MCID: NPH075
MIFTS: 21

Nephronophthisis 18

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 18

MalaCards integrated aliases for Nephronophthisis 18:

Name: Nephronophthisis 18 57 12 75 29 6 73
Nphp18 57 12 75
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:



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, is also known as nphp18. An important gene associated with Nephronophthisis 18 is CEP83 (Centrosomal Protein 83). Affiliated tissues include liver and kidney, and related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 75 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.

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

Related Diseases for Nephronophthisis 18

Symptoms & Phenotypes for Nephronophthisis 18

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nephronophthisis 18:

32 (show all 10)
# 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 nephronophthisis 32 HP:0000090
6 tubulointerstitial nephritis 32 HP:0001970
7 stage 5 chronic kidney disease 32 HP:0003774
8 tubular atrophy 32 HP:0000092
9 portal fibrosis 32 occasional (7.5%) HP:0006580
10 thickening of the glomerular basement membrane 32 HP:0004722

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

Variations for Nephronophthisis 18

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

75
# Symbol AA change Variation ID SNP ID
1 CEP83 p.Leu79Pro VAR_071266
2 CEP83 p.Arg503Pro VAR_071268

ClinVar genetic disease variations for Nephronophthisis 18:

6
(show all 32)
# 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_352del18 (p.Pro112_Leu117del) deletion Pathogenic rs879255575 GRCh37 Chromosome 12, 94797011: 94797028
4 CEP83 NM_001042399.1(CEP83): c.335_352del18 (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 GRCh37 Chromosome 12, 94729373: 94729373
24 CEP83 NM_016122.2(CEP83): c.1411C> T (p.Leu471=) single nucleotide variant Benign rs139046818 GRCh38 Chromosome 12, 94335597: 94335597
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 GRCh37 Chromosome 12, 94761710: 94761710
28 CEP83 NM_016122.2(CEP83): c.1203C> T (p.Leu401=) single nucleotide variant Benign rs189675715 GRCh38 Chromosome 12, 94367934: 94367934
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

Expression for Nephronophthisis 18

Search GEO for disease gene expression data for Nephronophthisis 18.

Pathways for Nephronophthisis 18

GO Terms for Nephronophthisis 18

Sources for Nephronophthisis 18

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