NPH
MCID: NPH005
MIFTS: 58

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 74 24 52 25 58 36 29 6 15 39 71
Medullary Cystic Disease 12 74 71
Medullary Cystic Kidney 12 54 32
Nph 24 25
Kidney Disease, Cystic, Medullary 39
Medullary Cystic Kidney Disease 36
Nphp 25

Characteristics:

Orphanet epidemiological data:

58
nephronophthisis
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:12712
NCIt 49 C123200
ICD10 32 Q61.5
ICD10 via Orphanet 33 Q61.5
UMLS via Orphanet 72 C0687120
Orphanet 58 ORPHA655
UMLS 71 C0687120 C2939174

Summaries for Nephronophthisis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 655 Definition A chronic tubulointerstitial nephropathy that progresses to end-stage renal failure. Epidemiology Prevalence is 1/100 000 individuals. Clinical description The 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. Etiology Five genes associated with the disease have been identified. The first gene, NPHP1 , has been mapped to chromosome 2q13. Homozygous deletions 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 diagnosis Antenatal diagnosis can be performed when the mutation has been identified in one child of the family. Genetic counseling Nephronophthisis is inherited in an autosomal recessive manner. Management and treatment At 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 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. Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent). About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus). Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.

KEGG : 36 Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The outcome of these diseases is end-stage renal disease. Multiple signaling pathways are altered because of mutated cilia genes.

Wikipedia : 74 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 290)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 35.5 NPHP4 NPHP3 NPHP1 INVS
2 nephronophthisis 2 35.4 XPNPEP3 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
3 nephronophthisis 11 35.4 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
4 nephronophthisis 15 35.4 ZNF423 NPHP4 NPHP1 NEK8 INVS GLIS2
5 nephronophthisis 9 35.4 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 NEK8
6 nephronophthisis 19 35.3 XPNPEP3 TMEM67 NPHP4 NPHP3 NPHP1 INVS
7 nephronophthisis 16 35.3 WDR19 NPHP4 NPHP3 NPHP1 NEK8 IQCB1
8 nephronophthisis 7 35.3 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 NEK8
9 nephronophthisis 13 35.3 WDR19 TTC21B NPHP4 NPHP3 NPHP1 NEK8
10 nephronophthisis 18 35.3 TTC21B NPHP3 NPHP1 NEK8 INVS CEP83
11 juvenile nephronophthisis 35.3 WDR19 NPHP4 NPHP3 NPHP1 MAPKBP1 IQCB1
12 nephronophthisis 14 35.3 ZNF423 TMEM67 NPHP4 NPHP1 NEK8 IQCB1
13 nephronophthisis 12 35.3 WDR19 TTC21B NPHP4 NPHP3 NPHP1 NEK8
14 nephronophthisis-like nephropathy 1 35.1 XPNPEP3 NPHP1
15 nephronophthisis 20 35.1 MAPKBP1 CEP164
16 infantile nephronophthisis 34.9 ZNF423 TTC21B NPHP4 NPHP3 NEK8 INVS
17 senior-loken syndrome 1 34.8 XPNPEP3 WDR19 TTC21B TMEM67 NPHP4 NPHP3
18 nephronophthisis 3 34.8 NPHP3-ACAD11 NPHP3
19 nephronophthisis 4 34.7 NPHP4 NPHP1
20 late-onset nephronophthisis 34.4 XPNPEP3 NPHP3 MAPKBP1
21 cranioectodermal dysplasia 1 33.8 XPNPEP3 WDR19 TTC21B TMEM67 NPHP4 NPHP1
22 joubert syndrome 1 33.8 ZNF423 WDR19 TTC21B TMEM67 NPHP4 NPHP3
23 arima syndrome 33.5 ZNF423 CEP290
24 senior-boichis syndrome 33.4 TMEM67 DCDC2
25 joubert syndrome 5 33.4 TMEM67 NPHP1 CEP290
26 cystic kidney disease 32.5 XPNPEP3 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
27 end stage renal failure 32.4 XPNPEP3 MAPKBP1 CEP164 ANKS6
28 kidney disease 32.3 TMEM67 NPHP4 NPHP1 NEK8 CEP290
29 ciliopathy 32.3 WDR19 TTC21B TMEM67 NPHP4
30 retinal degeneration 32.2 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IFT172
31 retinitis pigmentosa 32.2 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
32 polycystic kidney disease 32.1 TMEM67 NPHP3 NEK8 INVS ANKS6
33 leber congenital amaurosis 31.8 ZNF423 TTC21B TMEM67 NPHP4 NPHP3-ACAD11 NPHP3
34 congenital hepatic fibrosis 31.8 TMEM67 ANKS6
35 apraxia 31.8 TMEM67 NPHP1 CEP290
36 fundus dystrophy 31.8 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
37 meckel syndrome, type 3 31.7 TMEM67 NPHP4 NPHP3 NPHP1 INVS CEP290
38 bardet-biedl syndrome 31.7 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
39 polycystic kidney disease 4 with or without polycystic liver disease 31.7 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 NEK8
40 interstitial nephritis 31.7 MAPKBP1 INVS CEP164 ANKS6
41 joubert syndrome 4 31.7 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 CEP290
42 meckel syndrome, type 1 31.7 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
43 coloboma of macula 31.5 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
44 joubert syndrome 24 31.4 NPHP1 CEP290 CEP164
45 caroli disease 31.3 WDR19 NPHP3 NPHP1 INVS
46 polycystic kidney disease 1 with or without polycystic liver disease 31.3 NPHP3 NEK8 INVS
47 cogan syndrome 31.3 NPHP4 NPHP1 CEP290
48 short-rib thoracic dysplasia 1 with or without polydactyly 31.3 WDR19 TTC21B TMEM67 NPHP1 INVS IFT172
49 joubert syndrome 6 31.3 TMEM67 NPHP1 CEP290
50 asphyxiating thoracic dystrophy 31.2 WDR19 TTC21B NPHP4 IFT172

