MCID: NPH069
MIFTS: 20

Nephronophthisis 15

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 15

MalaCards integrated aliases for Nephronophthisis 15:

Name: Nephronophthisis 15 57 12 75 29 13 6 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, is also known as nphp15. An important gene associated with Nephronophthisis 15 is CEP164 (Centrosomal Protein 164). Affiliated tissues include liver, and related phenotypes are nephronophthisis and retinal degeneration

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

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 nephronophthisis 32 HP:0000090
2 retinal degeneration 32 HP:0000546
3 blindness 32 occasional (7.5%) HP:0000618
4 nystagmus 32 occasional (7.5%) HP:0000639
5 seizures 32 occasional (7.5%) HP:0001250
6 global developmental delay 32 occasional (7.5%) HP:0001263
7 cerebellar vermis hypoplasia 32 occasional (7.5%) HP:0001320
8 hepatic failure 32 occasional (7.5%) HP:0001399
9 obesity 32 occasional (7.5%) HP:0001513
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 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP164 CEP164, TER1460TRP single nucleotide variant Pathogenic
2 CEP164 NM_014956.4(CEP164): c.32A> C (p.Gln11Pro) single nucleotide variant Pathogenic rs387907309 GRCh37 Chromosome 11, 117209334: 117209334
3 CEP164 NM_014956.4(CEP164): c.32A> C (p.Gln11Pro) single nucleotide variant Pathogenic rs387907309 GRCh38 Chromosome 11, 117338618: 117338618
4 CEP164 NM_014956.4(CEP164): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs387907310 GRCh37 Chromosome 11, 117222588: 117222588
5 CEP164 NM_014956.4(CEP164): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs387907310 GRCh38 Chromosome 11, 117351872: 117351872
6 CEP164 NM_014956.4(CEP164): c.1573C> T (p.Gln525Ter) single nucleotide variant Pathogenic rs387907311 GRCh37 Chromosome 11, 117252580: 117252580
7 CEP164 NM_014956.4(CEP164): c.1573C> T (p.Gln525Ter) single nucleotide variant Pathogenic rs387907311 GRCh38 Chromosome 11, 117381864: 117381864
8 CEP164 NM_014956.4(CEP164): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs145646425 GRCh37 Chromosome 11, 117257920: 117257920
9 CEP164 NM_014956.4(CEP164): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs145646425 GRCh38 Chromosome 11, 117387204: 117387204
10 CEP164 NM_014956.4(CEP164): c.1430A> G (p.His477Arg) single nucleotide variant Benign rs117083334 GRCh37 Chromosome 11, 117252437: 117252437
11 CEP164 NM_014956.4(CEP164): c.1430A> G (p.His477Arg) single nucleotide variant Benign rs117083334 GRCh38 Chromosome 11, 117381721: 117381721
12 CEP164 NM_014956.4(CEP164): c.1639G> A (p.Glu547Lys) single nucleotide variant Benign rs116343381 GRCh37 Chromosome 11, 117253573: 117253573
13 CEP164 NM_014956.4(CEP164): c.1639G> A (p.Glu547Lys) single nucleotide variant Benign rs116343381 GRCh38 Chromosome 11, 117382857: 117382857
14 CEP164 NM_014956.4(CEP164): c.2205C> T (p.Ser735=) single nucleotide variant Benign rs494553 GRCh38 Chromosome 11, 117391137: 117391137
15 CEP164 NM_014956.4(CEP164): c.2205C> T (p.Ser735=) single nucleotide variant Benign rs494553 GRCh37 Chromosome 11, 117261853: 117261853
16 CEP164 NM_014956.4(CEP164): c.2655C> T (p.Thr885=) single nucleotide variant Benign rs61737637 GRCh38 Chromosome 11, 117394388: 117394388
17 CEP164 NM_014956.4(CEP164): c.2655C> T (p.Thr885=) single nucleotide variant Benign rs61737637 GRCh37 Chromosome 11, 117265104: 117265104
18 CEP164 NM_014956.4(CEP164): c.2772C> G (p.Leu924=) single nucleotide variant Benign/Likely benign rs117473319 GRCh38 Chromosome 11, 117394931: 117394931
19 CEP164 NM_014956.4(CEP164): c.2772C> G (p.Leu924=) single nucleotide variant Benign/Likely benign rs117473319 GRCh37 Chromosome 11, 117265647: 117265647
20 CEP164 NM_014956.4(CEP164): c.3716C> T (p.Pro1239Leu) single nucleotide variant Benign rs61995733 GRCh38 Chromosome 11, 117408996: 117408996
21 CEP164 NM_014956.4(CEP164): c.3716C> T (p.Pro1239Leu) single nucleotide variant Benign rs61995733 GRCh37 Chromosome 11, 117279712: 117279712
22 CEP164 NM_014956.4(CEP164): c.3927C> T (p.Thr1309=) single nucleotide variant Benign rs115051850 GRCh38 Chromosome 11, 117409796: 117409796
