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218 Possible Causes for Inspissated Bile Syndrome, Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Cystic Fibrosis

    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] , 17 late infantile neuronal ceroid lipofuscinosis, 18 and disorders involving the p53 gene. 19 In a previous open pilot study, we found that topical application of gentamicin[doi.org]

    Missing: 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: Inspissated Bile Syndrome
  • Neonatal Jaundice

    bile syndrome P59.2 Neonatal jaundice from other and unspecified hepatocellular damage P59.20 Neonatal jaundice from unspecified hepatocellular damage P59.29 Neonatal jaundice[icd10data.com] ., Antignac, C. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.[scindeks.ceon.rs] bile) Dubin-Johnson syndrome and Rotor syndrome* Parenteral nutrition Tumor or band* (extrinsic obstruction) Undersecretion due to metabolic-endocrine conditions Crigler-Najjar[merckmanuals.com]

    Missing: 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: Inspissated Bile Syndrome Subsarcolemmal Accumulation of Normal Mitochondria
  • Cholestatic Jaundice

    Surgical causes of jaundice in neonates are biliary atresia, inspissated bile syndrome, intrahepatic hypoplasia, choledochal cyst, Caroli's disease and spontaneous perforation[ncbi.nlm.nih.gov] Malignant degeneration has also beenreported.[ 62 ] Inspissated bile plug There is mechanical obstruction of the extrahepatic bile ductsby inspissated bile.[ 63 ] Inspissated[tropicalgastro.com] Obstructive jaundice results from an interruption in the drainage of bile in the biliary system.[ncbi.nlm.nih.gov]

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

    There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet. 18, 319–324 (1998). 21 Verheijen, F. W. et al.[doi.org] Mitochondria appeared to be of normal density with no demonstrable abnormal cristae pattern or intramitochondrial inclusions.[circ.ahajournals.org]

    Missing: Inspissated Bile Syndrome
  • Polycythemia Neonatorum

    - see also Disease hypertransfusion, newborn P61.1 ICD-10-CM Codes Adjacent To P61.1 P59.1 Inspissated bile syndrome P59.2 Neonatal jaundice from other and unspecified hepatocellular[icd10data.com] bile syndrome 774.5 Perinatal jaundice from other causes Code first underlying cause, as: congenital obstruction of bile duct (751.61) galactosemia (271.1) mucoviscidosis[theodora.com] bile syndrome 膽汁濃縮症候群 P592 Neonatal jaundice form other and unspecifieed hepatocellular damage 其他和未特定肝細胞損害所致之新生兒黃疸 P5920 Neonatal jaundice from unspecified hepatocellular[csh.org.tw]

    Missing: Mutations in the Cystinosis Gene 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: Inspissated Bile Syndrome Subsarcolemmal Accumulation of Normal Mitochondria
  • Foreign Body in the Eye

    bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13[malacards.org] […] manifestations. 38 4 Wang H...Wang D 25381944 2015 35 Citrin deficiency: A treatable cause of acute psychosis in adults. 38 4 Bijarnia-Mahay S...Verma IC 25947987 2015 36 Inspissated[malacards.org]

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

    In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] […] in the HNF4A gene ( OMIM ) on chromosome 20q13.[mendelian.co] Reduced COX staining can be seen in both ragged red and otherwise normal-appearing muscle fibers.[neupsykey.com]

    Missing: Inspissated Bile Syndrome