NPHP18
MCID: NPH075
MIFTS: 35

Nephronophthisis 18 (NPHP18)

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

Aliases & Classifications for Nephronophthisis 18

MalaCards integrated aliases for Nephronophthisis 18:

Name: Nephronophthisis 18 58 12 76 30 6 15 74
Nphp18 58 12 76
Nephronophthisis, Type 18 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
about 50% of patients have intellectual disability and/or hydrocephalus


HPO:

33
nephronophthisis 18:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 18

OMIM : 58 Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). (615862)

MalaCards based summary : Nephronophthisis 18, also known as nphp18, is related to nephronophthisis 15 and retinitis pigmentosa 3. An important gene associated with Nephronophthisis 18 is CEP83 (Centrosomal Protein 83), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, and related phenotypes are hydrocephalus and intellectual disability

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.

UniProtKB/Swiss-Prot : 76 Nephronophthisis 18: An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients.

Related Diseases for Nephronophthisis 18

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 15 10.2 CEP83 INVS
2 retinitis pigmentosa 3 9.9 IQCB1 RCC1
3 nephronophthisis 13 9.9 INVS NPHP1
4 nephronophthisis 3 9.9 NPHP1 NPHP3
5 nephronophthisis 7 9.8 INVS NPHP1
6 nephronophthisis 19 9.8 NPHP1 NPHP4
7 nephronophthisis 4 9.8 NPHP1 NPHP4
8 nephronophthisis 16 9.8 IQCB1 NPHP1
9 visceral heterotaxy 9.7 INVS NPHP1 NPHP3
10 cogan syndrome 9.7 NPHP1 NPHP3 NPHP4
11 meckel syndrome, type 6 9.6 INVS NPHP1 NPHP4
12 polycystic liver disease 1 with or without kidney cysts 9.6 NPHP1 NPHP4
13 retinal aplasia 9.6 IQCB1 NPHP1 NPHP4
14 apraxia 9.5 NPHP1 NPHP4
15 nephronophthisis 1 9.5 INVS NPHP1 NPHP3 NPHP4
16 bardet-biedl syndrome 9.5 INVS NPHP1 NPHP4
17 nephronophthisis 11 9.4 IQCB1 NPHP1 NPHP3 NPHP4
18 infantile nephronophthisis 9.4 CEP83 INVS NEK8 NPHP3 NPHP4
19 meckel syndrome, type 1 9.4 INVS IQCB1 NPHP1 NPHP4
20 leber congenital amaurosis 9.4 IQCB1 NPHP1 NPHP3 NPHP4
21 renal-hepatic-pancreatic dysplasia 9.3 INVS IQCB1 NEK8 NPHP3 RCC1
22 juvenile nephronophthisis 9.2 INVS IQCB1 NPHP1 NPHP3 NPHP4
23 joubert syndrome 1 9.2 INVS IQCB1 NPHP1 NPHP3 NPHP4
24 senior-loken syndrome 1 9.0 INVS IQCB1 NEK9 NPHP1 NPHP3 NPHP4
25 cystic kidney disease 8.9 INVS NEK8 NEK9 NPHP1 NPHP3 NPHP4
26 retinitis pigmentosa 8.9 INVS IQCB1 NPHP1 NPHP3 NPHP4 RCC1
27 nephronophthisis 2 8.6 INVS IQCB1 NEK8 NEK9 NPHP1 NPHP3
28 nephronophthisis 9 8.6 INVS NEK8 NEK9 NPHP1 NPHP3 NPHP4
29 nephronophthisis 8.4 CEP83 INVS IQCB1 NEK8 NEK9 NPHP1

Graphical network of the top 20 diseases related to Nephronophthisis 18:



Diseases related to Nephronophthisis 18

Symptoms & Phenotypes for Nephronophthisis 18

Human phenotypes related to Nephronophthisis 18:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 occasional (7.5%) HP:0000238
2 intellectual disability 33 occasional (7.5%) HP:0001249
3 strabismus 33 occasional (7.5%) HP:0000486
4 cholestasis 33 occasional (7.5%) HP:0001396
5 portal fibrosis 33 occasional (7.5%) HP:0006580
6 retinitis 33 very rare (1%) HP:0032118
7 nephronophthisis 33 HP:0000090
8 tubulointerstitial nephritis 33 HP:0001970
9 stage 5 chronic kidney disease 33 HP:0003774
10 tubular atrophy 33 HP:0000092
11 thickening of the glomerular basement membrane 33 HP:0004722

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
nephronophthisis
tubulointerstitial nephritis
tubular atrophy
end-stage renal disease
corticomedullary cysts
more
Head And Neck Ears:
strabismus (in some patients)
retinitis (in some patients)

Abdomen Liver:
hepatic involvement (in some patients)
cholestasis (in some patients)
hepatic cytolysis (in some patients)
portal fibrosis (in some patients)

