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Familial focal segmental glomerulosclerosis with PLCE1 mutation in siblings. 2019

Masaki Shimizu, and Hitoshi Irabu, and Hisashi Kaneda, and Kazuhide Ohta, and Kandai Nozu
Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Ishikawa, Japan.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007564 Japan A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo. Bonin Islands
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D005260 Female Females
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D005923 Glomerulosclerosis, Focal Segmental A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. Glomerulonephritis, Focal Sclerosing,Hyalinosis, Segmental Glomerular,Focal Segmental Glomerulosclerosis,Glomerulosclerosis, Focal,Hyalinosis, Segmental,Segmental Glomerular Hyalinosis,Focal Glomerulosclerosis,Focal Sclerosing Glomerulonephritides,Focal Sclerosing Glomerulonephritis,Glomerular Hyalinosis, Segmental,Glomerulonephritides, Focal Sclerosing,Sclerosing Glomerulonephritides, Focal,Sclerosing Glomerulonephritis, Focal,Segmental Glomerulosclerosis, Focal,Segmental Hyalinosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D054801 Phosphoinositide Phospholipase C A type C phospholipase with specificity towards PHOSPHATIDYLINOSITOLS that contain INOSITOL 1,4,5-TRISPHOSPHATE. Many of the enzymes listed under this classification are involved in intracellular signaling. 1-Phosphatidyl-D-myo-Inositol-4,5-bisphosphate Inositoltrisphosphohydrolase,1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase,PIP2-PLC,PIP2-Phosphoinositidase C,PPI Phosphodiesterase,Phosphatidylinositide-4,5-Bisphosphate Phospholipase C,Phosphatidylinositol-4,5-Biphosphate-Phosphodiesterase,Phosphatidylinositol-Specific Phospholipase C,Phosphoinositide Selective Phospholipase C,Phosphoinositol Specific Phospholipase C,Polyphosphoinositide Phosphodiesterase,Polyphosphoinositide Phospholipase C,PtdIns(4,5)P2 Phosphodiesterase,Tri-phosphoinositide Phosphodiesterase,Triphosphoinositide Phosphodiesterase,1 Phosphatidyl D myo Inositol 4,5 bisphosphate Inositoltrisphosphohydrolase,1 Phosphatidylinositol 4,5 Bisphosphate Phosphodiesterase,Inositoltrisphosphohydrolase, 1-Phosphatidyl-D-myo-Inositol-4,5-bisphosphate,PIP2 Phosphoinositidase C,Phosphatidylinositide 4,5 Bisphosphate Phospholipase C,Phosphatidylinositol 4,5 Biphosphate Phosphodiesterase,Phosphatidylinositol Specific Phospholipase C,Phosphodiesterase, 1-Phosphatidylinositol-4,5-Bisphosphate,Phosphodiesterase, PPI,Phosphodiesterase, Polyphosphoinositide,Phosphodiesterase, Triphosphoinositide,Phospholipase C, Phosphatidylinositide-4,5-Bisphosphate,Phospholipase C, Phosphatidylinositol-Specific,Phospholipase C, Polyphosphoinositide,Tri phosphoinositide Phosphodiesterase
D035781 Siblings Persons or animals having at least one parent in common. (American College Dictionary, 3d ed) Brothers,Sisters,Brother,Sibling,Sister

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