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GSD7
MCID: GLY011
MIFTS: 51
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Glycogen Storage Disease Vii (GSD7)
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 Vii:
Characteristics:Orphanet epidemiological data:59
glycogen storage disease due to muscle phosphofructokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable severity exercise intolerance often evident in childhood late-adult onset has been reported a severe infantile variant has been rarely reported HPO:32
glycogen storage disease vii:
Onset and clinical course variable expressivity Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Blood diseases Nephrological diseases Liver diseases Endocrine diseases Gastrointestinal diseases Muscle diseases Cardiovascular diseases
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
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.
MalaCards based summary : Glycogen Storage Disease Vii, also known as glycogen storage disease type vii, is related to glycogen storage disease and congenital nonspherocytic hemolytic anemia, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Vii is PFKM (Phosphofructokinase, Muscle), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, testes and skeletal muscle, and related phenotypes are muscle weakness and anemia 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 : 57 Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder. (232800) UniProtKB/Swiss-Prot : 75 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 : 76 Phosphofructokinase deficiency, also known as glycogen storage disease type VII or Tarui''s disease, is... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:232800Human phenotypes related to Glycogen Storage Disease Vii:59 32 (show all 16)
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
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Drugs for Glycogen Storage Disease Vii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: glycogen storage disease type vii |
MalaCards organs/tissues related to Glycogen Storage Disease Vii:41
Liver,
Testes,
Skeletal Muscle,
Brain
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Articles related to Glycogen Storage Disease Vii:
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Genes related to Glycogen Storage Disease Vii (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Vii:75
ClinVar genetic disease variations for Glycogen Storage Disease Vii:6 (show top 50) (show all 92)
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Search
GEO
for disease gene expression data for Glycogen Storage Disease Vii.
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Pathways related to Glycogen Storage Disease Vii according to KEGG:37
Pathways related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:(show all 14)
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Cellular components related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:
Biological processes related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:
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