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GSD5
MCID: GLY004
MIFTS: 56
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Glycogen Storage Disease V (GSD5)
Categories:
Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Glycogen Storage Disease V:
Characteristics:Orphanet epidemiological data:60
glycogen storage disease due to muscle glycogen phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
symptoms usually appear in adulthood 'second wind' phenomenon painful cramping following ischemic exercise test HPO:33
glycogen storage disease v:
Onset and clinical course juvenile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Nephrological diseases Liver diseases Blood diseases Endocrine diseases Gastrointestinal diseases Muscle diseases Cardiovascular diseases
ICD10:
35
External Ids:
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NIH Rare Diseases
:
54
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 adenosine monophosphate deaminase 1 deficiency and myoglobinuria. 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 Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and testes, and related phenotypes are elevated serum creatine kinase and myopathy Genetics Home Reference : 26 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 : 58 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 : 76 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. Wikipedia : 77 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...
GeneReviews:
NBK1344
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Human phenotypes related to Glycogen Storage Disease V:33 60 (show all 14)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:232600 265850GenomeRNAi Phenotypes related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:27
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Drugs for Glycogen Storage Disease V (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
Cochrane evidence based reviews: glycogen storage disease type v |
MalaCards organs/tissues related to Glycogen Storage Disease V:42
Kidney,
T Cells,
Testes,
Skeletal Muscle,
Liver,
Breast
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Articles related to Glycogen Storage Disease V:(show all 31)
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Genes related to Glycogen Storage Disease V (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease V:76 (show all 17)
ClinVar genetic disease variations for Glycogen Storage Disease V:6 (show top 50) (show all 297)
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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:38
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:
Molecular functions related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:
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