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Results 1 - 9 of 9 for "Bartter's" syndrome
  1. Bartter syndrome 
    ... with hyperplasia of the adrenal cortex Bartter disease Bartter's syndrome Juxtaglomerular hyperplasia with secondary aldosteronism Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/bartter-syndrome - Genetics
  2. SLC12A1 gene 
    ... Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations ... human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J ...
    https://medlineplus.gov/genetics/gene/slc12a1 - Genetics
  3. Gitelman syndrome 
    ... Lifton RP, Simon DB; Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an ...
    https://medlineplus.gov/genetics/condition/gitelman-syndrome - Genetics
  4. CLCNKB gene 
    ... Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. 1997 Oct;17(2): ...
    https://medlineplus.gov/genetics/gene/clcnkb - Genetics
  5. KCNJ1 gene 
    ... H, Sanjad SA, Lifton RP. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. ...
    https://medlineplus.gov/genetics/gene/kcnj1 - Genetics
  6. SLC12A3 gene 
    ... Gitleman HJ, Lifton RP. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in ...
    https://medlineplus.gov/genetics/gene/slc12a3 - Genetics
  7. BSND gene 
    ... BSND gene have been identified in people with Bartter syndrome type IV. This form of the disorder causes ... abnormalities in the inner ear, which is why Bartter syndrome type IV is also known as antenatal Bartter ...
    https://medlineplus.gov/genetics/gene/bsnd - Genetics
  8. CLCNKA gene 
    ... a role in normal hearing. Several people with Bartter syndrome have had mutations in both the CLCNKA gene ... a life-threatening form of the disorder called Bartter syndrome type IV. This condition is also known as ...
    https://medlineplus.gov/genetics/gene/clcnka - Genetics
  9. Autosomal dominant hypocalcemia 
    ... individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include ... sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V.There are two ...
    https://medlineplus.gov/.../autosomal-dominant-hypocalcemia - Genetics