NPHP3
MCID: NPH031
MIFTS: 46

Nephronophthisis 3 (NPHP3)

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

Aliases & Classifications for Nephronophthisis 3

MalaCards integrated aliases for Nephronophthisis 3:

Name: Nephronophthisis 3 57 12 72 29 13 6 15 70
Nphp3 57 12 72
Nph3 57 12
Adolescent Nephronophthisis 72
Nephronophthisis, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
nephronophthisis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111114
OMIM® 57 604387
OMIM Phenotypic Series 57 PS256100
MeSH 44 D052177
MedGen 41 C1858392
UMLS 70 C1858392

Summaries for Nephronophthisis 3

UniProtKB/Swiss-Prot : 72 Nephronophthisis 3: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.

MalaCards based summary : Nephronophthisis 3, also known as nphp3, is related to meckel syndrome, type 7 and renal-hepatic-pancreatic dysplasia, and has symptoms including polydipsia, polyuria and secondary enuresis. An important gene associated with Nephronophthisis 3 is NPHP3 (Nephrocystin 3), and among its related pathways/superpathways are Circadian rhythm and Metabolic States and Circadian Oscillators. Affiliated tissues include kidney, liver and heart, and related phenotypes are polydipsia and renal insufficiency

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.

More information from OMIM: 604387 PS256100

Related Diseases for Nephronophthisis 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 7 32.8 NPHP3-AS1 NPHP3-ACAD11 NPHP3
2 renal-hepatic-pancreatic dysplasia 32.5 NPHP3-AS1 NPHP3-ACAD11 NPHP3
3 renal-hepatic-pancreatic dysplasia 1 32.0 NPHP3-AS1 NPHP3-ACAD11 NPHP3
4 infantile nephronophthisis 31.8 NPHP3-ACAD11 NPHP3
5 nephronophthisis 1 31.7 NXPH4 NPHP3 CRY2 CRY1
6 nephronophthisis 29.8 TMSB4X NXPH4 NPHP3-AS1 NPHP3-ACAD11 NPHP3 ACAD11
7 juvenile nephronophthisis 11.2
8 polycystic kidney disease 11.2
9 developmental and epileptic encephalopathy 44 11.1
10 cystic kidney disease 11.1
11 kidney disease 11.0
12 nephronophthisis 2 11.0
13 situs inversus 11.0
14 retinal degeneration 11.0
15 retinitis pigmentosa 11.0
16 joubert syndrome 1 10.9
17 meckel syndrome, type 1 10.9
18 spinocerebellar ataxia, autosomal recessive 24 10.9
19 nephronophthisis 9 10.8
20 nephronophthisis 16 10.8
21 caroli disease 10.8
22 leber plus disease 10.8
23 coloboma of macula 10.8
24 polycystic kidney disease 1 with or without polycystic liver disease 10.8
25 alstrom syndrome 10.8
26 coach syndrome 1 10.8
27 d-glyceric aciduria 10.8
28 polycystic kidney disease 4 with or without polycystic liver disease 10.8
29 senior-loken syndrome 1 10.8
30 renal dysplasia, cystic 10.8
31 meckel syndrome, type 3 10.8
32 joubert syndrome 3 10.8
33 meckel syndrome, type 4 10.8
34 nephronophthisis 7 10.8
35 meckel syndrome, type 6 10.8
36 joubert syndrome 8 10.8
37 ciliary dyskinesia, primary, 9 10.8
38 ciliary dyskinesia, primary, 10 10.8
39 nephronophthisis 11 10.8
40 nephronophthisis 12 10.8
41 meckel syndrome, type 8 10.8
42 nephronophthisis 13 10.8
43 nephronophthisis 14 10.8
44 nephronophthisis 15 10.8
45 joubert syndrome 22 10.8
46 nephronophthisis 18 10.8
47 nephronophthisis 19 10.8
48 kartagener syndrome 10.8
49 visceral heterotaxy 10.8
50 asphyxiating thoracic dystrophy 10.8

Graphical network of the top 20 diseases related to Nephronophthisis 3:



Diseases related to Nephronophthisis 3

Symptoms & Phenotypes for Nephronophthisis 3

Human phenotypes related to Nephronophthisis 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 polydipsia 31 HP:0001959
2 renal insufficiency 31 HP:0000083
3 hepatic fibrosis 31 HP:0001395
4 nephronophthisis 31 HP:0000090
5 enuresis 31 HP:0000805
6 renal tubular atrophy 31 HP:0000092
7 tubulointerstitial fibrosis 31 HP:0005576
8 polyuria 31 HP:0000103
9 renal corticomedullary cysts 31 HP:0000108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic Features:
polydipsia
polyuria

Genitourinary:
secondary enuresis

Laboratory Abnormalities:
no proteinuria
no hematuria

Abdomen Liver:
hepatic fibrosis

Genitourinary Kidneys:
interstitial fibrosis
tubular atrophy
corticomedullary cysts
median onset of renal failure 19 years
altered basement membrane

Clinical features from OMIM®:

604387 (Updated 20-May-2021)

UMLS symptoms related to Nephronophthisis 3:


polydipsia; polyuria; secondary enuresis

GenomeRNAi Phenotypes related to Nephronophthisis 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Chlamydia trachomatis serovar L2 infection and TNF-alpha/CHX stimulation GR00206-A 8.62 EIF5A SKP1

Drugs & Therapeutics for Nephronophthisis 3

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

Search NIH Clinical Center for Nephronophthisis 3

Genetic Tests for Nephronophthisis 3

Genetic tests related to Nephronophthisis 3:

# Genetic test Affiliating Genes
1 Nephronophthisis 3 29 NPHP3

Anatomical Context for Nephronophthisis 3

MalaCards organs/tissues related to Nephronophthisis 3:

40
Kidney, Liver, Heart, Prostate

Publications for Nephronophthisis 3

Articles related to Nephronophthisis 3:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 61 57 6
19303681 2009
2
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 61 57 6
12872122 2003
3
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. 6 57
10631142 2000
4
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. 6 61
28921755 2017
5
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 57 61
19177160 2009
6
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. 61 57
11752023 2002
7
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
8
Effect of dietary soy protein and genistein on disease progression in mice with polycystic kidney disease. 57
9428452 1998
9
Methylprednisolone retards the progression of inherited polycystic kidney disease in rodents. 57
7847359 1995
10
Effects of dietary protein restriction and oil type on the early progression of murine polycystic kidney disease. 57
1453579 1992
11
BIRC5, GAJ5, and lncRNA NPHP3-AS1 Are Correlated with the Development of Atrial Fibrillation-Valvular Heart Disease. 61
33518654 2021
12
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea. 61
33031055 2020
13
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy. 61
33323469 2020
14
Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology. 61
32714619 2020
15
Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis. 61
32173348 2020
16
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. 61
32341812 2020
17
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants. 61
31635528 2020
18
Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy. 61
31895004 2020
19
Diagnostic utility of whole-genome sequencing for nephronophthisis. 61
33024573 2020
20
Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China
. 61
31131822 2019
21
Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells. 61
31048733 2019
22
Synchronizing Protein Traffic to the Primary Cilium. 61
30906310 2019
23
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. 61
30002499 2018
24
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. 61
30269812 2018
25
Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case. 61
29869359 2018
26
The Inv compartment of renal cilia is an intraciliary signal-activating center to phosphorylate ANKS6. 61
29395339 2018
27
Isosorbide dinitrate in nephronophthisis treatment. 61
29575630 2018
28
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. 61
28392475 2017
29
Global analysis of H3K27me3 as an epigenetic marker in prostate cancer progression. 61
28403887 2017
30
Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans. 61
27461219 2016
31
Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3. 61
27481943 2016
32
Clinical and genetic characteristics of Japanese nephronophthisis patients. 61
26499951 2016
33
High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. 61
26184788 2016
34
The Function of Arf-like Proteins ARL2 and ARL3 in Photoreceptors. 61
26427472 2016
35
ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning. 61
25599650 2015
36
NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. 61
24776604 2014
37
Slp2-a controls renal epithelial cell size through regulation of Rap-ezrin signaling independently of Rab27. 61
24284068 2014
38
Renal cyclooxygenase products are higher and lipoxygenase products are lower in early disease in the pcy mouse model of adolescent nephronophthisis. 61
24178445 2014
39
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 61
23793029 2013
40
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. 61
23686967 2013
41
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. 61
21845392 2013
42
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. 61
23418306 2013
43
Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. 61
23438674 2013
44
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. 61
23569556 2013
45
Uncoordinated (UNC)119: coordinating the trafficking of myristoylated proteins. 61
23000199 2012
46
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 61
23188109 2012
47
3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. 61
22832925 2012
48
The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. 61
22687244 2012
49
Targeting of Nphp3 to the primary cilia is controlled by an N-terminal myristoylation site and coiled-coil domains. 61
22328406 2012
50
Inversin, Wnt signaling and primary cilia. 61
22206729 2012

Variations for Nephronophthisis 3

ClinVar genetic disease variations for Nephronophthisis 3:

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1079G>C (p.Ser360Thr) SNV Pathogenic 2633 rs119456960 GRCh37: 3:132432009-132432009
GRCh38: 3:132713165-132713165
2 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3608del (p.Ala1203fs) Deletion Pathogenic 403710 rs1060499938 GRCh37: 3:132402331-132402331
GRCh38: 3:132683487-132683487
3 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter) SNV Pathogenic 430726 rs771742823 GRCh37: 3:132438644-132438644
GRCh38: 3:132719800-132719800
4 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.520-1G>T SNV Pathogenic 812666 rs759262253 GRCh37: 3:132437989-132437989
GRCh38: 3:132719145-132719145
5 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) SNV Pathogenic 2634 rs119456961 GRCh37: 3:132423185-132423185
GRCh38: 3:132704341-132704341
6 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) SNV Pathogenic 635041 rs1485445500 GRCh37: 3:132427046-132427046
GRCh38: 3:132708202-132708202
7 NPHP3-AS1 , NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.372_376del (p.Lys124fs) Deletion Pathogenic 974440 GRCh37: 3:132440824-132440828
GRCh38: 3:132721980-132721984
8 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs) Duplication Pathogenic 591582 rs1559998795 GRCh37: 3:132400909-132400910
GRCh38: 3:132682065-132682066
9 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.430_433AAAG[1] (p.Glu145fs) Microsatellite Pathogenic 195423 rs763300393 GRCh37: 3:132438631-132438634
GRCh38: 3:132719787-132719790
10 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs) Deletion Pathogenic 659899 rs1576682880 GRCh37: 3:132431998-132432001
GRCh38: 3:132713154-132713157
11 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1943dup (p.Ile649fs) Duplication Pathogenic 974439 GRCh37: 3:132418238-132418239
GRCh38: 3:132699394-132699395
12 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2694-2_2694-1del Deletion Pathogenic 220868 rs751527253 GRCh37: 3:132408108-132408109
GRCh38: 3:132689264-132689265
13 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) SNV Pathogenic 216136 rs182135982 GRCh37: 3:132418832-132418832
GRCh38: 3:132699988-132699988
14 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3821_3823GAG[1] (p.Gly1275del) Microsatellite Pathogenic 2632 rs119456959 GRCh37: 3:132400921-132400923
GRCh38: 3:132682077-132682079
15 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) SNV Pathogenic 2640 rs267606916 GRCh37: 3:132415642-132415642
GRCh38: 3:132696798-132696798
16 NPHP3-AS1 , NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.326_328TGT[1] (p.Leu110del) Microsatellite Likely pathogenic 568513 rs753616848 GRCh37: 3:132440869-132440871
GRCh38: 3:132722025-132722027
17 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) SNV Likely pathogenic 974438 GRCh37: 3:132418778-132418778
GRCh38: 3:132699934-132699934
18 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) SNV Likely pathogenic 800889 rs1576660495 GRCh37: 3:132403562-132403562
GRCh38: 3:132684718-132684718
19 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs) Duplication Likely pathogenic 917950 GRCh37: 3:132403548-132403549
GRCh38: 3:132684704-132684705
20 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) SNV Likely pathogenic 96516 rs368138001 GRCh37: 3:132403595-132403595
GRCh38: 3:132684751-132684751
21 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2694-2del Deletion Uncertain significance 632398 rs1560002537 GRCh37: 3:132408109-132408109
GRCh38: 3:132689265-132689265
22 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1706C>A (p.Ser569Ter) SNV Uncertain significance 632399 rs1240851280 GRCh37: 3:132419215-132419215
GRCh38: 3:132700371-132700371
23 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.671-996C>G SNV Uncertain significance 812665 rs1042640244 GRCh37: 3:132436749-132436749
GRCh38: 3:132717905-132717905
24 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*692C>T SNV Uncertain significance 343362 rs886057997 GRCh37: 3:132400062-132400062
GRCh38: 3:132681218-132681218
25 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) SNV Uncertain significance 343388 rs576089202 GRCh37: 3:132420337-132420337
GRCh38: 3:132701493-132701493
26 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*139T>G SNV Uncertain significance 343371 rs886058001 GRCh37: 3:132400615-132400615
GRCh38: 3:132681771-132681771
27 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2571-12C>G SNV Uncertain significance 343384 rs886058003 GRCh37: 3:132409506-132409506
GRCh38: 3:132690662-132690662
28 NPHP3-AS1 , NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) SNV Uncertain significance 343392 rs200233813 GRCh37: 3:132440868-132440868
GRCh38: 3:132722024-132722024
29 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) SNV Uncertain significance 343377 rs886058002 GRCh37: 3:132405219-132405219
GRCh38: 3:132686375-132686375
30 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) SNV Uncertain significance 343383 rs751790371 GRCh37: 3:132408018-132408018
GRCh38: 3:132689174-132689174
31 NPHP3-AS1 , NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.208C>T (p.Leu70=) SNV Uncertain significance 343394 rs765533675 GRCh37: 3:132440992-132440992
GRCh38: 3:132722148-132722148
32 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*1078T>G SNV Uncertain significance 343356 rs886057996 GRCh37: 3:132399676-132399676
GRCh38: 3:132680832-132680832
33 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) SNV Uncertain significance 343380 rs777768843 GRCh37: 3:132407634-132407634
GRCh38: 3:132688790-132688790
34 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*46A>G SNV Uncertain significance 343373 rs530016526 GRCh37: 3:132400708-132400708
GRCh38: 3:132681864-132681864
35 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*784C>T SNV Uncertain significance 343360 rs376015619 GRCh37: 3:132399970-132399970
GRCh38: 3:132681126-132681126
36 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*1098C>T SNV Uncertain significance 343355 rs886057995 GRCh37: 3:132399656-132399656
GRCh38: 3:132680812-132680812
37 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.670+13C>T SNV Uncertain significance 262716 rs202228115 GRCh37: 3:132437825-132437825
GRCh38: 3:132718981-132718981
38 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*519C>T SNV Uncertain significance 343368 rs3891704 GRCh37: 3:132400235-132400235
GRCh38: 3:132681391-132681391
39 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*1121A>G SNV Uncertain significance 343354 rs576904017 GRCh37: 3:132399633-132399633
GRCh38: 3:132680789-132680789
40 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) SNV Uncertain significance 343374 rs766281273 GRCh37: 3:132400872-132400872
GRCh38: 3:132682028-132682028
41 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.*1020T>C SNV Uncertain significance 343357 rs186828918 GRCh37: 3:132399734-132399734
GRCh38: 3:132680890-132680890
42 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) SNV Uncertain significance 291194 rs190548695 GRCh37: 3:132400851-132400851
GRCh38: 3:132682007-132682007
43 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) SNV Uncertain significance 343382 rs144989330 GRCh37: 3:132407920-132407920
GRCh38: 3:132689076-132689076
44 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) SNV Uncertain significance 450392 rs146250226 GRCh37: 3:132432006-132432006
GRCh38: 3:132713162-132713162
45 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) SNV Uncertain significance 497874 rs149565564 GRCh37: 3:132433942-132433942
GRCh38: 3:132715098-132715098
46 NPHP3-AS1 , NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) SNV Uncertain significance 500896 rs369447363 GRCh37: 3:132441135-132441135
GRCh38: 3:132722291-132722291
47 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) SNV Uncertain significance 343382 rs144989330 GRCh37: 3:132407920-132407920
GRCh38: 3:132689076-132689076
48 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) SNV Uncertain significance 289555 rs116174472 GRCh37: 3:132408032-132408032
GRCh38: 3:132689188-132689188
49 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) SNV Uncertain significance 343389 rs138982161 GRCh37: 3:132427048-132427048
GRCh38: 3:132708204-132708204
50 NPHP3-ACAD11 , NPHP3 NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) SNV Uncertain significance 343385 rs563403703 GRCh37: 3:132415577-132415577
GRCh38: 3:132696733-132696733

