NPHP15
MCID: NPH069
MIFTS: 32

Nephronophthisis 15 (NPHP15)

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

Aliases & Classifications for Nephronophthisis 15

MalaCards integrated aliases for Nephronophthisis 15:

Name: Nephronophthisis 15 57 12 75 29 13 6 15 73
Nphp15 57 12 75
Nephronophthisis, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
four families have been reported (last curated october 2012)


HPO:

32
nephronophthisis 15:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 15

UniProtKB/Swiss-Prot : 75 Nephronophthisis 15: An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end- stage renal failure.

MalaCards based summary : Nephronophthisis 15, also known as nphp15, is related to bardet-biedl syndrome 11 and bardet-biedl syndrome 5. An important gene associated with Nephronophthisis 15 is CEP164 (Centrosomal Protein 164), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include liver, and related phenotypes are obesity and nystagmus

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.

Description from OMIM: 614845

Related Diseases for Nephronophthisis 15

Graphical network of the top 20 diseases related to Nephronophthisis 15:



Diseases related to Nephronophthisis 15

Symptoms & Phenotypes for Nephronophthisis 15

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephronophthisis

Neurologic Central Nervous System:
seizures (in 1 patient)
developmental delay (in 1 patient)
cerebellar vermis hypoplasia (in 1 patient)

Abdomen Liver:
liver failure (in some patients)

Head And Neck Eyes:
retinal degeneration
blindness (in some patients)
leber congenital amaurosis
nystagmus (in 1 patient)

Growth Weight:
obesity (in some patients)

Skeletal Hands:
polydactyly (in 1 patient)


Clinical features from OMIM:

614845

Human phenotypes related to Nephronophthisis 15:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 obesity 32 occasional (7.5%) HP:0001513
2 nystagmus 32 occasional (7.5%) HP:0000639
3 seizures 32 occasional (7.5%) HP:0001250
4 global developmental delay 32 occasional (7.5%) HP:0001263
5 blindness 32 occasional (7.5%) HP:0000618
6 hepatic failure 32 occasional (7.5%) HP:0001399
7 nephronophthisis 32 HP:0000090
8 cerebellar vermis hypoplasia 32 occasional (7.5%) HP:0001320
9 retinal degeneration 32 HP:0000546
10 polydactyly 32 occasional (7.5%) HP:0010442

Drugs & Therapeutics for Nephronophthisis 15

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 15

Genetic Tests for Nephronophthisis 15

Genetic tests related to Nephronophthisis 15:

# Genetic test Affiliating Genes
1 Nephronophthisis 15 29 CEP164

Anatomical Context for Nephronophthisis 15

MalaCards organs/tissues related to Nephronophthisis 15:

41
Liver

Publications for Nephronophthisis 15

Variations for Nephronophthisis 15

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 15:

75
# Symbol AA change Variation ID SNP ID
1 CEP164 p.Gln11Pro VAR_068503 rs387907309
2 CEP164 p.Arg93Trp VAR_068504 rs387907310

ClinVar genetic disease variations for Nephronophthisis 15:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP164 NM_014956.4(CEP164): c.4381T> C (p.Ter1461Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 117412166: 117412166
2 CEP164 NM_014956.4(CEP164): c.4381T> C (p.Ter1461Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 117282882: 117282882
3 CEP164 NM_014956.4(CEP164): c.32A> C (p.Gln11Pro) single nucleotide variant Pathogenic rs387907309 GRCh37 Chromosome 11, 117209334: 117209334
4 CEP164 NM_014956.4(CEP164): c.32A> C (p.Gln11Pro) single nucleotide variant Pathogenic rs387907309 GRCh38 Chromosome 11, 117338618: 117338618
5 CEP164 NM_014956.4(CEP164): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs387907310 GRCh37 Chromosome 11, 117222588: 117222588
6 CEP164 NM_014956.4(CEP164): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs387907310 GRCh38 Chromosome 11, 117351872: 117351872
7 CEP164 NM_014956.4(CEP164): c.1573C> T (p.Gln525Ter) single nucleotide variant Pathogenic rs387907311 GRCh37 Chromosome 11, 117252580: 117252580
8 CEP164 NM_014956.4(CEP164): c.1573C> T (p.Gln525Ter) single nucleotide variant Pathogenic rs387907311 GRCh38 Chromosome 11, 117381864: 117381864
9 CEP164 NM_014956.4(CEP164): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs145646425 GRCh37 Chromosome 11, 117257920: 117257920
10 CEP164 NM_014956.4(CEP164): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs145646425 GRCh38 Chromosome 11, 117387204: 117387204
11 CEP164 NM_014956.4(CEP164): c.1430A> G (p.His477Arg) single nucleotide variant Benign rs117083334 GRCh37 Chromosome 11, 117252437: 117252437
12 CEP164 NM_014956.4(CEP164): c.1430A> G (p.His477Arg) single nucleotide variant Benign rs117083334 GRCh38 Chromosome 11, 117381721: 117381721
13 CEP164 NM_014956.4(CEP164): c.1639G> A (p.Glu547Lys) single nucleotide variant Benign rs116343381 GRCh37 Chromosome 11, 117253573: 117253573
14 CEP164 NM_014956.4(CEP164): c.1639G> A (p.Glu547Lys) single nucleotide variant Benign rs116343381 GRCh38 Chromosome 11, 117382857: 117382857
15 CEP164 NM_014956.4(CEP164): c.2205C> T (p.Ser735=) single nucleotide variant Benign rs494553 GRCh38 Chromosome 11, 117391137: 117391137
16 CEP164 NM_014956.4(CEP164): c.2205C> T (p.Ser735=) single nucleotide variant Benign rs494553 GRCh37 Chromosome 11, 117261853: 117261853
17 CEP164 NM_014956.4(CEP164): c.2655C> T (p.Thr885=) single nucleotide variant Benign rs61737637 GRCh38 Chromosome 11, 117394388: 117394388
18 CEP164 NM_014956.4(CEP164): c.2655C> T (p.Thr885=) single nucleotide variant Benign rs61737637 GRCh37 Chromosome 11, 117265104: 117265104
19 CEP164 NM_014956.4(CEP164): c.2772C> G (p.Leu924=) single nucleotide variant Benign/Likely benign rs117473319 GRCh38 Chromosome 11, 117394931: 117394931
20 CEP164 NM_014956.4(CEP164): c.2772C> G (p.Leu924=) single nucleotide variant Benign/Likely benign rs117473319 GRCh37 Chromosome 11, 117265647: 117265647
21 CEP164 NM_014956.4(CEP164): c.3716C> T (p.Pro1239Leu) single nucleotide variant Benign rs61995733 GRCh38 Chromosome 11, 117408996: 117408996
22 CEP164 NM_014956.4(CEP164): c.3716C> T (p.Pro1239Leu) single nucleotide variant Benign rs61995733 GRCh37 Chromosome 11, 117279712: 117279712
23 CEP164 NM_014956.4(CEP164): c.3927C> T (p.Thr1309=) single nucleotide variant Benign rs115051850 GRCh38 Chromosome 11, 117409796: 117409796
24 CEP164 NM_014956.4(CEP164): c.3927C> T (p.Thr1309=) single nucleotide variant Benign rs115051850 GRCh37 Chromosome 11, 117280512: 117280512
25 CEP164 NM_014956.4(CEP164): c.3932C> G (p.Thr1311Ser) single nucleotide variant Benign rs61743854 GRCh37 Chromosome 11, 117280517: 117280517
26 CEP164 NM_014956.4(CEP164): c.3932C> G (p.Thr1311Ser) single nucleotide variant Benign rs61743854 GRCh38 Chromosome 11, 117409801: 117409801
27 CEP164 NM_014956.4(CEP164): c.4119C> T (p.Asn1373=) single nucleotide variant Benign rs73016324 GRCh38 Chromosome 11, 117410850: 117410850
28 CEP164 NM_014956.4(CEP164): c.4119C> T (p.Asn1373=) single nucleotide variant Benign rs73016324 GRCh37 Chromosome 11, 117281566: 117281566
29 CEP164 NM_014956.4(CEP164): c.4228C> T (p.Gln1410Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs147398904 GRCh37 Chromosome 11, 117282575: 117282575
30 CEP164 NM_014956.4(CEP164): c.4228C> T (p.Gln1410Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs147398904 GRCh38 Chromosome 11, 117411859: 117411859
31 CEP164 NM_014956.4(CEP164): c.1438C> T (p.Arg480Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs112209873 GRCh37 Chromosome 11, 117252445: 117252445
32 CEP164 NM_014956.4(CEP164): c.1438C> T (p.Arg480Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs112209873 GRCh38 Chromosome 11, 117381729: 117381729
33 CEP164 NM_014956.4(CEP164): c.3001C> G (p.Leu1001Val) single nucleotide variant Uncertain significance rs199637319 GRCh37 Chromosome 11, 117266350: 117266350
34 CEP164 NM_014956.4(CEP164): c.3001C> G (p.Leu1001Val) single nucleotide variant Uncertain significance rs199637319 GRCh38 Chromosome 11, 117395634: 117395634
35 CEP164 NM_014956.4(CEP164): c.3107C> T (p.Ala1036Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 117266787: 117266787
36 CEP164 NM_014956.4(CEP164): c.1692G> A (p.Ala564=) single nucleotide variant Likely benign rs143512199 GRCh37 Chromosome 11, 117253626: 117253626
37 CEP164 NM_014956.4(CEP164): c.1692G> A (p.Ala564=) single nucleotide variant Likely benign rs143512199 GRCh38 Chromosome 11, 117382910: 117382910
38 CEP164 NM_014956.4(CEP164): c.4053G> A (p.Thr1351=) single nucleotide variant Benign rs373842310 GRCh37 Chromosome 11, 117280638: 117280638
39 CEP164 NM_014956.4(CEP164): c.4053G> A (p.Thr1351=) single nucleotide variant Benign rs373842310 GRCh38 Chromosome 11, 117409922: 117409922
40 CEP164 NM_014956.4(CEP164): c.748G> A (p.Gly250Ser) single nucleotide variant Benign rs146501105 GRCh37 Chromosome 11, 117234205: 117234205
41 CEP164 NM_014956.4(CEP164): c.748G> A (p.Gly250Ser) single nucleotide variant Benign rs146501105 GRCh38 Chromosome 11, 117363489: 117363489
42 CEP164 NM_014956.4(CEP164): c.3107C> T (p.Ala1036Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 117396071: 117396071
43 CEP164 NM_014956.4(CEP164): c.3717G> A (p.Pro1239=) single nucleotide variant Likely benign rs149567170 GRCh37 Chromosome 11, 117279713: 117279713
44 CEP164 NM_014956.4(CEP164): c.3717G> A (p.Pro1239=) single nucleotide variant Likely benign rs149567170 GRCh38 Chromosome 11, 117408997: 117408997
45 CEP164 NM_014956.4(CEP164): c.1409+10G> A single nucleotide variant Benign rs199783386 GRCh38 Chromosome 11, 117380715: 117380715
46 CEP164 NM_014956.4(CEP164): c.1409+10G> A single nucleotide variant Benign rs199783386 GRCh37 Chromosome 11, 117251431: 117251431
47 CEP164 NM_014956.4(CEP164): c.3806G> A (p.Arg1269Gln) single nucleotide variant Likely benign rs150963269 GRCh38 Chromosome 11, 117409675: 117409675
48 CEP164 NM_014956.4(CEP164): c.3806G> A (p.Arg1269Gln) single nucleotide variant Likely benign rs150963269 GRCh37 Chromosome 11, 117280391: 117280391
49 CEP164 NM_014956.4(CEP164): c.2427G> A (p.Lys809=) single nucleotide variant Likely benign rs201002987 GRCh38 Chromosome 11, 117392561: 117392561
50 CEP164 NM_014956.4(CEP164): c.2427G> A (p.Lys809=) single nucleotide variant Likely benign rs201002987 GRCh37 Chromosome 11, 117263277: 117263277

Expression for Nephronophthisis 15

Search GEO for disease gene expression data for Nephronophthisis 15.

Pathways for Nephronophthisis 15

Pathways related to Nephronophthisis 15 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 BBS5 BBS9 CEP164 CEP83 SCLT1
2
Show member pathways
10.99 BBS5 BBS9

GO Terms for Nephronophthisis 15

Cellular components related to Nephronophthisis 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.63 BBS5 BBS9 CEP164 CEP83 INVS SCLT1
2 cilium GO:0005929 9.54 BBS5 BBS9 INVS
3 ciliary basal body GO:0036064 9.43 BBS5 ENSG00000251569
4 centriole GO:0005814 9.43 CEP164 CEP83 SCLT1
5 ciliary membrane GO:0060170 9.4 BBS5 BBS9
6 centriolar satellite GO:0034451 9.32 BBS5 BBS9
7 BBSome GO:0034464 9.13 BBS5 BBS9 ENSG00000251569
8 ciliary transition fiber GO:0097539 8.8 CEP164 CEP83 SCLT1

Biological processes related to Nephronophthisis 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.33 CEP164 CEP83 SCLT1
2 cell projection organization GO:0030030 9.26 BBS5 BBS9 CEP164 CEP83
3 cilium assembly GO:0060271 9.02 BBS5 BBS9 CEP164 CEP83 SCLT1

Sources for Nephronophthisis 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....