NPHP16
MCID: NPH068
MIFTS: 36

Nephronophthisis 16 (NPHP16)

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

Aliases & Classifications for Nephronophthisis 16

MalaCards integrated aliases for Nephronophthisis 16:

Name: Nephronophthisis 16 57 12 75 29 6 15 73
Nphp16 57 12 75
Nephronophthisis, Type 16 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
some patients show onset in childhood
progressive renal disorder


HPO:

32
nephronophthisis 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 16

UniProtKB/Swiss-Prot : 75 Nephronophthisis 16: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.

MalaCards based summary : Nephronophthisis 16, also known as nphp16, is related to nephronophthisis 18 and nephronophthisis 2. An important gene associated with Nephronophthisis 16 is ANKS6 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney and liver, and related phenotypes are renal insufficiency and hypertrophic cardiomyopathy

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous mutation in the ANKS6 gene on chromosome 9q22.

Description from OMIM: 615382

Related Diseases for Nephronophthisis 16

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 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 18 10.0 IQCB1 NPHP1
2 nephronophthisis 2 10.0 IQCB1 NPHP1
3 renal dysplasia, cystic 10.0 BICC1 CEP290
4 joubert syndrome 17 10.0 CEP290 NPHP1
5 joubert syndrome 6 10.0 CEP290 NPHP1
6 juvenile nephronophthisis 10.0 ANKS6 IQCB1 NPHP1
7 meckel syndrome, type 3 10.0 CEP290 NPHP1
8 leber congenital amaurosis 10 10.0 CEP290 IQCB1
9 nephronophthisis 9 10.0 ANKS6 HIF1AN NPHP1
10 bietti crystalline corneoretinal dystrophy 9.9 CEP290 IQCB1
11 bardet-biedl syndrome 13 9.9 CEP290 SDCCAG8
12 renal dysplasia 9.9 BICC1 CEP290 SDCCAG8
13 meckel syndrome, type 1 9.9 CEP290 IQCB1 NPHP1
14 joubert syndrome 1 9.9 CEP290 IQCB1 NPHP1
15 leber congenital amaurosis 9.8 CEP290 IQCB1 NPHP1
16 fundus dystrophy 9.8 CEP290 IQCB1 NPHP1
17 bardet-biedl syndrome 9.7 CEP290 NPHP1 SDCCAG8
18 retinal aplasia 9.7 CEP290 IQCB1 NPHP1 SDCCAG8
19 nephronophthisis 11 9.7 CEP290 IQCB1 NPHP1 SDCCAG8
20 senior-loken syndrome 1 9.7 CEP290 IQCB1 NPHP1 SDCCAG8
21 nephronophthisis 9.6 ANKS6 CEP290 IQCB1 NPHP1 SDCCAG8
22 retinitis pigmentosa 9.5 CEP290 IQCB1 NPHP1 SDCCAG8

Graphical network of the top 20 diseases related to Nephronophthisis 16:



Diseases related to Nephronophthisis 16

Symptoms & Phenotypes for Nephronophthisis 16

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatic fibrosis
cholestasis

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)
aortic stenosis (in some patients)
pulmonic stenosis (in some patients)

Genitourinary Kidneys:
renal failure
polycystic kidney disease
enlarged kidneys

Abdomen:
situs inversus (in some patients)


Clinical features from OMIM:

615382

Human phenotypes related to Nephronophthisis 16:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
3 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
4 hepatic fibrosis 32 HP:0001395
5 polycystic kidney dysplasia 32 HP:0000113
6 cholestasis 32 HP:0001396
7 pulmonic stenosis 32 occasional (7.5%) HP:0001642
8 nephronophthisis 32 HP:0000090
9 situs inversus totalis 32 occasional (7.5%) HP:0001696
10 enlarged kidney 32 HP:0000105
11 aortic valve stenosis 32 occasional (7.5%) HP:0001650

MGI Mouse Phenotypes related to Nephronophthisis 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.35 ANKS6 BICC1 CEP290 CYS1 HIF1AN
2 renal/urinary system MP:0005367 9.1 BICC1 CEP290 CR2 CYS1 NPHP1 SDCCAG8

Drugs & Therapeutics for Nephronophthisis 16

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 16

Genetic Tests for Nephronophthisis 16

Genetic tests related to Nephronophthisis 16:

# Genetic test Affiliating Genes
1 Nephronophthisis 16 29 ANKS6

Anatomical Context for Nephronophthisis 16

MalaCards organs/tissues related to Nephronophthisis 16:

41
Kidney, Liver

Publications for Nephronophthisis 16

Variations for Nephronophthisis 16

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 16:

75
# Symbol AA change Variation ID SNP ID
1 ANKS6 p.Ala312Pro VAR_070106
2 ANKS6 p.Gln441Arg VAR_070108 rs377750405