23 CEP164 NM_014956.4(CEP164): c.3927C> T (p.Thr1309=) single nucleotide variant Benign rs115051850 GRCh37 Chromosome 11, 117280512: 117280512
24 CEP164 NM_014956.4(CEP164): c.3932C> G (p.Thr1311Ser) single nucleotide variant Benign rs61743854 GRCh37 Chromosome 11, 117280517: 117280517
25 CEP164 NM_014956.4(CEP164): c.3932C> G (p.Thr1311Ser) single nucleotide variant Benign rs61743854 GRCh38 Chromosome 11, 117409801: 117409801
26 CEP164 NM_014956.4(CEP164): c.4119C> T (p.Asn1373=) single nucleotide variant Benign rs73016324 GRCh38 Chromosome 11, 117410850: 117410850
27 CEP164 NM_014956.4(CEP164): c.4119C> T (p.Asn1373=) single nucleotide variant Benign rs73016324 GRCh37 Chromosome 11, 117281566: 117281566
28 CEP164 NM_014956.4(CEP164): c.1438C> T (p.Arg480Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs112209873 GRCh37 Chromosome 11, 117252445: 117252445
29 CEP164 NM_014956.4(CEP164): c.1438C> T (p.Arg480Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs112209873 GRCh38 Chromosome 11, 117381729: 117381729
30 CEP164 NM_014956.4(CEP164): c.3001C> G (p.Leu1001Val) single nucleotide variant Uncertain significance rs199637319 GRCh37 Chromosome 11, 117266350: 117266350
31 CEP164 NM_014956.4(CEP164): c.3001C> G (p.Leu1001Val) single nucleotide variant Uncertain significance rs199637319 GRCh38 Chromosome 11, 117395634: 117395634
32 CEP164 NM_014956.4(CEP164): c.1692G> A (p.Ala564=) single nucleotide variant Likely benign rs143512199 GRCh37 Chromosome 11, 117253626: 117253626
33 CEP164 NM_014956.4(CEP164): c.1692G> A (p.Ala564=) single nucleotide variant Likely benign rs143512199 GRCh38 Chromosome 11, 117382910: 117382910
34 CEP164 NM_014956.4(CEP164): c.4053G> A (p.Thr1351=) single nucleotide variant Benign rs373842310 GRCh37 Chromosome 11, 117280638: 117280638
35 CEP164 NM_014956.4(CEP164): c.4053G> A (p.Thr1351=) single nucleotide variant Benign rs373842310 GRCh38 Chromosome 11, 117409922: 117409922
36 CEP164 NM_014956.4(CEP164): c.748G> A (p.Gly250Ser) single nucleotide variant Benign rs146501105 GRCh38 Chromosome 11, 117363489: 117363489
37 CEP164 NM_014956.4(CEP164): c.748G> A (p.Gly250Ser) single nucleotide variant Benign rs146501105 GRCh37 Chromosome 11, 117234205: 117234205
38 CEP164 NM_014956.4(CEP164): c.3107C> T (p.Ala1036Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 117266787: 117266787
39 CEP164 NM_014956.4(CEP164): c.3107C> T (p.Ala1036Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 117396071: 117396071
40 CEP164 NM_014956.4(CEP164): c.3717G> A (p.Pro1239=) single nucleotide variant Likely benign rs149567170 GRCh38 Chromosome 11, 117408997: 117408997
41 CEP164 NM_014956.4(CEP164): c.3717G> A (p.Pro1239=) single nucleotide variant Likely benign rs149567170 GRCh37 Chromosome 11, 117279713: 117279713
42 CEP164 NM_014956.4(CEP164): c.1409+10G> A single nucleotide variant Benign rs199783386 GRCh38 Chromosome 11, 117380715: 117380715
43 CEP164 NM_014956.4(CEP164): c.1409+10G> A single nucleotide variant Benign rs199783386 GRCh37 Chromosome 11, 117251431: 117251431
44 CEP164 NM_014956.4(CEP164): c.3806G> A (p.Arg1269Gln) single nucleotide variant Likely benign rs150963269 GRCh38 Chromosome 11, 117409675: 117409675
45 CEP164 NM_014956.4(CEP164): c.3806G> A (p.Arg1269Gln) single nucleotide variant Likely benign rs150963269 GRCh37 Chromosome 11, 117280391: 117280391
46 CEP164 NM_014956.4(CEP164): c.2427G> A (p.Lys809=) single nucleotide variant Likely benign rs201002987 GRCh38 Chromosome 11, 117392561: 117392561
47 CEP164 NM_014956.4(CEP164): c.2427G> A (p.Lys809=) single nucleotide variant Likely benign rs201002987 GRCh37 Chromosome 11, 117263277: 117263277
48 CEP164 NM_014956.4(CEP164): c.2844+8A> G single nucleotide variant Likely benign rs142545580 GRCh38 Chromosome 11, 117395011: 117395011
49 CEP164 NM_014956.4(CEP164): c.2844+8A> G single nucleotide variant Likely benign rs142545580 GRCh37 Chromosome 11, 117265727: 117265727
50 CEP164 NM_014956.4(CEP164): c.3216+20_3216+33delCTGGGGGCTGGGGC deletion Benign GRCh38 Chromosome 11, 117396200: 117396213

Expression for Nephronophthisis 15

Search GEO for disease gene expression data for Nephronophthisis 15.

Pathways for Nephronophthisis 15

GO Terms for Nephronophthisis 15

Sources for Nephronophthisis 15

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