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944 Possible Causes for Mutations in the Cystinosis Gene, Proctitis, 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
  • Cystitis

    Chlamydia trachomatis is the organism most commonly identified; in addition to cystitis, it can cause the following disorders: Urethritis Cervicitis Pelvic inflammatory disease Proctitis[emedicine.medscape.com]

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

    Other symptoms and signs include nausea or vomiting, urinary symptoms, proctitis and an adnexal mass.[patient.info]

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

    Chronic proctitis, possibly secondary to ischemia, has been reported in three cases [ 27, 63, 64 ].[doi.org] A rigid or flexible sigmoidoscopy may rule out the presence of rectosigmoid neoplasia, proctitis, or IBD.[ncbi.nlm.nih.gov] Arroyo A, Perez-Vicente F, Serrano P, Candela F, Perez Vazquez MT, Calpena R (2006) Proctitis complicating stapled hemorrhoidectomy: report of a case.[doi.org]

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

    Rectal inflammation (proctitis). Genital herpes can lead to inflammation of the lining of the rectum, particularly in men who have sex with men.[mayoclinic.org]

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

    […] similar test positivity for rectal gonorrhea among men who reported contact with gonorrhea (24.9% vs 25.3%, PR 1.0, 95% CI 0.8-1.4) and men who presented with symptoms of proctitis[ncbi.nlm.nih.gov] Gonorrhea also can cause gonococcal proctitis (inflammation of the anus and rectum).[health.harvard.edu] Many people with gonococcal proctitis don't have any symptoms.[drugs.com]

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

    […] 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] 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: Proctitis
  • Colitis

    ) proctitis with intestinal obstruction K51.213 Ulcerative (chronic) proctitis with fistula K51.214 Ulcerative (chronic) proctitis with abscess K51.218 Ulcerative (chronic[icd10data.com] In this situation, laxatives to clear any constipation may help to ease a flare-up of proctitis.[patient.info] K51.20 …… without complications K51.21 Ulcerative (chronic) proctitis with complications K51.211 Ulcerative (chronic) proctitis with rectal bleeding K51.212 Ulcerative (chronic[icd10data.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Herpes Simplex Virus Type 2

    Herpes simplex virus type 2 (HSV-2) is the less common type of Herpes simplex virus. More than 400 million people around the world are infected with HSV-2, with the majority of them being unaware of their carrier status because infections tend to be asymptomatic. Patients who do develop symptoms typically suffer[…][symptoma.com]

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

    We experienced a case of an EMP in the rectum of a 55-year-old man with an 8-year history of proctitis-type ulcerative colitis (UC).[ncbi.nlm.nih.gov] Disease limited to the rectum (proctitis) may present with constipation and rectal bleeding.[patient.info] Both patients had a chronic history of proctitis-type UC and were taking no immunosuppressive agents that could cause Epstein-Barr virus-associated plasmacytoma, such as thiopurines[ncbi.nlm.nih.gov]

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