ClinVar genetic disease variations for Nephronophthisis 16:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKS6 NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg) single nucleotide variant Pathogenic rs377750405 GRCh37 Chromosome 9, 101542517: 101542517
2 ANKS6 NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg) single nucleotide variant Pathogenic rs377750405 GRCh38 Chromosome 9, 98780235: 98780235
3 ANKS6 NM_173551.4(ANKS6): c.1973-3C> G single nucleotide variant Likely pathogenic rs397514257 GRCh37 Chromosome 9, 101530535: 101530535
4 ANKS6 NM_173551.4(ANKS6): c.1973-3C> G single nucleotide variant Likely pathogenic rs397514257 GRCh38 Chromosome 9, 98768253: 98768253
5 ANKS6 NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs) deletion Pathogenic rs587777024 GRCh37 Chromosome 9, 101530441: 101530451
6 ANKS6 NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs) deletion Pathogenic rs587777024 GRCh38 Chromosome 9, 98768159: 98768169
7 ANKS6 NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del) deletion Pathogenic rs587777025 GRCh37 Chromosome 9, 101513333: 101513335
8 ANKS6 NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del) deletion Pathogenic rs587777025 GRCh38 Chromosome 9, 98751051: 98751053
9 ANKS6 NM_173551.4(ANKS6): c.2512-2A> C single nucleotide variant Pathogenic rs397514258 GRCh37 Chromosome 9, 101498907: 101498907
10 ANKS6 NM_173551.4(ANKS6): c.2512-2A> C single nucleotide variant Pathogenic rs397514258 GRCh38 Chromosome 9, 98736625: 98736625
11 ANKS6 NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala) single nucleotide variant Benign rs79414550 GRCh37 Chromosome 9, 101518825: 101518825
12 ANKS6 NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala) single nucleotide variant Benign rs79414550 GRCh38 Chromosome 9, 98756543: 98756543
13 ANKS6 NM_173551.4(ANKS6): c.1767G> A (p.Ala589=) single nucleotide variant Benign rs115807585 GRCh37 Chromosome 9, 101536213: 101536213
14 ANKS6 NM_173551.4(ANKS6): c.1767G> A (p.Ala589=) single nucleotide variant Benign rs115807585 GRCh38 Chromosome 9, 98773931: 98773931
15 ANKS6 NM_173551.4(ANKS6): c.1533A> C (p.Ala511=) single nucleotide variant Benign/Likely benign rs200743968 GRCh37 Chromosome 9, 101540542: 101540542
16 ANKS6 NM_173551.4(ANKS6): c.1533A> C (p.Ala511=) single nucleotide variant Benign/Likely benign rs200743968 GRCh38 Chromosome 9, 98778260: 98778260
17 ANKS6 NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp) single nucleotide variant Benign rs41283630 GRCh37 Chromosome 9, 101552584: 101552584
18 ANKS6 NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp) single nucleotide variant Benign rs41283630 GRCh38 Chromosome 9, 98790302: 98790302
19 ANKS6 NM_173551.4(ANKS6): c.585G> A (p.Leu195=) single nucleotide variant Benign rs75634918 GRCh37 Chromosome 9, 101552663: 101552663
20 ANKS6 NM_173551.4(ANKS6): c.585G> A (p.Leu195=) single nucleotide variant Benign rs75634918 GRCh38 Chromosome 9, 98790381: 98790381
21 ANKS6 NM_173551.4(ANKS6): c.537A> G (p.Gln179=) single nucleotide variant Benign/Likely benign rs200417280 GRCh37 Chromosome 9, 101552711: 101552711
22 ANKS6 NM_173551.4(ANKS6): c.537A> G (p.Gln179=) single nucleotide variant Benign/Likely benign rs200417280 GRCh38 Chromosome 9, 98790429: 98790429
23 ANKS6 NM_173551.4(ANKS6): c.1902G> A (p.Ser634=) single nucleotide variant Likely benign rs765475331 GRCh37 Chromosome 9, 101533248: 101533248
24 ANKS6 NM_173551.4(ANKS6): c.1902G> A (p.Ser634=) single nucleotide variant Likely benign rs765475331 GRCh38 Chromosome 9, 98770966: 98770966
25 ANKS6 NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser) single nucleotide variant Uncertain significance rs201297615 GRCh37 Chromosome 9, 101544853: 101544853
26 ANKS6 NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser) single nucleotide variant Uncertain significance rs201297615 GRCh38 Chromosome 9, 98782571: 98782571
27 ANKS6 NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr) single nucleotide variant Benign rs200419394 GRCh37 Chromosome 9, 101552590: 101552590
28 ANKS6 NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr) single nucleotide variant Benign rs200419394 GRCh38 Chromosome 9, 98790308: 98790308
