Nephronophthisis 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NPHP16 MCID: NPH068 MIFTS: 44	Nephronophthisis 16 (NPHP16) Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Nephronophthisis 16

MalaCards integrated aliases for Nephronophthisis 16:

Name: Nephronophthisis 16 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Nphp16 ⁵⁶ ¹² ⁷³

Nephronophthisis, Type 16 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

nephronophthisis 16:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Neuronal diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111124

OMIM ⁵⁶ 615382

OMIM Phenotypic Series ⁵⁶ PS256100

MeSH ⁴³ D052177

MedGen ⁴¹ C3809320 CN179770

UMLS ⁷¹ C3809320

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Summaries for Nephronophthisis 16

UniProtKB/Swiss-Prot : ⁷³ 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 caroli disease and bardet-biedl syndrome 18. 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 hypertrophic cardiomyopathy and patent ductus arteriosus

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

More information from OMIM: 615382 PS256100

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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 top 50) (show all 92)

#	Related Disease	Score	Top Affiliating Genes
1	caroli disease	10.2	NPHP3 INVS
2	bardet-biedl syndrome 18	10.2	SDCCAG8 MKS1
3	bardet-biedl syndrome 16	10.2	SDCCAG8 MKS1
4	nephronophthisis 4	10.1	NPHP4 NPHP1
5	renal dysplasia, cystic	10.1	NPHP3 CEP290
6	retinal ciliopathy	10.1	IQCB1 CEP290
7	hyperuricemic nephropathy, familial juvenile, 1	10.1	NPHP4 NPHP1
8	simpson-golabi-behmel syndrome, type 2	10.0	SDCCAG8 CEP290
9	joubert syndrome 14	10.0	TMEM107 NPHP4
10	joubert syndrome 20	10.0	TMEM107 NPHP4
11	polycystic kidney disease 1 with or without polycystic liver disease	10.0	NPHP3 NEK9 NEK8 INVS
12	leber congenital amaurosis 6	10.0	MKS1 CEP290
13	leber congenital amaurosis 10	9.9	IQCB1 CEP290
14	bardet-biedl syndrome 13	9.9	MKS1 CEP290
15	nephronophthisis 1	9.9	NPHP4 NPHP3 NPHP1 INVS
16	orofaciodigital syndrome i	9.9	CEP83 CEP290
17	joubert syndrome 15	9.9	RPGRIP1L NPHP4 NPHP1
18	cone-rod dystrophy 13	9.9	RPGRIP1L NPHP4 IQCB1
19	end stage renal disease	9.8	NPHP4 NPHP3 NEK8 INVS
20	leber congenital amaurosis 3	9.8	NPHP4 CEP290
21	cogan syndrome	9.8	NPHP4 NPHP1 CEP290
22	bardet-biedl syndrome 11	9.8	SDCCAG8 MKS1 CEP290
23	bardet-biedl syndrome 8	9.8	MKS1 CEP290
24	polycystic liver disease 1 with or without kidney cysts	9.7	NPHP4 NPHP1
25	joubert syndrome 24	9.7	RPGRIP1L NPHP1 CEP290
26	bardet-biedl syndrome 3	9.7	MKS1 CEP290
27	congenital hepatic fibrosis	9.6	TMEM67 RPGRIP1L ANKS6
28	johanson-blizzard syndrome	9.6	RPGRIP1L CEP290
29	asphyxiating thoracic dystrophy	9.6	RPGRIP1L NPHP4 CEP290
30	meckel syndrome, type 8	9.6	TMEM67 RPGRIP1L NPHP3
31	joubert syndrome 10	9.6	TMEM67 RPGRIP1L NPHP1
32	juvenile nephronophthisis	9.5	NPHP4 NPHP3 NPHP1 IQCB1 INVS ANKS6
33	oligohydramnios	9.5	TMEM67 NEK8 MKS1 INVS
34	infantile nephronophthisis	9.5	NPHP4 NPHP3 NEK8 INVS CEP83 ANKS6
35	polycystic kidney disease	9.5	TMEM67 NPHP3 NEK8 INVS ANKS6
36	encephalocele	9.4	TMEM67 MKS1 CEP290
37	retinal aplasia	9.4	SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
38	physical disorder	9.4	TMEM67 MKS1 CEP290
39	pathologic nystagmus	9.4	TMEM67 MKS1 CEP290
40	alstrom syndrome	9.4	RPGRIP1L NPHP3 NPHP1 NEK9 CEP290
41	eye disease	9.3	SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
42	ciliopathy	9.3	TMEM67 SDCCAG8 RPGRIP1L NPHP4
43	nephronophthisis 18	9.2	SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 INVS
44	bardet-biedl syndrome 6	9.2	SDCCAG8 RPGRIP1L MKS1 INVS CEP290
45	joubert syndrome 13	9.1	TMEM67 RPGRIP1L NPHP1 CEP290
46	short-rib thoracic dysplasia 1 with or without polydactyly	9.1	TMEM67 RPGRIP1L NPHP1 CEP290
47	apraxia	9.1	TMEM67 RPGRIP1L NPHP1 CEP290
48	kidney disease	9.1	TMEM67 NPHP4 NPHP1 NEK8 CEP290
49	nephronophthisis 15	9.1	SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 NEK8
50	polycystic kidney disease 2 with or without polycystic liver disease	9.0	TMEM67 NPHP4 NEK9 NEK8 MKS1 INVS

