MCID: GLY011
MIFTS: 49

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 52 11 70 12 13
Glycogen Storage Disease Type Vii 11 24 25 54 39 68
Tarui Disease 48 24 25 54 70
Muscle Phosphofructokinase Deficiency 11 48 25 70
Phosphofructokinase Deficiency 24 25 50
Pfkm Deficiency 48 25 70
Gsd Vii 24 25 70
Gsd7 48 25 70
Glycogen Storage Disease Type 7 48 54
Glycogen Storage Disease 7 70 27
Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency 54
Glycogenosis Due to Muscle Phosphofructokinase Deficiency 54
 
Gsd Due to Muscle Phosphofructokinase Deficiency 54
Glycogen Storage Disease, Type Vii 11
Phosphofructokinase, Muscle Type 12
Phosphofructokinase Myopathy 11
Glycogenosis Type Vii 54
Glycogenosis Type 7 54
Glycogenosis 7 25
Pfk Deficiency 24
Gsd Type Vii 54
Gsd Type 7 54
Gsd-Vii 70
Gsdvii 24

Characteristics:

Orphanet epidemiological data:

54
glycogen storage disease type vii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
glycogen storage disease vii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 232800
Disease Ontology11 DOID:11721
ICD1030 E74.09
MeSH39 D006014
NCIt45 C118437
SNOMED-CT62 234406005, 89597008
Orphanet54 ORPHA371
UMLS via Orphanet69 C0017926
ICD10 via Orphanet31 E74.0
MedGen37 C0017926

Summaries for Glycogen Storage Disease Vii

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NIH Rare Diseases:48 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 pheochromocytoma-islet cell tumor syndrome and glycogen storage 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 Glycogen Metabolism and Glucagon signaling pathway. Affiliated tissues include liver and skeletal muscle, and related mouse phenotypes are Decreased viability after gemcitabine stimulation and Decreased cell proliferation.

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

UniProtKB/Swiss-Prot:70 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:71 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 & Phenotypes for Glycogen Storage Disease Vii

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Symptoms by clinical synopsis from OMIM:

232800

Clinical features from OMIM:

232800

Human phenotypes related to Glycogen Storage Disease Vii:

 64 54 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0002486
2 skeletal muscle atrophy64 54 typical (50%) Frequent (79-30%) HP:0003202
3 jaundice64 HP:0000952
4 cholelithiasis64 HP:0001081
5 muscle weakness64 54 Frequent (79-30%) HP:0001324
6 hemolytic anemia64 HP:0001878
7 reticulocytosis64 HP:0001923
8 gout64 HP:0001997
9 exercise intolerance64 HP:0003546
10 increased total bilirubin64 HP:0003573
11 exercise-induced muscle cramps64 HP:0003710
12 exercise-induced myoglobinuria64 HP:0008305
13 increased muscle glycogen content64 54 Very frequent (99-80%) HP:0009051
14 reduced erythrocyte 2,3-diphosphoglycerate concentration64 HP:0030271
15 anemia54 Very frequent (99-80%)
16 hyperuricemia54 Frequent (79-30%)

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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00107-A-29.6PFKM, PFKP
2GR00353-A9.5PFKL, PFKM, PFKP

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 25)
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 [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-DeoxynojirimycinexperimentalPhase 12619130-96-21374
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
3Hypoglycemic AgentsPhase 15733
4Glycoside Hydrolase InhibitorsPhase 1128
5ImmunoglobulinsPhase 16045
6Cardiac GlycosidesPhase 1148
7AntibodiesPhase 16045
8Anti-HIV AgentsPhase 13100
9Anti-Infective AgentsPhase 121402
10Antiviral AgentsPhase 19732
11Anti-Retroviral AgentsPhase 13232
12
AcetylcholineapprovedEarly Phase 177651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
13
Somatostatinapproved22938916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
14Pharmaceutical Solutions7793
15insulin4524
16Insulin, Globin Zinc4523
17Hormones13979
18Calcium, Dietary5525
19Liver Extracts3868
20Pyridostigmine BromideEarly Phase 125101-26-8
21Cholinesterase InhibitorsEarly Phase 1570
22AnticonvulsantsEarly Phase 12620
23BromidesEarly Phase 1606
24Cholinergic AgentsEarly Phase 13846
25Neurotransmitter AgentsEarly Phase 117734

Interventional clinical trials:

