Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (35.3%) |
18073478 |
Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease). Finsterer J, Stollberger C. Cardiology. 2008;110(4):238-40. |
Facial palsy | ||
Disease Progression Echocardiography, Transesophageal Females Glycogen Storage Disease Type VII Homo sapiens Mitral Valve Mitral Valve Insufficiency Muscle Cramp | ||
1 (35.3%) |
12597313 |
Neurologic and cardiac progression of glycogenosis type VII over an eight-year period. Finsterer J, Stollberger C, Kopsa W. South Med J. 2002;95(12):1436-40. |
Facial palsy | ||
Angina Pectoris Disease Progression Electrocardiography Epilepsy, Partial, Sensory Females Glycogen Storage Disease Type VII Heart Diseases Homo sapiens Muscle Cramp Time Factors Vision Disorders | ||
3 (21.2%) |
7794557 |
Fetal akinesia sequence caused by glycogenosis type VII. Moerman P, Lammens M, Fryns JP, Lemmens F, Lauweryns JM. Genet Couns. 1995;6(1):15-20. |
Fetal akinesia sequence Multiple joint contractures | ||
6-Phosphofructokinase Brain Contracture Fatal Outcome Gliosis Glycogen Storage Disease Type VII Homo sapiens Infant, Newborn Joints Male Muscle Tissue Preterm Infant | ||
4 (17.5%) |
27142047 |
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. JIMD Rep. 2017;31:79-83. |
Cardiomyopathy Proximal muscle weakness | ||
GAA PRKAG2 | ||
c|DEL|525|T;RS#:386834235 c|SUB|C|309|G p|FS|E|176|R|45;RS#:386834235 rs386834235 | ||
4 (17.5%) |
10809925 |
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Aasly J, van Diggelen OP, Boer AM, Bronstad G. Eur J Neurol. 2000;7(1):111-3. |
Myoglobinuria Rhabdomyolysis | ||
Adult Differential Diagnosis Exercise Tolerance Glycogen Storage Disease Type V Glycogen Storage Disease Type VII Homo sapiens Inborn Errors of Metabolism Male Myoglobinuria Nuclear Family | ||
4 (17.5%) |
8880699 |
Muscle phosphofructokinase deficiency in two generations. Vorgerd M, Karitzky J, Ristow M, Van Schaftingen E, Tegenthoff M, Jerusalem F, Malin JP. J Neurol Sci. 1996;141(1-2):95-9. |
Myopathy | ||
6-Phosphofructokinase Adult Biopsy Erythrocytes Exons Females Glycogen Storage Disease Type VII Homo sapiens Introns Male Middle Aged Point Mutation | ||
4 (17.5%) |
8659544 |
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N. Am J Hum Genet. 1996;59(1):59-65. |
Myopathy | ||
PFKM | ||
c|SUB|G|1127|A;RS#:187131358 rs187131358 | ||
6-Phosphofructokinase Adult Alternative Splicing Base Sequence DNA Primers Exons Females Glycogen Storage Disease Type VII Heterozygote Homo sapiens Introns Isoenzymes Male Middle Aged Molecular Sequence Data Muscle Tissue Mutation Polymerase Chain Reaction RNA, Messenger Sweden | ||
4 (17.5%) |
8444874 |
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). Raben N, Sherman J, Miller F, Mena H, Plotz P. J Biol Chem. 1993;268(7):4963-7. |
Myopathy | ||
PFKM | ||
rs202143236 | ||
6-Phosphofructokinase Base Sequence Cell Line, Transformed DNA DNA Mutational Analysis Exons Females Glycogen Storage Disease Type VII Homo sapiens Jews Male Middle Aged Molecular Sequence Data Mutation Polymerase Chain Reaction RNA Splicing RNA, Messenger Sequence Deletion | ||
4 (17.5%) |
7479776 |
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG. Proc Natl Acad Sci U S A. 1995;92(22):10322-6. |
Myopathy | ||
PFKM | ||
rs121918195 | ||
6-Phosphofructokinase Amino Acid Sequence Base Sequence DNA Primers Exons Females Genotype Glycogen Storage Disease Type VII Homo sapiens Introns Jews Macromolecular Substances Male Middle Aged Molecular Sequence Data Mutation Point Mutation Polymerase Chain Reaction Sequence Deletion | ||
4 (17.5%) |
6444532 |
The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S. Blood. 1980;55(4):629-35. |
Muscle weakness | ||
PFKFB3 | ||
6-Phosphofructokinase Adult Blood Platelets Diphosphoglyceric Acids Erythrocytes Homo sapiens Isoenzymes Leukocytes Liver Male Myoglobinuria |
Total: 6
HPO ID | Term | Frequency |
---|---|---|
HP:0001903 | Anemia | Very frequent (99-80%) |
HP:0002486 | Myotonia | Very frequent (99-80%) |
HP:0009051 | Increased muscle glycogen content | Very frequent (99-80%) |
HP:0001324 | Muscle weakness | Frequent (79-30%) |
HP:0002149 | Hyperuricemia | Frequent (79-30%) |
HP:0003202 | Skeletal muscle atrophy | Frequent (79-30%) |
Total: 4
HPO ID | Term | # of case reports |
---|---|---|
HP:0003198 | Myopathy | 7 |
HP:0001638 | Cardiomyopathy | 1 |
HP:0001989 | Fetal akinesia sequence | 1 |
HP:0008200 | Primary hyperparathyroidism | 1 |