eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glycogen storage disease type vii | ||||
| Disease ID | 1328 |
|---|---|
| Disease | glycogen storage disease type vii |
| Definition | An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. |
| Synonym | defic muscle phosphofructokinase deficiencies, muscle phosphofructokinase deficiencies, pfkm deficiency, muscle phosphofructokinase deficiency, pfkm disease tarui disease, tarui disease, tarui's diseases tarui's glycogen storage dis vii glycogen storage disease type vii [disease/finding] glycogen storage disease vii glycogen storage disease, type 7 glycogen storage disease, type vii glycogen storage disease, type vii (disorder) glycogenosis 07 glycogenosis 7 glycogenosis type vii gsd vii gsd7 gsdvii muscle phosphofructokinase defic muscle phosphofructokinase deficiencies muscle phosphofructokinase deficiency muscle phosphofructokinase deficiency (disorder) pfk - muscle phosphofructokinase deficiency pfkm deficiencies pfkm deficiency phosphofructokinase deficiencies, muscle phosphofructokinase deficiency phosphofructokinase deficiency, muscle phosphofructokinase myopathy tarui dis tarui disease tarui's disease taruis dis taruis disease tauri disease |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0017926 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | (Waiting for update.) |
| Disease ID | 1328 |
|---|---|
| Disease | glycogen storage disease type vii |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0030271 | Reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0001997 | Gout HP:0000952 | Yellow skin HP:0008305 | Exercise-induced myoglobinuria HP:0003710 | Muscle cramps following exercise HP:0001878 | Haemolytic anaemia HP:0001923 | Reticulocytosis HP:0003573 | Increased bilirubin HP:0001324 | Muscular weakness HP:0003546 | Exercise intolerance HP:0009051 | Increased muscle glycogen content HP:0001081 | Gallstones |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1328 |
|---|---|
| Disease | glycogen storage disease type vii |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918193 | NA | 5213 | PFKM | umls:C0017926 | CLINVAR | NA | 0.563452799 | NA | PFKM | 12 | 48130393 | G | A,C,T |
| rs121918194 | NA | 5213 | PFKM | umls:C0017926 | CLINVAR | NA | 0.563452799 | NA | PFKM | 12 | 48142041 | A | C |
| rs121918195 | NA | 5213 | PFKM | umls:C0017926 | CLINVAR | NA | 0.563452799 | NA | PFKM;MIR6505 | 12 | 48132913 | C | T |
| rs121918196 | NA | 5213 | PFKM | umls:C0017926 | CLINVAR | NA | 0.563452799 | NA | PFKM | 12 | 48145096 | G | T |
| rs202143236 | NA | 5213 | PFKM | umls:C0017926 | CLINVAR | NA | 0.563452799 | NA | PFKM;MIR6505 | 12 | 48131394 | G | A |
| rs2228500 | 7825568 | 5213 | PFKM | umls:C0017926 | UNIPROT | Deficiency of muscle PFK (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. | 0.563452799 | 1995 | PFKM;MIR6505 | 12 | 48132929 | G | A |
| rs41291971 | 7825568 | 5213 | PFKM | umls:C0017926 | UNIPROT | Deficiency of muscle PFK (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. | 0.563452799 | 1995 | PFKM | 12 | 48145125 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003710 | Exercise-induced muscle cramps | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0003573 | Increased total bilirubin | MP:0005344 | increased circulating bilirubin level | increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0009051 | Increased muscle glycogen content | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0030271 | Reduced erythrocyte 2,3-diphosphoglycerate concentration | MP:0009395 | increased nucleated erythrocyte cell number | presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003573 | Increased total bilirubin | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0030271 | Reduced erythrocyte 2,3-diphosphoglycerate concentration | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0001923 | Reticulocytosis | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0003546 | Exercise intolerance | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0008305 | Exercise-induced myoglobinuria | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0009051 | Increased muscle glycogen content | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0003710 | Exercise-induced muscle cramps | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001081 | Cholelithiasis | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001997 | Gout | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 1328 |
|---|---|
| Disease | glycogen storage disease type vii |
| Case | (Waiting for update.) |