MCID: NPH035
MIFTS: 18

Nephronophthisis 9

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 9

MalaCards integrated aliases for Nephronophthisis 9:

Name: Nephronophthisis 9 57 12 75 29 13 6 73
Nphp9 57 12 75
Nephronophthisis, Type 9 40

Characteristics:

HPO:

32
nephronophthisis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613824
Disease Ontology 12 DOID:0111120
MedGen 42 C3151188
MeSH 44 D052177
SNOMED-CT via HPO 69 258211005 204958008 433146000
UMLS 73 C3151188

Summaries for Nephronophthisis 9

OMIM : 57 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, is also known as nphp9. An important gene associated with Nephronophthisis 9 is NEK8 (NIMA Related Kinase 8). 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 : 75 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

Symptoms & Phenotypes for Nephronophthisis 9

Clinical features from OMIM:

613824

Human phenotypes related to Nephronophthisis 9:

32
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 stage 5 chronic kidney disease 32 HP:0003774
3 renal cortical microcysts 32 HP:0004734

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 29 NEK8

Anatomical Context for Nephronophthisis 9

MalaCards organs/tissues related to Nephronophthisis 9:

41
Kidney

Publications for Nephronophthisis 9

Variations for Nephronophthisis 9

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

75
# 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 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK8 NM_178170.2(NEK8): c.1273C> T (p.His425Tyr) single nucleotide variant Pathogenic rs118204032 GRCh37 Chromosome 17, 27065739: 27065739
2 NEK8 NM_178170.2(NEK8): c.1273C> T (p.His425Tyr) single nucleotide variant Pathogenic rs118204032 GRCh38 Chromosome 17, 28738721: 28738721
3 NEK8 NM_178170.2(NEK8): c.2052G> A (p.Ser684=) single nucleotide variant Benign/Likely benign rs145898152 GRCh37 Chromosome 17, 27068978: 27068978
4 NEK8 NM_178170.2(NEK8): c.2052G> A (p.Ser684=) single nucleotide variant Benign/Likely benign rs145898152 GRCh38 Chromosome 17, 28741960: 28741960
5 NEK8 NM_178170.2(NEK8): c.2011G> A (p.Val671Met) single nucleotide variant Uncertain significance rs202119105 GRCh38 Chromosome 17, 28741532: 28741532
6 NEK8 NM_178170.2(NEK8): c.2011G> A (p.Val671Met) single nucleotide variant Uncertain significance rs202119105 GRCh37 Chromosome 17, 27068550: 27068550
7 NEK8 NM_178170.2(NEK8): c.419G> T (p.Arg140Leu) single nucleotide variant Uncertain significance rs141599330 GRCh37 Chromosome 17, 27061955: 27061955
8 NEK8 NM_178170.2(NEK8): c.419G> T (p.Arg140Leu) single nucleotide variant Uncertain significance rs141599330 GRCh38 Chromosome 17, 28734937: 28734937
9 NEK8 NM_178170.2(NEK8): c.1732+8_1732+10delGGA deletion Likely benign rs3833163 GRCh37 Chromosome 17, 27068011: 27068013
10 NEK8 NM_178170.2(NEK8): c.1732+8_1732+10delGGA deletion Likely benign rs3833163 GRCh38 Chromosome 17, 28740993: 28740995
11 NEK8 NM_178170.2(NEK8): c.1641C> T (p.Ala547=) single nucleotide variant Conflicting interpretations of pathogenicity rs8073738 GRCh38 Chromosome 17, 28740894: 28740894
12 NEK8 NM_178170.2(NEK8): c.1641C> T (p.Ala547=) single nucleotide variant Conflicting interpretations of pathogenicity rs8073738 GRCh37 Chromosome 17, 27067912: 27067912
13 NEK8 NM_178170.2(NEK8): c.1938A> C (p.Gly646=) single nucleotide variant Conflicting interpretations of pathogenicity rs138629865 GRCh38 Chromosome 17, 28741459: 28741459
