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MCID: GLY004
MIFTS: 54

Glycogen Storage Disease V

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases, Nephrological diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Glycogen Storage Disease V

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MalaCards integrated aliases for Glycogen Storage Disease V:

Name: Glycogen Storage Disease V 57 12 75 15
Glycogen Storage Disease Type V 12 76 24 25 59 37 44 73
Myophosphorylase Deficiency 57 12 76 24 53 25 59 75
Mcardle Disease 57 76 24 53 25 59 75 13
Muscle Glycogen Phosphorylase Deficiency 57 24 53 25
Glycogen Storage Disease, Type V 12 29 6
Glycogen Storage Disease Type 5 53 25 59
Pygm Deficiency 57 53 25
Gsd V 57 25 75
Mcardle Type Glycogen Storage Disease 53 25
Glycogenosis Type V 24 59
Mcardle's Disease 12 25
Gsd Type V 25 59
Pygmy 57 73
Gsd5 57 75
Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency 59
Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency 59
Gsd Due to Muscle Glycogen Phosphorylase Deficiency 59
Storage Disease, Glycogen, Type V 40
Muscle Phosphorylase Deficiency 25
Phosphorylase, Glycogen, Muscle 13
Glycogen Storage Disease 5 75
Glycogenosis Type 5 59
Mcardle Syndrome 25
Mcardles Disease 55
Pygmy, African 57
Glycogenosis 5 25
Gsd Type 5 59
Gsd 5 53
Gsd-V 75
Gsdv 24

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to muscle glycogen phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
symptoms usually appear in adulthood
'second wind' phenomenon
painful cramping following ischemic exercise test


HPO:

32
glycogen storage disease v:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance

pygmy:
Inheritance autosomal recessive inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Cardiovascular diseases Blood diseases Muscle diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2746
ICD10 33 E74.04
MeSH 44 D006012
NCIt 50 C84738
SNOMED-CT 68 55912009
Orphanet 59 ORPHA368
ICD10 via Orphanet 34 E74.0
MESH via Orphanet 45 C537276 D006012
UMLS via Orphanet 74 C0017924 C2936916
KEGG 37 H01943
Sources

Summaries for Glycogen Storage Disease V

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NIH Rare Diseases : 53 Glycogen storage disease type 5 (GSDV) is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Usually, when people with this disease rest after brief exercise they can resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). The signs and symptoms can vary significantly and may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. It is caused by mutations in the PYGM gene and is inherited in an autosomal recessive fashion. There is no cure or specific treatment but the disease can be managed with moderate-intensity aerobic training (e.g., walking or brisk walking, bicycling) and diet.

MalaCards based summary : Glycogen Storage Disease V, also known as glycogen storage disease type v, is related to myoglobinuria and glycogen storage disease. An important gene associated with Glycogen Storage Disease V is PYGM (Glycogen Phosphorylase, Muscle Associated), and among its related pathways/superpathways are Starch and sucrose metabolism and Insulin signaling pathway. The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include testes and skeletal muscle, and related phenotypes are renal insufficiency and abnormality of the cardiovascular system

Genetics Home Reference : 25 Glycogen storage disease type V (also known as GSDV or McArdle disease) 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 McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria (summary by Chen, 2001). (232600)

UniProtKB/Swiss-Prot : 75 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.

Wikipedia : 76 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...

