NPHP4
MCID: NPH032
MIFTS: 46

Nephronophthisis 4 (NPHP4)

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

Aliases & Classifications for Nephronophthisis 4

MalaCards integrated aliases for Nephronophthisis 4:

Name: Nephronophthisis 4 57 12 72 29 13 6 15 70
Nphp4 57 12 72
Juvenile Nephronophthisis 4 12 72
Nephronophthisis 4, Juvenile 57
Nephronophthisis, Type 4 39

Characteristics:

OMIM®:

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

Miscellaneous:
allelic to senior-loken syndrome 4


HPO:

31
nephronophthisis 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111115
OMIM® 57 606966
OMIM Phenotypic Series 57 PS256100
MeSH 44 D052177
MedGen 41 C1847013
UMLS 70 C1847013

Summaries for Nephronophthisis 4

UniProtKB/Swiss-Prot : 72 Nephronophthisis 4: An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.

MalaCards based summary : Nephronophthisis 4, also known as nphp4, is related to cogan syndrome and senior-loken syndrome 1, and has symptoms including polydipsia and polyuria. An important gene associated with Nephronophthisis 4 is NPHP4 (Nephrocystin 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include kidney, liver and eye, and related phenotypes are polydipsia and anemia

Disease Ontology : 12 A nephronophthisis that has material basis in mutation in the NPHP4 gene on chromosome 1p36.31.

More information from OMIM: 606966 PS256100

Related Diseases for Nephronophthisis 4

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 cogan syndrome 31.9 NPHP4 NPHP1
2 senior-loken syndrome 1 31.7 RPGRIP1 NPHP4 NPHP1
3 retinal aplasia 31.7 NPHP4 NPHP1
4 joubert syndrome 15 31.6 NPHP4 NPHP1
5 nephronophthisis 13 31.6 NPHP4 NPHP1
6 nephronophthisis 18 31.6 NPHP4 NPHP1
7 cone-rod dystrophy 1 31.6 RPGRIP1 NPHP4
8 nephronophthisis 7 31.6 NPHP4 NPHP1
9 cone-rod dystrophy 13 31.6 RPGRIP1 NPHP4
10 nephronophthisis 15 31.6 NPHP4 NPHP1
11 nephronophthisis 11 31.6 NPHP4 NPHP1
12 nephronophthisis 16 31.6 NPHP4 NPHP1
13 meckel syndrome, type 2 31.6 NPHP4 NPHP1
14 nephronophthisis 14 31.6 NPHP4 NPHP1
15 leber congenital amaurosis 3 31.6 RPGRIP1 NPHP4
16 nephronophthisis 19 31.5 NPHP4 NPHP1
17 nephronophthisis 12 31.5 NPHP4 NPHP1
18 renal-hepatic-pancreatic dysplasia 31.5 NPHP4 NPHP1
19 meckel syndrome, type 5 31.5 NPHP4 NPHP1
20 nephronophthisis 9 31.5 NPHP4 NPHP1
21 tubulointerstitial kidney disease, autosomal dominant, 1 31.5 NPHP4 NPHP1
22 meckel syndrome, type 3 31.4 NPHP4 NPHP1
23 meckel syndrome, type 4 31.4 NPHP4 NPHP1
24 retinal degeneration 31.4 RPGRIP1 NPHP4 NPHP1 GUCA1B
25 polycystic liver disease 1 with or without kidney cysts 31.4 NPHP4 NPHP1
26 bardet-biedl syndrome 1 31.3 TTC8 NPHP4 NPHP1
27 joubert syndrome 4 31.3 NPHP4 NPHP1
28 eye disease 31.1 RPGRIP1 NPHP4 NPHP1 KDM4C CABP4
29 bardet-biedl syndrome 30.9 TTC8 RPGRIP1 PDE6A NPY2R NPHP4 NPHP1
30 nephronophthisis 1 30.3 NPHP4 NPHP1
31 nephronophthisis 29.8 TTC8 RPGRIP1 NPHP4 NPHP1 LOC108281186
32 retinitis pigmentosa 29.3 TTC8 RPGRIP1 RGS9BP PDE6A NPHP4 NPHP1
33 fundus dystrophy 29.2 TTC8 RPGRIP1 RGS9BP PDE6A NPHP4 NPHP1
34 leber plus disease 29.1 TTC8 RPGRIP1 RGS9BP PDE6A NPHP4 NPHP1
35 cone-rod dystrophy 2 28.6 RPGRIP1 RGS9BP PDE6A NPHP4 KCNV2 GUCA1B
36 infertility 11.1
37 cystic kidney disease 11.0
38 male infertility 11.0
39 senior-loken syndrome 4 11.0
40 end stage renal disease 11.0
41 joubert syndrome 1 11.0
42 nephronophthisis 2 11.0
43 ciliopathy 11.0
44 juvenile nephronophthisis 11.0
45 meckel syndrome, type 1 10.9
46 asphyxiating thoracic dystrophy 10.9
47 renal fibrosis 10.9
48 coloboma of macula 10.8
49 polycystic kidney disease 1 with or without polycystic liver disease 10.8
50 coach syndrome 1 10.8

Graphical network of the top 20 diseases related to Nephronophthisis 4:



Diseases related to Nephronophthisis 4

Symptoms & Phenotypes for Nephronophthisis 4

Human phenotypes related to Nephronophthisis 4:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 polydipsia 31 HP:0001959
2 anemia 31 HP:0001903
3 growth delay 31 HP:0001510
4 nephronophthisis 31 HP:0000090
5 stage 5 chronic kidney disease 31 HP:0003774
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 Kidneys:
nephronophthisis
end stage renal disease (age 6-35 years)
interstitial cell infiltrate
renal tubular cell atrophy with corticomedullary cysts
renal interstitial fibrosis

Hematology:
anemia

Growth Other:
growth retardation

Clinical features from OMIM®:

606966 (Updated 20-May-2021)

UMLS symptoms related to Nephronophthisis 4:


polydipsia; polyuria

MGI Mouse Phenotypes related to Nephronophthisis 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 CABP4 KCNAB2 KCNV2 NPHP1 NPHP4 NPY2R
2 vision/eye MP:0005391 9.32 CABP4 GUCA1B KCNV2 NPHP1 NPHP4 PDE6A

Drugs & Therapeutics for Nephronophthisis 4

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 4

Genetic Tests for Nephronophthisis 4

Genetic tests related to Nephronophthisis 4:

# Genetic test Affiliating Genes
1 Nephronophthisis 4 29 NPHP4

Anatomical Context for Nephronophthisis 4

MalaCards organs/tissues related to Nephronophthisis 4:

40
Kidney, Liver, Eye, Heart

Publications for Nephronophthisis 4

Articles related to Nephronophthisis 4:

(show top 50) (show all 80)
# Title Authors PMID Year
1
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 6 61 57
12244321 2002
2
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 6 61
12205563 2002
3
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. 57 61
11920287 2002
4
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
5
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. 57
10631142 2000
6
The nephronophthisis complex. A clinicopathologic study in children. 57
7072145 1982
7
Senior- Løken Syndrome: A Case Series and Review of The Reno-Retinal Phenotype and Advances of Molecular Diagnosis. 61
33512896 2021
8
Uptake of next-generation sequencing in children with end-stage renal disease secondary to focal segmental glomerulosclerosis and parental decision for kidney transplantation-Experience from a low resource setting: A Retrospective Cohort Study. 61
33368894 2020
9
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants. 61
31810733 2020
10
Ciliary proteins specify the cell inflammatory response by tuning NFκB signalling, independently of primary cilia. 61
32503942 2020
11
Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2. 61
32647738 2020
12
MKS-NPHP module proteins control ciliary shedding at the transition zone. 61
32163404 2020
13
Disease mechanisms and neuroprotection by tauroursodeoxycholic acid in Rpgr knockout mice. 61
30924157 2019
14
RPGRIP1L helps to establish the ciliary gate for entry of proteins. 61
30237221 2018
15
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease. 61
29520754 2018
16
Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4
. 61
29162218 2018
17
Protein Interaction Analysis Provides a Map of the Spatial and Temporal Organization of the Ciliary Gating Zone. 61
28736169 2017
18
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. 61
28392475 2017
19
Development of a Rapid Salivary Proteomic Platform for Oral Feeding Readiness in the Preterm Newborn. 61
29312906 2017
20
KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling. 61
28134340 2017
21
Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data. 61
27208209 2016
22
Clinical and genetic characteristics of Japanese nephronophthisis patients. 61
26499951 2016
23
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
24
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. 61
26936822 2016
25
Targeting of ASH Domain-Containing Proteins to the Centrosome. 61
27514913 2016
26
Jade-1: its structure, regulation and functions in the renal cancer. 61
26695694 2016
27
The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells. 61
26644512 2015
28
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. 61
26540106 2015
29
Computational gene expression modeling identifies salivary biomarker analysis that predict oral feeding readiness in the newborn. 61
25620512 2015
30
NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone. 61
25150219 2014
31
Diverse phenotypic expression of NPHP4 mutations in four siblings. 61
25818963 2014
32
NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. 61
23574405 2014
33
DNA methylation profile associated with rapid decline in kidney function: findings from the CRIC study. 61
24516231 2014
34
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. 61
24689075 2014
35
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds. 61
23998563 2014
36
DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma. 61
23428843 2013
37
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
38
The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. 61
23026745 2012
39
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. 61
22983010 2012
40
The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling. 61
22654112 2012
41
Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons. 61
22825473 2012
42
Association analyses identify multiple new lung cancer susceptibility loci and their interactions with smoking in the Chinese population. 61
22797725 2012
43
NPHP4 variants are associated with pleiotropic heart malformations. 61
22550138 2012
44
Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins. 61
22393243 2012
45
Inversin, Wnt signaling and primary cilia. 61
22206729 2012
46
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 61
21866095 2011
47
Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish. 61
21596840 2011
48
Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans. 61
21546380 2011
49
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. 61
21498478 2011
50
NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway. 61
21555462 2011

Variations for Nephronophthisis 4

ClinVar genetic disease variations for Nephronophthisis 4:

6 (show top 50) (show all 197)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPHP4 NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter) SNV Pathogenic 3399 rs137852918 GRCh37: 1:5947463-5947463
GRCh38: 1:5887403-5887403
2 NPHP4 NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter) SNV Pathogenic 3400 rs137852919 GRCh37: 1:5947454-5947454
GRCh38: 1:5887394-5887394
3 NPHP4 NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) SNV Pathogenic 3401 rs137852920 GRCh37: 1:5964776-5964776
GRCh38: 1:5904716-5904716
4 NPHP4 NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser) SNV Pathogenic 3402 rs28940891 GRCh37: 1:5935006-5935006
GRCh38: 1:5874946-5874946
5 NPHP4 NM_015102.5(NPHP4):c.3272del (p.Val1091fs) Deletion Pathogenic 3403 rs1278089386 GRCh37: 1:5933355-5933355
GRCh38: 1:5873295-5873295
6 NPHP4 NM_015102.5(NPHP4):c.750dup (p.Ser251fs) Duplication Pathogenic 829848 rs754862360 GRCh37: 1:6012819-6012820
GRCh38: 1:5952759-5952760
7 NPHP4 NM_015102.5(NPHP4):c.517+1G>A SNV Pathogenic 974484 GRCh37: 1:6027358-6027358
GRCh38: 1:5967298-5967298
8 NPHP4 NM_015102.5(NPHP4):c.518-1G>C SNV Pathogenic 974485 GRCh37: 1:6022010-6022010
GRCh38: 1:5961950-5961950
9 NPHP4 NM_015102.5(NPHP4):c.2426_2427dup (p.Pro810fs) Duplication Pathogenic 1030410 GRCh37: 1:5947403-5947404
GRCh38: 1:5887343-5887344
10 NPHP4 NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) Deletion Pathogenic 562366 rs1368105372 GRCh37: 1:5965415-5965418
GRCh38: 1:5905355-5905358
11 NPHP4 NM_015102.5(NPHP4):c.2160del (p.Gln720fs) Deletion Pathogenic 1033317 GRCh37: 1:5951072-5951072
GRCh38: 1:5891012-5891012
12 NPHP4 NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter) SNV Pathogenic 968316 rs997408852 GRCh37: 1:6027359-6027359
GRCh38: 1:5967299-5967299
13 NPHP4 NM_015102.5(NPHP4):c.1956-2A>C SNV Pathogenic 974482 GRCh37: 1:5964866-5964866
GRCh38: 1:5904806-5904806
14 NPHP4 NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) SNV Pathogenic 3405 rs137852923 GRCh37: 1:5964848-5964848
GRCh38: 1:5904788-5904788
15 NPHP4 NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro) SNV Likely pathogenic 974483 GRCh37: 1:5923975-5923975
GRCh38: 1:5863915-5863915
16 NPHP4 NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) Deletion Likely pathogenic 501697 rs1553200990 GRCh37: 1:6038417-6038420
GRCh38: 1:5978357-5978360
17 NPHP4 NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) Deletion Likely pathogenic 225422 rs747699128 GRCh37: 1:5965516-5965519
GRCh38: 1:5905456-5905459
18 NPHP4 NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs) Insertion Likely pathogenic 829827 rs1570504754 GRCh37: 1:5993384-5993385
GRCh38: 1:5933324-5933325
19 NPHP4 NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) SNV Likely pathogenic 829828 rs775612958 GRCh37: 1:5925212-5925212
GRCh38: 1:5865152-5865152
20 NPHP4 NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) SNV Conflicting interpretations of pathogenicity 167373 rs183885357 GRCh37: 1:5935096-5935096
GRCh38: 1:5875036-5875036
21 NPHP4 NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) SNV Uncertain significance 95686 rs35641267 GRCh37: 1:5923427-5923427
GRCh38: 1:5863367-5863367
22 NPHP4 NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) SNV Uncertain significance 167372 rs143020939 GRCh37: 1:5934581-5934581
GRCh38: 1:5874521-5874521
23 NPHP4 NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) SNV Uncertain significance 167372 rs143020939 GRCh37: 1:5934581-5934581
GRCh38: 1:5874521-5874521
24 NPHP4 NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) SNV Uncertain significance 501425 rs375836844 GRCh37: 1:5927908-5927908
GRCh38: 1:5867848-5867848
25 NPHP4 NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn) SNV Uncertain significance 595271 rs367636423 GRCh37: 1:5923991-5923991
GRCh38: 1:5863931-5863931
