MCID: NPH005
MIFTS: 57

Nephronophthisis

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Nephronophthisis

MalaCards integrated aliases for Nephronophthisis:

Name: Nephronophthisis 12 72 23 49 24 55 28 28 14 69
Medullary Cystic Disease 12 72 69
Medullary Cystic Kidney 12 51
Nph 23 24
Medullary Cystic Kidney Disease 36
Nphp 24

Characteristics:

Orphanet epidemiological data:

55
nephronophthisis
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:12712
ICD10 32 Q61.5
NCIt 46 C123200
SNOMED-CT 64 204958008 204961009
Orphanet 55 ORPHA655
UMLS via Orphanet 70 C0687120
ICD10 via Orphanet 33 Q61.5
KEGG 36 H02012

Summaries for Nephronophthisis

NIH Rare Diseases : 49 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. Last updated: 2/14/2007

MalaCards based summary : Nephronophthisis, also known as medullary cystic disease, is related to nephronophthisis 1 and nephronophthisis 2, and has symptoms including renal insufficiency, anemia and abnormality of retinal pigmentation. 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 cellular and mortality/aging

Genetics Home Reference : 24 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.

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).

Wikipedia : 72 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 Late-Onset Nephronophthisis

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 34.5 INVS NPHP1 NPHP3 NPHP4
2 nephronophthisis 2 34.4 INVS NPHP1 NPHP3 NPHP4
3 nephronophthisis 4 34.3 NPHP1 NPHP4
4 nephronophthisis 16 33.6 ANKS6 CEP83 GLIS2 INVS MAPKBP1 NEK8
5 late-onset nephronophthisis 33.6 MAPKBP1 NPHP3 XPNPEP3
6 senior-loken syndrome 1 32.9 CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
7 joubert syndrome with oculorenal anomalies 32.5 CEP290 ZNF423
8 cystic kidney disease 30.9 INVS NEK8 NPHP1 NPHP3 NPHP4 XPNPEP3
9 ciliopathy 30.6 CEP290 INPP5E NPHP1 NPHP4 RPGRIP1L TMEM67
10 congenital hepatic fibrosis 30.5 RPGRIP1L TMEM67
11 senior-løken syndrome 30.3 CEP290 IQCB1 NPHP3 NPHP4
12 interstitial nephritis 30.3 ANKS6 INVS MAPKBP1
13 leber congenital amaurosis 30.1 CEP164 CEP290 IQCB1 NPHP4 ZNF423
14 retinitis pigmentosa 29.7 CEP290 IFT172 INVS IQCB1 NPHP1 NPHP3
15 joubert syndrome 1 29.4 CEP164 CEP290 IFT172 INPP5E INVS IQCB1
16 nephronophthisis 3 12.3
17 nephronophthisis 11 12.3
18 nephronophthisis 7 12.3
19 nephronophthisis 13 12.3
20 nephronophthisis-like nephropathy 1 12.2
21 nephronophthisis 15 12.2
22 nephronophthisis 9 12.2
23 nephronophthisis 20 12.2
24 nephronophthisis 14 12.2
25 nephronophthisis 18 12.2
26 nephronophthisis 19 12.2
27 nephronophthisis 12 12.2
28 hydrocephalus, normal-pressure 11.9
29 nephronophthisis familial adult spastic quadriparesis 11.8
30 adult familial nephronophthisis-spastic quadriparesia syndrome 11.8
31 rhyns syndrome 11.5
32 autosomal dominant tubulointerstitial kidney disease 11.4
33 senior-boichis syndrome 11.1
34 ocular motor apraxia 11.1
35 arima syndrome 11.1
36 senior-loken syndrome 5 10.9
37 cranioectodermal dysplasia 3 10.9
38 cranioectodermal dysplasia 4 10.9
39 senior-loken syndrome 9 10.9
40 autosomal dominant tubulointerstitial kidney disease, muc1-related 10.8
41 alsing syndrome 10.8
42 medullary cystic kidney disease 1 10.8
43 senior-loken syndrome 4 10.8
44 joubert syndrome 5 10.8
45 senior-loken syndrome 6 10.8
46 cranioectodermal dysplasia 2 10.8
47 senior-loken syndrome 7 10.8
48 senior-loken syndrome 8 10.8
49 oligomeganephronic renal hypoplasia 10.8
50 short-rib thoracic dysplasia 12 10.6 TTC21B WDR19

Graphical network of the top 20 diseases related to Nephronophthisis:



Diseases related to Nephronophthisis

Symptoms & Phenotypes for Nephronophthisis

Human phenotypes related to Nephronophthisis:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
2 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
3 abnormality of retinal pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007703

MGI Mouse Phenotypes related to Nephronophthisis:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 TTC21B NPHP4 WDR19 ZNF423 NPHP1 TMEM67
2 mortality/aging MP:0010768 10.18 NPHP3 WDR19 RPGRIP1L TMEM67 INVS GLIS2
3 growth/size/body region MP:0005378 10.17 TMEM67 NPHP3 WDR19 RPGRIP1L CEP290 INVS
4 cardiovascular system MP:0005385 10.16 TMEM67 NPHP3 NPHP4 RPGRIP1L CEP290 INVS
5 craniofacial MP:0005382 10.13 TTC21B WDR19 RPGRIP1L ZNF423 TMEM67 NPHP3
6 embryo MP:0005380 10.11 NPHP3 TTC21B WDR19 RPGRIP1L TMEM67 INVS
7 nervous system MP:0003631 10.06 TMEM67 NPHP3 NPHP4 TTC21B WDR19 RPGRIP1L
8 renal/urinary system MP:0005367 10.03 TTC21B NPHP4 RPGRIP1L TMEM67 NPHP3 INVS
9 limbs/digits/tail MP:0005371 9.95 TTC21B WDR19 RPGRIP1L TMEM67 MAPKBP1 IFT172
10 respiratory system MP:0005388 9.7 RPGRIP1L CEP290 INVS NEK8 IFT172 ANKS6
11 skeleton MP:0005390 9.61 TMEM67 NPHP3 TTC21B WDR19 RPGRIP1L MAPKBP1
12 vision/eye MP:0005391 9.17 NPHP4 WDR19 RPGRIP1L NPHP1 CEP290 IFT172

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
2 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
3 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 28 IFT172

Anatomical Context for Nephronophthisis

MalaCards organs/tissues related to Nephronophthisis:

38
Kidney, Liver, Bone, Retina

Publications for Nephronophthisis

Articles related to Nephronophthisis:

(show top 50) (show all 272)
# Title Authors Year
1
Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4a8c. ( 29162218 )
2018
2
Effect of dimethyl fumarate on renal disease progression in a genetic ortholog of nephronophthisis. ( 29436846 )
2018
3
Nephronophthisis with brown tumor: Old and new problems. ( 28786156 )
2017
4
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. ( 29146700 )
2017
5
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. ( 28392475 )
2017
6
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. ( 28921755 )
2017
7
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28089251 )
2017
8
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138 )
2017
9
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28157543 )
2017
10
Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. ( 29379777 )
2017
11
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
12
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. ( 26673778 )
2016
13
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. ( 27515926 )
2016
14
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ( 27491411 )
2016
15
CaMKII as a Pathological Mediator of ER stress, Oxidative Stress and Mitochondrial Dysfunction in a Murine Model of Nephronophthisis. ( 27076647 )
2016
16
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis. ( 27053712 )
2016
17
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. ( 26083374 )
2015
18
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. ( 25851290 )
2015
19
Clinical and genetic characteristics of Japanese nephronophthisis patients. ( 26499951 )
2015
20
Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats. ( 26619107 )
2015
21
Anks3 interacts with nephronophthisis proteins and is required for normal renal development. ( 25671767 )
2015
22
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. ( 26374130 )
2015
23
Identification of an NPHP1 deletion causing adult form of nephronophthisis. ( 26037636 )
2015
24
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
25
A high mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. ( 26184788 )
2015
26
Nephronophthisis: should we target cysts or fibrosis? ( 26219413 )
2015
27
Nephronophthisis and related syndromes. ( 25635582 )
2015
28
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
29
A family with five siblings affected with nephronophthisis. ( 24821164 )
2014
30
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. ( 24946806 )
2014
31
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds. ( 23998563 )
2014
32
Nephronophthisis and Retinal Degeneration in Tmem218-/- Mice: A Novel Mouse Model for Senior-LA,ken Syndrome? ( 25161209 )
2014
33
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014
34
Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition. ( 25340510 )
2014
35
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding. ( 25401970 )
2014
36
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. ( 24610927 )
2014
37
Renal Cyclooxygenase Products are Higher and Lipoxygenase Products are Lower in Early Disease in the pcy Mouse Model of Adolescent Nephronophthisis. ( 24178445 )
2014
38
Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes. ( 23549608 )
2013
39
Nephronophthisis cannot be detected by urinary screening program. ( 22523277 )
2013
40
Working out nephronophthisis genetics one family at a time. ( 23687355 )
2013
41
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. ( 23793029 )
2013
42
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. ( 23661805 )
2013
43
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. ( 23559409 )
2013
44
Refeeding syndrome in a patient with advanced kidney failure due to nephronophthisis. ( 24231489 )
2013
45
The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly. ( 24026243 )
2013
46
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. ( 23683649 )
2013
47
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. ( 23713026 )
2013
48
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. ( 22106379 )
2012
49
Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease. ( 22563011 )
2012
50
Clinical spectrum and pathogenesis of nephronophthisis. ( 22388554 )
2012