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 3:

72
# Symbol AA change Variation ID SNP ID
1 NPHP3 p.Ser360Thr VAR_022815 rs119456960
2 NPHP3 p.Asn386Ser VAR_022816 rs142021049
3 NPHP3 p.Arg397His VAR_022817 rs755094682
4 NPHP3 p.Leu1141Pro VAR_022818 rs105752109
5 NPHP3 p.Ala1221Val VAR_022819 rs202048210
6 NPHP3 p.Ser1252Arg VAR_022820 rs143451766

Expression for Nephronophthisis 3

Search GEO for disease gene expression data for Nephronophthisis 3.

Pathways for Nephronophthisis 3

Pathways related to Nephronophthisis 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.43 SKP1 CRY2 CRY1
2
Show member pathways
10.03 CRY2 CRY1

GO Terms for Nephronophthisis 3

Cellular components related to Nephronophthisis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 polar microtubule GO:0005827 8.62 KLHL22 CUL3

Biological processes related to Nephronophthisis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 entrainment of circadian clock by photoperiod GO:0043153 9.46 CRY2 CRY1
2 response to light stimulus GO:0009416 9.43 CRY2 CRY1
3 lipid storage GO:0019915 9.4 CRY2 CRY1
4 protein-chromophore linkage GO:0018298 9.37 CRY2 CRY1
5 negative regulation of circadian rhythm GO:0042754 9.32 CRY2 CRY1
6 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.26 CRY2 CRY1
7 positive regulation of mitotic cell cycle phase transition GO:1901992 9.16 KLHL18 CUL3
8 negative regulation of glucocorticoid secretion GO:2000850 8.96 CRY2 CRY1
9 blue light signaling pathway GO:0009785 8.62 CRY2 CRY1

Molecular functions related to Nephronophthisis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear hormone receptor binding GO:0035257 9.32 CRY2 CRY1
2 photoreceptor activity GO:0009881 9.26 CRY2 CRY1
3 blue light photoreceptor activity GO:0009882 9.16 CRY2 CRY1
4 DNA (6-4) photolyase activity GO:0003914 8.96 CRY2 CRY1
5 deoxyribodipyrimidine photo-lyase activity GO:0003904 8.62 CRY2 CRY1

Sources for Nephronophthisis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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