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6 results
  1. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Search term GeneReviews Advanced Search Help < Prev Next > Nephronophthisis-Related Ciliopathies Synonym: NPHP-RC Marijn Stokman , MD, ... and their family members. 1. Clinical Characteristics of Nephronophthisis-Related Ciliopathies Nephronophthisis (NPH) is characterized by polyuria ...
  2. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... for polydactyly and symptomatic ptosis and/or strabismus. Nephronophthisis, end-stage kidney disease, liver failure and/or ... 2012 ] 21. May be higher in individuals with nephronophthisis 22. Homozygous deletions have been associated with rare ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and ... eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence ...
  4. Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1356
    ... NPHP1 NPHP3 NPHP4 TMEM67 (19 genes 1 ) Isolated nephronophthisis AR TKD, often seen in childhood; may be ... represent the most common genetic causes of isolated nephronophthisis. Other genes known to be associated with nephronophthisis ...
  5. Autosomal Dominant Tubulointerstitial Kidney Disease – REN - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK53700
    ... NPHP1 NPHP3 NPHP4 TMEM67 (19 genes 1 ) Isolated nephronophthisis (NPH) AR Tubulointerstitial kidney disease; often seen in ... represent the most common genetic causes of isolated nephronophthisis. Other genes known to be associated with nephronophthisis ...
  6. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... Nonsyndromic Retinitis Pigmentosa Overview Leber congenital amaurosis AR Nephronophthisis w/subsequent ESKD can be seen w/ IFT140 - ... maintenance of serum bicarbonate at ≥22 mEq/L Prevention of hyperphosphatemia by maintaining moderate dietary phosphorus intake ( ...