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Results 1 - 10 of 13 for "Bardet-Biedl" syndrome 1
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  1. BBS1 gene 
    The BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a group (complex) of proteins that ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  2. Bardet-Biedl syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov BARDET-BIEDL SYNDROME 1; BBS1 PubMed Ansley SJ, Badano JL, Blacque OE, ... on PubMed Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10. ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  3. MKKS gene 
    ... obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):67-70. doi: 10.1038/79201. Citation on ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. Setmelanotide Injection 
    ... including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency (inherited conditions that cause severe obesity) or Bardet-Biedl syndrome (BBS; an inherited condition that can cause severe ...
    https://medlineplus.gov/druginfo/meds/a622059.html - Drugs and Supplements
  5. NPHP1 gene 
    ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  6. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  7. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  8. Patient support and advocacy groups 
    ... Foundation of America APS Support UK APS Type 1 Foundation ARPKD/CHF ... Syndrome Family Association Barth Syndrome Foundation Batten Disease Family ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  9. McKusick-Kaufman syndrome 
    ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  10. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
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