(show all 13)
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
3VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe DiseaseNot yet recruitingNCT02898753Phase 1, Phase 2
4A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
5Impact of Physical Activity on Blood Glucose Stability and Energy Stores in Individuals With Type 1 DiabetesCompletedNCT02068638
6Genetic and Family Studies of Inherited Muscle DiseasesCompletedNCT00001331
7Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
8Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
9Biomarker for Pompe DiseaseRecruitingNCT01457443
10A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Early Phase 1
11Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle WeaknessRecruitingNCT02746718
12Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489
13Diet and Exercise in Pompe DiseaseNot yet recruitingNCT02363153Early Phase 1

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 Vii27
2 Glycogen Storage Disease Type Vii24 PFKM

Anatomical Context for Glycogen Storage Disease Vii

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MalaCards organs/tissues related to Glycogen Storage Disease Vii:

36
Liver, Skeletal muscle

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:

70 (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, +1SNVPathogenicChr na, -1: -1
2PFKMPFKM, IVS6AS, A-C, -2SNVPathogenicChr na, -1: -1
3PFKMNM_001166686.1(PFKM): c.329G> C (p.Arg110Pro)SNVPathogenicrs121918193GRCh37Chr 12, 48524176: 48524176
4PFKMNM_001166686.1(PFKM): c.1841A> C (p.Asp614Ala)SNVPathogenicrs121918194GRCh37Chr 12, 48535824: 48535824
5PFKMPFKM, IVS5DS, G-A, +1SNVPathogenicChr na, -1: -1
6PFKMNM_001166686.1(PFKM): c.329G> T (p.Arg110Leu)SNVPathogenicrs121918193GRCh37Chr 12, 48524176: 48524176
7PFKMNM_001166686.1(PFKM): c.496C> T (p.Arg166Ter)SNVPathogenicrs121918195GRCh37Chr 12, 48526696: 48526696
8PFKMNM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys)SNVPathogenicrs121918196GRCh37Chr 12, 48538879: 48538879
9PFKMPFKM, 1-BP DEL, 2003CdeletionPathogenicChr na, -1: -1
10PFKMNM_000289.5(PFKM): c.237+1G> ASNVPathogenicrs202143236GRCh37Chr 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 14)
idSuper pathwaysScoreTop Affiliating Genes
19.8GBE1, PYGM
29.5PFKL, PYGM
3
Show member pathways
9.0PFKL, PFKM, PFKP
4
Show member pathways
9.0PFKL, PFKM, PFKP
5
Show member pathways
9.0PFKL, PFKM, PFKP
6
Show member pathways
9.0PFKL, PFKM, PFKP
7
Show member pathways
9.0PFKL, PFKM, PFKP
8
Show member pathways
9.0PFKL, PFKM, PFKP
99.0PFKL, PFKM, PFKP
10
Show member pathways
8.9GBE1, MGAM, PYGM
11
Show member pathways
8.3GBE1, PFKL, PFKM, PFKP, PYGM
12
Show member pathways
7.8MGAM, PFKL, PFKM, PFKP, PYGM
13
Show member pathways
7.5GBE1, MGAM, PFKL, PFKM, PFKP, PYGM
14
Show member pathways
7.1AMPD3, GBE1, MGAM, 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:000594510.3PFKL, PFKM
2cytosolGO:00058298.1AMPD3, GBE1, PFKL, PFKM, PFKP, PYGM
3extracellular exosomeGO:00700627.5GBE1, MGAM, PFKL, PFKM, PFKP, PYGM

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:000598010.4PFKM, PYGM
2glycogen metabolic processGO:000597710.3GBE1, PYGM
3glycolytic processGO:000609610.0PFKL, PFKM
4glycolytic process through fructose-6-phosphateGO:006161510.0PFKL, PFKM
5canonical glycolysisGO:00616219.6PFKL, PFKM, PFKP
6fructose 6-phosphate metabolic processGO:00060029.6PFKL, PFKM, PFKP
7protein oligomerizationGO:00512599.5PFKL, PFKM

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

idNameGO IDScoreTop Affiliating Genes
1fructose bindingGO:007006110.0PFKL, PFKM
26-phosphofructokinase activityGO:00038729.6PFKL, PFKM, PFKP
3kinase bindingGO:00199009.5PFKL, PFKM
4carbohydrate bindingGO:00302469.5GBE1, MGAM, PYGM

Sources for Glycogen Storage Disease Vii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet