NPHP18
MCID: NPH075
MIFTS: 41

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 56 12 73 29 6 15 71
Nphp18 56 12 73
Nephronophthisis, Type 18 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
nephronophthisis 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111125
OMIM 56 615862
OMIM Phenotypic Series 56 PS256100
MeSH 43 D052177
UMLS 71 C3890591

Summaries for Nephronophthisis 18

OMIM : 56 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 joubert syndrome 24 and joubert syndrome 8. 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 intellectual disability and hydrocephalus

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 : 73 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 24 10.2 NPHP1 CEP164
2 joubert syndrome 8 10.2 NPHP3 NPHP1
3 meckel syndrome, type 4 10.2 NPHP3 NPHP1
4 caroli disease 10.1 NPHP3 INVS
5 joubert syndrome 15 10.1 NPHP4 NPHP1
6 cogan syndrome 10.1 NPHP4 NPHP1
7 nephronophthisis-like nephropathy 1 10.1 TTC21B NPHP1
8 joubert syndrome 13 10.0 TTC21B NPHP1
9 orofaciodigital syndrome i 10.0 SCLT1 CEP89 CEP83 CEP164
10 meckel syndrome, type 2 10.0 NPHP4 NPHP1
11 nephronophthisis 4 10.0 NPHP4 NPHP1
12 meckel syndrome, type 5 9.9 NPHP4 NPHP1
13 hyperuricemic nephropathy, familial juvenile, 1 9.9 NPHP4 NPHP1
14 meckel syndrome, type 6 9.9 NPHP4 NPHP3 NPHP1
15 polycystic liver disease 1 with or without kidney cysts 9.8 NPHP4 NPHP1
16 alstrom syndrome 9.8 NPHP3 NPHP1 NEK9
17 end stage renal disease 9.7 NPHP4 NPHP3 INVS
18 joubert syndrome 4 9.7 TTC21B NPHP4 NPHP1
19 polycystic kidney disease 1 with or without polycystic liver disease 9.7 NPHP3 NEK9 INVS
20 orofaciodigital syndrome vi 9.7 NPHP1 C2CD3
21 nephronophthisis 1 9.6 NPHP4 NPHP3 NPHP1 INVS
22 bardet-biedl syndrome 6 9.6 SDCCAG8 INVS
23 juvenile nephronophthisis 9.6 NPHP4 NPHP3 NPHP1 INVS
24 nephronophthisis 19 9.6 NPHP4 NPHP3 NPHP1 INVS
25 bardet-biedl syndrome 14 9.6 SDCCAG8 NPHP3
26 meckel syndrome, type 3 9.5 NPHP4 NPHP3 NPHP1 INVS
27 polycystic kidney disease 2 with or without polycystic liver disease 9.5 NPHP4 NEK9 INVS
28 retinal aplasia 9.5 SDCCAG8 NPHP4 NPHP1
29 orofaciodigital syndrome 9.5 SCLT1 NPHP1 CEP89 CEP83 CEP164 C2CD3
30 cranioectodermal dysplasia 1 9.4 TTC21B NPHP4 NPHP1 INVS
31 nephronophthisis 14 9.3 NPHP4 NPHP1 NEK9 INVS
32 infantile nephronophthisis 9.3 TTC21B NPHP4 NPHP3 INVS CEP83
33 retinal degeneration 9.3 TTC21B NPHP4 NPHP3 NPHP1 CEP164
34 spinocerebellar ataxia 11 9.2 TTBK2 SCLT1 FBF1 CEP89 CEP83 CEP164
35 joubert syndrome 3 9.2 TTC21B NPHP4 NPHP3 NPHP1 INVS
36 ciliopathy 9.1 TTC21B SDCCAG8 NPHP4 C2CD3
37 renal-hepatic-pancreatic dysplasia 9.0 SDCCAG8 NPHP4 NPHP3 NPHP1 INVS
38 polycystic kidney disease 4 with or without polycystic liver disease 8.7 TTC21B NPHP4 NPHP3 NPHP1 NEK9 INVS
39 visceral heterotaxy 8.7 TTC21B NPHP4 NPHP3 NPHP1 NEK9 INVS
40 coach syndrome 8.6 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 C2CD3
41 leber plus disease 8.5 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 INVS
42 cystic kidney disease 8.5 TTC21B NPHP4 NPHP3 NPHP1 NEK9 INVS
43 kartagener syndrome 8.5 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 INVS
44 coloboma of macula 8.4 TTC21B SDCCAG8 SCLT1 NPHP4 NPHP3 NPHP1
45 nephronophthisis 16 8.3 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 INVS
46 nephronophthisis 11 8.1 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9
47 nephronophthisis 7 8.1 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9
48 nephronophthisis 2 8.1 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9
49 nephronophthisis 12 7.9 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9
50 nephronophthisis 13 7.9 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 hydrocephalus 31 occasional (7.5%) HP:0000238
3 strabismus 31 occasional (7.5%) HP:0000486
4 cholestasis 31 occasional (7.5%) HP:0001396
5 portal fibrosis 31 occasional (7.5%) HP:0006580
6 retinitis 31 very rare (1%) HP:0032118
7 nephronophthisis 31 HP:0000090
8 tubulointerstitial nephritis 31 HP:0001970
9 stage 5 chronic kidney disease 31 HP:0003774
10 renal tubular atrophy 31 HP:0000092
11 thickening of the glomerular basement membrane 31 HP:0004722

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
nephronophthisis
tubulointerstitial nephritis
thickening of the glomerular basement membrane
end-stage renal disease
tubular atrophy
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 C2CD3 CEP83 FBF1 INVS NPHP3 SCLT1
2 embryo MP:0005380 9.87 C2CD3 CEP83 INVS NEK9 NPHP3 TTBK2
3 mortality/aging MP:0010768 9.65 C2CD3 CEP164 CEP83 INVS NEK9 NPHP3
4 limbs/digits/tail MP:0005371 9.63 C2CD3 FBF1 SCLT1 SDCCAG8 TTBK2 TTC21B
5 renal/urinary system MP:0005367 9.23 INVS NPHP1 NPHP3 NPHP4 SCLT1 SDCCAG8

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:

40
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. 6 56
24882706 2014
2
Nephronophthisis 6
27336129 2016

Variations for Nephronophthisis 18

ClinVar genetic disease variations for Nephronophthisis 18:

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP83 NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)SNV Pathogenic 656543 12:94769688-94769688 12:94375912-94375912
2 CEP83 NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)SNV Pathogenic 578457 rs1207804224 12:94703807-94703807 12:94310031-94310031
3 CEP83 NM_016122.3(CEP83):c.1131dup (p.Arg378fs)duplication Pathogenic 854978 12:94761894-94761895 12:94368118-94368119
4 CEP83 NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs)deletion Pathogenic 836554 12:94761676-94761679 12:94367900-94367903
5 CEP83 NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)SNV Pathogenic 139540 rs587777486 12:94806146-94806146 12:94412370-94412370
6 CEP83 NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del)deletion Pathogenic 139541 rs879255575 12:94797011-94797028 12:94403235-94403252
7 CEP83 NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)SNV Pathogenic 139542 rs368619022 12:94805556-94805556 12:94411780-94411780
8 CEP83 NM_016122.3(CEP83):c.2072_2074AAC[1] (p.Gln692del)short repeat Pathogenic 139543 rs879255576 12:94702618-94702620 12:94308842-94308844
9 CEP83 NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)SNV Pathogenic 139544 rs587777487 12:94727303-94727303 12:94333527-94333527
10 CEP83 NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)SNV Pathogenic 139545 rs369483167 12:94772743-94772743 12:94378967-94378967
11 CEP83 NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)SNV Pathogenic 139546 rs587777488 12:94727305-94727305 12:94333529-94333529
12 CEP83 NM_016122.3(CEP83):c.1118A>T (p.Asp373Val)SNV Conflicting interpretations of pathogenicity 381892 rs200971081 12:94761908-94761908 12:94368132-94368132
13 CEP83 NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly)SNV Uncertain significance 392913 rs577668407 12:94761592-94761592 12:94367816-94367816
14 CEP83 NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg)SNV Uncertain significance 841958 12:94761875-94761875 12:94368099-94368099
15 CEP83 NM_016122.3(CEP83):c.790A>G (p.Arg264Gly)SNV Uncertain significance 850319 12:94772578-94772578 12:94378802-94378802
16 CEP83 NM_016122.3(CEP83):c.764A>G (p.Gln255Arg)SNV Uncertain significance 858621 12:94772604-94772604 12:94378828-94378828
17 CEP83 NM_016122.3(CEP83):c.2098G>A (p.Gly700Arg)SNV Uncertain significance 845600 12:94702597-94702597 12:94308821-94308821
18 CEP83 NM_016122.3(CEP83):c.1437_1438delinsAT (p.Ile480Phe)indel Uncertain significance 864084 12:94727397-94727398 12:94333621-94333622
19 CEP83 NM_016122.3(CEP83):c.1366G>A (p.Val456Met)SNV Uncertain significance 844499 12:94729418-94729418 12:94335642-94335642
20 CEP83 NM_016122.3(CEP83):c.1339G>A (p.Val447Ile)SNV Uncertain significance 861719 12:94761574-94761574 12:94367798-94367798
21 CEP83 NM_016122.3(CEP83):c.1291C>T (p.Arg431Trp)SNV Uncertain significance 850499 12:94761622-94761622 12:94367846-94367846
22 CEP83 NM_016122.3(CEP83):c.737A>G (p.Glu246Gly)SNV Uncertain significance 853193 12:94772631-94772631 12:94378855-94378855
23 CEP83 NM_016122.3(CEP83):c.706G>A (p.Ala236Thr)SNV Uncertain significance 839469 12:94772662-94772662 12:94378886-94378886
24 CEP83 NM_016122.3(CEP83):c.653T>C (p.Val218Ala)SNV Uncertain significance 855994 12:94772715-94772715 12:94378939-94378939
25 CEP83 NM_016122.3(CEP83):c.643C>G (p.Arg215Gly)SNV Uncertain significance 848104 12:94772725-94772725 12:94378949-94378949
26 CEP83 NM_016122.3(CEP83):c.431A>G (p.Tyr144Cys)SNV Uncertain significance 849121 12:94794744-94794744 12:94400968-94400968
27 CEP83 NM_016122.3(CEP83):c.253C>G (p.Gln85Glu)SNV Uncertain significance 860717 12:94805544-94805544 12:94411768-94411768
28 CEP83 NM_016122.3(CEP83):c.236C>T (p.Thr79Ile)SNV Uncertain significance 859223 12:94805561-94805561 12:94411785-94411785
29 CEP83 NM_016122.3(CEP83):c.76G>A (p.Gly26Ser)SNV Uncertain significance 847315 12:94806191-94806191 12:94412415-94412415
30 CEP83 NM_016122.3(CEP83):c.61G>A (p.Asp21Asn)SNV Uncertain significance 844287 12:94806206-94806206 12:94412430-94412430
31 CEP83 NM_016122.3(CEP83):c.173+3A>GSNV Uncertain significance 834518 12:94806091-94806091 12:94412315-94412315
32 CEP83 NM_016122.3(CEP83):c.796C>G (p.Leu266Val)SNV Uncertain significance 849614 12:94772572-94772572 12:94378796-94378796
33 CEP83 NM_016122.3(CEP83):c.479C>T (p.Ser160Leu)SNV Uncertain significance 578304 rs747045010 12:94794696-94794696 12:94400920-94400920
34 CEP83 NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys)SNV Uncertain significance 652817 12:94761906-94761906 12:94368130-94368130
35 CEP83 NM_016122.3(CEP83):c.860G>A (p.Ser287Asn)SNV Uncertain significance 541795 rs893839841 12:94769735-94769735 12:94375959-94375959
36 CEP83 NM_016122.3(CEP83):c.613A>G (p.Lys205Glu)SNV Uncertain significance 541794 rs770141064 12:94772755-94772755 12:94378979-94378979
37 CEP83 NM_016122.3(CEP83):c.1565T>G (p.Leu522Arg)SNV Likely benign 541796 rs150415429 12:94727270-94727270 12:94333494-94333494
38 CEP83 NM_016122.3(CEP83):c.1470T>C (p.Asn490=)SNV Likely benign 474962 rs780167307 12:94727365-94727365 12:94333589-94333589
39 CEP83 NM_016122.3(CEP83):c.417+3A>GSNV Likely benign 707130 12:94796943-94796943 12:94403167-94403167
40 CEP83 NM_016122.3(CEP83):c.1232T>C (p.Met411Thr)SNV Likely benign 767517 12:94761681-94761681 12:94367905-94367905
41 CEP83 NM_016122.3(CEP83):c.835C>T (p.Arg279Cys)SNV Likely benign 772603 12:94769760-94769760 12:94375984-94375984
42 CEP83 NM_016122.3(CEP83):c.1634G>A (p.Arg545His)SNV Likely benign 798203 12:94725549-94725549 12:94331773-94331773
43 CEP83 NM_016122.3(CEP83):c.1411C>T (p.Leu471=)SNV Benign 474961 rs139046818 12:94729373-94729373 12:94335597-94335597
44 CEP83 NM_016122.3(CEP83):c.1582T>C (p.Leu528=)SNV Benign 474963 rs199593910 12:94725601-94725601 12:94331825-94331825
45 CEP83 NM_016122.3(CEP83):c.437C>T (p.Ala146Val)SNV Benign 474965 rs115988985 12:94794738-94794738 12:94400962-94400962
46 CEP83 NM_016122.3(CEP83):c.408T>C (p.Asn136=)SNV Benign 474964 rs148769208 12:94796955-94796955 12:94403179-94403179
47 CEP83 NM_016122.3(CEP83):c.1203C>T (p.Leu401=)SNV Benign 541797 rs189675715 12:94761710-94761710 12:94367934-94367934

