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Results 1 - 10 of 11 for Bartter disease type 1
  1. Bartter syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 ...
    https://medlineplus.gov/genetics/condition/bartter-syndrome - Genetics
  2. BSND gene 
    ... Fahlke C. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. J Am Soc Nephrol. 2009 Jan;20(1):145-53. doi: 10.1681/ASN.2008010102. Epub ...
    https://medlineplus.gov/genetics/gene/bsnd - Genetics
  3. 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
  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. Autosomal dominant hypocalcemia 
    ... as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V.There are two types of autosomal dominant ... the CASR gene; these cases are known as type 1. A small percentage of cases, known as type ...
    https://medlineplus.gov/.../autosomal-dominant-hypocalcemia - Genetics
  7. KCNJ1 gene 
    ... KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes severe ... PubMed POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1 ... A, Seyberth HW. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem ...
    https://medlineplus.gov/genetics/gene/kcnj1 - Genetics
  8. Kidney Diseases (National Library of Medicine)  
    You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about ...
    https://medlineplus.gov/kidneydiseases.html - Health Topics
  9. Donohue syndrome 
    ... disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance ... is estimated to affect less than 1 per million people worldwide. Several dozen cases have ...
    https://medlineplus.gov/genetics/condition/donohue-syndrome - Genetics
  10. Rabson-Mendenhall syndrome 
    ... severe insulin resistance. Hum Mol Genet. 2002 Jun 1;11(12):1465-75. doi: 10.1093/hmg/11.12.1465. Citation on PubMed Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P. Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year ...
    https://medlineplus.gov/.../condition/rabson-mendenhall-syndrome - Genetics
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