GeneReviews: NBK1344
Sources

Related Diseases for Glycogen Storage Disease V

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Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease V via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 myoglobinuria 29.4 CPT2 PFKM PYGM
2 glycogen storage disease 27.6 GAA PFKM PHKA1 PYGL PYGM
3 myopathy 27.3 AMPD1 CHKB CPT2 GAA PFKM PYGM
4 muscular phosphorylase kinase deficiency 11.0
5 myoglobinuria, acute recurrent, autosomal recessive 10.9
6 phosphoglycerate mutase deficiency 10.9
7 phosphoglycerate kinase deficiency 10.3 PFKM PYGM
8 myoglobinuria, recurrent 10.2 CPT2 PYGM
9 adenosine monophosphate deaminase 1 deficiency 10.1 AMPD1 AMPD3
10 glycogen storage disease ii 10.1 GAA PYGM
11 insulin-like growth factor i 10.0
12 oculopharyngeal muscular dystrophy 10.0 GAA PYGM
13 salmonellosis 9.9
14 carbohydrate metabolic disorder 9.9 GAA PFKM PYGM
15 yaws 9.8
16 thyroiditis 9.8
17 glycogen storage disease vii 9.8 AMPD3 PFKM PYGM
18 multiple sclerosis 9.8
19 inclusion body myositis 9.8
20 myositis 9.8
21 mitochondrial myopathy 9.8
22 muscle hypertrophy 9.8
23 acute kidney failure 9.8
24 dilated cardiomyopathy 9.8
25 compartment syndrome 9.8
26 meningitis 9.8
27 neuromuscular disease 9.7 AMPD1 GAA
28 chondrosarcoma 9.7
29 focal epithelial hyperplasia, oral 9.7
30 aging 9.7
31 alpha-thalassemia 9.7
32 alopecia 9.7
33 leukemia 9.7
34 thalassemia 9.7
35 pseudopterygium 9.7
36 chlamydia 9.7
37 goiter 9.7
38 crimean-congo hemorrhagic fever 9.7
39 relapsing fever 9.7
40 endemic goiter 9.7
41 rift valley fever 9.7
42 coccidioidomycosis 9.7
43 histoplasmosis 9.7
44 leiomyosarcoma 9.7
45 astrocytoma 9.7
46 grade iii astrocytoma 9.7
47 avian influenza 9.7
48 mesenchymal chondrosarcoma 9.7
49 focal epithelial hyperplasia 9.7
50 kidney disease 9.7

Graphical network of the top 20 diseases related to Glycogen Storage Disease V:



Diseases related to Glycogen Storage Disease V
Sources

Symptoms & Phenotypes for Glycogen Storage Disease V

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Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
myoglobinuria
dark urine following exercise

Laboratory Abnormalities:
increased creatine kinase
muscle glycogen phosphorylase deficiency
increased ammonia with exercise
increased uric acid with exercise

Muscle Soft Tissue:
rhabdomyolysis
skeletal muscle weakness
decreased exercise capacity
muscle pain and cramps following exercise


Clinical features from OMIM:

232600 265850

Human phenotypes related to Glycogen Storage Disease V:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 abnormality of the cardiovascular system 59 32 occasional (7.5%) Occasional (29-5%) HP:0001626
3 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
4 elevated serum creatine phosphokinase 59 32 very rare (1%) Very frequent (99-80%) HP:0003236
5 muscle weakness 32 very rare (1%) HP:0001324
6 myoglobinuria 32 very rare (1%) HP:0002913
7 exercise-induced muscle cramps 32 HP:0003710
8 exercise-induced myalgia 32 HP:0003738
9 exercise-induced rhabdomyolysis 32 HP:0009045
10 abnormality of the endocrine system 32 HP:0000818
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 short stature 32 HP:0004322

GenomeRNAi Phenotypes related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.32 PFKM CHKB
2 Decreased viability GR00221-A-2 10.32 CHKB PFKM PHKA1 CPT2
3 Decreased viability GR00221-A-3 10.32 CHKB PFKM PHKA1
4 Decreased viability GR00221-A-4 10.32 CHKB CPT2
5 Decreased viability GR00301-A 10.32 CHKB
6 Decreased viability GR00402-S-2 10.32 PFKM PHKA1 CHKB CPT2
7 Decreased viability after gemcitabine stimulation GR00107-A-2 8.96 PFKM PHKA1
8 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 GAA PFKM PHKA1 PYGL

MGI Mouse Phenotypes related to Glycogen Storage Disease V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 AMPD3 CHKB CPT2 GAA PFKM PHKA1
2 muscle MP:0005369 9.02 CHKB GAA PFKM PHKA1 PYGM
Sources

Drugs & Therapeutics for Glycogen Storage Disease V

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
2 Anticonvulsants Phase 2
3 Antimanic Agents Phase 2
4 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Neurotransmitter Agents Phase 2
7 Psychotropic Drugs Phase 2
8 Tranquilizing Agents Phase 2
9 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin in Mc Ardle Unknown status NCT02919631 Phase 2 Triheptanoin;Placebo oil
2 Sodium Valproate for GSDV Completed NCT03112889 Phase 2 Sodium Valproate
3 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT02432768 Phase 2 Triheptanoin
4 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
5 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
6 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
7 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923

Search NIH Clinical Center for Glycogen Storage Disease V

Cochrane evidence based reviews: glycogen storage disease type v

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Genetic Tests for Glycogen Storage Disease V

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Genetic tests related to Glycogen Storage Disease V:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type V 29 PYGM
Sources

Anatomical Context for Glycogen Storage Disease V

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MalaCards organs/tissues related to Glycogen Storage Disease V:

41
Testes, Skeletal Muscle
Sources

Publications for Glycogen Storage Disease V

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Articles related to Glycogen Storage Disease V:

(show all 11)
# Title Authors Year
1
Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V. ( 27273923 )
2016
2
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 25391139 )
2014
3
McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature. ( 23565573 )
2013
4
Glycogen storage disease type V (Mc Ardle's disease): a report on three cases. ( 22234204 )
2011
5
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 21154353 )
2010
6
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 18425888 )
2008
7
Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: confirmation by PCR-RFLP testing. ( 15768143 )
2004
8
Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V). ( 15266486 )
2004
9
Adenovirus-mediated delivery into myocytes of muscle glycogen phosphorylase, the enzyme deficient in patients with glycogen-storage disease type V. ( 7818463 )
1994
10
Glycogen Storage Disease Type V ( 20301518 )
1993
11
Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII. ( 3861621 )
1985
Sources

Variations for Glycogen Storage Disease V

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

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 PYGM p.Gly205Ser VAR_003431 rs119103251
2 PYGM p.Leu397Pro VAR_003432 rs1005687078Glycogen
3 PYGM p.Lys543Thr VAR_003433 rs119103252
4 PYGM p.Glu655Lys VAR_003434 rs119103253
5 PYGM p.Leu116Pro VAR_014002 rs776680924
6 PYGM p.Arg194Trp VAR_014003 rs376581557
7 PYGM p.Leu292Pro VAR_014004 rs780375860
8 PYGM p.Glu349Lys VAR_014005
9 PYGM p.Thr488Asn VAR_014006
10 PYGM p.Arg602Trp VAR_014007 rs750195683
11 PYGM p.Ala660Asp VAR_014008
12 PYGM p.Gln666Glu VAR_014009 rs119103256
13 PYGM p.Asn685Tyr VAR_014010
14 PYGM p.Gly686Arg VAR_014011 rs144081869
15 PYGM p.Ala687Pro VAR_014012
16 PYGM p.Ala704Val VAR_014013
17 PYGM p.Trp798Arg VAR_014015 rs119103258

ClinVar genetic disease variations for Glycogen Storage Disease V:

