MCID: GLY011
MIFTS: 38

Glycogen Storage Disease Vii malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular 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 49 10 11 12 67
Glycogen Storage Disease Type Vii 10 22 23 36 65
Muscle Phosphofructokinase Deficiency 10 45 23 67
Tarui Disease 45 22 23 67
Phosphofructokinase Deficiency 22 23 47
Pfkm Deficiency 45 23 67
Gsd Vii 22 23 67
Gsd7 45 23 67
Glycogen Storage Disease 7 67 24
 
Glycogen Storage Disease, Type Vii 10
Phosphofructokinase, Muscle Type 11
Glycogen Storage Disease Type 7 45
Phosphofructokinase Myopathy 10
Pfk Deficiency 22
Glycogenosis 7 23
Gsd-Vii 67
Gsdvii 22

Characteristics:

HPO:

61
glycogen storage disease vii:
Onset and clinical course: variable expressivity
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 232800
Disease Ontology10 DOID:11721
ICD1027 E74.09
SNOMED-CT59 234406005, 89597008
MeSH36 D006014
MedGen34 C0017926
UMLS65 C0017926

Summaries for Glycogen Storage Disease Vii

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NIH Rare Diseases:45 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 due to muscle phosphofructokinase deficiency and osteoporosis, and has symptoms including myotonia, skeletal muscle atrophy and reduced erythrocyte 2,3-diphosphoglycerate concentration. An important gene associated with Glycogen Storage Disease Vii is PFKM (Phosphofructokinase, Muscle), and among its related pathways are Glycogen Metabolism and Central carbon metabolism in cancer. Affiliated tissues include skeletal muscle and liver, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:23 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:49 Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise... (232800) more...

UniProtKB/Swiss-Prot:67 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:68 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

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 reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271
4 increased muscle glycogen content HP:0009051
5 exercise-induced myoglobinuria HP:0008305
6 exercise-induced muscle cramps HP:0003710
7 increased total bilirubin HP:0003573
8 exercise intolerance HP:0003546
9 gout HP:0001997
10 reticulocytosis HP:0001923
11 hemolytic anemia HP:0001878
12 muscle weakness HP:0001324
13 cholelithiasis HP:0001081
14 jaundice HP:0000952

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 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 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 Hydrochloride
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
2Hypoglycemic AgentsPhase 14503
3ImmunoglobulinsPhase 14477
4Glycoside Hydrolase InhibitorsPhase 1111
5Cardiac GlycosidesPhase 1128
6Anti-Infective AgentsPhase 117220
7Anti-Retroviral AgentsPhase 12794
8Antiviral AgentsPhase 18071
9AntibodiesPhase 14477
10
AcetylcholineexperimentalPhase 068951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
11insulin4278
12Insulin, Globin Zinc4278
13Liver Extracts3572
14
Somatostatin15351110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
15Calcium, Dietary4678
16Pyridostigmine BromidePhase 022101-26-8
17BromidesPhase 0523
18Cholinergic AgentsPhase 03243
19Cholinesterase InhibitorsPhase 0498
20Pharmaceutical Solutions7004
21Neurotransmitter AgentsPhase 014795
22Hormones11748

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)RecruitingNCT02432768Phase 2
2A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
3Genetic and Family Studies of Inherited Muscle DiseasesCompletedNCT00001331
4Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
5Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
6Biomarker for Pompe DiseaseRecruitingNCT01457443
7Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle WeaknessRecruitingNCT02746718
8A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Phase 0
9Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489
10Impact of Physical Activity on Blood Glucose Stability and Energy Stores in Individuals With Type 1 DiabetesEnrolling by invitationNCT02068638
11Diet 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 Vii22 PFKM

Anatomical Context for Glycogen Storage Disease Vii

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MalaCards organs/tissues related to Glycogen Storage Disease Vii:

33
Skeletal muscle, Liver

Animal Models for Glycogen Storage Disease Vii or affiliated genes

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MGI Mouse Phenotypes related to Glycogen Storage Disease Vii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.4AMPD3, GBE1, MGAM, PFKM, PYGM, WDTC1

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:

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1PFKMp.Arg39LeuVAR_006063
2PFKMp.Arg39ProVAR_006064
3PFKMp.Arg100GlnVAR_006065rs2228500
4PFKMp.Gly209AspVAR_006066
5PFKMp.Asp543AlaVAR_006067
6PFKMp.Trp686CysVAR_006068
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:

idSuper pathwaysScoreTop Affiliating Genes
19.6GBE1, PYGM
29.5PFKM, PFKP
3
Show member pathways
9.5PFKM, PFKP
4
Show member pathways
9.5PFKM, PFKP
5
Show member pathways
9.5PFKM, PFKP
6
Show member pathways
8.8GBE1, MGAM, PYGM
7
Show member pathways
8.6GBE1, PFKM, PFKP, PYGM
8
Show member pathways
8.2MGAM, PFKM, PFKP, PYGM
9
Show member pathways
7.8GBE1, MGAM, PFKM, PFKP, PYGM
10
Show member pathways
7.3AMPD3, GBE1, MGAM, PFKM, PFKP, PYGM

GO Terms for genes affiliated with Glycogen Storage Disease Vii

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

idNameGO IDScoreTop Affiliating Genes
1glycolytic process through fructose-6-phosphateGO:00616159.7PFKM, PFKP
2carbohydrate metabolic processGO:00059758.6GBE1, PFKM, PFKP, PYGM

Sources for Glycogen Storage Disease Vii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet