MCID: NPH005
MIFTS: 55

Nephronophthisis

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nephronophthisis

MalaCards integrated aliases for Nephronophthisis:

Name: Nephronophthisis 12 77 25 54 26 60 38 30 6 15 41 74
Medullary Cystic Disease 12 77 74
Medullary Cystic Kidney 12 56
Nph 25 26
Kidney Disease, Cystic, Medullary 41
Medullary Cystic Kidney Disease 38
Nphp 26

Characteristics:

Orphanet epidemiological data:

60
nephronophthisis
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:12712
NCIt 51 C123200
ICD10 34 Q61.5
ICD10 via Orphanet 35 Q61.5
UMLS via Orphanet 75 C0687120
Orphanet 60 ORPHA655

Summaries for Nephronophthisis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 655Disease definitionNephronophthisis is a chronic tubulointerstitial nephropathy that progresses to end-stage renal failure.EpidemiologyPrevalence is 1/100 000 individuals.Clinical descriptionThe disease is both clinically and genetically heterogeneous. Three main clinical forms have been described. Juvenile nephronophthisis, the most frequent form, progresses to end-stage renal failure before the age of 15 and is responsible for 15% of cases of childhood end-stage renal failure. The first signs appear after the age of 2 with a urine concentration defect responsible for polyuria and polydipsia, failure to thrive and a progressive deterioration of renal function without signs of glomerular disease. Renal ultrasonography reveals normal-sized kidneys. Histological lesions affect the tubular basement membranes, which are irregularly thickened and multilayered, or thinned. Interstitial fibrosis is also present. Some children present with extrarenal symptoms: tapetoretinal degeneration (as in Senior-Loken syndrome, see this term), intellectual deficiency, cerebellar ataxia, bone anomalies or liver involvement. Infantile nephronophthisis is a chronic tubulointerstitial nephropathy with cortical microcysts progressing to end-stage renal failure before age 5. Finally, the late-onset form of nephronophthisis is a rarer form of the disease. Clinical and histological signs are similar to those of the juvenile form, but the age at which renal failure reaches a terminal stage occurs later than in the juvenile form, at a mean age of 19 years.EtiologyFive genes associated with the disease have been identified. The first gene, NPHP1, has been mapped to chromosome 2q13. Homozygousdeletions have been observed in 70% of affected children and their detection by PCR allows the diagnosis to be established. The existence of genetic heterogeneity has been shown in patients with or without extra-renal involvement. Mutations in the NPHP2 gene, coding for inversin, are responsible for the infantile form of nephronophthisis, which progresses to end-stage renal failure before the age of 5 years. Mutations of the NPHP3 gene, localised to chromosome 3q21-22, have been described in a large Venezuelan family and cause the late-onset form of the disease. Mutations of the NPHP4 gene, localised to chromosome 1p36 have been observed in several families, some of which had associated retinal involvement. Mutations of another gene, IQCB1/NPHP5, localised to chromosome 3q13, have recently been identified in patients with autosomal recessive nephronophthisis and Senior-Loken syndrome.Antenatal diagnosisAntenatal diagnosis can be performed when the mutation has been identified in one child of the family.Genetic counselingNephronophthisis is inherited in an autosomal recessive manner.Management and treatmentAt present, there is no treatment for preventing progression to end-stage renal failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Nephronophthisis, also known as medullary cystic disease, is related to nephronophthisis 1 and nephronophthisis-like nephropathy 1. An important gene associated with Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and retina, and related phenotypes are abnormality of retinal pigmentation and renal insufficiency

Disease Ontology : 12 An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).

Genetics Home Reference : 26 Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.

Wikipedia : 77 Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by... more...

GeneReviews: NBK368475

Related Diseases for Nephronophthisis

Diseases in the Nephronophthisis family:

Nephronophthisis 1 Nephronophthisis 2
Nephronophthisis 3 Nephronophthisis 4
Nephronophthisis 7 Nephronophthisis 11
Nephronophthisis 12 Nephronophthisis 9
Nephronophthisis 13 Nephronophthisis 14
Nephronophthisis 15 Nephronophthisis 16
Nephronophthisis 18 Nephronophthisis 19
Nephronophthisis 20 Infantile Nephronophthisis
Juvenile Nephronophthisis Late-Onset Nephronophthisis

Diseases related to Nephronophthisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 34.8 INVS NPHP1 NPHP3 NPHP4
2 nephronophthisis-like nephropathy 1 34.7 NPHP1 XPNPEP3
3 nephronophthisis 13 34.5 GLIS2 INVS NPHP1 WDR19
4 nephronophthisis 7 34.5 GLIS2 INVS NPHP1 WDR19
5 nephronophthisis 16 34.5 ANKS6 CEP290 IQCB1 NPHP1
6 nephronophthisis 2 34.5 INVS IQCB1 NEK8 NPHP1 NPHP3 NPHP4
7 nephronophthisis 15 34.4 CEP164 CEP83 INVS
8 nephronophthisis 19 34.4 NPHP1 NPHP4 TMEM67
9 nephronophthisis 9 34.4 ANKS6 INVS NEK8 NPHP1 NPHP3 NPHP4
10 nephronophthisis 4 34.4 NPHP1 NPHP4
11 nephronophthisis 14 34.4 NPHP4 ZNF423
12 nephronophthisis 18 34.3 CEP83 INVS IQCB1 NEK8 NPHP1 NPHP3
13 nephronophthisis 11 34.3 CEP290 IQCB1 NPHP1 NPHP3 NPHP4 RPGRIP1L
14 nephronophthisis 3 34.3 NPHP1 NPHP3
15 juvenile nephronophthisis 34.2 ANKS6 GLIS2 INVS IQCB1 MAPKBP1 NPHP1
16 infantile nephronophthisis 34.0 ANKS6 CEP83 INVS NEK8 NPHP3 NPHP4
17 late-onset nephronophthisis 33.8 MAPKBP1 NPHP3 XPNPEP3
18 senior-loken syndrome 1 33.6 CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
19 joubert syndrome with oculorenal anomalies 32.8 CEP290 ZNF423
20 joubert syndrome with renal anomalies 31.6 NPHP1 RPGRIP1L
21 kidney disease 31.5 CEP290 NEK8 NPHP1 TMEM67
22 cystic kidney disease 31.1 ANKS6 INVS NEK8 NPHP1 NPHP3 NPHP4
23 congenital hepatic fibrosis 31.0 RPGRIP1L TMEM67
24 apraxia 30.9 INPP5E NPHP1 NPHP4
25 joubert syndrome 6 30.9 CEP290 NPHP1 TMEM67
26 meckel syndrome, type 3 30.8 CEP290 NPHP1 RPGRIP1L TMEM67
27 coach syndrome 30.5 INPP5E RPGRIP1L TMEM67
28 retinitis pigmentosa 30.5 CEP290 IFT172 INVS IQCB1 NPHP1 NPHP3
29 fundus dystrophy 30.5 CEP290 INPP5E IQCB1 NPHP1
30 joubert syndrome 1 30.4 CEP164 CEP290 IFT172 INPP5E INVS IQCB1
31 leber congenital amaurosis 30.4 CEP164 CEP290 IQCB1 NPHP1 NPHP3 NPHP4
32 medullary cystic kidney disease 2 12.9
33 nephronophthisis 20 12.5
34 nephronophthisis 12 12.4
35 hydrocephalus, normal-pressure 12.1
36 autosomal dominant tubulointerstitial kidney disease due to umod mutations 12.0
37 rhyns syndrome 12.0
38 autosomal dominant tubulointerstitial kidney disease, muc1-related 12.0
39 nephronophthisis familial adult spastic quadriparesis 12.0
40 adult familial nephronophthisis-spastic quadriparesia syndrome 12.0
41 autosomal dominant tubulointerstitial kidney disease due to muc1 mutations 11.9
42 medullary cystic kidney disease 1 11.6
43 hyperuricemic nephropathy, familial juvenile, 1 11.6
44 autosomal dominant tubulointerstitial kidney disease, umod-related 11.5
45 senior-boichis syndrome 11.3
46 ocular motor apraxia 11.3
47 senior-loken syndrome 4 11.3
48 arima syndrome 11.3
49 senior-loken syndrome 8 11.3
50 focal segmental glomerulosclerosis 2 11.2

Graphical network of the top 20 diseases related to Nephronophthisis:



Diseases related to Nephronophthisis

Symptoms & Phenotypes for Nephronophthisis

Human phenotypes related to Nephronophthisis:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
2 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
3 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903

MGI Mouse Phenotypes related to Nephronophthisis:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 CEP290 GLIS2 IFT172 INPP5E INVS NPHP1
2 growth/size/body region MP:0005378 10.21 ANKS6 CEP290 IFT172 INPP5E INVS NEK8
3 mortality/aging MP:0010768 10.18 ANKS6 CEP164 CEP290 GLIS2 IFT172 INPP5E
4 cardiovascular system MP:0005385 10.16 ANKS6 CEP290 IFT172 INVS NEK8 NPHP3
5 craniofacial MP:0005382 10.13 CEP290 IFT172 INPP5E NPHP3 RPGRIP1L TMEM67
6 embryo MP:0005380 10.11 ANKS6 IFT172 INPP5E INVS NPHP3 RPGRIP1L
7 nervous system MP:0003631 10.06 CEP290 IFT172 INPP5E NPHP1 NPHP3 NPHP4
8 renal/urinary system MP:0005367 10.03 CEP290 GLIS2 IFT172 INPP5E INVS NEK8
9 limbs/digits/tail MP:0005371 9.88 IFT172 INPP5E RPGRIP1L TMEM67 TTC21B WDR19
10 respiratory system MP:0005388 9.7 ANKS6 CEP290 IFT172 INVS NEK8 RPGRIP1L
11 skeleton MP:0005390 9.61 CEP290 IFT172 INPP5E MAPKBP1 NPHP3 RPGRIP1L
12 vision/eye MP:0005391 9.17 CEP290 IFT172 INPP5E NPHP1 NPHP4 RPGRIP1L

Drugs & Therapeutics for Nephronophthisis

Drugs for Nephronophthisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957 Not Applicable
2 Somatosensory Modulation of Salivary Gene Expression and Oral Feeding in Preterm Infants Recruiting NCT02696343 Not Applicable
3 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
4 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Nephronophthisis

Genetic Tests for Nephronophthisis

Genetic tests related to Nephronophthisis:

# Genetic test Affiliating Genes
1 Nephronophthisis 30 IFT172

Anatomical Context for Nephronophthisis

MalaCards organs/tissues related to Nephronophthisis:

42
Kidney, Bone, Retina

Publications for Nephronophthisis

Articles related to Nephronophthisis:

(show top 50) (show all 327)
# Title Authors Year
1
Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells. ( 31048733 )
2019
2
Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies. ( 30071318 )
2019
3
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. ( 30609407 )
2019
4
Inactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis. ( 30770218 )
2019
5
PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion. ( 30847201 )
2019
6
Metabolic perturbations caused by depletion of nephronophthisis factor Anks6 in mIMCD3 cells. ( 31041607 )
2019
7
A bell-shaped pattern of urinary aquaporin-2-bearing extracellular vesicle release in an experimental model of nephronophthisis. ( 31074077 )
2019
8
Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family. ( 31096956 )
2019
9
Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case. ( 29869359 )
2018
10
Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4
. ( 29162218 )
2018
11
Effect of dimethyl fumarate on renal disease progression in a genetic ortholog of nephronophthisis. ( 29436846 )
2018
12
Isosorbide dinitrate in nephronophthisis treatment. ( 29575630 )
2018
13
Nephronophthisis: A review of genotype-phenotype correlation. ( 29717526 )
2018
14
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis. ( 29868523 )
2018
15
Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate. ( 29899363 )
2018
16
Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. ( 29949740 )
2018
17
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. ( 29974258 )
2018
18
Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. ( 29991045 )
2018
19
Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. ( 30087219 )
2018
20
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. ( 30111592 )
2018
21
Using zebrafish to study the function of nephronophthisis and related ciliopathy genes. ( 30254740 )
2018
22
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. ( 28392475 )
2017
23
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138 )
2017
24
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28089251 )
2017
25
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28157543 )
2017
26
Nephronophthisis with brown tumor: Old and new problems. ( 28786156 )
2017
27
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. ( 28921755 )
2017
28
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. ( 29146700 )
2017
29
Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. ( 29379777 )
2017
30
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
31
High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. ( 26184788 )
2016
32
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. ( 26374130 )
2016
33
Clinical and genetic characteristics of Japanese nephronophthisis patients. ( 26499951 )
2016
34
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. ( 26673778 )
2016
35
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis. ( 27053712 )
2016
36
CaMKII as a pathological mediator of ER stress, oxidative stress, and mitochondrial dysfunction in a murine model of nephronophthisis. ( 27076647 )
2016
37
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ( 27491411 )
2016
38
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. ( 27515926 )
2016
39
Identification of an NPHP1 deletion causing adult form of nephronophthisis. ( 26037636 )
2016
40
Nephronophthisis: should we target cysts or fibrosis? ( 26219413 )
2016
41
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
42
Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats. ( 26619107 )
2015
43
Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome? ( 25161209 )
2015
44
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding. ( 25401970 )
2015
45
Dietary flax oil rich in α-linolenic acid reduces renal disease and oxylipin abnormalities, including formation of docosahexaenoic acid derived oxylipins in the CD1-pcy/pcy mouse model of nephronophthisis. ( 25512022 )
2015
46
Nephronophthisis and related syndromes. ( 25635582 )
2015
47
Anks3 interacts with nephronophthisis proteins and is required for normal renal development. ( 25671767 )
2015
48
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. ( 25851290 )
2015
49
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. ( 26083374 )
2015
50
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014

