GSD5
MCID: GLY004
MIFTS: 62
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Glycogen Storage Disease V (GSD5)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Glycogen Storage Disease V:
Characteristics:Orphanet epidemiological data:58
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 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
symptoms usually appear in adulthood 'second wind' phenomenon painful cramping following ischemic exercise test HPO:31
glycogen storage disease v:
Inheritance autosomal recessive inheritance Onset and clinical course juvenile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Liver diseases Nephrological diseases Blood diseases Muscle diseases Respiratory diseases Cardiovascular diseases
ICD10:
33
Orphanet: 58
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MedlinePlus Genetics :
43
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.People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind").Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases a protein called myoglobin, which is filtered through the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, and it is estimated that half of those individuals with GSDV who have myoglobinuria will develop life-threatening kidney failure.The signs and symptoms of GSDV can vary significantly in affected individuals. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. In most people with GSDV, the muscle weakness worsens over time; however, in about one-third of affected individuals, the muscle weakness is stable. Some people with GSDV experience mild symptoms such as poor stamina; others do not experience any symptoms.
MalaCards based summary : Glycogen Storage Disease V, also known as glycogen storage disease type v, is related to encephalopathy, progressive, early-onset, with episodic rhabdomyolysis and myopathy due to myoadenylate deaminase deficiency. 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 skeletal muscle, kidney and heart, and related phenotypes are exercise intolerance and glycogen accumulation in muscle fiber lysosomes GARD : 20 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. 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) (Updated 05-Mar-2021) KEGG : 36 Glycogen storage disease type V (GSD-V), also known as McArdle disease, is an autosomal recessive disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen phosphorylase. It is characterized by exercise intolerance, muscle cramping, and myoglobinuria. UniProtKB/Swiss-Prot : 73 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. Wikipedia : 74 Glycogen storage disease type V (GSD5, GSD-V), also known as McArdle's disease, is a metabolic disorder,... more...
GeneReviews:
NBK1344
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Human phenotypes related to Glycogen Storage Disease V:58 31 (show all 30)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:232600 265850 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Glycogen Storage Disease V:46
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Drugs for Glycogen Storage Disease V (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:(show all 14)
Cochrane evidence based reviews: glycogen storage disease type v |
MalaCards organs/tissues related to Glycogen Storage Disease V:40
Skeletal Muscle,
Kidney,
Heart,
Brain
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Articles related to Glycogen Storage Disease V:(show top 50) (show all 254)
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ClinVar genetic disease variations for Glycogen Storage Disease V:6 (show top 50) (show all 315)
UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease V:73 (show all 17)
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Search
GEO
for disease gene expression data for Glycogen Storage Disease V.
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Pathways related to Glycogen Storage Disease V according to KEGG:36
Pathways related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:
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Cellular components related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:
Biological processes related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:(show all 13)
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