Graphical network of the top 20 diseases related to Nephronophthisis:



Diseases related to Nephronophthisis

Symptoms & Phenotypes for Nephronophthisis

Human phenotypes related to Nephronophthisis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
2 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
3 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903

MGI Mouse Phenotypes related to Nephronophthisis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 CEP290 GLIS2 IFT172 INVS NPHP1 NPHP3
2 cardiovascular system MP:0005385 10.06 ANKS6 CEP290 CEP83 IFT172 INVS NEK8
3 growth/size/body region MP:0005378 9.93 ANKS6 CEP290 CEP83 IFT172 INVS IQCB1
4 craniofacial MP:0005382 9.87 CEP290 IFT172 NPHP3 TMEM67 TTC21B WDR19
5 embryo MP:0005380 9.86 ANKS6 CEP83 IFT172 INVS NPHP3 TMEM67
6 mortality/aging MP:0010768 9.77 ANKS6 CEP164 CEP290 CEP83 GLIS2 IFT172
7 renal/urinary system MP:0005367 9.32 CEP290 GLIS2 IFT172 INVS NEK8 NPHP1

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 Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis Completed NCT01022957
2 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
4 An Observational, Clinical Study to Collect the Medical Data in Order to Determine the Craniofacial Characteristics Through Phenotypic Analysis on Children With Sensenbrenner Treated/Followed at the Hôpital Femme Mère Enfant From 2005 Not yet recruiting NCT04184531

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:

40
Kidney, Liver, Bone, Eye, Heart, T Cells, Testes

Publications for Nephronophthisis

Articles related to Nephronophthisis:

(show top 50) (show all 900)
# Title Authors PMID Year
1
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 61 24 6
24882706 2014
2
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 61 24 6
23793029 2013
3
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 61 24 6
23559409 2013
4
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 61 24 6
22019273 2011
5
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 61 24 6
21258341 2011
6
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 61 24 6
20179356 2010
7
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 61 24 6
19303681 2009
8
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 61 24 6
19177160 2009
9
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. 61 24 6
17618285 2007
10
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 61 24 6
15138899 2004
11
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 61 24 6
12872122 2003
12
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 61 24 6
12872123 2003
13
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 61 24 6
12244321 2002
14
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 61 24 6
10839884 2000
15
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. 61 24 6
10712196 2000
16
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. 61 24 6
10631142 2000
17
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 61 24 6
9856524 1998
18
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. 61 24 6
9326933 1997
19
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? 61 24 6
2702088 1989
20
Nephronophthisis 61 6
27336129 2016
21
The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. 61 6
23026745 2012
22
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. 61 6
18199800 2008
23
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 61 6
16155189 2006
24
Joubert Syndrome 61 6
20301500 2003
25
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. 61 6
8852662 1996
26
Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 61 24
26940125 2017
27
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 61 24
26673778 2016
28
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 61 24
26489029 2016
29
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. 61 24
26275418 2015
30
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. 61 24
26487268 2015
31
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 61 24
25726036 2015
32
Are renal ciliopathies (replication) stressed out? 61 24
25937400 2015
33
Nephronophthisis and related syndromes. 61 24
25635582 2015
34
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 61 24
25557784 2015
35
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. 61 24
24722439 2014
36
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 61 24
24876116 2014
37
Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. 61 24
25340510 2014
38
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. 61 24
24610927 2014
39
Early presentation of cystic kidneys in a family with a homozygous INVS mutation. 61 24
24677454 2014
40
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. 61 24
24746959 2014
41
From the radiologic pathology archives: pediatric polycystic kidney disease and other ciliopathies: radiologic-pathologic correlation. 61 24
24428289 2014
42
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series. 61 24
25126106 2014
43
BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 61 24
23943788 2014
44
The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly. 61 24
24026243 2013
45
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies. 61 24
23973373 2013
46
Current insights into renal ciliopathies: what can genetics teach us? 61 24
22829176 2013
47
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. 61 24
23418306 2013
48
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. 61 24
23661805 2013
49
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. 61 24
22982934 2012
50
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 61 24
22863007 2012

Variations for Nephronophthisis

ClinVar genetic disease variations for Nephronophthisis:

