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520 Possible Causes for Autosomal Dominant, Colonic Polyp, 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] Colonic polyps may be benign or have malignant potential.[amboss.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]

  • Gardner Syndrome

    Affiliation: Discipline of Pediatric Otorhinolaryngology, Department of Otorhinolaryngology and Human Communication Disorders, EPM – UNIFESP[scielo.br] Early diagnosis may prevent malignant transformation of colonic polyps.[ncbi.nlm.nih.gov] 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]

  • 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] Definition / general Most common type of intestinal polyp in children ( 90% of childhood colon polyps, Clin Colon Rectal Surg 2008;21:280 ) "Juvenile polyp" was first used[pathologyoutlines.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]

  • 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] Using CEUS in a patient with Peutz-Jeghers syndrome, we describe for the first time the vascularization of a hamartomatous colonic polyp that exhibits a hierarchy branching[ncbi.nlm.nih.gov] 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]

  • Blue Rubber Bleb Nevus Syndrome

    Phone: 617-636-5025 Fax #: 617-636-8122 Pediatric surgery, pediatric trauma, congenital disorders requiring surgery in newborns, GI inflammatory diseases in children, pediatric[floatinghospital.org] Colonoscopy detected the presence of vascular polyps in her sigmoid colon [Figure 8], which presumably led to the recurrent episodes of hematochezia.[e-ijd.org] "Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency[ncbi.nlm.nih.gov]

  • Juvenile Polyposis Syndrome

    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] Colonic polyps predominated; 535 of 767 (69.8%) of colonic polyps were right sided. One patient had a solitary significant small-bowel polyp.[ncbi.nlm.nih.gov] OBJECTIVE: Juvenile polyposis syndrome is a rare autosomal dominant disorder with incomplete penetrance.[ncbi.nlm.nih.gov]

  • Hereditary Mixed Polyposis Syndrome

    Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr . 1975 Jan. 86(1):84-8. [Medline] .[emedicine.medscape.com] Various inherited syndromes predispose to the development of colonic juvenile polyps and colorectal cancer, with potential importance for sporadic tumorigenesis.[ncbi.nlm.nih.gov] HMPS appears to be inherited in an autosomal dominant manner. Genetic linkage analysis has been performed on a large family with HMPS.[ncbi.nlm.nih.gov]

  • Anemia

    One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself.[childrenshospital.org] Conditions that may lead to anemia include Heavy periods Pregnancy Ulcers Colon polyps or colon cancer Inherited disorders A diet that does not have enough iron, folic acid[medlineplus.gov] ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[orpha.net]

  • Hereditary Hemorrhagic Telangiectasia

    The monoclonal antibody bevacizumab, seems to be a good option in this disorder.[ncbi.nlm.nih.gov] Multiple genes have been identified as having involvement in this disease, including a gene that also causes polyps in the colon or, potentially, colon cancer.[uchospitals.edu] BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern.[ncbi.nlm.nih.gov]

  • Multiple Hamartoma Syndrome

    disorder characterized by macrocephaly, developmental retardation and penile pigmented macules Among the many abnormalities, the following are of most relevance to surgical[surgpathcriteria.stanford.edu] A brother-sister kindred and two unrelated patients had multiple colonic polyps 0.1-0.4 cm in diameter.[ncbi.nlm.nih.gov] English: Cowden syndrome (also known as "Cowden's disease," and "Multiple hamartoma syndrome") is a rare autosomal dominant inherited disorder characterized by multiple tumor-like[commons.wikimedia.org]

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