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
OMIM:46 Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise... (232800) more...
MalaCards based summary: Glycogen Storage Disease Vii, also known as muscle phosphofructokinase deficiency, is related to hemolytic anemia and myopathy, and has symptoms including anemia, myotonia and hyperuricemia. An important gene associated with Glycogen Storage Disease Vii is PFKM (phosphofructokinase, muscle).
Genetics Home Reference:22 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.
Wikipedia:64 Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui\'s disease, is... more...
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:63
Clinvar genetic disease variations for Glycogen Storage Disease Vii:7
Search GEO for disease gene expression data for Glycogen Storage Disease Vii.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet