Glycogen Storage Disease Vii (GSD7)

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Disease Ontology 12 DOID:11721 OMIM 56 232800 KEGG 36 H01945 MeSH 43 D006014 NCIt 49 C118437 SNOMED-CT 67 89597008 ICD10 32 E74.09

ICD10 via Orphanet 33 E74.0 UMLS via Orphanet 72 C0017926 Orphanet 58 ORPHA371 MedGen 41 C0017926 SNOMED-CT via HPO 68 165397008 170733007 176271000119108 18165001 190828008 258211005 26544005 266474003 267044007 271737000 3434004 35885006 46049004 48440001 61261009 74035001 90560007 more UMLS 71 C0017926

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. There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear. The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease. Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life. In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles). The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder.

MalaCards based summary : Glycogen Storage Disease Vii, also known as glycogen storage disease type vii, is related to myoglobinuria and metabolic myopathy, 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 eye, heart and kidney, and related phenotypes are anemia and myotonia

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle phosphofructokinase. It is characterized by exercise-induced muscle symptoms such as premature fatigue, painful cramps, and myoglobinuria. Additional symptoms include hemolysis and myogenic hyperuricemia.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Phosphofructokinase deficiency, is a rare muscular metabolic disorder, with an autosomal recessive... more...

Clinical features from OMIM:

232800

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased cell proliferation	GR00353-A	8.8	PFKL PFKM PFKP

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