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Results 1 - 10 of 15 for Hirschsprung disease 1
  1. RET gene 
    ... oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease) RET-ELE1 RET/PTC RET51 RET_HUMAN Tests of RET PubMed RET PROTOONCOGENE; RET THYROID CANCER, NONMEDULLARY, 1; NMTC1 NCBI Gene ClinVar Alberti L, Carniti C, ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  2. Hirschsprung disease 
    ... megacolon Hirschsprung's disease HSCR Genetic Testing Registry: Hirschsprung disease, susceptibility to, 1 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 2 ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  3. EDN3 gene 
    ... of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med. 2010 Jan;12(1):39-43. doi: 10.1097/GIM.0b013e3181c371b0. Citation ... the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res. 1999 May;45(5 Pt 1):714-7. doi: 10.1203/00006450-199905010-00018. ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  4. EDNRB gene 
    ... of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med. 2010 Jan;12(1):39-43. doi: 10.1097/GIM.0b013e3181c371b0. Citation ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  5. Congenital central hypoventilation syndrome 
    ... about congenital central hypoventilation syndrome in patients with Hirschsprung disease. Ital J Pediatr. 2019 Apr 18;45(1):49. doi: 10.1186/s13052-019-0636-8. ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  6. 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 ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  7. ZEB2 gene 
    ... why many people with this condition also have Hirschsprung disease, an intestinal disorder that ... KIAA0569 SIP-1 SIP1 Smad interacting-protein 1 Smad-interacting protein ...
    https://medlineplus.gov/genetics/gene/zeb2 - Genetics
  8. Emanuel syndrome 
    ... the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's ... breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) ...
    https://medlineplus.gov/genetics/condition/emanuel-syndrome - Genetics
  9. Cartilage-hair hypoplasia 
    ... other grains (celiac disease). Affected individuals may have Hirschsprung disease, an ... Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - 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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