NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 Biomarker disease BEFREE Retinal degeneration in INPP5E-, MKS1-, and NPHP1-associated JS was generally milder. 30055837 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 Biomarker disease BEFREE A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically with Ahi1, a known JBTS locus. 24746959 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). 23532844 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. 23683649 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity-by-descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD. 17603801 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. 17409309 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE Homozygous deletions of NPHP1 on chromosome 2q13 have been identified in individuals with NPHP-associated JBTS. 16240161 2006
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE The NPHP1 deletion represents the first molecular defect associated with JS in a subset of mildly affected subjects. 15138899 2004
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE The recently described mutations in NPHP1, encoding a protein containing an SH3 domain, in a subset of patients with JS plus nephronophthisis, suggest a shared pathway. 15467982 2004
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation disease BEFREE Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci. 10511339 1999