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Results 1 - 10 of 13 for Hirschsprung disease 4
  1. Hirschsprung disease 
    ... 3 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 4 Hirschsprung disease National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  2. EDNRB gene 
    ... Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung ... tyrosine kinase RET. Neuron. 2003 Dec 4;40(5):905-16. doi: 10.1016/s0896- ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  3. SOX10 gene 
    ... PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH ... at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007 Dec;81(6): ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  4. RET gene 
    ... gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage ... absence leads to the intestinal problems characteristic of Hirschsprung disease. More About This Health Condition More than 25 ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  5. Congenital central hypoventilation syndrome 
    ... in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement ... researchers refer to the combination of CCHS and Hirschsprung disease as Haddad syndrome.) Some affected individuals develop learning ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  6. Bardet-Biedl syndrome 
    ... K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg.c.30231. ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  7. EDN3 gene 
    ... the EDN3 gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Although Hirschsprung disease is a feature of another disorder called Waardenburg ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  8. L1CAM gene 
    ... buildup of fluid in the brain (hydrocephalus) and Hirschsprung disease. Hirschsprung disease is an intestinal disorder characterized by the absence ... the brain and intestine, leading to hydrocephalus and Hirschsprung disease. antigen identified by monoclonal antibody R1 CAML1 CD171 ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  9. Waardenburg syndrome 
    ... in pigmentation. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  10. PHOX2B gene 
    ... in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement ... with PHOX2B gene mutations have both neuroblastoma and Hirschsprung disease. PHOX2B gene variations affect the autonomic nervous system ...
    https://medlineplus.gov/genetics/gene/phox2b - Genetics
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