MCID: NPH005
MIFTS: 56

Nephronophthisis

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Nephronophthisis

MalaCards integrated aliases for Nephronophthisis:

Name: Nephronophthisis 12 76 24 53 25 59 37 29 29 6 15 40 73
Medullary Cystic Disease 12 76 73
Medullary Cystic Kidney 12 55
Nph 24 25
Kidney Disease, Cystic, Medullary 40
Medullary Cystic Kidney Disease 37
Nphp 25

Characteristics:

Orphanet epidemiological data:

59
nephronophthisis
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:12712
ICD10 33 Q61.5
NCIt 50 C123200
SNOMED-CT 68 204958008 204961009
Orphanet 59 ORPHA655
ICD10 via Orphanet 34 Q61.5
UMLS via Orphanet 74 C0687120

Summaries for Nephronophthisis

NIH Rare Diseases : 53 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 2. 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, liver and bone, and related phenotypes are renal insufficiency and anemia

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 : 25 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 : 76 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 109)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 35.1 INVS NPHP1 NPHP3 NPHP4
2 nephronophthisis 2 35.0 INVS NPHP1 NPHP3 NPHP4
3 nephronophthisis 4 35.0 NPHP1 NPHP4
4 late-onset nephronophthisis 34.2 MAPKBP1 NPHP3 XPNPEP3
5 infantile nephronophthisis 33.9 ANKS6 CEP83 INVS NEK8 NPHP3 NPHP4
6 juvenile nephronophthisis 33.6 ANKS6 GLIS2 INVS IQCB1 MAPKBP1 NPHP1
7 senior-boichis syndrome 33.2 DCDC2 TMEM67
8 joubert syndrome with oculorenal anomalies 33.2 CEP290 NPHP4 ZNF423
9 senior-loken syndrome 1 33.1 CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
10 senior-løken syndrome 33.0 CEP290 IQCB1 NPHP3 NPHP4
11 cystic kidney disease 31.3 INVS NEK8 NPHP1 NPHP3 NPHP4 TMEM67
12 congenital hepatic fibrosis 31.1 RPGRIP1L TMEM67
13 interstitial nephritis 30.8 ANKS6 CEP164 INVS MAPKBP1
14 fundus dystrophy 30.7 CEP290 IQCB1 NPHP1 TMEM67
15 leber congenital amaurosis 30.4 CEP164 CEP290 IQCB1 NPHP1 NPHP3 NPHP4
16 ellis-van creveld syndrome 30.0 IFT172 TTC21B WDR19
17 retinitis pigmentosa 29.7 CEP290 IFT172 INVS IQCB1 NPHP1 NPHP3
18 joubert syndrome 1 29.5 CEP164 CEP290 IFT172 INVS IQCB1 NPHP1
19 nephronophthisis 3 12.3
20 nephronophthisis 11 12.3
21 nephronophthisis 13 12.3
22 nephronophthisis-like nephropathy 1 12.3
23 nephronophthisis 15 12.2
24 nephronophthisis 9 12.2
25 nephronophthisis 14 12.2
26 nephronophthisis 16 12.2
27 nephronophthisis 18 12.2
28 nephronophthisis 19 12.2
29 nephronophthisis 7 12.2
30 nephronophthisis 12 12.2
31 nephronophthisis 20 12.2
32 hydrocephalus, normal-pressure 11.9
33 nephronophthisis familial adult spastic quadriparesis 11.8
34 adult familial nephronophthisis-spastic quadriparesia syndrome 11.8
35 rhyns syndrome 11.5
36 medullary cystic kidney disease 1 11.4
37 ocular motor apraxia 11.1
38 arima syndrome 11.1
39 joubert syndrome with renal anomalies 11.0 NPHP1 RPGRIP1L
40 short-rib thoracic dysplasia 12 11.0 TTC21B WDR19
41 cogan syndrome 11.0 INVS NPHP1 NPHP3 NPHP4
42 bardet-biedl syndrome 15 10.9 NPHP3 RPGRIP1L TMEM67
43 encephalocele 10.9 CEP290 TMEM67
44 cranioectodermal dysplasia 1 10.9
45 senior-loken syndrome 5 10.9
46 cranioectodermal dysplasia 3 10.9
47 cranioectodermal dysplasia 4 10.9
48 senior-loken syndrome 9 10.9
49 retinal aplasia 10.9 CEP290 IQCB1 NPHP1 NPHP4
50 visceral heterotaxy 10.9 INVS NPHP1 NPHP3

Graphical network of the top 20 diseases related to Nephronophthisis:



Diseases related to Nephronophthisis

Symptoms & Phenotypes for Nephronophthisis

Human phenotypes related to Nephronophthisis:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
2 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
3 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703

MGI Mouse Phenotypes related to Nephronophthisis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 ZNF423 TMEM67 TTC21B WDR19 NPHP1 GLIS2
2 cardiovascular system MP:0005385 10.13 RPGRIP1L TMEM67 CEP290 NPHP3 IFT172 NPHP4
3 mortality/aging MP:0010768 10.1 WDR19 RPGRIP1L ZNF423 TMEM67 CEP290 GLIS2
4 craniofacial MP:0005382 10.03 ZNF423 TMEM67 TTC21B WDR19 NPHP3 IFT172
5 embryo MP:0005380 10.01 WDR19 RPGRIP1L TMEM67 TTC21B NPHP3 IFT172
6 nervous system MP:0003631 10 RPGRIP1L ZNF423 TMEM67 TTC21B WDR19 NPHP1
7 renal/urinary system MP:0005367 9.9 TMEM67 TTC21B NPHP1 NPHP3 GLIS2 IFT172
8 limbs/digits/tail MP:0005371 9.85 WDR19 RPGRIP1L TMEM67 TTC21B IFT172 MAPKBP1
9 respiratory system MP:0005388 9.5 RPGRIP1L ZNF423 IFT172 ANKS6 INVS NEK8
10 skeleton MP:0005390 9.23 WDR19 RPGRIP1L TMEM67 TTC21B CEP290 NPHP3

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 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Nephronophthisis

Genetic Tests for Nephronophthisis

Genetic tests related to Nephronophthisis:

# Genetic test Affiliating Genes
1 Nephronophthisis 29 IFT172

Anatomical Context for Nephronophthisis

MalaCards organs/tissues related to Nephronophthisis:

41
Kidney, Liver, Bone, Retina

Publications for Nephronophthisis

Articles related to Nephronophthisis:

(show top 50) (show all 279)
# Title Authors Year
1
Effect of dimethyl fumarate on renal disease progression in a genetic ortholog of nephronophthisis. ( 29436846 )
2018
2
Nephronophthisis: A review of genotype-phenotype correlation. ( 29717526 )
2018
3
Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate. ( 29899363 )
2018
4
Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4a8c. ( 29162218 )
2018
5
Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case. ( 29869359 )
2018
6
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. ( 29974258 )
2018
7
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis. ( 29868523 )
2018
8
Isosorbide dinitrate in nephronophthisis treatment. ( 29575630 )
2018
9
Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. ( 29949740 )
2018
10
Nephronophthisis with brown tumor: Old and new problems. ( 28786156 )
2017
11
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. ( 28392475 )
2017
12
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. ( 28921755 )
2017
13
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. ( 29146700 )
2017
14
Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. ( 29379777 )
2017
15
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28089251 )
2017
16
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138 )
2017
17
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28157543 )
2017
18
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis. ( 27053712 )
2016
19
CaMKII as a Pathological Mediator of ER stress, Oxidative Stress and Mitochondrial Dysfunction in a Murine Model of Nephronophthisis. ( 27076647 )
2016
20
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
21
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. ( 26673778 )
2016
22
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ( 27491411 )
2016
23
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. ( 27515926 )
2016
24
Nephronophthisis and related syndromes. ( 25635582 )
2015
25
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
26
Anks3 interacts with nephronophthisis proteins and is required for normal renal development. ( 25671767 )
2015
27
Clinical and genetic characteristics of Japanese nephronophthisis patients. ( 26499951 )
2015
28
Nephronophthisis: should we target cysts or fibrosis? ( 26219413 )
2015
29
A high mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. ( 26184788 )
2015
30
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. ( 26083374 )
2015
31
Dietary flax oil rich in I+-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
32
Identification of an NPHP1 deletion causing adult form of nephronophthisis. ( 26037636 )
2015
33
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. ( 25851290 )
2015
34
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. ( 26374130 )
2015
35
Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats. ( 26619107 )
2015
36
Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition. ( 25340510 )
2014
37
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. ( 24610927 )
2014
38
A family with five siblings affected with nephronophthisis. ( 24821164 )
2014
39
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. ( 24946806 )
2014
40
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014
41
Nephronophthisis and Retinal Degeneration in Tmem218-/- Mice: A Novel Mouse Model for Senior-LA,ken Syndrome? ( 25161209 )
2014
42
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding. ( 25401970 )
2014
43
Renal Cyclooxygenase Products are Higher and Lipoxygenase Products are Lower in Early Disease in the pcy Mouse Model of Adolescent Nephronophthisis. ( 24178445 )
2014
44
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds. ( 23998563 )
2014
45
Working out nephronophthisis genetics one family at a time. ( 23687355 )
2013
46
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. ( 23661805 )
2013
47
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. ( 23559409 )
2013
48
The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly. ( 24026243 )
2013
49
Refeeding syndrome in a patient with advanced kidney failure due to nephronophthisis. ( 24231489 )
2013
50
Nephronophthisis cannot be detected by urinary screening program. ( 22523277 )
2013

