Juvenile nephronophthisis

Common Name(s)

Juvenile nephronophthisis

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile nephronophthisis" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 19 May 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile nephronophthisis" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 19 May 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Juvenile nephronophthisis" returned 13 free, full-text research articles on human participants. First 3 results:

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
 

Author(s): Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E C Mellgren, Sabine Leh, Albane Bizet, Daniela A Braun, Heon Y Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J Oakeley, Pierre Saint Mézard, Andreas W Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah

Journal: Am. J. Hum. Genet.. 2017 Feb;100(2):323-333.

 

Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We ...

Last Updated: 16 Jan 2017

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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
 

Author(s): Melissa A Parisi, Craig L Bennett, Melissa L Eckert, William B Dobyns, Joseph G Gleeson, Dennis W W Shaw, Ruth McDonald, Allison Eddy, Phillip F Chance, Ian A Glass

Journal: Am. J. Hum. Genet.. 2004 Jul;75(1):82-91.

 

Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the "molar tooth sign" [MTS] on axial magnetic resonance imaging), mental retardation, hypotonia, irregular breathing pattern, ...

Last Updated: 27 May 2004

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Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
 

Author(s): F Hildebrandt, C Rensing, R Betz, U Sommer, S Birnbaum, A Imm, H Omran, M Leipoldt, E Otto,

Journal: Kidney Int.. 2001 Feb;59(2):434-45.

 

Juvenile nephronophthisis (NPH1), an autosomal recessive cystic disease of the kidney, represents the most common genetic cause of end-stage renal disease in the first two decades of life. On the basis of identification of the gene (NPHP1) defective in NPH1 and the presence of homozygous ...

Last Updated: 22 Feb 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Juvenile nephronophthisis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 15 Sep 2017

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