Biomaterial Database

Genetic disorders of renal electrolyte transport. 1999

S J Scheinman, and L M Guay-Woodford, and R V Thakker, and D G Warnock

Department of Medicine, State University of New York Health Science Center, Syracuse 13210, USA. scheinms@vax.cs.hscsyr.edu

UI	MeSH Term	Description	Entries
D007008	Hypokalemia	Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)	Hypopotassemia,Hypokalemias,Hypopotassemias
D007015	Hypophosphatemia, Familial	An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.	Diabetes, Phosphate,Familial Hypophosphatemia,Hyperphosphaturia,Phosphate Diabetes,Phosphaturia,Familial Hypophosphatemias,Hypophosphatemias, Familial
D007674	Kidney Diseases	Pathological processes of the KIDNEY or its component tissues.	Disease, Kidney,Diseases, Kidney,Kidney Disease
D007684	Kidney Tubules	Long convoluted tubules in the nephrons. They collect filtrate from blood passing through the KIDNEY GLOMERULUS and process this filtrate into URINE. Each renal tubule consists of a BOWMAN CAPSULE; PROXIMAL KIDNEY TUBULE; LOOP OF HENLE; DISTAL KIDNEY TUBULE; and KIDNEY COLLECTING DUCT leading to the central cavity of the kidney (KIDNEY PELVIS) that connects to the URETER.	Kidney Tubule,Tubule, Kidney,Tubules, Kidney
D008274	Magnesium	A metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION.
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
D011546	Pseudohypoaldosteronism	A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.	Gordon Hyperkalemia-Hypertension Syndrome,Hyperpotassemia and Hypertension, Familial,Hypertensive Hyperkalemia, Familial,Pseudohypoaldosteronism Type 1,Pseudohypoaldosteronism Type 1, Autosomal Recessive,Pseudohypoaldosteronism, Type I,Pseudohypoaldosteronism, Type I, Autosomal Dominant,Pseudohypoaldosteronism, Type I, Autosomal Recessive,Pseudohypoaldosteronism, Type II,Familial Hyperpotassemia and Hypertension,Familial Hypertensive Hyperkalemia,Pseudohypoaldosteronism Type 1, Autosomal Dominant,Pseudohypoaldosteronism Type 2,Pseudohypoaldosteronism Type I,Pseudohypoaldosteronism Type II,Familial Hypertensive Hyperkalemias,Gordon Hyperkalemia Hypertension Syndrome,Hyperkalemia, Familial Hypertensive,Hyperkalemia-Hypertension Syndrome, Gordon,Hyperkalemias, Familial Hypertensive,Hypertensive Hyperkalemias, Familial,Pseudohypoaldosteronism Type 1s,Pseudohypoaldosteronism Type 2s,Pseudohypoaldosteronism Type IIs,Pseudohypoaldosteronism Type Is,Pseudohypoaldosteronisms,Pseudohypoaldosteronisms, Type I,Pseudohypoaldosteronisms, Type II,Syndrome, Gordon Hyperkalemia-Hypertension,Type 1, Pseudohypoaldosteronism,Type I Pseudohypoaldosteronism,Type I, Pseudohypoaldosteronism,Type II Pseudohypoaldosteronism,Type II Pseudohypoaldosteronisms,Type II, Pseudohypoaldosteronism,Type IIs, Pseudohypoaldosteronism,Type Is, Pseudohypoaldosteronism
D002135	Calcium-Binding Proteins	Proteins to which calcium ions are bound. They can act as transport proteins, regulator proteins, or activator proteins. They typically contain EF HAND MOTIFS.	Calcium Binding Protein,Calcium-Binding Protein,Calcium Binding Proteins,Binding Protein, Calcium,Binding Proteins, Calcium,Protein, Calcium Binding,Protein, Calcium-Binding
D002352	Carrier Proteins	Proteins that bind or transport specific substances in the blood, within the cell, or across cell membranes.	Binding Proteins,Carrier Protein,Transport Protein,Transport Proteins,Binding Protein,Protein, Carrier,Proteins, Carrier
D004573	Electrolytes	Substances that dissociate into two or more ions, to some extent, in water. Solutions of electrolytes thus conduct an electric current and can be decomposed by it (ELECTROLYSIS). (Grant & Hackh's Chemical Dictionary, 5th ed)	Electrolyte