NPHP18
MCID: NPH075
MIFTS: 38

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 meckel syndrome, type 4. 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 all 50)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 24 10.1 NPHP1 CEP164
2 meckel syndrome, type 4 10.0 NPHP3 NPHP1
3 spinocerebellar ataxia 11 10.0 SCLT1 CEP83 CEP164
4 orofaciodigital syndrome i 10.0 SCLT1 CEP83 CEP164
5 retinal aplasia 10.0 SDCCAG8 NPHP1
6 nephronophthisis 1 9.9 NPHP3 NPHP1 INVS
7 interstitial nephritis 9.8 INVS CEP164
8 juvenile nephronophthisis 9.8 NPHP3 NPHP1 INVS
9 nephronophthisis 19 9.8 NPHP3 NPHP1 INVS
10 bardet-biedl syndrome 6 9.8 SDCCAG8 INVS
11 joubert syndrome 21 9.8 SDCCAG8 NPHP1 CEP164
12 caroli disease 9.8 NPHP3 NPHP1 INVS
13 meckel syndrome, type 3 9.8 NPHP3 NPHP1 INVS
14 orofaciodigital syndrome 9.7 SCLT1 NPHP1 CEP83 CEP164
15 ciliopathy 9.7 TTC21B SDCCAG8
16 joubert syndrome 4 9.6 TTC21B NPHP3 NPHP1
17 polycystic kidney disease 9.6 NPHP3 NEK8 INVS
18 cranioectodermal dysplasia 1 9.6 TTC21B NPHP1 INVS
19 alstrom syndrome 9.5 NEK9 NEK8
20 polycystic kidney disease 1 with or without polycystic liver disease 9.4 NPHP3 NEK8 INVS
21 joubert syndrome 3 9.4 TTC21B NPHP3 NPHP1 INVS
22 polycystic kidney disease 2 with or without polycystic liver disease 9.3 NEK9 NEK8 INVS
23 retinal degeneration 9.3 TTC21B NPHP3 NPHP1 CEP164
24 oligohydramnios 9.2 NEK9 NEK8
25 short-rib thoracic dysplasia 1 with or without polydactyly 9.2 TTC21B SDCCAG8 NPHP1 INVS
26 nephronophthisis 14 9.1 NPHP1 NEK9 NEK8 INVS
27 coloboma of macula 9.1 TTC21B SDCCAG8 SCLT1 NPHP3 NPHP1
28 infantile nephronophthisis 8.8 TTC21B NPHP3 NEK8 INVS CEP83
29 leber congenital amaurosis 8.7 TTC21B SDCCAG8 NPHP3 NPHP1 INVS CEP164
30 nephronophthisis 11 8.6 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 INVS
31 renal-hepatic-pancreatic dysplasia 8.4 SDCCAG8 NPHP3 NPHP1 NEK9 NEK8 INVS
32 kartagener syndrome 8.4 SDCCAG8 NPHP3 NPHP1 NEK9 NEK8 INVS
33 cystic kidney disease 8.1 TTC21B NPHP3 NPHP1 NEK9 NEK8 INVS
34 visceral heterotaxy 8.1 TTC21B NPHP3 NPHP1 NEK9 NEK8 INVS
35 nephronophthisis 15 8.0 SDCCAG8 SCLT1 NPHP1 NEK9 NEK8 INVS
36 nephronophthisis 12 8.0 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
37 nephronophthisis 2 8.0 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
38 nephronophthisis 16 8.0 SDCCAG8 NPHP3 NPHP1 NEK9 NEK8 INVS
39 nephronophthisis 13 7.7 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
40 nephronophthisis 9 7.7 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
41 nephronophthisis 7 7.7 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
42 polycystic kidney disease 4 with or without polycystic liver disease 7.7 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
43 fundus dystrophy 7.7 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
44 bardet-biedl syndrome 7.7 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
45 retinitis pigmentosa 7.7 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
46 senior-loken syndrome 1 7.5 TTC21B SDCCAG8 NPHP3 NPHP1 NEK9 NEK8
47 nephronophthisis 7.3 TTC21B SDCCAG8 SCLT1 NPHP3 NPHP1 NEK9
48 primary ciliary dyskinesia 7.2 TTC21B SDCCAG8 SCLT1 NPHP3 NPHP1 NEK9
49 meckel syndrome, type 1 7.2 TTC21B SDCCAG8 SCLT1 NPHP3 NPHP1 NEK9
50 joubert syndrome 1 7.2 TTC21B SDCCAG8 SCLT1 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 stage 5 chronic kidney disease 31 HP:0003774
9 tubulointerstitial nephritis 31 HP:0001970
10 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
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 CEP83 INVS NEK8 NEK9 NPHP3 SCLT1
2 mortality/aging MP:0010768 9.56 CEP164 CEP83 INVS NEK8 NEK9 NPHP3
3 renal/urinary system MP:0005367 9.17 INVS NEK8 NPHP1 NPHP3 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. 56 6
24882706 2014
2
Nephronophthisis 6
27336129 2016

Variations for Nephronophthisis 18

ClinVar genetic disease variations for Nephronophthisis 18:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP83 NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)SNV Pathogenic 139546 rs587777488 12:94727305-94727305 12:94333529-94333529
2 CEP83 NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)SNV Pathogenic 139545 rs369483167 12:94772743-94772743 12:94378967-94378967
3 CEP83 NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)SNV Pathogenic 139540 rs587777486 12:94806146-94806146 12:94412370-94412370
4 CEP83 NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del)deletion Pathogenic 139541 rs879255575 12:94797011-94797028 12:94403235-94403252
5 CEP83 NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)SNV Pathogenic 139542 rs368619022 12:94805556-94805556 12:94411780-94411780
6 CEP83 NM_016122.3(CEP83):c.2072_2074AAC[1] (p.Gln692del)short repeat Pathogenic 139543 rs879255576 12:94702618-94702620 12:94308842-94308844
7 CEP83 NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)SNV Pathogenic 139544 rs587777487 12:94727303-94727303 12:94333527-94333527
8 CEP83 NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)SNV Pathogenic 578457 rs1207804224 12:94703807-94703807 12:94310031-94310031
9 CEP83 NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)SNV Pathogenic 656543 12:94769688-94769688 12:94375912-94375912
10 CEP83 NM_016122.3(CEP83):c.479C>T (p.Ser160Leu)SNV Uncertain significance 578304 rs747045010 12:94794696-94794696 12:94400920-94400920
11 CEP83 NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys)SNV Uncertain significance 652817 12:94761906-94761906 12:94368130-94368130
12 CEP83 NM_016122.3(CEP83):c.860G>A (p.Ser287Asn)SNV Uncertain significance 541795 rs893839841 12:94769735-94769735 12:94375959-94375959
13 CEP83 NM_016122.3(CEP83):c.613A>G (p.Lys205Glu)SNV Uncertain significance 541794 rs770141064 12:94772755-94772755 12:94378979-94378979
14 CEP83 NM_016122.3(CEP83):c.1411C>T (p.Leu471=)SNV Benign 474961 rs139046818 12:94729373-94729373 12:94335597-94335597

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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 TTC21B SDCCAG8 NPHP3 NPHP1 NEK8 INVS
2 centrosome GO:0005813 9.77 SDCCAG8 SCLT1 NEK9 NEK8 CEP164
3 centriole GO:0005814 9.56 SDCCAG8 SCLT1 CEP83 CEP164
4 cilium GO:0005929 9.55 TTC21B NPHP3 NPHP1 NEK8 INVS
5 cytoskeleton GO:0005856 9.23 TTC21B SDCCAG8 SCLT1 NPHP1 NEK8 INVS
6 ciliary transition fiber GO:0097539 9.13 SCLT1 CEP83 CEP164

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.46 SCLT1 NPHP3 CEP83 CEP164
2 determination of left/right symmetry GO:0007368 9.26 NPHP3 NEK8
3 cell projection organization GO:0030030 9.26 SDCCAG8 NPHP1 CEP83 CEP164
4 ciliary basal body-plasma membrane docking GO:0097711 9.02 SDCCAG8 SCLT1 NPHP1 CEP83 CEP164

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....