MCID: GLY011
MIFTS: 45

Glycogen Storage Disease Vii 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

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Aliases & Descriptions for Glycogen Storage Disease Vii:

Name: Glycogen Storage Disease Vii 50 11 13 68 12
Glycogen Storage Disease Type Vii 11 23 24 52 37 66
Tarui Disease 46 23 24 52 68
Muscle Phosphofructokinase Deficiency 11 46 24 68
Phosphofructokinase Deficiency 23 24 48
Pfkm Deficiency 46 24 68
Gsd Vii 23 24 68
Gsd7 46 24 68
Glycogen Storage Disease Type 7 46 52
Glycogen Storage Disease 7 68 25
Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency 52
Glycogenosis Due to Muscle Phosphofructokinase Deficiency 52
 
Gsd Due to Muscle Phosphofructokinase Deficiency 52
Glycogen Storage Disease, Type Vii 11
Phosphofructokinase, Muscle Type 12
Phosphofructokinase Myopathy 11
Glycogenosis Type Vii 52
Glycogenosis Type 7 52
Glycogenosis 7 24
Pfk Deficiency 23
Gsd Type Vii 52
Gsd Type 7 52
Gsd-Vii 68
Gsdvii 23

Characteristics:

Orphanet epidemiological data:

52
glycogen storage disease type vii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
glycogen storage disease vii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 232800
Disease Ontology11 DOID:11721
ICD1028 E74.09
MeSH37 D006014
NCIt43 C118437
SNOMED-CT60 234406005, 89597008
Orphanet52 ORPHA371
ICD10 via Orphanet29 E74.0
UMLS via Orphanet67 C0017926
MedGen35 C0017926

Summaries for Glycogen Storage Disease Vii

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NIH Rare Diseases:46 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 mcardle disease, and has symptoms including myotonia, skeletal muscle atrophy and jaundice. An important gene associated with Glycogen Storage Disease Vii is PFKM (Phosphofructokinase, Muscle), and among its related pathways are Insulin Signaling and AMPK Enzyme Complex Pathway. Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot:68 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:24 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:50 Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise... (232800) more...

Wikipedia:69 Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui\'s disease, is... more...

Related Diseases for Glycogen Storage Disease Vii

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Graphical network of diseases related to Glycogen Storage Disease Vii:



Diseases related to glycogen storage disease vii

Symptoms for Glycogen Storage Disease Vii

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Symptoms by clinical synopsis from OMIM:

232800

Clinical features from OMIM:

232800

Symptoms:

 52
  • muscle weakness
  • anemia
  • hyperuricemia
  • myotonia
  • skeletal muscle atrophy
  • increased muscle glycogen content

HPO human phenotypes related to Glycogen Storage Disease Vii:

(show all 14)
id Description Frequency HPO Source Accession
1 myotonia hallmark (90%) HP:0002486
2 skeletal muscle atrophy typical (50%) HP:0003202
3 jaundice HP:0000952
4 cholelithiasis HP:0001081
5 muscle weakness HP:0001324
6 hemolytic anemia HP:0001878
7 reticulocytosis HP:0001923
8 gout HP:0001997
9 exercise intolerance HP:0003546
10 increased total bilirubin HP:0003573
11 exercise-induced muscle cramps HP:0003710
12 exercise-induced myoglobinuria HP:0008305
13 increased muscle glycogen content HP:0009051
14 reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271

UMLS symptoms related to Glycogen Storage Disease Vii:


muscle weakness

Drugs & Therapeutics for Glycogen Storage Disease Vii

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatPhase 12172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
2
1-DeoxynojirimycinPhase 12319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
3insulin4401
4
Somatostatin21238916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
5Pyridostigmine BromidePhase 024101-26-8
6
AcetylcholinePhase 075251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)RecruitingNCT02432768Phase 2
2Triheptanoin in Mc ArdleNot yet recruitingNCT02919631Phase 2
3A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionNot yet recruitingNCT02185651Phase 1
4Impact of Physical Activity on Blood Glucose Stability and Energy Stores in Individuals With Type 1 DiabetesCompletedNCT02068638
5Genetic and Family Studies of Inherited Muscle DiseasesCompletedNCT00001331
6Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
7Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
8Biomarker for Pompe DiseaseRecruitingNCT01457443
9Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle WeaknessRecruitingNCT02746718
10A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Phase 0
11Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489
12Diet and Exercise in Pompe DiseaseNot yet recruitingNCT02363153Phase 0