26 NPHP4 NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) SNV Uncertain significance 297826 rs562484051 GRCh37: 1:6007218-6007218
GRCh38: 1:5947158-5947158
27 NPHP4 NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) SNV Uncertain significance 874184 GRCh37: 1:5947457-5947457
GRCh38: 1:5887397-5887397
28 NPHP4 NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) SNV Uncertain significance 874131 GRCh37: 1:5937247-5937247
GRCh38: 1:5877187-5877187
29 NPHP4 NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu) SNV Uncertain significance 500646 rs199625626 GRCh37: 1:5926466-5926466
GRCh38: 1:5866406-5866406
30 NPHP4 NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg) SNV Uncertain significance 432503 rs537859714 GRCh37: 1:5924541-5924541
GRCh38: 1:5864481-5864481
31 NPHP4 NM_015102.5(NPHP4):c.1440G>A (p.Ser480=) SNV Uncertain significance 497880 rs374690894 GRCh37: 1:5987710-5987710
GRCh38: 1:5927650-5927650
32 NPHP4 NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) SNV Uncertain significance 462718 rs201779243 GRCh37: 1:5924535-5924535
GRCh38: 1:5864475-5864475
33 NPHP4 NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) SNV Uncertain significance 287251 rs201605415 GRCh37: 1:5927827-5927827
GRCh38: 1:5867767-5867767
34 NPHP4 NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) SNV Uncertain significance 220869 rs201433248 GRCh37: 1:5934710-5934710
GRCh38: 1:5874650-5874650
35 NPHP4 NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) SNV Uncertain significance 876921 GRCh37: 1:5937172-5937172
GRCh38: 1:5877112-5877112
36 NPHP4 NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) SNV Uncertain significance 695589 rs199875603 GRCh37: 1:5937189-5937189
GRCh38: 1:5877129-5877129
37 NPHP4 NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) SNV Uncertain significance 874130 GRCh37: 1:5937218-5937218
GRCh38: 1:5877158-5877158
38 NPHP4 NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) SNV Uncertain significance 289888 rs147588666 GRCh37: 1:5940266-5940266
GRCh38: 1:5880206-5880206
39 NPHP4 NM_015102.5(NPHP4):c.2490C>T (p.His830=) SNV Uncertain significance 876974 GRCh37: 1:5940295-5940295
GRCh38: 1:5880235-5880235
40 NPHP4 NM_015102.5(NPHP4):c.2485+9C>A SNV Uncertain significance 594329 rs200952409 GRCh37: 1:5947337-5947337
GRCh38: 1:5887277-5887277
41 NPHP4 NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) SNV Uncertain significance 156399 rs587783027 GRCh37: 1:5951034-5951034
GRCh38: 1:5890974-5890974
42 NPHP4 NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) SNV Uncertain significance 283814 rs200667197 GRCh37: 1:5964769-5964769
GRCh38: 1:5904709-5904709
43 NPHP4 NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) SNV Uncertain significance 194765 rs191913664 GRCh37: 1:5951029-5951029
GRCh38: 1:5890969-5890969
44 NPHP4 NM_015102.5(NPHP4):c.3231+5G>A SNV Uncertain significance 297795 rs886046460 GRCh37: 1:5934526-5934526
GRCh38: 1:5874466-5874466
45 NPHP4 NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) SNV Uncertain significance 195608 rs116606479 GRCh37: 1:5935013-5935013
GRCh38: 1:5874953-5874953
46 NPHP4 NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) SNV Uncertain significance 297807 rs770004315 GRCh37: 1:5947412-5947412
GRCh38: 1:5887352-5887352
47 NPHP4 NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) SNV Uncertain significance 531618 rs761345213 GRCh37: 1:6008176-6008176
GRCh38: 1:5948116-5948116
48 NPHP4 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) SNV Uncertain significance 196471 rs201065230 GRCh37: 1:6038338-6038338
GRCh38: 1:5978278-5978278
49 NPHP4 NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) SNV Uncertain significance 297830 rs201998215 GRCh37: 1:6038352-6038352
GRCh38: 1:5978292-5978292
50 NPHP4 NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) SNV Uncertain significance 501720 rs200272048 GRCh37: 1:6038355-6038355
GRCh38: 1:5978295-5978295