Variations for Nephronophthisis

ClinVar genetic disease variations for Nephronophthisis:

6 (show top 50) (show all 1589)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
2 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh38 Chromosome 16, 53686524: 53686524
3 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
4 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
5 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
6 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
7 TMEM67 NM_153704.5(TMEM67): c.958A> T (p.Ser320Cys) single nucleotide variant risk factor rs111619594 GRCh37 Chromosome 8, 94793190: 94793190
8 TMEM67 NM_153704.5(TMEM67): c.958A> T (p.Ser320Cys) single nucleotide variant risk factor rs111619594 GRCh38 Chromosome 8, 93780962: 93780962
9 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh37 Chromosome 8, 94792861: 94792861
10 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
11 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
12 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh38 Chromosome 8, 93780633: 93780633
13 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
14 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh38 Chromosome 3, 121781772: 121781772
15 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh37 Chromosome 3, 132400921: 132400923
16 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh38 Chromosome 3, 132682077: 132682079
17 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh37 Chromosome 3, 132415642: 132415642
18 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh38 Chromosome 3, 132696798: 132696798
19 NPHP4 NM_015102.4(NPHP4): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs137852919 GRCh37 Chromosome 1, 5947454: 5947454
20 NPHP4 NM_015102.4(NPHP4): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs137852919 GRCh38 Chromosome 1, 5887394: 5887394
21 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh37 Chromosome 1, 5947496: 5947496
22 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh38 Chromosome 1, 5887436: 5887436
23 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh37 Chromosome 1, 5964848: 5964848
24 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh38 Chromosome 1, 5904788: 5904788
25 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh37 Chromosome 2, 110959061: 110959061
26 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh38 Chromosome 2, 110201484: 110201484
27 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh37 Chromosome 2, 110920625: 110920625
28 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh38 Chromosome 2, 110163048: 110163048
29 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh37 Chromosome 9, 103055234: 103055234
30 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh38 Chromosome 9, 100292952: 100292952
31 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
32 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh38 Chromosome 3, 121790166: 121790166
33 TTC21B NM_024753.4(TTC21B): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs140511594 GRCh37 Chromosome 2, 166797621: 166797621
34 TTC21B NM_024753.4(TTC21B): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs140511594 GRCh38 Chromosome 2, 165941111: 165941111
35 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 GRCh37 Chromosome 12, 88508265: 88508265
36 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 GRCh38 Chromosome 12, 88114488: 88114488
37 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 GRCh37 Chromosome 12, 88530474: 88530477
38 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 GRCh38 Chromosome 12, 88136697: 88136700
39 CEP290 NM_025114.3(CEP290): c.3826G> A (p.Gly1276Arg) single nucleotide variant Uncertain significance rs267603712 GRCh37 Chromosome 12, 88483012: 88483012
40 CEP290 NM_025114.3(CEP290): c.3826G> A (p.Gly1276Arg) single nucleotide variant Uncertain significance rs267603712 GRCh38 Chromosome 12, 88089235: 88089235
41 CEP290 NM_025114.3(CEP290): c.3826G> A (p.Gly1276Arg) single nucleotide variant Uncertain significance rs267603712 NCBI36 Chromosome 12, 87007143: 87007143
42 NPHP1 NM_000272.3(NPHP1): c.654G> A (p.Glu218=) single nucleotide variant Benign rs11675767 GRCh37 Chromosome 2, 110922703: 110922703
43 NPHP1 NM_000272.3(NPHP1): c.654G> A (p.Glu218=) single nucleotide variant Benign rs11675767 GRCh38 Chromosome 2, 110165126: 110165126
44 NPHP4 NM_015102.4(NPHP4): c.1441+13A> G single nucleotide variant Benign/Likely benign rs7520105 GRCh37 Chromosome 1, 5987696: 5987696
45 NPHP4 NM_015102.4(NPHP4): c.1441+13A> G single nucleotide variant Benign/Likely benign rs7520105 GRCh38 Chromosome 1, 5927636: 5927636
46 NPHP4 NM_015102.4(NPHP4): c.1611+9C> T single nucleotide variant Benign/Likely benign rs114900019 GRCh37 Chromosome 1, 5967166: 5967166
47 NPHP4 NM_015102.4(NPHP4): c.1611+9C> T single nucleotide variant Benign/Likely benign rs114900019 GRCh38 Chromosome 1, 5907106: 5907106
48 NPHP4 NM_015102.4(NPHP4): c.1926G> A (p.Glu642=) single nucleotide variant Benign/Likely benign rs12120967 GRCh37 Chromosome 1, 5965381: 5965381
49 NPHP4 NM_015102.4(NPHP4): c.1926G> A (p.Glu642=) single nucleotide variant Benign/Likely benign rs12120967 GRCh38 Chromosome 1, 5905321: 5905321
50 NPHP4 NM_015102.4(NPHP4): c.2293G> A (p.Val765Ile) single nucleotide variant Benign rs149244006 GRCh37 Chromosome 1, 5950939: 5950939

