Glycogen Storage Disease Vii (GSD7) malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Liver diseases, Cardiovascular diseases, Muscle diseases, Nephrological diseases categories
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Genetics Home Reference:21 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.
MalaCards based summary: Glycogen Storage Disease Vii, also known as muscle phosphofructokinase deficiency, is related to hemolytic anemia and myopathy, and has symptoms including myotonia, anaemia and metabolic anomalies. An important gene associated with Glycogen Storage Disease Vii is PFKM (phosphofructokinase, muscle).
Wikipedia:65 Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui\'s disease, is... more...
Description from OMIM:46 232800
Glycogen Storage Disease Vii, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Blood diseases, Liver diseases, Cardiovascular diseases, Muscle diseases, Nephrological diseases
Characteristics (Orphanet epidemiological data):48
glycogen storage disease type 7:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood
Symptoms by clinical synopsis from OMIM:232800
Clinical features from OMIM:232800
HPO human phenotypes related to Glycogen Storage Disease Vii:(show all 18)
UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Vii:64
Clinvar genetic disease variations for Glycogen Storage Disease Vii:6
Search GEO for disease gene expression data for Glycogen Storage Disease Vii.
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet