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635 Possible Causes for Meconium Ileus, Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Cystic Fibrosis

    Fewer have meconium ileus, but more have distal intestinal obstruction syndrome.[ncbi.nlm.nih.gov] This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] […] abnormal meconium in meconium ileus.[emedicine.medscape.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Ileus

    What is meconium ileus?[seattlechildrens.org] Meconium ileus: Blockage of intestine due to abnormally thick meconium at the point where small bowel transitions to large bowel.[eapsa.org] What are the symptoms of Meconium Ileus?[uhs.nhs.uk]

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

    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] […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Abstract Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years.[revistanefrologia.com]

    Missing: Meconium Ileus
  • Intestinal Obstruction

    BACKGROUND/PURPOSE: In the few studies on intestinal complications and growth of cystic fibrosis (CF) patients with a history of meconium ileus (MI), operated MI has not been[ncbi.nlm.nih.gov] Children with meconium ileus had a higher rate of surgery for DIOS (15% vs. 2%, p 0.02).[ncbi.nlm.nih.gov] Meconium ileus: This disorder is differentiated from meconium plug syndrome by location of the stool.[pedclerk.bsd.uchicago.edu]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Recurrent Small Bowel Obstruction

    ileus ( E84.11 ) ischemic stricture of intestine ( K55.1 ) meconium ileus NOS ( P76.0 ) neonatal intestinal obstructions classifiable to P76.- obstruction of duodenum ( K31.5[icd10data.com] Gastrografin in acute meconium ileus equivalent. Arch Dis Child 1986; 61:1128-1130. [PubMed] Penketh AR, Wise A, Mearns MB, et al.[cfmedicine.com] […] rare complication of recurrent cholecystitis biliary-intestinal fistula with impaction of a gallstone in the small bowel meconium ileus (or meconium ileus equivalent, distal[radiopaedia.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Autosomal Dominant Myoglobinuria

    ileus (caused by thick, mucoid meconium), respiratory bronchiectasis, Pseudomonas pneumonia, pancreatic insufficiency, hypertonic (high Cl - concentration) sweat.[kumc.edu] In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] […] in the HNF4A gene ( OMIM ) on chromosome 20q13.[mendelian.co]

  • Paralytic Ileus

    ileus ( E84.11 ) ischemic stricture of intestine ( K55.1 ) meconium ileus NOS ( P76.0 ) neonatal intestinal obstructions classifiable to P76.- obstruction of duodenum ( K31.5[icd10data.com] , such as hernia, adhesions, or volvulus; see ileus. meconium ileus ileus in the newborn due to intestinal obstruction by thick meconium. spastic ileus that due to persistent[medical-dictionary.thefreedictionary.com] […] obstruction without hernia 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes congenital stricture or stenosis of intestine ( Q41 - Q42 ) cystic fibrosis with meconium[icd10data.com]

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

    ileus, Intestinal atresia Bilirubin undersecretion: Conjugation defect or delay: Criggler-Najar syndrome, Gilbert syndrome, Hypothyroidism, Prematurity, UDGP-T variant Increased[epomedicine.com] ., Antignac, C. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.[scindeks.ceon.rs] ( magnesium sulfate or morphine ) Fasting or other cause for hypoperistalsis Hirschsprung disease Intestinal atresia or stenosis, including annular pancreas Meconium ileus[merckmanuals.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Partial Intestinal Obstruction

    ileus ( E84.11 ) ischemic stricture of intestine ( K55.1 ) meconium ileus NOS ( P76.0 ) neonatal intestinal obstructions classifiable to P76.- obstruction of duodenum ( K31.5[icd10data.com] […] rare complication of recurrent cholecystitis biliary-intestinal fistula with impaction of a gallstone in the small bowel meconium ileus (or meconium ileus equivalent, distal[radiopaedia.org] Meconium ileus is a disorder that occurs in newborns in which the meconium, the neonate's first fecal excretion after birth, is abnormally thick and stringy, rather than the[healthofchildren.com]

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

    Segmental volvulus takes place in patients of any age, usually with a predisposition because of abnormal intestinal contents (e.g. meconium ileus ) or adhesions.[shortbowelfoundation.org] ileus ( E84.11 ) ischemic stricture of intestine ( K55.1 ) meconium ileus NOS ( P76.0 ) neonatal intestinal obstructions classifiable to P76.- obstruction of duodenum ( K31.5[icd10data.com] Segmental volvulus occurs in patients of any age, usually with a predisposition because of abnormal intestinal contents (e.g. meconium ileus ) or adhesions.[shortbowelfoundation.org]

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

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