6
(show top 50) (show all 199)
# Gene Variation Type Significance SNP ID Assembly Location
1 PYGM PYGM, IVS14, G-A, +1 deletion Pathogenic
2 PYGM NM_005609.3(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 GRCh37 Chromosome 11, 64527223: 64527223
3 PYGM NM_005609.3(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 GRCh38 Chromosome 11, 64759751: 64759751
4 PYGM NM_005609.3(PYGM): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs119103251 GRCh37 Chromosome 11, 64525298: 64525298
5 PYGM NM_005609.3(PYGM): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs119103251 GRCh38 Chromosome 11, 64757826: 64757826
6 PYGM NM_005609.3(PYGM): c.1628A> C (p.Lys543Thr) single nucleotide variant Pathogenic rs119103252 GRCh37 Chromosome 11, 64519536: 64519536
7 PYGM NM_005609.3(PYGM): c.1628A> C (p.Lys543Thr) single nucleotide variant Pathogenic rs119103252 GRCh38 Chromosome 11, 64752064: 64752064
8 PYGM NM_005609.3(PYGM): c.1963G> A (p.Glu655Lys) single nucleotide variant Pathogenic rs119103253 GRCh37 Chromosome 11, 64518803: 64518803
9 PYGM NM_005609.3(PYGM): c.1963G> A (p.Glu655Lys) single nucleotide variant Pathogenic rs119103253 GRCh38 Chromosome 11, 64751331: 64751331
10 PYGM NM_005609.3(PYGM): c.1996C> G (p.Gln666Glu) single nucleotide variant Pathogenic rs119103256 GRCh37 Chromosome 11, 64518029: 64518029
11 PYGM NM_005609.3(PYGM): c.1996C> G (p.Gln666Glu) single nucleotide variant Pathogenic rs119103256 GRCh38 Chromosome 11, 64750557: 64750557
12 PYGM NM_005609.3(PYGM): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs119103254 GRCh37 Chromosome 11, 64521403: 64521403
13 PYGM NM_005609.3(PYGM): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs119103254 GRCh38 Chromosome 11, 64753931: 64753931
14 PYGM NM_005609.3(PYGM): c.2056G> A (p.Gly686Arg) single nucleotide variant Pathogenic rs144081869 GRCh37 Chromosome 11, 64517969: 64517969
15 PYGM NM_005609.3(PYGM): c.2056G> A (p.Gly686Arg) single nucleotide variant Pathogenic rs144081869 GRCh38 Chromosome 11, 64750497: 64750497
16 PYGM NM_005609.3(PYGM): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic/Likely pathogenic rs119103255 GRCh37 Chromosome 11, 64519438: 64519438
17 PYGM NM_005609.3(PYGM): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic/Likely pathogenic rs119103255 GRCh38 Chromosome 11, 64751966: 64751966
18 PYGM NM_005609.3(PYGM): c.1725delA (p.Lys575Asnfs) deletion Pathogenic rs786200874 GRCh37 Chromosome 11, 64519439: 64519439
19 PYGM NM_005609.3(PYGM): c.1725delA (p.Lys575Asnfs) deletion Pathogenic rs786200874 GRCh38 Chromosome 11, 64751967: 64751967
20 PYGM NM_005609.3(PYGM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs267606993 GRCh37 Chromosome 11, 64527370: 64527370
21 PYGM NM_005609.3(PYGM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs267606993 GRCh38 Chromosome 11, 64759898: 64759898
22 PYGM NM_005609.3(PYGM): c.1621G> T (p.Glu541Ter) single nucleotide variant Pathogenic rs119103257 GRCh37 Chromosome 11, 64519543: 64519543
23 PYGM NM_005609.3(PYGM): c.1621G> T (p.Glu541Ter) single nucleotide variant Pathogenic rs119103257 GRCh38 Chromosome 11, 64752071: 64752071
24 PYGM PYGM, 1-BP INS, A/8-BP DEL, CODON 387 indel Pathogenic
25 PYGM NM_005609.3(PYGM): c.2392T> C (p.Trp798Arg) single nucleotide variant Pathogenic rs119103258 GRCh37 Chromosome 11, 64514268: 64514268
26 PYGM NM_005609.3(PYGM): c.2392T> C (p.Trp798Arg) single nucleotide variant Pathogenic rs119103258 GRCh38 Chromosome 11, 64746796: 64746796
27 PYGM NM_005609.3(PYGM): c.1827G> A (p.Lys609=) single nucleotide variant Likely pathogenic rs119103259 GRCh37 Chromosome 11, 64519069: 64519069
28 PYGM NM_005609.3(PYGM): c.1827G> A (p.Lys609=) single nucleotide variant Likely pathogenic rs119103259 GRCh38 Chromosome 11, 64751597: 64751597
29 PYGM NM_005609.3(PYGM): c.1722T> G (p.Tyr574Ter) single nucleotide variant Likely pathogenic rs119103260 GRCh37 Chromosome 11, 64519442: 64519442
30 PYGM NM_005609.3(PYGM): c.1722T> G (p.Tyr574Ter) single nucleotide variant Likely pathogenic rs119103260 GRCh38 Chromosome 11, 64751970: 64751970
31 PYGM NM_005609.2(PYGM): c.425_528del single nucleotide variant Likely pathogenic rs764313717 GRCh38 Chromosome 11, 64758375: 64758375
32 PYGM NM_005609.2(PYGM): c.425_528del single nucleotide variant Likely pathogenic rs764313717 GRCh37 Chromosome 11, 64525847: 64525847
33 PYGM NM_005609.3(PYGM): c.152A> G (p.Asp51Gly) single nucleotide variant Pathogenic rs397514631 GRCh37 Chromosome 11, 64527219: 64527219
34 PYGM NM_005609.3(PYGM): c.152A> G (p.Asp51Gly) single nucleotide variant Pathogenic rs397514631 GRCh38 Chromosome 11, 64759747: 64759747
35 PYGM PYGM, 3-BP DEL, 158ACT deletion Pathogenic
36 PYGM NM_005609.3(PYGM): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic/Likely pathogenic rs398124208 GRCh37 Chromosome 11, 64521028: 64521028
37 PYGM NM_005609.3(PYGM): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic/Likely pathogenic rs398124208 GRCh38 Chromosome 11, 64753556: 64753556
38 PYGM NM_005609.3(PYGM): c.1466C> G (p.Pro489Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398124209 GRCh37 Chromosome 11, 64520597: 64520597
39 PYGM NM_005609.3(PYGM): c.1466C> G (p.Pro489Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398124209 GRCh38 Chromosome 11, 64753125: 64753125
40 PYGM NM_005609.3(PYGM): c.2262delA (p.Lys754Asnfs) deletion Pathogenic rs398124210 GRCh37 Chromosome 11, 64514746: 64514746
41 PYGM NM_005609.3(PYGM): c.2262delA (p.Lys754Asnfs) deletion Pathogenic rs398124210 GRCh38 Chromosome 11, 64747274: 64747274
42 PYGM NM_005609.3(PYGM): c.255C> A (p.Tyr85Ter) single nucleotide variant Likely pathogenic rs527236146 GRCh38 Chromosome 11, 64758693: 64758693
43 PYGM NM_005609.3(PYGM): c.255C> A (p.Tyr85Ter) single nucleotide variant Likely pathogenic rs527236146 GRCh37 Chromosome 11, 64526165: 64526165
44 PYGM NM_005609.3(PYGM): c.2128_2130delTTC (p.Phe710del) deletion Likely pathogenic rs527236147 GRCh38 Chromosome 11, 64750423: 64750425
45 PYGM NM_005609.3(PYGM): c.2128_2130delTTC (p.Phe710del) deletion Likely pathogenic rs527236147 GRCh37 Chromosome 11, 64517895: 64517897
46 PYGM NM_005609.3(PYGM): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs267606993 GRCh38 Chromosome 11, 64759898: 64759898
47 PYGM NM_005609.3(PYGM): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs267606993 GRCh37 Chromosome 11, 64527370: 64527370
48 PYGM NM_005609.3(PYGM): c.848A> G (p.Asn283Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs114468011 GRCh37 Chromosome 11, 64522752: 64522752
49 PYGM NM_005609.3(PYGM): c.848A> G (p.Asn283Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs114468011 GRCh38 Chromosome 11, 64755280: 64755280
50 PYGM NM_005609.3(PYGM): c.1797delT (p.Phe599Leufs) deletion Likely pathogenic rs769960481 GRCh38 Chromosome 11, 64751627: 64751627
Sources