6 (show top 50) (show all 729) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs)duplication Pathogenic 156386 rs587783017 12:88449443-88449444 12:88055666-88055667
2 IQCB1 NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)SNV Pathogenic 167197 rs727503968 3:121508959-121508959 3:121790112-121790112
3 CEP290 NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs)short repeat Pathogenic 217632 rs756302731 12:88476853-88476854 12:88083076-88083077
4 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
5 CEP290 NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs)short repeat Pathogenic 217628 rs780624853 12:88478612-88478615 12:88084835-88084838
6 CEP290 NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
7 CEP290 NM_025114.3(CEP290):c.2112delA (p.Val705Leufs)deletion Pathogenic 217627 rs863225183 12:88505576-88505576 12:88111799-88111799
8 CEP290 NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs)deletion Pathogenic 217622 rs727503855 12:88512305-88512305 12:88118528-88118528
9 NPHP3 NM_153240.5(NPHP3):c.2694-2_2694-1deldeletion Pathogenic 220868 rs751527253 3:132408108-132408109 3:132689264-132689265
10 NPHP1 NM_000272.3(NPHP1):c.(?_-1)_(*1_?)deldeletion Pathogenic 224960
11 CEP290 NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
12 CEP290 NM_025114.3(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
13 IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 1830 rs121918244 3:121500619-121500619 3:121781772-121781772
14 IQCB1 NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)deletion Pathogenic 1831 rs750962965 3:121527825-121527826 3:121808978-121808979
15 NPHP3 NM_153240.5(NPHP3):c.3821_3823GAG[1] (p.Gly1275del)short repeat Pathogenic 2632 rs119456959 3:132400921-132400923 3:132682077-132682079
16 NPHP3 NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)SNV Pathogenic 2640 rs267606916 3:132415642-132415642 3:132696798-132696798
17 NPHP4 NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter)SNV Pathogenic 3400 rs137852919 1:5947454-5947454 1:5887394-5887394
18 NPHP4 NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)SNV Pathogenic 3404 rs137852922 1:5947496-5947496 1:5887436-5887436
19 NPHP4 NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)SNV Pathogenic 3405 rs137852923 1:5964848-5964848 1:5904788-5904788
20 NPHP1 NM_000272.4(NPHP1):c.80T>A (p.Leu27Ter)SNV Pathogenic 3509 rs121907898 2:110959061-110959061 2:110201484-110201484
21 NPHP1 NM_000272.4(NPHP1):c.1027G>A (p.Gly343Arg)SNV Pathogenic 3510 rs121907899 2:110920625-110920625 2:110163048-110163048
22 INVS NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)SNV Pathogenic 11962 rs200844390 9:103055234-103055234 9:100292952-100292952
23 IQCB1 NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)SNV Pathogenic 30778 rs373909351 3:121491506-121491506 3:121772659-121772659
24 IQCB1 NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)SNV Pathogenic 30779 rs387907009 3:121509013-121509013 3:121790166-121790166
25 TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)SNV Pathogenic 30935 rs140511594 2:166797621-166797621 2:165941111-165941111
26 CEP290 NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter)SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488
27 CEP290 NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs)deletion Pathogenic 56738 rs386834157 12:88530474-88530477 12:88136697-88136700
28 CEP290 NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs)deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
29 TMEM67 NM_001142301.1(TMEM67):c.512T>C (p.Met171Thr)SNV Pathogenic 1387 rs202149403 8:94792861-94792861 8:93780633-93780633
30 CEP290 NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs)duplication Pathogenic 99850 rs62640570 12:88487680-88487681 12:88093903-88093904
31 CEP290 NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs)short repeat Pathogenic 99861 rs62638180 12:88465596-88465600 12:88071819-88071823
32 GLIS2 NM_001318918.1(GLIS2):c.523T>C (p.Cys175Arg)SNV Pathogenic 127160 rs587777353 16:4385061-4385061 16:4335060-4335060
33 CEP290 NM_025114.3(CEP290):c.2052+1_2052+2delGTdeletion Pathogenic 236466 rs747835249 12:88508195-88508196 12:88114418-88114419
34 NPHP1 NM_000272.3(NPHP1):c.-94_*455deldeletion Pathogenic 237627 2:110880913-110962639 2:110123336-110205062
35 INVS NM_014425.5(INVS):c.3125del (p.Asn1042fs)deletion Pathogenic 242359 rs878855333 9:103062882-103062882 9:100300600-100300600
36 CEP290 NM_025114.3(CEP290):c.5707A>T (p.Glu1903Ter)SNV Pathogenic 242362 rs878855334 12:88471001-88471001 12:88077224-88077224
37 GLIS2 NM_001318918.1(GLIS2):c.775+1G>TSNV Pathogenic 242364 rs878855335 16:4385395-4385395 16:4335394-4335394
38 NPHP1 2q13 deletion (290 kb)deletion Pathogenic 242361
39 INVS NM_014425.5(INVS):c.1417del (p.Ala473fs)deletion Pathogenic 242358 rs878855332 9:103015370-103015370 9:100253088-100253088
40 CEP290 NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter)SNV Pathogenic 279751 rs780225183 12:88508313-88508313 12:88114536-88114536
41 NPHP1 NM_000272.4(NPHP1):c.555dup (p.Pro186fs)duplication Pathogenic 283524 rs766524637 2:110926097-110926098 2:110168520-110168521
42 CEP290 NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs)short repeat Pathogenic 286074 rs886043303 12:88513898-88513901 12:88120121-88120124
43 IQCB1 NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)duplication Pathogenic 403963 rs745340459 3:121514389-121514390 3:121795542-121795543
44 NPHP3 NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs)duplication Pathogenic 411105 rs771215577 3:132406039-132406040 3:132687195-132687196
45 INVS NC_000009.11:g.(?_102866780)_(102866909_?)deldeletion Pathogenic 417554 9:102866780-102866909 9:100104498-100104627
46 CEP290 NM_025114.3(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
47 NPHP1 NC_000002.11:g.(?_110881348)_(110962565_?)deldeletion Pathogenic 462702 2:110123771-110204988
48 NPHP1 NM_000272.4(NPHP1):c.1520+1deldeletion Pathogenic 462705 rs747861275 2:110904329-110904329 2:110146752-110146752
49 NPHP3 NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter)SNV Pathogenic 462730 rs773521620 3:132441140-132441140 3:132722296-132722296
50 NPHP3 NM_153240.5(NPHP3):c.1985+1G>ASNV Pathogenic 462725 rs1553773271 3:132418196-132418196 3:132699352-132699352