Variations for Nephronophthisis

ClinVar genetic disease variations for Nephronophthisis:

6
(show top 50) (show all 1334)
# 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.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh37 Chromosome 8, 94792861: 94792861
8 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
9 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
10 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh38 Chromosome 8, 93780633: 93780633
11 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
12 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh38 Chromosome 3, 121781772: 121781772
13 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh37 Chromosome 3, 132400921: 132400923
14 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh38 Chromosome 3, 132682077: 132682079
15 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh37 Chromosome 3, 132415642: 132415642
16 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh38 Chromosome 3, 132696798: 132696798
17 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh37 Chromosome 1, 5947496: 5947496
18 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh38 Chromosome 1, 5887436: 5887436
19 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh37 Chromosome 1, 5964848: 5964848
20 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh38 Chromosome 1, 5904788: 5904788
21 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh37 Chromosome 2, 110959061: 110959061
22 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh38 Chromosome 2, 110201484: 110201484
23 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh37 Chromosome 2, 110920625: 110920625
24 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh38 Chromosome 2, 110163048: 110163048
25 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh37 Chromosome 9, 103055234: 103055234
26 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh38 Chromosome 9, 100292952: 100292952
27 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
28 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh38 Chromosome 3, 121790166: 121790166
29 CEP290 NM_025114.3(CEP290): c.4966G> T (p.Glu1656Ter) single nucleotide variant Pathogenic/Likely pathogenic rs62638179 GRCh37 Chromosome 12, 88476854: 88476854
30 CEP290 NM_025114.3(CEP290): c.4966G> T (p.Glu1656Ter) single nucleotide variant Pathogenic/Likely pathogenic rs62638179 GRCh38 Chromosome 12, 88083077: 88083077
31 GLIS2 NM_032575.2(GLIS2): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs587777353 GRCh38 Chromosome 16, 4335060: 4335060
32 GLIS2 NM_032575.2(GLIS2): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs587777353 GRCh37 Chromosome 16, 4385061: 4385061
33 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
34 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh38 Chromosome 12, 88055667: 88055667
35 INVS NM_014425.4(INVS): c.2402G> A (p.Gly801Glu) single nucleotide variant Benign/Likely benign rs76868679 GRCh37 Chromosome 9, 103054941: 103054941
36 INVS NM_014425.4(INVS): c.2402G> A (p.Gly801Glu) single nucleotide variant Benign/Likely benign rs76868679 GRCh38 Chromosome 9, 100292659: 100292659
37 CEP290 NM_025114.3(CEP290): c.226G> A (p.Ala76Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373913704 GRCh37 Chromosome 12, 88533296: 88533296
38 CEP290 NM_025114.3(CEP290): c.226G> A (p.Ala76Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373913704 GRCh38 Chromosome 12, 88139519: 88139519
39 IQCB1 NM_001023570.3(IQCB1): c.1178T> A (p.Ile393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1141528 GRCh37 Chromosome 3, 121507231: 121507231
40 IQCB1 NM_001023570.3(IQCB1): c.1178T> A (p.Ile393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1141528 GRCh38 Chromosome 3, 121788384: 121788384
41 NPHP3 NM_153240.4(NPHP3): c.1189C> T (p.Arg397Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141477666 GRCh37 Chromosome 3, 132427031: 132427031
42 NPHP3 NM_153240.4(NPHP3): c.1189C> T (p.Arg397Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141477666 GRCh38 Chromosome 3, 132708187: 132708187
43 CEP290 NM_025114.3(CEP290): c.1079G> A (p.Arg360Gln) single nucleotide variant Likely benign rs188164241 GRCh37 Chromosome 12, 88519133: 88519133
44 CEP290 NM_025114.3(CEP290): c.1079G> A (p.Arg360Gln) single nucleotide variant Likely benign rs188164241 GRCh38 Chromosome 12, 88125356: 88125356
45 NPHP4 NM_015102.4(NPHP4): c.2882G> A (p.Arg961His) single nucleotide variant Benign rs183885357 GRCh37 Chromosome 1, 5935096: 5935096
46 NPHP4 NM_015102.4(NPHP4): c.2882G> A (p.Arg961His) single nucleotide variant Benign rs183885357 GRCh38 Chromosome 1, 5875036: 5875036
47 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh37 Chromosome 3, 132403418: 132403418
48 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh38 Chromosome 3, 132684574: 132684574
49 CEP290 NM_025114.3(CEP290): c.6401T> C (p.Ile2134Thr) single nucleotide variant Benign/Likely benign rs117852025 GRCh37 Chromosome 12, 88454728: 88454728
50 CEP290 NM_025114.3(CEP290): c.6401T> C (p.Ile2134Thr) single nucleotide variant Benign/Likely benign rs117852025 GRCh38 Chromosome 12, 88060951: 88060951