Variations for Nephronophthisis

ClinVar genetic disease variations for Nephronophthisis:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh37 Chromosome 9, 103055234: 103055234
2 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
3 GLIS2 NM_032575.2(GLIS2): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs587777353 GRCh38 Chromosome 16, 4335060: 4335060
4 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
5 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
6 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
7 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
8 TMEM67 NM_153704.5(TMEM67): c.958A> T (p.Ser320Cys) single nucleotide variant risk factor rs111619594 GRCh37 Chromosome 8, 94793190: 94793190
9 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
10 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh37 Chromosome 8, 94792861: 94792861
11 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
12 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh37 Chromosome 3, 132400921: 132400923
13 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh37 Chromosome 3, 132415642: 132415642
14 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh37 Chromosome 1, 5947496: 5947496
15 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh37 Chromosome 1, 5964848: 5964848
16 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh37 Chromosome 2, 110959061: 110959061
17 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh37 Chromosome 2, 110920625: 110920625
18 NPHP3 NM_153240.4(NPHP3): c.1817G> A (p.Trp606Ter) single nucleotide variant Pathogenic rs182135982 GRCh38 Chromosome 3, 132699988: 132699988
19 NPHP3 NM_153240.4(NPHP3): c.988G> A (p.Glu330Lys) single nucleotide variant Likely pathogenic rs758498695 GRCh38 Chromosome 3, 132713256: 132713256
20 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) deletion Pathogenic rs756302731 GRCh37 Chromosome 12, 88476853: 88476854
21 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265
22 NPHP1 NM_000272.3(NPHP1): c.(?_-1)_(*1_?)del deletion Pathogenic
23 NPHP1 NM_000272.3(NPHP1): c.-94_*455del deletion Pathogenic GRCh38 Chromosome 2, 110123336: 110205062
24 INVS NM_014425.4(INVS): c.1417delG (p.Ala473Glnfs) deletion Pathogenic rs878855332 GRCh37 Chromosome 9, 103015371: 103015371
25 INVS NM_014425.4(INVS): c.3125delA (p.Asn1042Thrfs) deletion Pathogenic rs878855333 GRCh37 Chromosome 9, 103062883: 103062883
26 CEP290 NM_025114.3(CEP290): c.5707A> T (p.Glu1903Ter) single nucleotide variant Pathogenic rs878855334 GRCh37 Chromosome 12, 88471001: 88471001
27 GLIS2 NM_032575.2(GLIS2): c.775+1G> T single nucleotide variant Pathogenic rs878855335 GRCh38 Chromosome 16, 4335394: 4335394
28 NPHP1 2q13 deletion (290 kb) deletion Pathogenic
29 NPHP1 NM_000272.3(NPHP1): c.555dupA (p.Pro186Thrfs) duplication Pathogenic rs886042650 GRCh37 Chromosome 2, 110926098: 110926098
30 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh37 Chromosome 12, 88479815: 88479815
31 CEP290 NM_025114.3(CEP290): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs757641323 GRCh37 Chromosome 12, 88524986: 88524986
32 IQCB1 NM_001023570.3(IQCB1): c.897_900dupCTTG (p.Ile301Leufs) duplication Pathogenic rs745340459 GRCh38 Chromosome 3, 121795543: 121795546
33 NPHP3 NM_153240.4(NPHP3): c.3156dupA (p.Ser1053Ilefs) duplication Pathogenic rs771215577 GRCh38 Chromosome 3, 132687196: 132687196
34 INVS NC_000009.12: g.(?_100104498)_(100104627_?)del deletion Pathogenic GRCh37 Chromosome 9, 102866780: 102866909
35 CEP290 NM_025114.3(CEP290): c.4438-3delC deletion Likely pathogenic rs747323414 GRCh37 Chromosome 12, 88478632: 88478632
36 NPHP1 NC_000002.12: g.(?_110123771)_(110204988_?)del deletion Pathogenic GRCh38 Chromosome 2, 110123771: 110204988
37 NPHP1 NM_000272.3(NPHP1): c.1520+1delG deletion Pathogenic rs747861275 GRCh38 Chromosome 2, 110146752: 110146752
38 NPHP3 NM_153240.4(NPHP3): c.60C> G (p.Tyr20Ter) single nucleotide variant Pathogenic rs773521620 GRCh37 Chromosome 3, 132441140: 132441140
39 NPHP3 NM_153240.4(NPHP3): c.1985+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 132699352: 132699352
40 CEP290 NM_025114.3(CEP290): c.6358-1G> A single nucleotide variant Likely pathogenic rs766670248 GRCh37 Chromosome 12, 88454772: 88454772
41 CEP290 NM_025114.3(CEP290): c.5931_5935delACGAG (p.Arg1978Phefs) deletion Pathogenic GRCh38 Chromosome 12, 88071370: 88071374
42 CEP290 NM_025114.3(CEP290): c.5212G> T (p.Glu1738Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 88080196: 88080196
43 CEP290 NM_025114.3(CEP290): c.1474A> T (p.Lys492Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 88120162: 88120162
44 CEP290 NM_025114.3(CEP290): c.180+1G> A single nucleotide variant Likely pathogenic rs758593134 GRCh37 Chromosome 12, 88534732: 88534732

