NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Hydrocephalus, Normal Pressure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE Homozygous full gene deletions of the <i>NPHP1</i> gene encoding nephrocystin-1 are a prominent cause of NPH. 29654215 2018
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. 18607645 2009
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE In addition, two individuals with classic NPH were found to have homozygous NPHP1 deletions. 16155189 2006
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE The majority of juvenile NPH cases are due to deletion of the NPHP1 gene on chromosome 2q13. 12832729 2003
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE In order to evaluate whether there might be a fourth locus of isolated nephronophthisis, we studied eight NPH families without extrarenal disease manifestations and without linkage to the NPH1 locus (NPHP1) on chromosome 2q12-q13. 11274269 2001
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE There is extensive genetic heterogeneity with at least three different loci for NPH (NPHP1, NPHP2, and NPHP3) and two different loci for MCKD (MCKD1 and MCKD2). 10966501 2000
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE In isolated autosomal recessive NPH type 1 (NPH1), homozygous deletions have been described as causative in more than 80% of patients. 9502560 1998
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE In summary, our study provides a high-resolution physical map of the NPHP1 region with 7 precisely localized expressed sequences, 2 of which have recently been shown to be part of a gene for NPH. 9479500 1998
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE Further characterization of the NPH1 region led to the isolation of large homozygous deletions in approximately 70% of patients with NPH. 9587065 1998
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE Absence of linkage to the NPH1 locus in six NPH families confirmed the existence of at least one additional gene locus for NPH. 8995741 1997
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.100 GeneticVariation disease BEFREE Haplotype analyses show unequivocally that four NPH families are not linked to the chromosome 2 markers, although there are no clinical or pathological features discernible in these families that could separate them from the families linked to the chromosome 2 NPH locus (NPH1). 7806215 1994