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 18)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.91 CEP290 DCDC2 IQCB1 NPHP4 RPGRIP1L
2 centrosome GO:0005813 9.91 CEP164 CEP290 IQCB1 NEK8 NPHP4 RPGRIP1L
3 centriole GO:0005814 9.78 CEP164 CEP290 CEP83 IQCB1
4 cell projection GO:0042995 9.77 ANKS6 CEP290 DCDC2 IFT172 INVS NEK8
5 ciliary basal body GO:0036064 9.76 CEP290 IFT172 NPHP4 RPGRIP1L
6 bicellular tight junction GO:0005923 9.74 NPHP1 NPHP4 RPGRIP1L
7 axoneme GO:0005930 9.73 DCDC2 IFT172 RPGRIP1L
8 photoreceptor connecting cilium GO:0032391 9.73 CEP290 IQCB1 NPHP1 NPHP4 RPGRIP1L WDR19
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 ciliary base GO:0097546 9.58 NEK8 NPHP4
13 MKS complex GO:0036038 9.55 CEP290 TMEM67
14 ciliary transition fiber GO:0097539 9.54 CEP164 CEP83
15 intraciliary transport particle A GO:0030991 9.52 TTC21B WDR19
16 cilium GO:0005929 9.44 ANKS6 CEP290 DCDC2 IFT172 INVS NEK8
17 cytoplasm GO:0005737 10.31 ANKS6 CEP164 CEP290 CEP83 DCDC2 GLIS2
18 cytoskeleton GO:0005856 10 CEP164 CEP290 CEP83 DCDC2 INVS IQCB1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 CEP164 CEP290 CEP83 DCDC2 IQCB1 NPHP1
2 kidney development GO:0001822 9.7 GLIS2 NPHP3 RPGRIP1L
3 smoothened signaling pathway GO:0007224 9.67 IFT172 TTC21B WDR19
4 intraciliary transport involved in cilium assembly GO:0035735 9.61 IFT172 TTC21B WDR19
5 photoreceptor cell maintenance GO:0045494 9.58 IQCB1 NPHP3 NPHP4
6 determination of left/right symmetry GO:0007368 9.56 IFT172 NEK8 NPHP3 RPGRIP1L
7 ciliary basal body-plasma membrane docking GO:0097711 9.56 CEP164 CEP290 CEP83 IQCB1 NPHP1 NPHP4
8 positive regulation of smoothened signaling pathway GO:0045880 9.54 DCDC2 IFT172
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 cilium assembly GO:0060271 9.32 CEP164 CEP290 CEP83 DCDC2 IFT172 IQCB1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 ANKS6 CEP164 CEP290 CEP83 DCDC2 GLIS2

Sources for Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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