Copy number variations for Nephronophthisis from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 134883 2 108600000 113800000 Microdeletion Nephronophthisis
2 135008 2 110200000 114400000 Deletion NPHP1 Nephronophthisis

Expression for Nephronophthisis

Search GEO for disease gene expression data for Nephronophthisis.

Pathways for Nephronophthisis

GO Terms for Nephronophthisis

Cellular components related to Nephronophthisis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.88 CEP164 CEP290 IQCB1 NPHP4 RPGRIP1L TMEM67
2 microtubule organizing center GO:0005815 9.87 CEP290 IQCB1 NPHP4 RPGRIP1L
3 centriole GO:0005814 9.78 CEP164 CEP290 CEP83 IQCB1
4 cell projection GO:0042995 9.77 ANKS6 CEP290 IFT172 INPP5E INVS NEK8
5 ciliary basal body GO:0036064 9.76 CEP290 IFT172 NPHP4 RPGRIP1L
6 bicellular tight junction GO:0005923 9.73 NPHP1 NPHP4 RPGRIP1L
7 photoreceptor connecting cilium GO:0032391 9.73 CEP290 IQCB1 NPHP1 NPHP4 RPGRIP1L WDR19
8 axoneme GO:0005930 9.72 IFT172 INPP5E RPGRIP1L
9 ciliary tip GO:0097542 9.67 IFT172 TTC21B WDR19
10 ciliary transition zone GO:0035869 9.62 CEP290 NPHP4 RPGRIP1L TMEM67
11 non-motile cilium GO:0097730 9.61 GLIS2 NPHP4 WDR19
12 MKS complex GO:0036038 9.54 CEP290 TMEM67
13 ciliary transition fiber GO:0097539 9.52 CEP164 CEP83
14 intraciliary transport particle A GO:0030991 9.51 TTC21B WDR19
15 cilium GO:0005929 9.44 ANKS6 CEP290 IFT172 INPP5E INVS NEK8
16 cytoplasm GO:0005737 10.3 ANKS6 CEP164 CEP290 CEP83 GLIS2 INPP5E
17 cytoskeleton GO:0005856 10 CEP164 CEP290 CEP83 INPP5E INVS IQCB1

Biological processes related to Nephronophthisis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.71 INVS NPHP3 NPHP4
2 kidney development GO:0001822 9.7 GLIS2 NPHP3 RPGRIP1L
3 cell projection organization GO:0030030 9.7 CEP164 CEP290 CEP83 IQCB1 NPHP1 TMEM67
4 smoothened signaling pathway GO:0007224 9.67 IFT172 TTC21B WDR19
5 intraciliary transport involved in cilium assembly GO:0035735 9.61 IFT172 TTC21B WDR19
6 cilium assembly GO:0060271 9.61 CEP164 CEP290 CEP83 IFT172 IQCB1 NPHP3
7 photoreceptor cell maintenance GO:0045494 9.58 IQCB1 NPHP3 NPHP4
8 determination of left/right symmetry GO:0007368 9.56 IFT172 NEK8 NPHP3 RPGRIP1L
9 intraciliary retrograde transport GO:0035721 9.51 TTC21B WDR19
10 regulation of smoothened signaling pathway GO:0008589 9.5 IFT172 RPGRIP1L TTC21B
11 maintenance of animal organ identity GO:0048496 9.48 IQCB1 NPHP3
12 visual behavior GO:0007632 9.46 NPHP1 NPHP4
13 positive regulation of bicellular tight junction assembly GO:1903348 9.37 NPHP1 NPHP4
14 ciliary basal body-plasma membrane docking GO:0097711 9.23 CEP164 CEP290 CEP83 IQCB1 NPHP1 NPHP4

Molecular functions related to Nephronophthisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 ANKS6 CEP164 CEP290 CEP83 GLIS2 INVS

Sources for Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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