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Results 1 - 10 of 19 for Congenital atresia of colon
  1. Congenital central hypoventilation syndrome 
    ... About 20 percent of people with CCHS have abnormalities in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon. (Some researchers refer to the combination of CCHS ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  2. PHOX2B gene 
    ... body temperature. Some people with CCHS also have abnormalities in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon.Most PHOX2B gene mutations that cause CCHS add ...
    https://medlineplus.gov/genetics/gene/phox2b - Genetics
  3. Juvenile polyposis syndrome 
    ... cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts ...
    https://medlineplus.gov/.../condition/juvenile-polyposis-syndrome - Genetics
  4. Lipoid proteinosis 
    ... process hearing, speech, memory, and emotion. The brain abnormalities and ... the duodenum, and the colon. The deposits in these tissues often do not ...
    https://medlineplus.gov/genetics/condition/lipoid-proteinosis - Genetics
  5. SMAD4 gene 
    ... and result in a tumor, often in the colon or pancreas. SMAD4 gene mutations have also been identified in a small number of individuals with juvenile polyposis and blood vessel abnormalities other than hereditary hemorrhagic telangiectasia (described above). These ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  6. Mowat-Wilson syndrome 
    ... severe constipation, intestinal blockage, and enlargement of the colon. Chronic ... and abnormalities of the urinary tract and genitalia. Less commonly, ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  7. TGFBR2 gene 
    ... particularly when TGFBR2 gene mutations occur in the colon, rectum, and esophagus. It is estimated that 30 percent of cancerous (malignant) colon tumors have TGFBR2 gene mutations in their cells. ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
  8. KMT2D gene 
    ... identified in cancerous tumors of the breast and colon. It is unknown whether these changes result primarily ... cell lines and tumors from human breast and colon. Cancer Cell Int. 2010 Apr 30;10:13. ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  9. Cartilage-hair hypoplasia 
    ... severe constipation, intestinal blockage, and enlargement of the colon. Narrowing of the anus (anal stenosis) or blockage ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  10. ITGB4 gene 
    ... tissues and organs, including the breast, lung, liver, colon, and skin.Changes in the location and activity ... S, Pfendner E, Uitto J. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene ( ...
    https://medlineplus.gov/genetics/gene/itgb4 - Genetics
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