14 NEK8 NM_178170.2(NEK8): c.1938A> C (p.Gly646=) single nucleotide variant Conflicting interpretations of pathogenicity rs138629865 GRCh37 Chromosome 17, 27068477: 27068477
15 NEK8 NM_178170.2(NEK8): c.9G> A (p.Lys3=) single nucleotide variant Likely benign rs759474870 GRCh37 Chromosome 17, 27055840: 27055840
16 NEK8 NM_178170.2(NEK8): c.9G> A (p.Lys3=) single nucleotide variant Likely benign rs759474870 GRCh38 Chromosome 17, 28728822: 28728822
17 NEK8 NM_178170.2(NEK8): c.581A> C (p.Tyr194Ser) single nucleotide variant Uncertain significance rs1060501399 GRCh38 Chromosome 17, 28735334: 28735334
18 NEK8 NM_178170.2(NEK8): c.581A> C (p.Tyr194Ser) single nucleotide variant Uncertain significance rs1060501399 GRCh37 Chromosome 17, 27062352: 27062352
19 NEK8 NM_178170.2(NEK8): c.583G> A (p.Glu195Lys) single nucleotide variant Uncertain significance rs752331372 GRCh37 Chromosome 17, 27062354: 27062354
20 NEK8 NM_178170.2(NEK8): c.583G> A (p.Glu195Lys) single nucleotide variant Uncertain significance rs752331372 GRCh38 Chromosome 17, 28735336: 28735336
21 NEK8 NM_178170.2(NEK8): c.2001G> A (p.Thr667=) single nucleotide variant Benign rs192081177 GRCh37 Chromosome 17, 27068540: 27068540
22 NEK8 NM_178170.2(NEK8): c.2001G> A (p.Thr667=) single nucleotide variant Benign rs192081177 GRCh38 Chromosome 17, 28741522: 28741522
23 NEK8 NM_178170.2(NEK8): c.743delC (p.Pro248Hisfs) deletion Pathogenic GRCh38 Chromosome 17, 28737430: 28737430
24 NEK8 NM_178170.2(NEK8): c.743delC (p.Pro248Hisfs) deletion Pathogenic GRCh37 Chromosome 17, 27064448: 27064448
25 NEK8 NM_178170.2(NEK8): c.889+1G> T single nucleotide variant Likely pathogenic rs780247729 GRCh38 Chromosome 17, 28737737: 28737737
26 NEK8 NM_178170.2(NEK8): c.889+1G> T single nucleotide variant Likely pathogenic rs780247729 GRCh37 Chromosome 17, 27064755: 27064755
27 NEK8 NM_178170.2(NEK8): c.977G> A (p.Arg326Gln) single nucleotide variant Uncertain significance rs200972000 GRCh37 Chromosome 17, 27064924: 27064924
28 NEK8 NM_178170.2(NEK8): c.977G> A (p.Arg326Gln) single nucleotide variant Uncertain significance rs200972000 GRCh38 Chromosome 17, 28737906: 28737906
29 NEK8 NM_178170.2(NEK8): c.1299+3G> T single nucleotide variant Uncertain significance rs201629139 GRCh38 Chromosome 17, 28738750: 28738750
30 NEK8 NM_178170.2(NEK8): c.1299+3G> T single nucleotide variant Uncertain significance rs201629139 GRCh37 Chromosome 17, 27065768: 27065768
31 NEK8 NM_178170.2(NEK8): c.339G> C (p.Leu113=) single nucleotide variant Likely benign GRCh38 Chromosome 17, 28734857: 28734857
32 NEK8 NM_178170.2(NEK8): c.339G> C (p.Leu113=) single nucleotide variant Likely benign GRCh37 Chromosome 17, 27061875: 27061875
33 NEK8 NM_178170.2(NEK8): c.889+2delT deletion Likely pathogenic GRCh37 Chromosome 17, 27064756: 27064756
34 NEK8 NM_178170.2(NEK8): c.889+2delT deletion Likely pathogenic GRCh38 Chromosome 17, 28737738: 28737738
35 NEK8 NM_178170.2(NEK8): c.1237A> C (p.Met413Leu) single nucleotide variant Likely benign rs141650477 GRCh38 Chromosome 17, 28738685: 28738685
36 NEK8 NM_178170.2(NEK8): c.1237A> C (p.Met413Leu) single nucleotide variant Likely benign rs141650477 GRCh37 Chromosome 17, 27065703: 27065703

Expression for Nephronophthisis 9

Search GEO for disease gene expression data for Nephronophthisis 9.

Pathways for Nephronophthisis 9

GO Terms for Nephronophthisis 9

Sources for Nephronophthisis 9

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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