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 4:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 NPHP4 p.Phe991Ser VAR_015186 rs28940891
2 NPHP4 p.Gly754Arg VAR_015214 rs373962831
3 NPHP4 p.Arg342Cys VAR_022529 rs190940697
4 NPHP4 p.Arg469Trp VAR_022530 rs758253306
5 NPHP4 p.Ala654Gly VAR_022534
6 NPHP4 p.Arg735Trp VAR_022535 rs191913664
7 NPHP4 p.Gln766Arg VAR_022538
8 NPHP4 p.Pro776Arg VAR_022539 rs201527181
9 NPHP4 p.His782Gln VAR_022540 rs143385204
10 NPHP4 p.Ala1098Thr VAR_022544 rs41280798
11 NPHP4 p.Arg1192Trp VAR_022545 rs139022622
12 NPHP4 p.Arg1284Cys VAR_022547 rs779755743
13 NPHP4 p.Gln1287Glu VAR_022548 rs201779243

Expression for Nephronophthisis 4

Search GEO for disease gene expression data for Nephronophthisis 4.

Pathways for Nephronophthisis 4

GO Terms for Nephronophthisis 4

Cellular components related to Nephronophthisis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.7 TTC8 RPGRIP1 NPHP4 NPHP1 KCNAB2 GUCA1B
2 cilium GO:0005929 9.65 TTC8 RPGRIP1 NPY2R NPHP4 NPHP1
3 ciliary transition zone GO:0035869 9.37 RPGRIP1 NPHP4
4 photoreceptor disc membrane GO:0097381 9.32 PDE6A GUCA1B
5 photoreceptor connecting cilium GO:0032391 9.26 TTC8 RPGRIP1 NPHP4 NPHP1
6 non-motile cilium GO:0097730 8.92 TTC8 RPGRIP1 NPY2R NPHP4

Biological processes related to Nephronophthisis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.67 RPGRIP1 RGS9BP PDE6A GUCA1B
2 visual perception GO:0007601 9.35 RPGRIP1 RGS9BP PDE6A GUCA1B CABP4
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.32 PDE6A GUCA1B
4 positive regulation of bicellular tight junction assembly GO:1903348 9.26 NPHP4 NPHP1
5 visual behavior GO:0007632 9.16 NPHP4 NPHP1
6 retina development in camera-type eye GO:0060041 8.92 RPGRIP1 PDE6A NPHP4 NPHP1

Molecular functions related to Nephronophthisis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel regulator activity GO:0005246 8.62 NPY2R CABP4

Sources for Nephronophthisis 4

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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