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Results 1 - 10 of 14 for Hirschsprung disease 2
  1. Hirschsprung disease 
    ... Hirschsprung disease, susceptibility to, 1 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 2 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 3 ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  2. RET gene 
    ... very different from the inactivating mutations that cause Hirschsprung disease (described above); these two disorders rarely occur in the same individual. More ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  3. EDNRB gene 
    ... described below), EDNRB gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. People with a variant in one of the two copies of the EDNRB gene tend to develop ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  4. Waardenburg syndrome 
    ... signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  5. EDN3 gene 
    ... of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med. 2010 ... crest development. Nature. 1999 Dec 2;402(6761):496-501. doi: 10.1038/990040. ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  6. Congenital central hypoventilation syndrome 
    ... Schiavino A, Petreschi F, Novelli A, Cutrera R. Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease. Ital J Pediatr. 2019 Apr 18;45(1): ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  7. ZEB2 gene 
    ... why many people with this condition also have Hirschsprung disease, an intestinal disorder that causes severe constipation, ... PubMed ...
    https://medlineplus.gov/genetics/gene/zeb2 - Genetics
  8. SOX10 gene 
    ... PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; ... V. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007 Dec; ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  9. L1CAM gene 
    ... the brain and intestine, leading to hydrocephalus and Hirschsprung disease. ... MK. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Clin Genet. 2017 ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  10. Mowat-Wilson syndrome 
    ... intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.Children with Mowat-Wilson ... syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
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