NPHP18
MCID: NPH075
MIFTS: 37

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 57 12 74 29 6 15 72
Nphp18 57 12 74
Nephronophthisis, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
nephronophthisis 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111125
MeSH 44 D052177
UMLS 72 C3890591

Summaries for Nephronophthisis 18

OMIM : 57 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 nephronophthisis 13. 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 liver and 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 : 74 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 10.3 INVS CEP83
2 nephronophthisis 13 10.0 NPHP1 INVS
3 nephronophthisis 3 10.0 NPHP3 NPHP1
4 nephronophthisis 7 10.0 NPHP1 INVS
5 nephronophthisis 19 9.9 NPHP4 NPHP1
6 nephronophthisis 4 9.9 NPHP4 NPHP1
7 visceral heterotaxy 9.7 NPHP3 NPHP1 INVS
8 cogan syndrome 9.7 NPHP4 NPHP3 NPHP1
9 meckel syndrome, type 6 9.7 NPHP4 NPHP1 INVS
10 polycystic liver disease 1 with or without kidney cysts 9.6 NPHP4 NPHP1
11 retinitis pigmentosa 3 9.5 RCC1 IQCB1
12 nephronophthisis 16 9.5 NPHP1 IQCB1
13 apraxia 9.4 NPHP4 NPHP1
14 nephronophthisis 1 9.4 NPHP4 NPHP3 NPHP1 INVS
15 bardet-biedl syndrome 9.4 NPHP4 NPHP1 INVS
16 retinal aplasia 9.2 NPHP4 NPHP1 IQCB1
17 infantile nephronophthisis 9.2 NPHP4 NPHP3 NEK8 INVS CEP83
18 nephronophthisis 11 8.9 NPHP4 NPHP3 NPHP1 IQCB1
19 meckel syndrome, type 1 8.9 NPHP4 NPHP1 IQCB1 INVS
20 leber congenital amaurosis 8.9 NPHP4 NPHP3 NPHP1 IQCB1
21 renal-hepatic-pancreatic dysplasia 8.6 RCC1 NPHP3 NEK8 IQCB1 INVS
22 juvenile nephronophthisis 8.6 NPHP4 NPHP3 NPHP1 IQCB1 INVS
23 joubert syndrome 1 8.6 NPHP4 NPHP3 NPHP1 IQCB1 INVS
24 cystic kidney disease 8.5 NPHP4 NPHP3 NPHP1 NEK9 NEK8 INVS
25 senior-loken syndrome 1 8.2 NPHP4 NPHP3 NPHP1 NEK9 IQCB1 INVS
26 retinitis pigmentosa 8.1 RCC1 NPHP4 NPHP3 NPHP1 IQCB1 INVS
27 nephronophthisis 9 8.0 RCC1 NPHP4 NPHP3 NPHP1 NEK9 NEK8
28 nephronophthisis 2 7.8 NPHP4 NPHP3 NPHP1 NEK9 NEK8 IQCB1
29 nephronophthisis 7.5 NPHP4 NPHP3 NPHP1 NEK9 NEK8 IQCB1

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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 occasional (7.5%) HP:0000238
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 strabismus 32 occasional (7.5%) HP:0000486
4 cholestasis 32 occasional (7.5%) HP:0001396
5 portal fibrosis 32 occasional (7.5%) HP:0006580
6 retinitis 32 very rare (1%) HP:0032118
7 nephronophthisis 32 HP:0000090
8 tubulointerstitial nephritis 32 HP:0001970
9 stage 5 chronic kidney disease 32 HP:0003774
10 tubular atrophy 32 HP:0000092
11 thickening of the glomerular basement membrane 32 HP:0004722

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephronophthisis
tubulointerstitial nephritis
tubular atrophy
thickening of the glomerular basement membrane
end-stage renal disease
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:

46
# 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 29 CEP83

Anatomical Context for Nephronophthisis 18

MalaCards organs/tissues related to Nephronophthisis 18:

41
Liver, Kidney

Publications for Nephronophthisis 18

Articles related to Nephronophthisis 18:

# Title Authors PMID Year
1
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 8 71
24882706 2014
2
Nephronophthisis 71
27336129 2016

Variations for Nephronophthisis 18

ClinVar genetic disease variations for Nephronophthisis 18:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEP83 NM_016122.3(CEP83): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs587777486 12:94806146-94806146 12:94412370-94412370
2 CEP83 NM_016122.3(CEP83): c.335_352del (p.Pro112_Leu117del) deletion Pathogenic rs879255575 12:94797011-94797028 12:94403235-94403252
3 CEP83 NM_016122.3(CEP83): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs368619022 12:94805556-94805556 12:94411780-94411780
4 CEP83 NM_016122.3(CEP83): c.2072_2074AAC[1] (p.Gln692del) short repeat Pathogenic rs879255576 12:94702618-94702620 12:94308842-94308844
5 CEP83 NM_016122.3(CEP83): c.1532G> C (p.Arg511Pro) single nucleotide variant Pathogenic rs587777487 12:94727303-94727303 12:94333527-94333527
6 CEP83 NM_016122.3(CEP83): c.625C> T (p.Arg209Ter) single nucleotide variant Pathogenic rs369483167 12:94772743-94772743 12:94378967-94378967
7 CEP83 NM_016122.3(CEP83): c.1530C> A (p.Cys510Ter) single nucleotide variant Pathogenic rs587777488 12:94727305-94727305 12:94333529-94333529
8 CEP83 NM_016122.3(CEP83): c.1888C> T (p.Arg630Ter) single nucleotide variant Pathogenic 12:94703807-94703807 12:94310031-94310031
9 CEP83 NM_016122.3(CEP83): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic 12:94769688-94769688 12:94375912-94375912
10 CEP83 NM_016122.3(CEP83): c.479C> T (p.Ser160Leu) single nucleotide variant Uncertain significance 12:94794696-94794696 12:94400920-94400920
11 CEP83 NM_016122.3(CEP83): c.1120C> T (p.Arg374Cys) single nucleotide variant Uncertain significance 12:94761906-94761906 12:94368130-94368130
12 CEP83 NM_016122.3(CEP83): c.860G> A (p.Ser287Asn) single nucleotide variant Uncertain significance rs893839841 12:94769735-94769735 12:94375959-94375959
13 CEP83 NM_016122.3(CEP83): c.613A> G (p.Lys205Glu) single nucleotide variant Uncertain significance rs770141064 12:94772755-94772755 12:94378979-94378979
14 CEP83 NM_016122.3(CEP83): c.1565T> G (p.Leu522Arg) single nucleotide variant Likely benign rs150415429 12:94727270-94727270 12:94333494-94333494
15 CEP83 NM_016122.3(CEP83): c.1470T> C (p.Asn490=) single nucleotide variant Likely benign rs780167307 12:94727365-94727365 12:94333589-94333589
16 CEP83 NM_016122.3(CEP83): c.1411C> T (p.Leu471=) single nucleotide variant Benign rs139046818 12:94729373-94729373 12:94335597-94335597
17 CEP83 NM_016122.3(CEP83): c.1582T> C (p.Leu528=) single nucleotide variant Benign rs199593910 12:94725601-94725601 12:94331825-94331825
18 CEP83 NM_016122.3(CEP83): c.437C> T (p.Ala146Val) single nucleotide variant Benign rs115988985 12:94794738-94794738 12:94400962-94400962
19 CEP83 NM_016122.3(CEP83): c.408T> C (p.Asn136=) single nucleotide variant Benign rs148769208 12:94796955-94796955 12:94403179-94403179
20 CEP83 NM_016122.3(CEP83): c.1203C> T (p.Leu401=) single nucleotide variant Benign rs189675715 12:94761710-94761710 12:94367934-94367934

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

74
# Symbol AA change Variation ID SNP ID
1 CEP83 p.Leu87Pro VAR_071266
2 CEP83 p.Arg511Pro VAR_071268 rs587777487

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 RCC1 NPHP4 NPHP1 NEK9 NEK8 IQCB1
2 cell projection GO:0042995 9.65 NPHP4 NPHP3 NPHP1 NEK8 INVS
3 cytoskeleton GO:0005856 9.63 NPHP4 NPHP1 NEK8 IQCB1 INVS CEP83
4 ciliary base GO:0097546 9.32 NPHP4 NEK8
5 photoreceptor connecting cilium GO:0032391 9.13 NPHP4 NPHP1 IQCB1
6 cilium GO:0005929 9.02 NPHP4 NPHP3 NPHP1 NEK8 INVS

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

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 RCC1 NPHP4 NPHP3 NPHP1 NEK9 NEK8

Sources for Nephronophthisis 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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