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24 results
  1. 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 ...
  2. 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 ...
  3. Genetic Steroid-Resistant Nephrotic Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573219
    ... adult OMIM 603965 TTC21B AR <1% Childhood & adult Nephronophthisis WT1 3 AD 10%-20% CNS or childhood & ... cherry-red spots, & DD/ID. NPHP4 AR Isolated nephronophthisis (NPH) ~80%-90% of persons w/NPH phenotype ...
  4. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... hydronephrosis, & urogenital abnormalities. ( CEP164 is also assoc w/ nephronophthisis. ) CLUAP1 CLUAP1 -related JS-OFD 2 AR Epiglottis ... TMEM216- related OFD 4 / JS-OFD AR Polydactyly, nephronophthisis, & cystic kidneys. Brain MRI shows MTS. TMEM231 TMEM231- ...
  5. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Bedouin ... 
    https://www.ncbi.nlm.nih.gov/books/NBK583118
    ... 002176 ​.2 Lev et al [2019] INVS Infantile nephronophthisis AR c.2719C>T p.Arg907Ter ~100% 2 ... R. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int. 2009; 75 :839–47. [ PubMed : 19177160 ] ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nephronophthisis</url><title >Nephronophthisis</title><other_names ><other_name > ...
  7. 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 - ... posted live 22 August 2001 (ph) Original submission References Published Guidelines / Consensus Statements Chapman AB, Devuyst O, ...
  8. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... encompasses Senior-Løken syndrome (retinopathy and juvenile-onset nephronophthisis) and Dekaban-Arima syndrome (retinopathy and cystic dysplastic ... posted live November 1997 (bp, sd) Original submission References Literature Cited Aleman TS, Duncan JL, Bieber ML, ...
  9. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... reverse phenotyping revealed features of BBS 11 Isolated nephronophthisis CEP290 (BBS14) 6.3% Significant clinical overlap w/ ... posted live 22 January 2003 (pb) Original submission References Literature Cited Abu-Safieh L, Al-Anazi S, ...
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