) HP:0002149
4 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486
5 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
6 increased muscle glycogen content 59 32 hallmark (90%) Very frequent (99-80%) HP:0009051
7 jaundice 32 HP:0000952
8 cholelithiasis 32 HP:0001081
9 hemolytic anemia 32 HP:0001878
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 exercise-induced myoglobinuria 32 HP:0008305
16 reduced erythrocyte 2,3-diphosphoglycerate concentration 32 HP:0030271

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 9.13 PFKP PFKL PFKM
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# 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 Not Applicable

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:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Vii 29 PFKM

Anatomical Context for Glycogen Storage Disease Vii

MalaCards organs/tissues related to Glycogen Storage Disease Vii:

41
Testes, Skeletal Muscle

Publications for Glycogen Storage Disease Vii

Articles related to Glycogen Storage Disease Vii:

# Title Authors Year
1
[Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)]. ( 11596390 )
2001
2
Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. ( 2960695 )
1987

Variations for Glycogen Storage Disease Vii

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

75
# Symbol AA change Variation ID SNP ID
1 PFKM p.Arg39Leu VAR_006063 rs121918193
2 PFKM p.Arg39Pro VAR_006064 rs121918193
3 PFKM p.Gly209Asp VAR_006066 rs767265360
4 PFKM p.Asp543Ala VAR_006067 rs121918194
5 PFKM p.Trp686Cys VAR_006068 rs121918196
6 PFKM p.Gly57Val VAR_072239
7 PFKM p.Ser180Cys VAR_072240
8 PFKM p.Asp309Gly VAR_072241
9 PFKM p.Asp591Ala VAR_072242

ClinVar genetic disease variations for Glycogen Storage Disease Vii:

6
(show top 50) (show all 82)
# 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.329G> C (p.Arg110Pro) single nucleotide variant Pathogenic rs121918193 GRCh38 Chromosome 12, 48130393: 48130393
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.1841A> C (p.Asp614Ala) single nucleotide variant Pathogenic rs121918194 GRCh38 Chromosome 12, 48142041: 48142041
7 PFKM PFKM, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
8 PFKM NM_000289.5(PFKM): c.116G> T (p.Arg39Leu) single nucleotide variant Pathogenic rs121918193 GRCh37 Chromosome 12, 48524176: 48524176
9 PFKM NM_000289.5(PFKM): c.116G> T (p.Arg39Leu) single nucleotide variant Pathogenic rs121918193 GRCh38 Chromosome 12, 48130393: 48130393
10 PFKM NM_001166686.1(PFKM): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs121918195 GRCh37 Chromosome 12, 48526696: 48526696
11 PFKM NM_001166686.1(PFKM): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs121918195 GRCh38 Chromosome 12, 48132913: 48132913
12 PFKM NM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys) single nucleotide variant Pathogenic rs121918196 GRCh37 Chromosome 12, 48538879: 48538879
13 PFKM NM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys) single nucleotide variant Pathogenic rs121918196 GRCh38 Chromosome 12, 48145096: 48145096
14 PFKM PFKM, 1-BP DEL, 2003C deletion Pathogenic
15 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic rs202143236 GRCh37 Chromosome 12, 48525177: 48525177
16 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic rs202143236 GRCh38 Chromosome 12, 48131394: 48131394
17 PFKM NM_000289.5(PFKM): c.246G> A (p.Thr82=) single nucleotide variant Benign/Likely benign rs2228501 GRCh38 Chromosome 12, 48132876: 48132876
18 PFKM NM_000289.5(PFKM): c.246G> A (p.Thr82=) single nucleotide variant Benign/Likely benign rs2228501 GRCh37 Chromosome 12, 48526659: 48526659
19 PFKM NM_000289.5(PFKM): c.299G> A (p.Arg100Gln) single nucleotide variant Benign rs2228500 GRCh37 Chromosome 12, 48526712: 48526712
20 PFKM NM_000289.5(PFKM): c.299G> A (p.Arg100Gln) single nucleotide variant Benign rs2228500 GRCh38 Chromosome 12, 48132929: 48132929
21 PFKM NM_000289.5(PFKM): c.306C> T (p.Ala102=) single nucleotide variant Benign/Likely benign rs11552507 GRCh38 Chromosome 12, 48132936: 48132936
22 PFKM NM_000289.5(PFKM): c.306C> T (p.Ala102=) single nucleotide variant Benign/Likely benign rs11552507 GRCh37 Chromosome 12, 48526719: 48526719
23 PFKM NM_000289.5(PFKM): c.516C> T (p.Thr172=) single nucleotide variant Benign rs1049392 GRCh38 Chromosome 12, 48133403: 48133403
24 PFKM NM_000289.5(PFKM): c.516C> T (p.Thr172=) single nucleotide variant Benign rs1049392 GRCh37 Chromosome 12, 48527186: 48527186
25 PFKM NM_000289.5(PFKM): c.1342-14G> T single nucleotide variant Benign/Likely benign rs56117548 GRCh37 Chromosome 12, 48535080: 48535080
26 PFKM NM_000289.5(PFKM): c.1342-14G> T single nucleotide variant Benign/Likely benign rs56117548 GRCh38 Chromosome 12, 48141297: 48141297
27 PFKM NM_000289.5(PFKM): c.2087G> A (p.Arg696His) single nucleotide variant Benign/Likely benign rs41291971 GRCh37 Chromosome 12, 48538908: 48538908
28 PFKM NM_000289.5(PFKM): c.2087G> A (p.Arg696His) single nucleotide variant Benign/Likely benign rs41291971 GRCh38 Chromosome 12, 48145125: 48145125
29 PFKM NM_000289.5(PFKM): c.2093-14A> G single nucleotide variant Benign rs11168427 GRCh37 Chromosome 12, 48538979: 48538979
30 PFKM NM_000289.5(PFKM): c.2093-14A> G single nucleotide variant Benign rs11168427 GRCh38 Chromosome 12, 48145196: 48145196
31 PFKM NM_000289.5(PFKM): c.2334T> G (p.Ala778=) single nucleotide variant Benign rs8716 GRCh37 Chromosome 12, 48539482: 48539482
32 PFKM NM_000289.5(PFKM): c.2334T> G (p.Ala778=) single nucleotide variant Benign rs8716 GRCh38 Chromosome 12, 48145699: 48145699
33 PFKM NM_000289.5(PFKM): c.-112T> G single nucleotide variant Benign rs12306290 GRCh38 Chromosome 12, 48119303: 48119303
34 PFKM NM_000289.5(PFKM): c.-112T> G single nucleotide variant Benign rs12306290 GRCh37 Chromosome 12, 48513086: 48513086
35 PFKM NM_000289.5(PFKM): c.360C> T (p.Gly120=) single nucleotide variant Uncertain significance rs886049453 GRCh38 Chromosome 12, 48132990: 48132990
36 PFKM NM_000289.5(PFKM): c.360C> T (p.Gly120=) single nucleotide variant Uncertain significance rs886049453 GRCh37 Chromosome 12, 48526773: 48526773
37 PFKM NM_000289.5(PFKM): c.1338G> A (p.Gly446=) single nucleotide variant Uncertain significance rs150378513 GRCh38 Chromosome 12, 48140868: 48140868
38 PFKM NM_000289.5(PFKM): c.1338G> A (p.Gly446=) single nucleotide variant Uncertain significance rs150378513 GRCh37 Chromosome 12, 48534651: 48534651
39 PFKM NM_000289.5(PFKM): c.1946A> G (p.Lys649Arg) single nucleotide variant Uncertain significance rs199528011 GRCh38 Chromosome 12, 48144111: 48144111
40 PFKM NM_000289.5(PFKM): c.1946A> G (p.Lys649Arg) single nucleotide variant Uncertain significance rs199528011 GRCh37 Chromosome 12, 48537894: 48537894
41 PFKM NM_000289.5(PFKM): c.*134G> A single nucleotide variant Uncertain significance rs886049456 GRCh37 Chromosome 12, 48539625: 48539625
42 PFKM NM_000289.5(PFKM): c.*134G> A single nucleotide variant Uncertain significance rs886049456 GRCh38 Chromosome 12, 48145842: 48145842
43 PFKM NM_000289.5(PFKM): c.*503G> T single nucleotide variant Uncertain significance rs747797192 GRCh37 Chromosome 12, 48539994: 48539994
44 PFKM NM_000289.5(PFKM): c.*503G> T single nucleotide variant Uncertain significance rs747797192 GRCh38 Chromosome 12, 48146211: 48146211
45 PFKM NM_000289.5(PFKM): c.-176C> T single nucleotide variant Uncertain significance rs886049451 GRCh38 Chromosome 12, 48119239: 48119239
46 PFKM NM_000289.5(PFKM): c.-176C> T single nucleotide variant Uncertain significance rs886049451 GRCh37 Chromosome 12, 48513022: 48513022
47 PFKM NM_000289.5(PFKM): c.-64C> T single nucleotide variant Uncertain significance rs886049452 GRCh38 Chromosome 12, 48119351: 48119351
48 PFKM NM_000289.5(PFKM): c.-64C> T single nucleotide variant Uncertain significance rs886049452 GRCh37 Chromosome 12, 48513134: 48513134
49 PFKM NM_000289.5(PFKM): c.638+15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs376150217 GRCh38 Chromosome 12, 48134291: 48134291
50 PFKM NM_000289.5(PFKM): c.638+15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs376150217 GRCh37 Chromosome 12, 48528074: 48528074

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 KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

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

(show all 13)
# 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
11.98 PFKL PFKM PFKP
6
Show member pathways
11.92 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:

# 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:

# 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 complex 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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