Expression for Glycogen Storage Disease V

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Search GEO for disease gene expression data for Glycogen Storage Disease V.
Sources

Pathways for Glycogen Storage Disease V

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Pathways related to Glycogen Storage Disease V according to KEGG:

37
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500
2 Insulin signaling pathway hsa04910

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.44 AMPD1 AMPD3 CHKB CPT2 GAA PFKM
2
Glycosaminoglycan metabolism 66
Show member pathways
 12.47 GAA PFKM PHKA1 PYGL PYGM
3
Glucose metabolism 66
Show member pathways
 11.93 GAA PFKM PHKA1 PYGL PYGM
4
Glucagon signaling pathway 37
11.56 PHKA1 PYGL PYGM
5
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.13 CHKB CPT2
6
Galactose metabolism 37 22
Show member pathways
 11.01 GAA PFKM PYGL PYGM
7
Glycogen Metabolism 1
10.99 PHKA1 PYGL PYGM
Sources

GO Terms for Glycogen Storage Disease V

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.17 AMPD1 AMPD3 CHKB PFKM PHKA1 PYGL

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.71 GAA PFKM PYGL PYGM
2 nucleotide metabolic process GO:0009117 9.46 AMPD1 AMPD3
3 carbohydrate metabolic process GO:0005975 9.46 GAA PHKA1 PYGL PYGM
4 muscle cell cellular homeostasis GO:0046716 9.43 GAA PFKM
5 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.37 AMPD1 AMPD3
6 purine-containing compound salvage GO:0043101 9.32 AMPD1 AMPD3
7 IMP salvage GO:0032264 9.26 AMPD1 AMPD3
8 glycogen metabolic process GO:0005977 9.26 GAA PHKA1 PYGL PYGM
9 glycogen catabolic process GO:0005980 9.02 GAA PFKM PHKA1 PYGL PYGM

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 CHKB CPT2 PFKM PYGL PYGM
2 catalytic activity GO:0003824 9.67 GAA PFKM PYGL PYGM
3 pyridoxal phosphate binding GO:0030170 9.43 PYGL PYGM
4 deaminase activity GO:0019239 9.4 AMPD1 AMPD3
5 phosphorylase activity GO:0004645 9.32 PYGL PYGM
6 AMP deaminase activity GO:0003876 9.26 AMPD1 AMPD3
7 SHG alpha-glucan phosphorylase activity GO:0102499 9.16 PYGL PYGM
8 linear malto-oligosaccharide phosphorylase activity GO:0102250 8.96 PYGL PYGM
9 glycogen phosphorylase activity GO:0008184 8.62 PYGL PYGM
Sources

Sources for Glycogen Storage Disease V

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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