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Results 1 - 9 of 9 for Bartter syndrome type 4
  1. Bartter syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 BARTTER SYNDROME, TYPE 4A, NEONATAL, ...
    https://medlineplus.gov/genetics/condition/bartter-syndrome - Genetics
  2. CLCNKB gene 
    ... CLCNKB gene have been identified in people with Bartter syndrome type III. This form of the condition, which is ... Bartter syndrome.Many of the mutations responsible for Bartter syndrome type III delete the entire CLCNKB gene. Other mutations ...
    https://medlineplus.gov/genetics/gene/clcnkb - Genetics
  3. BSND gene 
    ... BSND gene have been identified in people with Bartter syndrome type IV. This form of the disorder causes severe ... abnormalities in the inner ear, which is why Bartter syndrome type IV is also known as antenatal Bartter syndrome ...
    https://medlineplus.gov/genetics/gene/bsnd - Genetics
  4. CLCNKA gene 
    ... a life-threatening form of the disorder called Bartter syndrome type IV. This condition is also known as antenatal ... is responsible for the hearing loss characteristic of Bartter syndrome type IV. More About This Health Condition Studies suggest ...
    https://medlineplus.gov/genetics/gene/clcnka - Genetics
  5. SLC12A1 gene 
    ... SLC12A1 gene have been identified in people with Bartter syndrome type I. This form of the disorder is very ... human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am ...
    https://medlineplus.gov/genetics/gene/slc12a1 - Genetics
  6. KCNJ1 gene 
    ... KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes severe or life-threatening health problems that become apparent before or soon ... for Bartter syndrome change single protein building blocks (amino acids) ...
    https://medlineplus.gov/genetics/gene/kcnj1 - Genetics
  7. Rabson-Mendenhall syndrome 
    ... course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 Jul;83(4):209-222. doi: 10.1097/01.md.0000133625. ...
    https://medlineplus.gov/.../condition/rabson-mendenhall-syndrome - Genetics
  8. Donohue syndrome 
    ... course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 Jul;83(4):209-222. doi: 10.1097/01.md.0000133625. ...
    https://medlineplus.gov/genetics/condition/donohue-syndrome - Genetics
  9. INSR gene 
    ... associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? Acta Diabetol. 2013 Dec;50(6):951-7. doi: 10.1007/s00592-013-0490-x. Epub 2013 Jul 4. Citation on PubMed Hubbard SR. The insulin receptor: ...
    https://medlineplus.gov/genetics/gene/insr - Genetics