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  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. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... skin, hair, nails, & teeth Dental anomalies Dental eval Nephronophthisis Urinalysis (first AM void) (& optional 24-hour urine ... or oligodontia may limit aesthetic, functional, & psychological issues. Nephronophthisis Treatment per nephrologist Renal transplantation is an option ...
  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. 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 ...
  5. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... later develop other systemic issues, particularly kidney disease. Nephronophthisis with subsequent end-stage kidney disease can be ... abnormalities Characteristic MRI appearance incl "molar tooth sign" Nephronophthisis in later childhood Zellweger spectrum disorder 13 genes ...
  6. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... IQCB1 NPHP1 NPHP3 NPHP4 TMEM67 (≥19 genes) 6 Nephronophthisis AR Corticomedullary cysts; normal or small-sized kidneys ( ... type); urinary concentrating & sodium reabsorption defect; progressive CKD Nephronophthisis may be isolated or part of a syndrome, ...
  7. Autosomal Recessive Polycystic Kidney Disease – PKHD1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... NPH-related genes incl: NPHP2 NPHP3 TMEM67 12 Nephronophthisis-related ciliopathies AR 12 Infantile NPH: moderately enlarged ... of the young; MOI = mode of inheritance; NPH = nephronophthisis; PKD = polycystic kidney disease 1. Kääriäinen et al [ ...
  8. Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK153723
    ... kidney disease or the group of disorders termed " nephronophthisis " (see Table 2 ). Renal Imaging Renal imaging should ... NPHP1 NPHP3 NPHP4 TMEM67 (19 genes 1 ) Isolated nephronophthisis (NPH) AR Tubulointerstitial kidney disease; often seen in ...
  9. 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 ...
  10. 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 ...
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