Create issue ticket

1,197 Possible Causes for Mutations in the Cystinosis Gene, Phosphate Decreased, Subsarcolemmal Accumulation of Normal Mitochondria

  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] mutations of the cystinosis gene ( CTNS ).[emedicine.medscape.com] Cystinosis is an autosomal recessive lysosomal transport disorder caused by mutations in the CTNS gene. Both SERPINF1 and CTNS are located on chromosome 17p13.3.[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Nephropathic Cystinosis

    OBJECTIVE: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients.[ncbi.nlm.nih.gov] (CTNS) gene.[ncbi.nlm.nih.gov] Onofrio, 4, 00165, Rome, Italy. taranta@opbg.net Abstract Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Juvenile Cystinosis

    We also administered oral phosphate and potassium citrate/sodium citrate hydrate for treatment of hypophosphatemia and acidosis.[link.springer.com] […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org]

  • Acute Alcohol Intoxication

    The loss of electrolytes such as phosphate, potassium and magnesium can result in cardiac dysrhythmia.[emsworld.com] Acute alcohol ingestion can result in a decreased cardiac output in nonalcoholic patients with preexisting cardiac disease. This may be clinically significant.[emsworld.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Acquired Fanconi Syndrome

    […] expression of apical tubular transporters including sodium glucose co-transporter, sodium phosphate co-transporter, uric acid transporter 1, and a decrease of Na( )/K( )-[ncbi.nlm.nih.gov] The phenotype severity in cystinosis appears to vary with the mutations in the CTNS gene.[emedicine.medscape.com] In addition, they had the generalized dysfunction of the renal proximal tubules presenting decreased tubular reabsorption of phosphate (%TRP), increased fractional excretion[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Hyperventilation

    Hyperventilation occurs when the rate or tidal volume of breathing eliminates more carbon dioxide than the body can produce. This leads to hypocapnia, a reduced concentration of carbon dioxide dissolved in the blood. The body normally attempts to compensate for this homeostatically but if this fails or is[…][en.wikipedia.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Malnutrition

    Malnutrition is a condition that results from eating a diet in which one or more nutrients are either not enough or are too much such that the diet causes health problems. It may involve calories, protein, carbohydrates, vitamins or minerals. Not enough nutrients is called undernutrition or undernourishment while too[…][en.wikipedia.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Asthma

    […] serum levels of potassium, magnesium, and phosphate.[ncbi.nlm.nih.gov] GAPDH, glyceraldehyde 3-phosphate dehydrogenase; PPARγ, peroxisome proliferator-activated receptor gamma.[ncbi.nlm.nih.gov] […] prudent to measure electrolytes in patients who have been taking diuretics regularly and in patients with cardiovascular disease because excessive use of β 2 -agonists may decrease[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Gout

    Over 80 % are pure uric acid stones, the rest are mixed calcium oxalate stones or calcium phosphate stones.[lecturio.com] Stones form due to increased uric acid excretion, acidic urine and substances decreasing uric acid solubility.[lecturio.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Third Trimester Pregnancy

    The concomitant phenomenon of a third trimester pregnancy with a significant degree of pelvic organ prolapse is extremely rare. We report on a patient with pelvic organ prolapse complicating third trimester pregnancy treated by concomitant cesarean hysterectomy and abdominal sacrocolpopexy. A 30-year-old woman,[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria

Similar symptoms