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453 Possible Causes for Adenocarcinoma of the Colon, Autosomal Dominant, Pediatric Disorder

  • Familial Adenomatous Polyposis

    Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J.[emedicine.medscape.com] English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the[wikidata.org] The diagnosis was familial adenomatous polyposis (FAP) and adenocarcinoma of the sigmoid colon.[ncbi.nlm.nih.gov]

  • Gardner Syndrome

    Affiliation: Discipline of Pediatric Otorhinolaryngology, Department of Otorhinolaryngology and Human Communication Disorders, EPM – UNIFESP[scielo.br] Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps[ncbi.nlm.nih.gov] Colonoscopy reveals innumerable colonic polyps. A biopsy of one friable polyp confirms the diagnosis of adenocarcinoma of the colon.[prep4usmle.com]

  • Juvenile Polyp

    Wireless capsule endoscopy for oscure small-bowel disorders: Final results of the first pediatric controlled trial . Clin Gastroenterol Hepatol 2005; 3 :264–270. 21.[nature.com] An autosomal dominant condition usually associated with mutations in 2 genes – BMPRIA (bone morphogenic protein receptor, type 1A) and SMAD4 (mothers against decapentaplegic[ajol.info] Oosting M: Adenocarcinoma of the sigmoid colon, rectum and anus in children: report of 2 cases in 13-year-old girl and 8-year-old boy with summary of recorded cases up to[link.springer.com]

  • Peutz-Jeghers Syndrome

    […] risks separately, with the latter disorders discussed in the article by Tabori and colleagues in this CCR Pediatric Oncology Series ( 1 ).[dx.doi.org] From Wikidata Jump to navigation Jump to search autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal[wikidata.org] […] of colon.[ncbi.nlm.nih.gov]

  • Von Hippel-Lindau Disease

    Praticò and Agata Polizzi, Neurocutaneous Disorders, Textbook of Pediatric Neurosurgery, 10.1007/978-3-319-31512-6_42-1, (1-49), (2018).[doi.org] VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors, including retinal and central nervous system hemangioblastomas, renal cell[ncbi.nlm.nih.gov] We herein describe the case of a 64-year-old man carrying the VHL gene mutation affected by simultaneous colon adenocarcinoma, renal clear cell carcinoma and adrenal pheochromocytoma[ncbi.nlm.nih.gov]

  • Dyskeratosis Congenita

    The lifetime occurrence of any of these disorders in our study was 83% in pediatric subjects and 88% in adults.[ncbi.nlm.nih.gov] PURPOSE: To report a case of autosomal dominant dyskeratosis congenita (AD-DC) complicated by bilateral retinal vasculopathy and proliferative retinopathy with vitreous hemorrhage[ncbi.nlm.nih.gov] Two reports were of colon cancer (one adenocarcinoma, one not specified), 2 pancreatic adenomas, and one each liver adenomas (no mention regarding androgen treatment), retinoblastoma[bloodjournal.org]

  • Howell-Evans Syndrome

    Curr Opin Pediatr 2002; 14: 419-25 Smith F. The molecular genetics of keratin disorders. Am J Clin Dermatol 2003; 4: 347-64 Virtanen M, Smith SK, Gedde-Dahl T Jr, et al.[books.google.de] This very rare syndrome is inherited in an autosomal dominant fashion.[visualdx.com] […] polyposis (mainly in small intestine) Adenocarcinoma of stomach, duodenum, and colon in 2%-3% of cases 3- Palmoplantar keratoderma (Howel-Evans syndrome) Autosomal dominant[stmina-monastery.org]

  • Familial Hypophosphatemia

    Genetic disorders of phosphate regulation. Pediatr Nephrol. 2012;27(9):1477-87. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.[rarediseases.org] The ICD code E8331 is used to code Autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive[icd.codes] Leaf DE, Pereira RC, Bazari H, et al ; Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma.[patient.info]

  • Sneddon's Syndrome

    MS and other acquired demyelinating disorders of the central nervous system.[yoran.office.ehime-u.ac.jp] A small subset of families might have multiple affected members following autosomal dominant inheritance pattern.[ashg.org] […] of the corium Urticaria pigmentosa Histiocytosis X Metastatic infiltration of the dermis Paget's carcinoma of the breast Extramammary Paget's disease Epidermal spread of colonic[atlases.muni.cz]

  • Bernard-Soulier Syndrome

    Abstract Bernard-Soulier syndrome is a rare (1:1million), hereditary bleeding disorder caused by defects of the platelet GPIb-IX-V complex.[ncbi.nlm.nih.gov] Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed analyses of seven family members.[ncbi.nlm.nih.gov] Cluster analysis ... 437 Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in ...[biomedsearch.com]

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