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

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Genetic tests related to Glycogen Storage Disease Vii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Vii25
2 Glycogen Storage Disease Type Vii23 PFKM

Anatomical Context for Glycogen Storage Disease Vii

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MalaCards organs/tissues related to Glycogen Storage Disease Vii:

34
Skeletal muscle

Animal Models for Glycogen Storage Disease Vii or affiliated genes

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Publications for Glycogen Storage Disease Vii

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Variations for Glycogen Storage Disease Vii

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

68 (show all 11)
id Symbol AA change Variation ID SNP ID
1PFKMp.Arg39LeuVAR_006063rs121918193
2PFKMp.Arg39ProVAR_006064rs121918193
3PFKMp.Arg100GlnVAR_006065rs2228500
4PFKMp.Gly209AspVAR_006066rs767265360
5PFKMp.Asp543AlaVAR_006067rs121918194
6PFKMp.Trp686CysVAR_006068rs121918196
7PFKMp.Arg696HisVAR_006069rs41291971
8PFKMp.Gly57ValVAR_072239
9PFKMp.Ser180CysVAR_072240
10PFKMp.Asp309GlyVAR_072241
11PFKMp.Asp591AlaVAR_072242

Clinvar genetic disease variations for Glycogen Storage Disease Vii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PFKMPFKM, IVS15DS, G-T, +1single nucleotide variantPathogenic
2PFKMPFKM, IVS6AS, A-C, -2single nucleotide variantPathogenic
3PFKMNM_001166686.1(PFKM): c.329G> C (p.Arg110Pro)single nucleotide variantPathogenicrs121918193GRCh37Chr 12, 48524176: 48524176
4PFKMNM_001166686.1(PFKM): c.1841A> C (p.Asp614Ala)single nucleotide variantPathogenicrs121918194GRCh37Chr 12, 48535824: 48535824
5PFKMPFKM, IVS5DS, G-A, +1single nucleotide variantPathogenic
6PFKMNM_001166686.1(PFKM): c.329G> T (p.Arg110Leu)single nucleotide variantPathogenicrs121918193GRCh37Chr 12, 48524176: 48524176
7PFKMNM_001166686.1(PFKM): c.496C> T (p.Arg166Ter)single nucleotide variantPathogenicrs121918195GRCh37Chr 12, 48526696: 48526696
8PFKMNM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys)single nucleotide variantPathogenicrs121918196GRCh37Chr 12, 48538879: 48538879
9PFKMPFKM, 1-BP DEL, 2003CdeletionPathogenic
10PFKMNM_000289.5(PFKM): c.237+1G> Asingle nucleotide variantPathogenicrs202143236GRCh37Chr 12, 48525177: 48525177

Expression for genes affiliated with Glycogen Storage Disease Vii

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

Pathways for genes affiliated with Glycogen Storage Disease Vii

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.4PFKL, PFKM
2
Show member pathways
8.9PFKL, PFKM, PFKP
3
Show member pathways
8.9PFKL, PFKM, PFKP
4
Show member pathways
8.9PFKL, PFKM, PFKP
5
Show member pathways
8.9PFKL, PFKM, PFKP
6
Show member pathways
8.9PFKL, PFKM, PFKP
7
Show member pathways
8.9PFKL, PFKM, PFKP
8
Show member pathways
8.9PFKL, PFKM, PFKP
98.9PFKL, PFKM, PFKP
10
Show member pathways
8.9PFKL, PFKM, PFKP
11
Show member pathways
8.1MGAM, PFKL, PFKM, PFKP
12
Show member pathways
8.1MGAM, PFKL, PFKM, PFKP

GO Terms for genes affiliated with Glycogen Storage Disease Vii

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

idNameGO IDScoreTop Affiliating Genes
16-phosphofructokinase complexGO:00059459.4PFKL, PFKM

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

idNameGO IDScoreTop Affiliating Genes
1glycolytic process through fructose-6-phosphateGO:00616159.9PFKL, PFKM
2glycolytic processGO:00060969.4PFKL, PFKM
3protein oligomerizationGO:00512599.4PFKL, PFKM
4fructose 6-phosphate metabolic processGO:00060029.3PFKL, PFKM, PFKP
5canonical glycolysisGO:00616219.3PFKL, PFKM, PFKP

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

idNameGO IDScoreTop Affiliating Genes
1fructose bindingGO:00700619.9PFKL, PFKM
2kinase bindingGO:00199009.4PFKL, PFKM
36-phosphofructokinase activityGO:00038729.3PFKL, PFKM, PFKP

Sources for Glycogen Storage Disease Vii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet