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1,519 Possible Causes for Autosomal Dominant, Blood in Stool

  • Colonic Polyp

    Colonoscopy was performed due to her complain of repeated blood in stools and subsequently the patient was misdiagnosed as a sigmoid colon polyp.[ncbi.nlm.nih.gov] It may be solitary or multiple; the latter has been suggested to exhibit autosomal dominant inheritance and association with colonic polyposis.[ncbi.nlm.nih.gov] Within all the people who go to their doctor with colonic polyp, 42% report having rectal bleeding, 35% report having blood in stool, and 31% report having constipation.[symcat.com]

  • Familial Adenomatous Polyposis

    It is important to note that presence of blood in stool does not mean that the individual has colon cancer because blood may also be present in stool as a result of many non-cancer[dovemed.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] Familial adenomatous polyposis is a rare autosomal dominant intestinal syndrome with a high rate of malignant transformation.[ncbi.nlm.nih.gov]

  • Juvenile Polyp

    The presence of blood in stool does not mean that an individual has cancer; blood in stool, can occur due to non-cancerous causes as well Double contrast barium enema to determine[dovemed.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] Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of[ncbi.nlm.nih.gov]

  • Porphyria

    Diagnosis is by measurement of excess porphyrins in urine, blood and stool. Management includes avoidance of exposure to sunlight. Barrier creams may be helpful.[patient.info] It is inherited in an autosomal dominant pattern.[genome.gov] High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria.[web.archive.org]

  • Lynch Syndrome

    […] in stools.[news-medical.net] Summary Currarino syndrome is a rare autosomal dominant disorder and the human homeobox gene, HLXB9, is the major causative locus.[jmg.bmj.com] Macmillan Cancer Support urged people to be particularly aware of symptoms including - Blood in stools - Diarrhoea or constipation - Unexplained weight loss - Pain in the[express.co.uk]

  • Intestinal Polyp

    In the event of minor blood loss (bleeding polyp), a fecal occult blood test may confirm a the presence of blood in the stool.[healthhype.com] The most common symptom of polyps is blood in the stool for several weeks or months.[rileychildrens.org] All of these disorders are inherited in what is called an autosomal dominant pattern.[medical-dictionary.thefreedictionary.com]

  • Gardner Syndrome

    Author12 Posts Oct 13, 2009 - 8:00 PM #1 A 34 y.o caucasian man presents complaining of blood in his stool for the last 2 weeks.[prep4usmle.com] 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] Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well[ncbi.nlm.nih.gov]

  • Hereditary Hemorrhagic Telangiectasia

    These AVMs can weaken and rupture, causing bleeding into the lung (coughing up blood), gastrointestinal tract (vomiting blood, or blood in stool) and into the head (causing[sickkids.ca] BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern.[ncbi.nlm.nih.gov] Gastrointestinal bleeding (blood in stool) may also develop, but is usually a later manifestation of the disease.[texaschildrens.org]

  • Juvenile Polyposis Syndrome

    The presence of blood in stool does not mean that an individual has cancer; blood in stool, can occur due to non-cancerous causes as well Double contrast barium enema to determine[dovemed.com] OBJECTIVE: Juvenile polyposis syndrome is a rare autosomal dominant disorder with incomplete penetrance.[ncbi.nlm.nih.gov] Juvenile polyposis syndrome (JPS) is a rare, autosomal dominant condition.[ncbi.nlm.nih.gov]

  • Rectal Polyp

    […] if you have a large polyp Blood on your toilet tissue or blood-streaked stools may be an indication of rectal bleeding and should be evaluated by a doctor.[healthline.com] Abstract Peutz-Jeghers Syndrome (PJS) is an autosomal dominant intestinal polyposis syndrome characterised by the presence of hamartomatous polyps and mucocutaneous pigmentation[ncbi.nlm.nih.gov] Warthin in 1885 at the University of Michigan. [6] It was later further studied by Henry Lynch who recognized an autosomal dominant transmission pattern with those affected[en.wikipedia.org]

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