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 19)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.93 CEP164 CEP290 IQCB1 NPHP4 RPGRIP1L TMEM67
2 microtubule organizing center GO:0005815 9.88 CEP290 IQCB1 NPHP4 RPGRIP1L
3 centriole GO:0005814 9.81 CEP164 CEP290 CEP83 IQCB1
4 ciliary basal body GO:0036064 9.78 CEP290 IFT172 NPHP4 RPGRIP1L
5 cell projection GO:0042995 9.77 ANKS6 CEP290 IFT172 INPP5E INVS NEK8
6 bicellular tight junction GO:0005923 9.75 NPHP1 NPHP4 RPGRIP1L
7 axoneme GO:0005930 9.74 IFT172 INPP5E RPGRIP1L
8 photoreceptor connecting cilium GO:0032391 9.73 CEP290 IQCB1 NPHP1 NPHP4 RPGRIP1L WDR19
9 ciliary tip GO:0097542 9.7 IFT172 TTC21B WDR19
10 ciliary base GO:0097546 9.67 NEK8 NPHP3 NPHP4
11 ciliary transition zone GO:0035869 9.62 CEP290 NPHP4 RPGRIP1L TMEM67
12 non-motile cilium GO:0097730 9.61 GLIS2 NPHP4 WDR19
13 MKS complex GO:0036038 9.56 CEP290 TMEM67
14 ciliary transition fiber GO:0097539 9.55 CEP164 CEP83
15 intraciliary transport particle A GO:0030991 9.54 TTC21B WDR19
16 cilium GO:0005929 9.44 ANKS6 CEP290 IFT172 INPP5E INVS NEK8
17 ciliary inversin compartment GO:0097543 9.4 NEK8 NPHP3
18 cytoplasm GO:0005737 10.27 ANKS6 CEP164 CEP290 CEP83 GLIS2 INPP5E
19 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 kidney development GO:0001822 9.71 GLIS2 NPHP3 RPGRIP1L
2 cell projection organization GO:0030030 9.7 CEP164 CEP290 CEP83 IQCB1 NPHP1 TMEM67
3 smoothened signaling pathway GO:0007224 9.69 IFT172 TTC21B WDR19
4 non-motile cilium assembly GO:1905515 9.65 IFT172 NPHP3 RPGRIP1L
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 9.52 TTC21B WDR19
10 regulation of smoothened signaling pathway GO:0008589 9.5 IFT172 RPGRIP1L TTC21B
11 maintenance of animal organ identity GO:0048496 9.49 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

Sources for Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
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41 MeSH
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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