NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.010 GeneticVariation disease BEFREE We found there were no clinical features of Alport syndrome not only in six probands with c.2858G>T(p.(G953V)) in COL4A5 plus pathogenic variants in other genes (e.g., WT1, ADCK4, NPHP1, TRPC6, COL4A4, and PAX2) but also in another six probands with only the c.2858G>T(p.(G953V)) variant. 31576025 2020
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.010 GeneticVariation disease BEFREE Further imaging and subsequent genetic testing was consistent with an antenatal Wilms' tumor with a mutation in the NPHP1 gene. 31421145 2019
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.010 GeneticVariation disease BEFREE Further imaging and subsequent genetic testing was consistent with an antenatal Wilms' tumor with a mutation in the NPHP1 gene. 31421145 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 GeneticVariation disease BEFREE There were, however, morphologic lesions that were strongly associated with NPHP1 deletion including tubular abnormalities such as diverticulum, florets, and macula densa-like change as well as interstitial Tamm-Horsfall aggregates, periglomerular fibrosis, and the absence of arteriosclerosis. 29949740 2018
CUI: C0012817
Disease: Diverticulum
Diverticulum 		0.010 GeneticVariation phenotype BEFREE There were, however, morphologic lesions that were strongly associated with NPHP1 deletion including tubular abnormalities such as diverticulum, florets, and macula densa-like change as well as interstitial Tamm-Horsfall aggregates, periglomerular fibrosis, and the absence of arteriosclerosis. 29949740 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.010 GeneticVariation disease BEFREE Mutations of the LAMB2 and NPHP1 are present in infants with isolated CNS. 27004562 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE In this cohort, we identified novel loci genome-wide significantly associated as modifiers of the age of onset of AD (CD44, rs187116, P=1.29 × 10⁻¹²; NPHP1, rs10173717, P=1.74 × 10⁻¹²; CADPS2, rs3757536, P=1.54 × 10⁻¹⁰; GREM2, rs12129547, P=1.69 × 10⁻¹³, among others) as well as other loci known to be associated with AD. 22710270 2013
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 GeneticVariation disease BEFREE Additional polymerase chain reaction-based genotyping confirmed that affected individuals had NPHP1 deletions, rather than defects in a known focal segmental glomerulosclerosis-associated gene. 21658830 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 Biomarker disease BEFREE While we did not observe a single-locus "risk CNV" that could account for a major fraction of AMD, we identified several rare and overlapping CNVs containing or flanking compelling candidate genes such as NPHP1 and EFEMP1. 20981449 2011
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		0.010 Biomarker group BEFREE The experimental groups consisted of normal control (n = 15), diabetic (n = 15), insulin-treated diabetic (n = 15, NPH 1-2 U/day ip), and APS-treated diabetic (n = 30, APS 1-2 g/kg/day orally for 10 weeks) hamsters. 19350199 2010
CUI: C3541340
Disease: PONTINE TEGMENTAL CAP DYSPLASIA
PONTINE TEGMENTAL CAP DYSPLASIA 		0.010 GeneticVariation disease BEFREE Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. 20434703 2010
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		0.010 GeneticVariation disease BEFREE We therefore undertook a nationwide survey of JBS in the Netherlands and performed DNA analysis of the AHI1 and NPHP1 genes, as well as a new candidate gene CYCLIN D1. 18054307 2008
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		0.010 GeneticVariation disease BEFREE We therefore undertook a nationwide survey of JBS in the Netherlands and performed DNA analysis of the AHI1 and NPHP1 genes, as well as a new candidate gene CYCLIN D1. 18054307 2008
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE The incidental finding in two patients of heterozygosity for the 250 kb recurrent deletion at the NPH1 locus, associated with autosomal recessive juvenile nephronophthisis, which was inherited from a healthy parent, highlights the fact that inherited aberrations might be disease-related even though not causal for mental retardation. 17601928 2007
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 GeneticVariation group BEFREE Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, which was predicted to be "possibly damaging" and was found with significantly higher frequency than in healthy control subjects and in patients with NPHP1 mutations without neurologic symptoms (five of 26 versus four of 276 and three of 152 alleles; P < 0.001 and P < 0.002, respectively). 17409309 2007
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.010 Biomarker phenotype LHGDN In conclusion, nephrocystin deficiency or dysfunction at the transition zone of renal monocilia and the photoreceptor connecting cilium might explain renal failure and retinal degeneration that are observed in patients with NPHP1. 16885411 2006
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.010 GeneticVariation disease BEFREE The genes mutated in NPHP1 and NPHP4 have been identified, and a gene locus associated with infantile nephronophthisis (NPHP2) was mapped. 12872123 2003
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type 		0.010 GeneticVariation disease BEFREE Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 10839884 2000
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.010 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
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.010 GeneticVariation disease BEFREE Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus. 9794556 1998
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.020 GeneticVariation disease BEFREE Second, we observe a vast radiation of C2 domains, which are key membrane-localization modules, in multiple ciliary proteins, including those from the NPHP1-4-8 and the MKS complexes, such as CC2D2A/MKS6, RPGRIP1, RPGRIP1L, NPHP1, NPHP4, C2CD3, AHI1/Jouberin and CEP76, most of which can be traced back to the last common eukaryotic ancestor. 22983010 2012
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.020 GeneticVariation group BEFREE Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products localize to the primary cilia-centrosome complex, support the unifying concept that cystic kidney diseases are "ciliopathies". 20179356 2010
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.020 Biomarker group BEFREE Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." 19118152 2009
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.020 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: C0035078
Disease: Kidney Failure
Kidney Failure 		0.020 Biomarker disease BEFREE In conclusion, nephrocystin deficiency or dysfunction at the transition zone of renal monocilia and the photoreceptor connecting cilium might explain renal failure and retinal degeneration that are observed in patients with NPHP1. 16885411 2006