NPH
MCID: NPH005
MIFTS: 56

Nephronophthisis (NPH)

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

Aliases & Classifications for Nephronophthisis

MalaCards integrated aliases for Nephronophthisis:

Name: Nephronophthisis 12 76 24 53 25 59 37 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
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 13. 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 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 : 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 140)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 34.4 INVS NPHP1 NPHP3 NPHP4
2 nephronophthisis 13 34.2 GLIS2 INVS NPHP1 WDR19
3 nephronophthisis 4 34.2 NPHP1 NPHP4
4 nephronophthisis-like nephropathy 1 34.2 NPHP1 XPNPEP3
5 nephronophthisis 2 34.1 INVS IQCB1 NEK8 NPHP1 NPHP3 NPHP4
6 nephronophthisis 3 34.1 NPHP1 NPHP3
7 nephronophthisis 15 34.1 CEP164 CEP83 INVS
8 nephronophthisis 11 34.0 CEP290 IQCB1 NPHP1 NPHP3 NPHP4 RPGRIP1L
9 nephronophthisis 14 34.0 NPHP4 ZNF423
10 nephronophthisis 16 34.0 ANKS6 CEP290 IQCB1 NPHP1
11 nephronophthisis 7 34.0 GLIS2 INVS NPHP1 WDR19
12 nephronophthisis 9 33.9 ANKS6 INVS NEK8 NPHP1 NPHP3 NPHP4
13 juvenile nephronophthisis 33.9 ANKS6 GLIS2 INVS IQCB1 MAPKBP1 NPHP1
14 nephronophthisis 18 33.9 CEP83 INVS IQCB1 NEK8 NPHP1 NPHP3
15 nephronophthisis 19 33.8 NPHP1 NPHP4 TMEM67 UMOD
16 infantile nephronophthisis 33.7 ANKS6 CEP83 INVS NEK8 NPHP3 NPHP4
17 late-onset nephronophthisis 33.4 MAPKBP1 NPHP3 XPNPEP3
18 senior-loken syndrome 1 33.3 CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
19 hyperuricemic nephropathy, familial juvenile, 1 32.5 NPHP1 UMOD
20 joubert syndrome with oculorenal anomalies 32.4 CEP290 ZNF423
21 joubert syndrome with renal anomalies 31.2 NPHP1 RPGRIP1L
22 kidney disease 31.0 CEP290 NEK8 NPHP1 TMEM67 UMOD
23 congenital hepatic fibrosis 30.8 RPGRIP1L TMEM67
24 cystic kidney disease 30.6 ANKS6 INVS NEK8 NPHP1 NPHP3 NPHP4
25 joubert syndrome 1 30.5 CEP164 CEP290 IFT172 INVS IQCB1 NPHP1
26 retinitis pigmentosa 30.4 CEP290 IFT172 INVS IQCB1 NPHP1 NPHP3
27 leber congenital amaurosis 30.1 CEP164 CEP290 IQCB1 NPHP1 NPHP3 NPHP4
28 interstitial nephritis 30.1 ANKS6 INVS UMOD
29 fundus dystrophy 29.9 CEP290 IQCB1 NPHP1
30 medullary cystic kidney disease 2 12.9
31 nephronophthisis 12 12.4
32 nephronophthisis 20 12.3
33 autosomal dominant tubulointerstitial kidney disease, muc1-related 12.1
34 hydrocephalus, normal-pressure 12.1
35 autosomal dominant tubulointerstitial kidney disease, umod-related 12.0
36 nephronophthisis familial adult spastic quadriparesis 11.9
37 adult familial nephronophthisis-spastic quadriparesia syndrome 11.9
38 rhyns syndrome 11.7
39 medullary cystic kidney disease 1 11.5
40 uromodulin-associated kidney disease 11.3
41 senior-boichis syndrome 11.3
42 ocular motor apraxia 11.3
43 arima syndrome 11.3
44 focal segmental glomerulosclerosis 2 11.2
45 cranioectodermal dysplasia 1 11.1
46 senior-loken syndrome 5 11.1
47 cranioectodermal dysplasia 3 11.1
48 cranioectodermal dysplasia 4 11.1
49 senior-loken syndrome 9 11.1
50 nephrotic syndrome, type 1 11.0

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 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
2 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
3 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903

MGI Mouse Phenotypes related to Nephronophthisis:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 CEP290 GLIS2 IFT172 INVS NPHP1 NPHP3
2 growth/size/body region MP:0005378 10.21 ANKS6 CEP290 IFT172 INVS NEK8 NPHP3
3 cardiovascular system MP:0005385 10.16 ANKS6 CEP290 IFT172 INVS NEK8 NPHP3
4 homeostasis/metabolism MP:0005376 10.14 CEP290 GLIS2 IFT172 INVS MAPKBP1 NEK8
5 mortality/aging MP:0010768 10.1 ANKS6 CEP164 CEP290 GLIS2 IFT172 INVS
6 craniofacial MP:0005382 10.08 CEP290 IFT172 NPHP3 RPGRIP1L TMEM67 TTC21B
7 embryo MP:0005380 10.06 ANKS6 IFT172 INVS NPHP3 RPGRIP1L TMEM67
8 nervous system MP:0003631 9.96 CEP290 IFT172 NPHP1 NPHP3 NPHP4 RPGRIP1L
9 renal/urinary system MP:0005367 9.93 CEP290 GLIS2 IFT172 INVS NEK8 NPHP1
10 limbs/digits/tail MP:0005371 9.85 IFT172 MAPKBP1 RPGRIP1L TMEM67 TTC21B WDR19
11 respiratory system MP:0005388 9.5 ANKS6 CEP290 IFT172 INVS NEK8 RPGRIP1L
12 skeleton MP:0005390 9.28 CEP290 IFT172 MAPKBP1 NPHP3 RPGRIP1L TMEM67

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 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 Somatosensory Modulation of Salivary Gene Expression and Oral Feeding in Preterm Infants Recruiting NCT02696343 Not Applicable
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 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 319)
# 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
Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. ( 29991045 )
2018
11
Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies. ( 30071318 )
2018
12
Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. ( 30087219 )
2018
13
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. ( 30111592 )
2018
14
Using zebrafish to study the function of nephronophthisis and related ciliopathy genes. ( 30254740 )
2018
15
Nephronophthisis with brown tumor: Old and new problems. ( 28786156 )
2017
16
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. ( 28392475 )
2017
17
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. ( 28921755 )
2017
18
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. ( 29146700 )
2017
19
Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. ( 29379777 )
2017
20
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28089251 )
2017
21
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138 )
2017
22
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28157543 )
2017
23
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis. ( 27053712 )
2016
24
CaMKII as a Pathological Mediator of ER stress, Oxidative Stress and Mitochondrial Dysfunction in a Murine Model of Nephronophthisis. ( 27076647 )
2016
25
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
26
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. ( 26673778 )
2016
27
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ( 27491411 )
2016
28
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. ( 27515926 )
2016
29
Nephronophthisis and related syndromes. ( 25635582 )
2015
30
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
31
Anks3 interacts with nephronophthisis proteins and is required for normal renal development. ( 25671767 )
2015
32
Clinical and genetic characteristics of Japanese nephronophthisis patients. ( 26499951 )
2015
33
Nephronophthisis: should we target cysts or fibrosis? ( 26219413 )
2015
34
A high mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. ( 26184788 )
2015
35
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. ( 26083374 )
2015
36
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
37
Identification of an NPHP1 deletion causing adult form of nephronophthisis. ( 26037636 )
2015
38
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. ( 25851290 )
2015
39
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. ( 26374130 )
2015
40
Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats. ( 26619107 )
2015
41
Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition. ( 25340510 )
2014
42
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. ( 24610927 )
2014
43
A family with five siblings affected with nephronophthisis. ( 24821164 )
2014
44
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. ( 24946806 )
2014
45
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014
46
Nephronophthisis and Retinal Degeneration in Tmem218-/- Mice: A Novel Mouse Model for Senior-LA,ken Syndrome? ( 25161209 )
2014
47
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding. ( 25401970 )
2014
48
Renal Cyclooxygenase Products are Higher and Lipoxygenase Products are Lower in Early Disease in the pcy Mouse Model of Adolescent Nephronophthisis. ( 24178445 )
2014
49
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds. ( 23998563 )
2014
50
Nephronophthisis. ( 27625867 )
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.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
10 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
11 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh37 Chromosome 8, 94792861: 94792861
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 INVS NM_014425.4(INVS): c.1235-5T> C single nucleotide variant Benign rs2245216 GRCh37 Chromosome 9, 103015184: 103015184
45 INVS NM_014425.4(INVS): c.1235-5T> C single nucleotide variant Benign rs2245216 GRCh38 Chromosome 9, 100252902: 100252902
46 INVS NM_014425.4(INVS): c.1948G> C (p.Ala650Pro) single nucleotide variant Benign rs147452898 GRCh37 Chromosome 9, 103046765: 103046765
47 INVS NM_014425.4(INVS): c.1948G> C (p.Ala650Pro) single nucleotide variant Benign rs147452898 GRCh38 Chromosome 9, 100284483: 100284483
48 INVS NM_014425.4(INVS): c.2412T> C (p.Ser804=) single nucleotide variant Benign rs2787374 GRCh37 Chromosome 9, 103054951: 103054951
49 INVS NM_014425.4(INVS): c.2412T> C (p.Ser804=) single nucleotide variant Benign rs2787374 GRCh38 Chromosome 9, 100292669: 100292669
50 INVS NM_014425.4(INVS): c.725C> T (p.Ser242Leu) single nucleotide variant Benign rs2491097 GRCh37 Chromosome 9, 103002451: 103002451

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 16)
# 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 9.86 CEP290 IQCB1 NPHP4 RPGRIP1L
3 centriole GO:0005814 9.78 CEP164 CEP290 CEP83 IQCB1
4 cell projection GO:0042995 9.77 ANKS6 CEP290 IFT172 INVS NEK8 NPHP1
5 ciliary basal body GO:0036064 9.76 CEP290 IFT172 NPHP4 RPGRIP1L
6 bicellular tight junction GO:0005923 9.72 NPHP1 NPHP4 RPGRIP1L
7 ciliary tip GO:0097542 9.67 IFT172 TTC21B WDR19
8 photoreceptor connecting cilium GO:0032391 9.63 CEP290 IQCB1 NPHP1 NPHP4 RPGRIP1L WDR19
9 ciliary transition zone GO:0035869 9.62 CEP290 NPHP4 RPGRIP1L TMEM67
10 non-motile cilium GO:0097730 9.61 GLIS2 NPHP4 WDR19
11 MKS complex GO:0036038 9.54 CEP290 TMEM67
12 ciliary transition fiber GO:0097539 9.52 CEP164 CEP83
13 intraciliary transport particle A GO:0030991 9.51 TTC21B WDR19
14 cilium GO:0005929 9.44 ANKS6 CEP290 IFT172 INVS NEK8 NPHP1
15 cytoplasm GO:0005737 10.27 ANKS6 CEP164 CEP290 CEP83 GLIS2 INVS
16 cytoskeleton GO:0005856 10.07 CEP164 CEP290 CEP83 INVS IQCB1 MAPKBP1

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 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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