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

73
# 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 TTC21B TTBK2 SDCCAG8 SCLT1 NPHP4 NPHP1
2 cytosol GO:0005829 10.21 TTBK2 SDCCAG8 SCLT1 NPHP4 NPHP3 NPHP1
3 cell projection GO:0042995 9.97 TTC21B TTBK2 SDCCAG8 NPHP4 NPHP3 NPHP1
4 cytoskeleton GO:0005856 9.93 TTC21B TTBK2 SDCCAG8 SCLT1 NPHP4 NPHP1
5 cilium GO:0005929 9.88 TTC21B TTBK2 NPHP4 NPHP3 NPHP1 INVS
6 centrosome GO:0005813 9.86 SDCCAG8 SCLT1 NPHP4 NEK9 FBF1 CEP89
7 ciliary basal body GO:0036064 9.72 TTBK2 SDCCAG8 NPHP4 FBF1 C2CD3
8 cell-cell junction GO:0005911 9.69 SDCCAG8 NPHP4 NPHP1
9 photoreceptor connecting cilium GO:0032391 9.52 NPHP4 NPHP1
10 non-motile cilium GO:0097730 9.49 NPHP4 CEP89
11 ciliary transition zone GO:0035869 9.48 TTBK2 NPHP4
12 ciliary transition fiber GO:0097539 9.35 SCLT1 FBF1 CEP89 CEP83 CEP164
13 centriole GO:0005814 9.23 TTBK2 SDCCAG8 SCLT1 FBF1 CEP89 CEP83

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.76 TTBK2 SCLT1 NPHP3 FBF1 CEP89 CEP83
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.61 NPHP4 NPHP3 INVS
3 cell projection organization GO:0030030 9.56 TTBK2 SDCCAG8 NPHP1 FBF1 CEP89 CEP83
4 photoreceptor cell maintenance GO:0045494 9.46 NPHP4 NPHP3
5 regulation of smoothened signaling pathway GO:0008589 9.4 TTC21B C2CD3
6 protein localization to centrosome GO:0071539 9.37 CEP83 C2CD3
7 positive regulation of bicellular tight junction assembly GO:1903348 9.32 NPHP4 NPHP1
8 ciliary basal body-plasma membrane docking GO:0097711 9.32 TTBK2 SDCCAG8 SCLT1 NPHP4 NPHP1 FBF1
9 visual behavior GO:0007632 9.26 NPHP4 NPHP1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 TTC21B TTBK2 SDCCAG8 NPHP4 NPHP3 NPHP1

Sources for Nephronophthisis 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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