Glycogen Storage Disease V (GSDV) malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
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21Genetics Home Reference, 42NIH Rare Diseases, 65Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Glycogen storage disease type 5 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. signs and symptoms may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. symptoms tend to begin in early adulthood (20s-30s). it is caused by mutations in the pygm gene and is inherited in an autosomal recessive fashion. last updated: 4/15/2010
MalaCards based summary: Glycogen Storage Disease V, also known as mcardle disease, is related to glycogen storage disease and insulin resistance, and has symptoms including abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase, autosomal recessive inheritance and myopathy. An important gene associated with Glycogen Storage Disease V is PYGM (phosphorylase, glycogen, muscle), and among its related pathways is Metabolism. The compounds carnitine and pyruvate have been mentioned in the context of this disorder.
Genetics Home Reference:21 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.
Wikipedia:65 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...
Description from OMIM:46 232600
GeneReviews summary for gsd5
Glycogen Storage Disease V, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal
Symptoms by clinical synopsis from OMIM:232600
Clinical features from OMIM:232600
HPO human phenotypes related to Glycogen Storage Disease V:(show all 16)
UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease V:64 (show all 17)
Clinvar genetic disease variations for Glycogen Storage Disease V:6 (show all 20)
Search GEO for disease gene expression data for Glycogen Storage Disease V.
Compounds related to Glycogen Storage Disease V according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet