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Results 1 - 9 of 9 for Short bowel syndrome
  1. FOXP3 gene 
    ... autoimmune disorders in affected individuals, typically affecting the intestines, ... short, nonfunctional protein. Mutations in the FOXP3 gene impair ...
    https://medlineplus.gov/genetics/gene/foxp3 - Genetics
  2. MSH2 gene 
    ... endometrium (lining of the uterus), ovaries, stomach, small intestine, ... of an abnormally short or inactive MSH2 protein or prevent the production ...
    https://medlineplus.gov/genetics/gene/msh2 - Genetics
  3. MSH6 gene 
    ... endometrium (lining of the uterus), ovaries, stomach, small intestine, gallbladder ... short, nonfunctional MSH6 protein; a partially active version of ...
    https://medlineplus.gov/genetics/gene/msh6 - Genetics
  4. KCNQ1 gene 
    ... KCNQ1 gene can cause a heart condition called short QT syndrome. In people with this condition, the cardiac muscle ... sudden death.The KCNQ1 gene mutations associated with short QT syndrome change single amino acids in the KCNQ1 protein. ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  5. WDR35 gene 
    ... DJ. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  6. RECQL4 gene 
    ... ray malformations, malformed or missing kneecaps, diarrhea, and short stature. The condition was first identified in Finland, and the most common mutation in RAPADILINO syndrome is found in all affected individuals of Finnish ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  7. PMS2 gene 
    ... frequent cause of this condition. Individuals with CMMRD syndrome are at increased risk of developing cancers of the colon (large intestine) and rectum (collectively referred to as colorectal cancer), ...
    https://medlineplus.gov/genetics/gene/pms2 - Genetics
  8. L1CAM gene 
    ... the absence of nerves in parts of the intestine. It is unclear whether this set of features should be classified as part of the L1 syndrome group of disorders (described above) or as a ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  9. COL1A1 gene 
    ... type is associated with rupture of blood vessels, intestines, and other organs. One COL1A1 gene mutation that has been associated with both the classical and vascular types of Ehlers-Danlos syndrome replaces the amino acid arginine with the amino ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics