NPHP9
MCID: NPH035
MIFTS: 35

Nephronophthisis 9 (NPHP9)

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

Aliases & Classifications for Nephronophthisis 9

MalaCards integrated aliases for Nephronophthisis 9:

Name: Nephronophthisis 9 58 12 76 30 13 6 15 74
Nphp9 58 12 76
Nephronophthisis, Type 9 41

Characteristics:

HPO:

33
nephronophthisis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111120
OMIM 58 613824
MeSH 45 D052177
MedGen 43 C3151188
SNOMED-CT via HPO 70 204958008 258211005 433146000
UMLS 74 C3151188

Summaries for Nephronophthisis 9

OMIM : 58 Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by Otto et al., 2008). For a general description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100). (613824)

MalaCards based summary : Nephronophthisis 9, also known as nphp9, is related to renal-hepatic-pancreatic dysplasia 2 and late-onset nephronophthisis. An important gene associated with Nephronophthisis 9 is NEK8 (NIMA Related Kinase 8), and among its related pathways/superpathways are Angiogenesis (CST) and Canonical and Non-canonical Notch signaling. Affiliated tissues include kidney, and related phenotypes are nephronophthisis and stage 5 chronic kidney disease

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous mutation in the NEK8 gene on chromosome 17q11.

UniProtKB/Swiss-Prot : 76 Nephronophthisis 9: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.

Related Diseases for Nephronophthisis 9

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 renal-hepatic-pancreatic dysplasia 2 10.4 NEK8 TLCD1
2 late-onset nephronophthisis 10.4 NPHP3 XPNPEP3
3 nephronophthisis-like nephropathy 1 10.3 NPHP1 XPNPEP3
4 nephronophthisis 13 10.2 INVS NPHP1
5 nephronophthisis 19 10.2 NPHP1 NPHP4
6 retinal aplasia 10.2 NPHP1 NPHP4
7 cogan syndrome 10.2 NPHP1 NPHP3 NPHP4
8 nephronophthisis 4 10.1 NPHP1 NPHP4
9 meckel syndrome, type 6 10.1 INVS NPHP1 NPHP4
10 nephronophthisis 3 10.1 NPHP1 NPHP3
11 visceral heterotaxy 10.1 INVS NPHP1 NPHP3
12 polycystic kidney disease 10.1 ANKS6 NEK8 PKHD1
13 polycystic kidney disease 2 with or without polycystic liver disease 10.1 ANKS6 NEK9 PKHD1
14 meckel syndrome, type 1 10.1 INVS NPHP1 NPHP4
15 nephronophthisis 16 10.1 ANKS6 HIF1AN NPHP1
16 polycystic liver disease 1 with or without kidney cysts 10.0 NPHP1 NPHP4 PKHD1
17 nephronophthisis 7 10.0 INVS NPHP1
18 nephronophthisis 11 10.0 NPHP1 NPHP3 NPHP4 XPNPEP3
19 nephronophthisis 1 10.0 INVS NPHP1 NPHP3 NPHP4
20 joubert syndrome 1 10.0 INVS NPHP1 NPHP3 NPHP4
21 nodular regenerative hyperplasia 9.9 JAG1 NOTCH2
22 infantile nephronophthisis 9.9 ANKS6 INVS NEK8 NPHP3 NPHP4
23 juvenile nephronophthisis 9.8 ANKS6 INVS NPHP1 NPHP3 NPHP4
24 leber congenital amaurosis 9.8 CD68 NPHP1 NPHP3 NPHP4
25 nephronophthisis 2 9.8 INVS NEK8 NEK9 NPHP1 NPHP3 NPHP4
26 senior-loken syndrome 1 9.7 INVS NEK9 NPHP1 NPHP3 NPHP4 XPNPEP3
27 granulomatous angiitis 9.6 CD68 JAG1
28 nephronophthisis 18 9.6 INVS NEK8 NEK9 NPHP1 NPHP3 NPHP4
29 bardet-biedl syndrome 9.6 CCNA2 INVS NPHP1 NPHP4
30 nephronophthisis 9.2 ANKS6 INVS NEK8 NEK9 NPHP1 NPHP3
31 cystic kidney disease 9.2 ANKS6 INVS NEK8 NEK9 NPHP1 NPHP3
32 renal-hepatic-pancreatic dysplasia 9.1 INVS JAG1 NEK8 NOTCH2 NPHP3 PKHD1

Graphical network of the top 20 diseases related to Nephronophthisis 9:



Diseases related to Nephronophthisis 9

Symptoms & Phenotypes for Nephronophthisis 9

Human phenotypes related to Nephronophthisis 9:

33
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 33 HP:0000090
2 stage 5 chronic kidney disease 33 HP:0003774
3 renal cortical microcysts 33 HP:0004734

Clinical features from OMIM:

613824

MGI Mouse Phenotypes related to Nephronophthisis 9:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ANKS6 HIF1AN INVS JAG1 NEK8 NOTCH2
2 cellular MP:0005384 10.02 CCNA2 HIF1AN INVS JAG1 NFKB1 NOTCH2
3 hematopoietic system MP:0005397 9.91 CCNA2 CD68 INVS JAG1 NEK9 NFKB1
4 liver/biliary system MP:0005370 9.7 ANKS6 HIF1AN INVS JAG1 NFKB1 NOTCH2
5 renal/urinary system MP:0005367 9.56 INVS JAG1 NEK8 NOTCH2 NPHP1 NPHP3
6 respiratory system MP:0005388 9.17 ANKS6 HIF1AN INVS NEK8 NFKB1 NOTCH2

Drugs & Therapeutics for Nephronophthisis 9

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 9

Genetic Tests for Nephronophthisis 9

Genetic tests related to Nephronophthisis 9:

# Genetic test Affiliating Genes
1 Nephronophthisis 9 30 NEK8

Anatomical Context for Nephronophthisis 9

MalaCards organs/tissues related to Nephronophthisis 9:

42
Kidney

Publications for Nephronophthisis 9

Articles related to Nephronophthisis 9:

# Title Authors Year
1
The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. ( 22687244 )
2012
2
The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. ( 23026745 )
2012
3
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. ( 18199800 )
2008

Variations for Nephronophthisis 9

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 9:

76
# Symbol AA change Variation ID SNP ID
1 NEK8 p.Leu330Phe VAR_065769 rs199962228
2 NEK8 p.His425Tyr VAR_065770 rs118204032
3 NEK8 p.Ala497Pro VAR_065771 rs146326420

ClinVar genetic disease variations for Nephronophthisis 9:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK8 NM_178170.3(NEK8): c.1273C> T (p.His425Tyr) single nucleotide variant Pathogenic rs118204032 GRCh37 Chromosome 17, 27065739: 27065739
2 NEK8 NM_178170.3(NEK8): c.1273C> T (p.His425Tyr) single nucleotide variant Pathogenic rs118204032 GRCh38 Chromosome 17, 28738721: 28738721
3 NEK8 NM_178170.3(NEK8): c.2052G> A (p.Ser684=) single nucleotide variant Benign/Likely benign rs145898152 GRCh37 Chromosome 17, 27068978: 27068978
4 NEK8 NM_178170.3(NEK8): c.2052G> A (p.Ser684=) single nucleotide variant Benign/Likely benign rs145898152 GRCh38 Chromosome 17, 28741960: 28741960
5 NEK8 NM_178170.3(NEK8): c.1055G> T (p.Arg352Leu) single nucleotide variant Uncertain significance rs199933041 GRCh37 Chromosome 17, 27065002: 27065002
6 NEK8 NM_178170.3(NEK8): c.1055G> T (p.Arg352Leu) single nucleotide variant Uncertain significance rs199933041 GRCh38 Chromosome 17, 28737984: 28737984
7 NEK8 NM_178170.3(NEK8): c.2011G> A (p.Val671Met) single nucleotide variant Uncertain significance rs202119105 GRCh38 Chromosome 17, 28741532: 28741532
8 NEK8 NM_178170.3(NEK8): c.2011G> A (p.Val671Met) single nucleotide variant Uncertain significance rs202119105 GRCh37 Chromosome 17, 27068550: 27068550
9 NEK8 NM_178170.3(NEK8): c.419G> T (p.Arg140Leu) single nucleotide variant Uncertain significance rs141599330 GRCh37 Chromosome 17, 27061955: 27061955
10 NEK8 NM_178170.3(NEK8): c.419G> T (p.Arg140Leu) single nucleotide variant Uncertain significance rs141599330 GRCh38 Chromosome 17, 28734937: 28734937
11 NEK8 NM_178170.2(NEK8): c.1732+8_1732+10delGGA deletion Likely benign rs3833163 GRCh37 Chromosome 17, 27068011: 27068013
12 NEK8 NM_178170.2(NEK8): c.1732+8_1732+10delGGA deletion Likely benign rs3833163 GRCh38 Chromosome 17, 28740993: 28740995
13 NEK8 NM_178170.3(NEK8): c.1641C> T (p.Ala547=) single nucleotide variant Conflicting interpretations of pathogenicity rs8073738 GRCh38 Chromosome 17, 28740894: 28740894
14 NEK8 NM_178170.3(NEK8): c.1641C> T (p.Ala547=) single nucleotide variant Conflicting interpretations of pathogenicity rs8073738 GRCh37 Chromosome 17, 27067912: 27067912
15 NEK8 NM_178170.3(NEK8): c.1938A> C (p.Gly646=) single nucleotide variant Conflicting interpretations of pathogenicity rs138629865 GRCh38 Chromosome 17, 28741459: 28741459
16 NEK8 NM_178170.3(NEK8): c.1938A> C (p.Gly646=) single nucleotide variant Conflicting interpretations of pathogenicity rs138629865 GRCh37 Chromosome 17, 27068477: 27068477
17 NEK8 NM_178170.2(NEK8): c.9G> A (p.Lys3=) single nucleotide variant Likely benign rs759474870 GRCh37 Chromosome 17, 27055840: 27055840
18 NEK8 NM_178170.2(NEK8): c.9G> A (p.Lys3=) single nucleotide variant Likely benign rs759474870 GRCh38 Chromosome 17, 28728822: 28728822
19 NEK8 NM_178170.2(NEK8): c.581A> C (p.Tyr194Ser) single nucleotide variant Uncertain significance rs1060501399 GRCh38 Chromosome 17, 28735334: 28735334
20 NEK8 NM_178170.2(NEK8): c.581A> C (p.Tyr194Ser) single nucleotide variant Uncertain significance rs1060501399 GRCh37 Chromosome 17, 27062352: 27062352
21 NEK8 NM_178170.2(NEK8): c.583G> A (p.Glu195Lys) single nucleotide variant Uncertain significance rs752331372 GRCh37 Chromosome 17, 27062354: 27062354
22 NEK8 NM_178170.2(NEK8): c.583G> A (p.Glu195Lys) single nucleotide variant Uncertain significance rs752331372 GRCh38 Chromosome 17, 28735336: 28735336
23 NEK8 NM_178170.3(NEK8): c.2001G> A (p.Thr667=) single nucleotide variant Benign rs192081177 GRCh37 Chromosome 17, 27068540: 27068540
24 NEK8 NM_178170.3(NEK8): c.2001G> A (p.Thr667=) single nucleotide variant Benign rs192081177 GRCh38 Chromosome 17, 28741522: 28741522
25 NEK8 NM_178170.2(NEK8): c.743delC (p.Pro248Hisfs) deletion Pathogenic rs1555564134 GRCh37 Chromosome 17, 27064448: 27064448
26 NEK8 NM_178170.2(NEK8): c.743delC (p.Pro248Hisfs) deletion Pathogenic rs1555564134 GRCh38 Chromosome 17, 28737430: 28737430
27 NEK8 NM_178170.2(NEK8): c.889+1G> T single nucleotide variant Likely pathogenic rs780247729 GRCh38 Chromosome 17, 28737737: 28737737
28 NEK8 NM_178170.2(NEK8): c.889+1G> T single nucleotide variant Likely pathogenic rs780247729 GRCh37 Chromosome 17, 27064755: 27064755
29 NEK8 NM_178170.2(NEK8): c.977G> A (p.Arg326Gln) single nucleotide variant Uncertain significance rs200972000 GRCh37 Chromosome 17, 27064924: 27064924
30 NEK8 NM_178170.2(NEK8): c.977G> A (p.Arg326Gln) single nucleotide variant Uncertain significance rs200972000 GRCh38 Chromosome 17, 28737906: 28737906
31 NEK8 NM_178170.2(NEK8): c.1299+3G> T single nucleotide variant Uncertain significance rs201629139 GRCh38 Chromosome 17, 28738750: 28738750
32 NEK8 NM_178170.2(NEK8): c.1299+3G> T single nucleotide variant Uncertain significance rs201629139 GRCh37 Chromosome 17, 27065768: 27065768
33 NEK8 NM_178170.2(NEK8): c.339G> C (p.Leu113=) single nucleotide variant Likely benign rs1555563821 GRCh38 Chromosome 17, 28734857: 28734857
34 NEK8 NM_178170.2(NEK8): c.339G> C (p.Leu113=) single nucleotide variant Likely benign rs1555563821 GRCh37 Chromosome 17, 27061875: 27061875
35 NEK8 NM_178170.2(NEK8): c.889+2delT deletion Likely pathogenic rs1555564214 GRCh37 Chromosome 17, 27064756: 27064756
36 NEK8 NM_178170.2(NEK8): c.889+2delT deletion Likely pathogenic rs1555564214 GRCh38 Chromosome 17, 28737738: 28737738
37 NEK8 NM_178170.2(NEK8): c.1237A> C (p.Met413Leu) single nucleotide variant Likely benign rs141650477 GRCh38 Chromosome 17, 28738685: 28738685
38 NEK8 NM_178170.2(NEK8): c.1237A> C (p.Met413Leu) single nucleotide variant Likely benign rs141650477 GRCh37 Chromosome 17, 27065703: 27065703
39 NEK8 NM_178170.3(NEK8): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 27061955: 27061955
40 NEK8 NM_178170.3(NEK8): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 28734937: 28734937
41 NEK8 NM_178170.3(NEK8): c.139G> T (p.Ala47Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 28734074: 28734074
42 NEK8 NM_178170.3(NEK8): c.139G> T (p.Ala47Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 27061092: 27061092

Expression for Nephronophthisis 9

Search GEO for disease gene expression data for Nephronophthisis 9.

Pathways for Nephronophthisis 9

Pathways related to Nephronophthisis 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 HIF1AN JAG1 NOTCH2
2 10.39 JAG1 NOTCH2

GO Terms for Nephronophthisis 9

Cellular components related to Nephronophthisis 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.97 ANKS6 CCNA2 HIF1AN INVS NEK8 NEK9
2 cell projection GO:0042995 9.5 ANKS6 INVS NEK8 NPHP1 NPHP3 NPHP4
3 cilium GO:0005929 9.17 ANKS6 INVS NEK8 NPHP1 NPHP3 NPHP4

Biological processes related to Nephronophthisis 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.61 NPHP1 NPHP4 PKHD1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.58 INVS NPHP3 NPHP4
3 animal organ morphogenesis GO:0009887 9.54 JAG1 NEK8 NOTCH2
4 cell fate determination GO:0001709 9.32 JAG1 NOTCH2
5 pulmonary valve morphogenesis GO:0003184 9.26 JAG1 NOTCH2
6 Notch signaling involved in heart development GO:0061314 9.16 JAG1 NOTCH2
7 visual behavior GO:0007632 8.96 NPHP1 NPHP4
8 positive regulation of bicellular tight junction assembly GO:1903348 8.62 NPHP1 NPHP4

Molecular functions related to Nephronophthisis 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 ANKS6 CCNA2 HIF1AN INVS JAG1 NEK8
2 Notch binding GO:0005112 8.96 HIF1AN JAG1

Sources for Nephronophthisis 9

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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