Copy number variations for Nephronophthisis from CNVD:

7
# CNVD ID Chromosome 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 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 XPNPEP3 WDR19 TTC21B TMEM67 NPHP4 NPHP1
2 cell projection GO:0042995 9.93 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
3 microtubule organizing center GO:0005815 9.91 NPHP4 NEK8 IQCB1 DCDC2 CEP290
4 centrosome GO:0005813 9.88 TMEM67 NPHP4 NEK8 IQCB1 CEP290 CEP164
5 cytoskeleton GO:0005856 9.77 WDR19 TTC21B TMEM67 NPHP4 NPHP1 NEK8
6 centriole GO:0005814 9.76 IQCB1 CEP83 CEP290 CEP164
7 ciliary basal body GO:0036064 9.72 NPHP4 IFT172 CEP290
8 ciliary tip GO:0097542 9.65 WDR19 TTC21B IFT172
9 photoreceptor connecting cilium GO:0032391 9.65 WDR19 NPHP4 NPHP1 IQCB1 CEP290
10 ciliary transition zone GO:0035869 9.62 TMEM67 NPHP4 NPHP1 CEP290
11 non-motile cilium GO:0097730 9.61 WDR19 NPHP4 GLIS2
12 MKS complex GO:0036038 9.54 TMEM67 CEP290
13 ciliary transition fiber GO:0097539 9.52 CEP83 CEP164
14 intraciliary transport particle A GO:0030991 9.49 WDR19 TTC21B
15 cilium GO:0005929 9.4 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 WDR19 TMEM67 NPHP1 IQCB1 DCDC2 CEP83
2 determination of left/right symmetry GO:0007368 9.65 NPHP3 NEK8 IFT172
3 smoothened signaling pathway GO:0007224 9.63 WDR19 TTC21B IFT172
4 regulation of smoothened signaling pathway GO:0008589 9.51 TTC21B IFT172
5 intraciliary transport involved in cilium assembly GO:0035735 9.5 WDR19 TTC21B IFT172
6 ciliary basal body-plasma membrane docking GO:0097711 9.5 TMEM67 NPHP4 NPHP1 IQCB1 CEP83 CEP290
7 intraciliary retrograde transport GO:0035721 9.49 WDR19 TTC21B
8 positive regulation of bicellular tight junction assembly GO:1903348 9.43 NPHP4 NPHP1
9 photoreceptor cell maintenance GO:0045494 9.43 NPHP4 NPHP3 IQCB1
10 maintenance of animal organ identity GO:0048496 9.4 NPHP3 IQCB1
11 visual behavior GO:0007632 9.37 NPHP4 NPHP1
12 cilium assembly GO:0060271 9.28 WDR19 TMEM67 NPHP3 IQCB1 IFT172 DCDC2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.62 ZNF423 XPNPEP3 WDR19 TTC21B TMEM67 NPHP4

Sources for Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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