29 ANKS6 NM_173551.4(ANKS6): c.193G> T (p.Val65Phe) single nucleotide variant Likely benign rs745881769 GRCh37 Chromosome 9, 101558581: 101558581
30 ANKS6 NM_173551.4(ANKS6): c.193G> T (p.Val65Phe) single nucleotide variant Likely benign rs745881769 GRCh38 Chromosome 9, 98796299: 98796299
31 ANKS6 NM_173551.4(ANKS6): c.2564T> C (p.Phe855Ser) single nucleotide variant Likely benign rs200644058 GRCh37 Chromosome 9, 101498853: 101498853
32 ANKS6 NM_173551.4(ANKS6): c.2564T> C (p.Phe855Ser) single nucleotide variant Likely benign rs200644058 GRCh38 Chromosome 9, 98736571: 98736571
33 ANKS6 NM_173551.4(ANKS6): c.2327A> G (p.Asp776Gly) single nucleotide variant Uncertain significance rs372265310 GRCh37 Chromosome 9, 101513378: 101513378
34 ANKS6 NM_173551.4(ANKS6): c.2327A> G (p.Asp776Gly) single nucleotide variant Uncertain significance rs372265310 GRCh38 Chromosome 9, 98751096: 98751096
35 ANKS6 NM_173551.4(ANKS6): c.1782C> T (p.Ala594=) single nucleotide variant Benign rs78732864 GRCh37 Chromosome 9, 101536198: 101536198
36 ANKS6 NM_173551.4(ANKS6): c.1782C> T (p.Ala594=) single nucleotide variant Benign rs78732864 GRCh38 Chromosome 9, 98773916: 98773916
37 ANKS6 NM_173551.4(ANKS6): c.1731G> A (p.Thr577=) single nucleotide variant Likely benign rs201821907 GRCh37 Chromosome 9, 101536249: 101536249
38 ANKS6 NM_173551.4(ANKS6): c.1731G> A (p.Thr577=) single nucleotide variant Likely benign rs201821907 GRCh38 Chromosome 9, 98773967: 98773967
39 ANKS6 NM_173551.4(ANKS6): c.1077T> C (p.His359=) single nucleotide variant Likely benign rs369418562 GRCh37 Chromosome 9, 101546270: 101546270
40 ANKS6 NM_173551.4(ANKS6): c.1077T> C (p.His359=) single nucleotide variant Likely benign rs369418562 GRCh38 Chromosome 9, 98783988: 98783988
41 ANKS6 NM_173551.4(ANKS6): c.1913C> T (p.Ser638Leu) single nucleotide variant Uncertain significance rs200373053 GRCh37 Chromosome 9, 101533237: 101533237
42 ANKS6 NM_173551.4(ANKS6): c.1913C> T (p.Ser638Leu) single nucleotide variant Uncertain significance rs200373053 GRCh38 Chromosome 9, 98770955: 98770955
43 ANKS6 NM_173551.4(ANKS6): c.413A> G (p.Asn138Ser) single nucleotide variant Uncertain significance rs374511363 GRCh37 Chromosome 9, 101552835: 101552835
44 ANKS6 NM_173551.4(ANKS6): c.413A> G (p.Asn138Ser) single nucleotide variant Uncertain significance rs374511363 GRCh38 Chromosome 9, 98790553: 98790553
45 ANKS6 NM_173551.4(ANKS6): c.2310C> T (p.Gly770=) single nucleotide variant Uncertain significance rs181456709 GRCh37 Chromosome 9, 101518718: 101518718
46 ANKS6 NM_173551.4(ANKS6): c.2310C> T (p.Gly770=) single nucleotide variant Uncertain significance rs181456709 GRCh38 Chromosome 9, 98756436: 98756436
47 ANKS6 NM_173551.4(ANKS6): c.847G> A (p.Val283Ile) single nucleotide variant Uncertain significance rs748439897 GRCh37 Chromosome 9, 101552401: 101552401
48 ANKS6 NM_173551.4(ANKS6): c.847G> A (p.Val283Ile) single nucleotide variant Uncertain significance rs748439897 GRCh38 Chromosome 9, 98790119: 98790119
49 ANKS6 NM_173551.4(ANKS6): c.532G> A (p.Glu178Lys) single nucleotide variant Uncertain significance rs181546859 GRCh37 Chromosome 9, 101552716: 101552716
50 ANKS6 NM_173551.4(ANKS6): c.532G> A (p.Glu178Lys) single nucleotide variant Uncertain significance rs181546859 GRCh38 Chromosome 9, 98790434: 98790434

Expression for Nephronophthisis 16

Search GEO for disease gene expression data for Nephronophthisis 16.

Pathways for Nephronophthisis 16

GO Terms for Nephronophthisis 16

Cellular components related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.72 CEP290 CYS1 IQCB1 NPHP1 SDCCAG8
2 cell projection GO:0042995 9.67 ANKS6 CEP290 CYS1 NPHP1
3 centriole GO:0005814 9.33 CEP290 IQCB1 SDCCAG8
4 centriolar satellite GO:0034451 9.26 CEP290 SDCCAG8
5 cilium GO:0005929 9.26 ANKS6 CEP290 CYS1 NPHP1
6 photoreceptor connecting cilium GO:0032391 8.8 CEP290 IQCB1 NPHP1
7 cytoplasm GO:0005737 10.01 ANKS6 BICC1 CEP290 CYS1 HIF1AN IQCB1

Biological processes related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 CEP290 SDCCAG8
2 cell projection organization GO:0030030 9.13 CEP290 IQCB1 NPHP1
3 ciliary basal body-plasma membrane docking GO:0097711 8.92 CEP290 IQCB1 NPHP1 SDCCAG8

Sources for Nephronophthisis 16

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....