Infantile nephronophthisis

Common Name(s)

Infantile nephronophthisis

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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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 "Infantile nephronophthisis" returned 4 free, full-text research articles on human participants. First 3 results:

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
 

Author(s): Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D Porath, Daniela A Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Pietrement, Hulya Kayserili, Rémi Salomon, Marie-Claire Gubler, Edgar A Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier

Journal: Am. J. Hum. Genet.. 2014 Jun;94(6):905-14.

 

Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ciliogenesis. The molecular composition ...

Last Updated: 31 Dec 1969

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Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient.
 

Author(s): Neveen A Soliman, Friedhelm Hildebrandt, Susan J Allen, Edgar A Otto, Marwa M Nabhan, Ahmed M Badr

Journal: Pediatr. Nephrol.. 2010 Oct;25(10):2193-4.

 

Last Updated: 31 Dec 1969

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Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
 

Author(s): Kálmán Tory, Caroline Rousset-Rouvière, Marie-Claire Gubler, Vincent Morinière, Audrey Pawtowski, Céline Becker, Claude Guyot, Sophie Gié, Yaacov Frishberg, Hubert Nivet, Georges Deschênes, Pierre Cochat, Marie-France Gagnadoux, Sophie Saunier, Corinne Antignac, Rémi Salomon

Journal: Kidney Int.. 2009 Apr;75(8):839-47.

 

Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that progresses to end-stage renal disease (ESRD) in about 10% of cases during infancy. Mutations in the INVS (NPHP2) gene were found in a few patients with infantile nephronophthisis. Mutations of NPHP3, ...

Last Updated: 31 Dec 1969

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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 "Infantile 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

Last Updated: 27 Oct 2017

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