Cardiovascular Vascular:
hypertension due to renal disease

Neurologic Central Nervous System:
hydrocephalus (in some patients)
intellectual disability (in some patients)

Clinical features from OMIM:

615862

MGI Mouse Phenotypes related to Nephronophthisis 18:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 INVS NEK8 NPHP1 NPHP3 NPHP4

Drugs & Therapeutics for Nephronophthisis 18

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 18

Genetic Tests for Nephronophthisis 18

Genetic tests related to Nephronophthisis 18:

# Genetic test Affiliating Genes
1 Nephronophthisis 18 30 CEP83

Anatomical Context for Nephronophthisis 18

MalaCards organs/tissues related to Nephronophthisis 18:

42
Kidney

Publications for Nephronophthisis 18

Articles related to Nephronophthisis 18:

# Title Authors Year
1
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014

Variations for Nephronophthisis 18

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 18:

76
# Symbol AA change Variation ID SNP ID
1 CEP83 p.Leu87Pro VAR_071266
2 CEP83 p.Arg511Pro VAR_071268 rs587777487

ClinVar genetic disease variations for Nephronophthisis 18:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP83 NM_016122.2(CEP83): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs587777486 GRCh37 Chromosome 12, 94806146: 94806146
2 CEP83 NM_016122.2(CEP83): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs587777486 GRCh38 Chromosome 12, 94412370: 94412370
3 CEP83 NM_001042399.1(CEP83): c.335_352del (p.Pro112_Leu117del) deletion Pathogenic rs879255575 GRCh37 Chromosome 12, 94797011: 94797028
4 CEP83 NM_001042399.1(CEP83): c.335_352del (p.Pro112_Leu117del) deletion Pathogenic rs879255575 GRCh38 Chromosome 12, 94403235: 94403252
5 CEP83 NM_016122.2(CEP83): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs368619022 GRCh37 Chromosome 12, 94805556: 94805556
6 CEP83 NM_016122.2(CEP83): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs368619022 GRCh38 Chromosome 12, 94411780: 94411780
7 CEP83 NM_001042399.1(CEP83): c.2075_2077delAAC (p.Gln692del) deletion Pathogenic rs879255576 GRCh37 Chromosome 12, 94702618: 94702620
8 CEP83 NM_001042399.1(CEP83): c.2075_2077delAAC (p.Gln692del) deletion Pathogenic rs879255576 GRCh38 Chromosome 12, 94308842: 94308844
9 CEP83 NM_016122.2(CEP83): c.1532G> C (p.Arg511Pro) single nucleotide variant Pathogenic rs587777487 GRCh37 Chromosome 12, 94727303: 94727303
10 CEP83 NM_016122.2(CEP83): c.1532G> C (p.Arg511Pro) single nucleotide variant Pathogenic rs587777487 GRCh38 Chromosome 12, 94333527: 94333527
11 CEP83 NM_016122.2(CEP83): c.625C> T (p.Arg209Ter) single nucleotide variant Pathogenic rs369483167 GRCh37 Chromosome 12, 94772743: 94772743
12 CEP83 NM_016122.2(CEP83): c.625C> T (p.Arg209Ter) single nucleotide variant Pathogenic rs369483167 GRCh38 Chromosome 12, 94378967: 94378967
13 CEP83 NM_016122.2(CEP83): c.1530C> A (p.Cys510Ter) single nucleotide variant Pathogenic rs587777488 GRCh37 Chromosome 12, 94727305: 94727305
14 CEP83 NM_016122.2(CEP83): c.1530C> A (p.Cys510Ter) single nucleotide variant Pathogenic rs587777488 GRCh38 Chromosome 12, 94333529: 94333529
15 CEP83 NM_016122.2(CEP83): c.1582T> C (p.Leu528=) single nucleotide variant Benign rs199593910 GRCh38 Chromosome 12, 94331825: 94331825
16 CEP83 NM_016122.2(CEP83): c.1582T> C (p.Leu528=) single nucleotide variant Benign rs199593910 GRCh37 Chromosome 12, 94725601: 94725601
17 CEP83 NM_016122.2(CEP83): c.437C> T (p.Ala146Val) single nucleotide variant Benign rs115988985 GRCh37 Chromosome 12, 94794738: 94794738
18 CEP83 NM_016122.2(CEP83): c.437C> T (p.Ala146Val) single nucleotide variant Benign rs115988985 GRCh38 Chromosome 12, 94400962: 94400962
19 CEP83 NM_016122.2(CEP83): c.408T> C (p.Asn136=) single nucleotide variant Benign rs148769208 GRCh37 Chromosome 12, 94796955: 94796955
20 CEP83 NM_016122.2(CEP83): c.408T> C (p.Asn136=) single nucleotide variant Benign rs148769208 GRCh38 Chromosome 12, 94403179: 94403179
21 CEP83 NM_016122.2(CEP83): c.1470T> C (p.Asn490=) single nucleotide variant Likely benign rs780167307 GRCh38 Chromosome 12, 94333589: 94333589
22 CEP83 NM_016122.2(CEP83): c.1470T> C (p.Asn490=) single nucleotide variant Likely benign rs780167307 GRCh37 Chromosome 12, 94727365: 94727365
23 CEP83 NM_016122.2(CEP83): c.1411C> T (p.Leu471=) single nucleotide variant Benign rs139046818 GRCh38 Chromosome 12, 94335597: 94335597
24 CEP83 NM_016122.2(CEP83): c.1411C> T (p.Leu471=) single nucleotide variant Benign rs139046818 GRCh37 Chromosome 12, 94729373: 94729373
25 CEP83 NM_016122.2(CEP83): c.1565T> G (p.Leu522Arg) single nucleotide variant Likely benign rs150415429 GRCh37 Chromosome 12, 94727270: 94727270
26 CEP83 NM_016122.2(CEP83): c.1565T> G (p.Leu522Arg) single nucleotide variant Likely benign rs150415429 GRCh38 Chromosome 12, 94333494: 94333494
27 CEP83 NM_016122.2(CEP83): c.1203C> T (p.Leu401=) single nucleotide variant Benign rs189675715 GRCh38 Chromosome 12, 94367934: 94367934
28 CEP83 NM_016122.2(CEP83): c.1203C> T (p.Leu401=) single nucleotide variant Benign rs189675715 GRCh37 Chromosome 12, 94761710: 94761710
29 CEP83 NM_016122.2(CEP83): c.860G> A (p.Ser287Asn) single nucleotide variant Uncertain significance rs893839841 GRCh37 Chromosome 12, 94769735: 94769735
30 CEP83 NM_016122.2(CEP83): c.860G> A (p.Ser287Asn) single nucleotide variant Uncertain significance rs893839841 GRCh38 Chromosome 12, 94375959: 94375959
31 CEP83 NM_016122.2(CEP83): c.613A> G (p.Lys205Glu) single nucleotide variant Uncertain significance rs770141064 GRCh37 Chromosome 12, 94772755: 94772755
32 CEP83 NM_016122.2(CEP83): c.613A> G (p.Lys205Glu) single nucleotide variant Uncertain significance rs770141064 GRCh38 Chromosome 12, 94378979: 94378979
33 CEP83 NM_016122.2(CEP83): c.1888C> T (p.Arg630Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 94310031: 94310031
34 CEP83 NM_016122.2(CEP83): c.1888C> T (p.Arg630Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 94703807: 94703807
35 CEP83 NM_016122.2(CEP83): c.479C> T (p.Ser160Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 94794696: 94794696
36 CEP83 NM_016122.2(CEP83): c.479C> T (p.Ser160Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 94400920: 94400920

Expression for Nephronophthisis 18

Search GEO for disease gene expression data for Nephronophthisis 18.

Pathways for Nephronophthisis 18

GO Terms for Nephronophthisis 18

Cellular components related to Nephronophthisis 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.97 CEP83 INVS IQCB1 NEK8 NEK9 NPHP1
2 cell projection GO:0042995 9.65 INVS NEK8 NPHP1 NPHP3 NPHP4
3 cytoskeleton GO:0005856 9.63 CEP83 INVS IQCB1 NEK8 NPHP1 NPHP4
4 ciliary base GO:0097546 9.32 NEK8 NPHP4
5 photoreceptor connecting cilium GO:0032391 9.13 IQCB1 NPHP1 NPHP4
6 cilium GO:0005929 9.02 INVS NEK8 NPHP1 NPHP3 NPHP4

Biological processes related to Nephronophthisis 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.61 CEP83 IQCB1 NPHP3
2 cell projection organization GO:0030030 9.58 CEP83 IQCB1 NPHP1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.54 INVS NPHP3 NPHP4
4 determination of left/right symmetry GO:0007368 9.48 NEK8 NPHP3
5 retina development in camera-type eye GO:0060041 9.46 NPHP1 NPHP4
6 maintenance of animal organ identity GO:0048496 9.32 IQCB1 NPHP3
7 visual behavior GO:0007632 9.26 NPHP1 NPHP4
8 positive regulation of bicellular tight junction assembly GO:1903348 9.16 NPHP1 NPHP4
9 photoreceptor cell maintenance GO:0045494 9.13 IQCB1 NPHP3 NPHP4
10 ciliary basal body-plasma membrane docking GO:0097711 8.92 CEP83 IQCB1 NPHP1 NPHP4

Molecular functions related to Nephronophthisis 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.28 CEP83 INVS IQCB1 NEK8 NEK9 NPHP1

Sources for Nephronophthisis 18

3 CDC
7 CNVD
9 Cosmic
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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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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