Nephronophthisis 1

Common Name(s)

Nephronophthisis 1

Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1; {266900}); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1; {213300}); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1; {249000}). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by {18:Hoff et al., 2013}). Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. {30:Simms et al. (2009)} provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of Nephronophthisis NPHP2 ({602088}) is caused by mutation in the INVS gene ({243305}) on chromosome 9q31; NPHP3 ({604387}) is caused by mutation in the NPHP3 gene ({608002}) on chromosome 3q22; NPHP4 ({606966}) is caused by mutation in the NPHP4 gene ({607215}) on chromosome 1p36; NPHP7 ({611498}) is caused by mutation in the GLIS2 gene ({608539}) on chromosome 16p13; NPHP9 ({613824}) is caused by mutation in the NEK8 gene ({609799}) on chromosome 17q11; NPHP11 ({613550}) is caused by mutation in the TMEM67 gene ({609884}) on chromosome 8q22; NPHP12 ({613820}) is caused by mutation in the TTC21B gene ({612014}) on chromosome 2q24; NPHP13 ({614377}) is caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14; NPHP14 ({614844}) is caused by mutation in the ZNF423 gene ({604557}) on chromosome 16; NPHP15 ({614845}) is caused by mutation in the CEP164 gene ({614848}) on chromosome 11q; NPHP16 ({615382}) is caused by mutation in the ANKS6 gene ({615370}) on chromosome 9q22; NPHP18 ({615862}) is caused by mutation in the CEP83 gene ({615847}) on chromosome 12q22; NPHP19 ({616217}) is caused by mutation in the DCDC2 gene ({605755}) on chromosome 6p22; and NPHP20 ({617271}) is caused by mutation in the MAPKBP1 gene ({616786}) on chromosome 15q13.
 

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Condition Specific Organizations

Following organizations serve the condition "Nephronophthisis 1" for support, advocacy or research.

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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 "Nephronophthisis 1" returned 4 free, full-text research articles on human participants. First 3 results:

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
 

Author(s): Jan Halbritter, Jonathan D Porath, Katrina A Diaz, Daniela A Braun, Stefan Kohl, Moumita Chaki, Susan J Allen, Neveen A Soliman, Friedhelm Hildebrandt, Edgar A Otto,

Journal: Hum. Genet.. 2013 Aug;132(8):865-84.

 

Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful ...

Last Updated: 17 Jul 2013

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Joubert syndrome with nephronophthisis in neurofibromatosis type 1.
 

Author(s): Javed Ahmed, Uma S Ali

Journal: Saudi J Kidney Dis Transpl. 2011 Jul;22(4):788-91.

 

Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal ...

Last Updated: 11 Jul 2011

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Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.
 

Author(s): G Caridi, M Dagnino, A Rossi, E M Valente, E Bertini, E Fazzi, F Emma, L Murer, E Verrina, G M Ghiggeri

Journal: Kidney Int.. 2006 Oct;70(7):1342-7.

 

Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but co-occurrence of extrarenal symptoms, mainly retinitis pigmentosa, is observed in a subset of patients. Recently, [NPHP1, DEL] has been detected in ...

Last Updated: 21 Sep 2006

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The terms "Nephronophthisis 1" returned 0 free, full-text review articles on human participants.

 
 
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