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

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Symptoms & Phenotypes for Nephronophthisis 16

Human phenotypes related to Nephronophthisis 16:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	hypertrophic cardiomyopathy ³¹	occasional (7.5%)	HP:0001639
2	patent ductus arteriosus ³¹	occasional (7.5%)	HP:0001643
3	pulmonic stenosis ³¹	occasional (7.5%)	HP:0001642
4	situs inversus totalis ³¹	occasional (7.5%)	HP:0001696
5	aortic valve stenosis ³¹	occasional (7.5%)	HP:0001650
6	renal insufficiency ³¹		HP:0000083
7	hepatic fibrosis ³¹		HP:0001395
8	polycystic kidney dysplasia ³¹		HP:0000113
9	enlarged kidney ³¹		HP:0000105
10	cholestasis ³¹		HP:0001396
11	nephronophthisis ³¹		HP:0000090

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

MGI Mouse Phenotypes related to Nephronophthisis 16:

⁴⁵ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.25	ANKS6 CEP290 CEP83 INVS MKS1 NEK8
2	cellular	MP:0005384	10.19	CEP290 INVS MKS1 NPHP1 NPHP3 NPHP4
3	growth/size/body region	MP:0005378	10.18	ANKS6 CEP290 CEP83 INVS IQCB1 MKS1
4	mortality/aging	MP:0010768	10.17	ANKS3 ANKS6 CEP290 CEP83 INVS IQCB1
5	embryo	MP:0005380	10.09	ANKS6 CEP83 INVS MKS1 NEK9 NPHP3
6	craniofacial	MP:0005382	10.02	CEP290 MKS1 NPHP3 RPGRIP1L SDCCAG8 TMEM107
7	digestive/alimentary	MP:0005381	10	INVS MKS1 NEK8 RPGRIP1L SDCCAG8 TMEM107
8	liver/biliary system	MP:0005370	9.91	ANKS6 CEP290 INVS MKS1 RPGRIP1L TMEM107
9	nervous system	MP:0003631	9.91	CEP290 MKS1 NPHP1 NPHP3 NPHP4 RPGRIP1L
10	renal/urinary system	MP:0005367	9.9	CEP290 INVS MKS1 NEK8 NPHP1 NPHP3
11	respiratory system	MP:0005388	9.43	ANKS6 CEP290 INVS MKS1 NEK8 RPGRIP1L
12	vision/eye	MP:0005391	9.17	CEP290 MKS1 NPHP1 NPHP4 RPGRIP1L SDCCAG8

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Drugs & Therapeutics for Nephronophthisis 16

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 16

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Genetic Tests for Nephronophthisis 16

Genetic tests related to Nephronophthisis 16:

#	Genetic test	Affiliating Genes
1	Nephronophthisis 16 ²⁹	ANKS6

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Anatomical Context for Nephronophthisis 16

MalaCards organs/tissues related to Nephronophthisis 16:

⁴⁰

Kidney, Liver

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Publications for Nephronophthisis 16

Articles related to Nephronophthisis 16:

#	Title	Authors	PMID	Year
1	ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. ⁶ ⁵⁶	Hoff S...Lienkamp SS	23793029	2013
2	Nephronophthisis ⁶	Stokman M...Knoers N	27336129	2016
3	Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. ⁶¹	Fang B...Jia X	31678577	2020
4	Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate. ⁶¹	Schlimpert M...Kammerer B	29899363	2018
5	Anks3 interacts with nephronophthisis proteins and is required for normal renal development. ⁶¹	Yakulov TA...Walz G	25671767	2015

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Genes for Nephronophthisis 16

Genes related to Nephronophthisis 16 (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	1326.77	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23793029 27336129
2	NEK8	NIMA Related Kinase 8	Protein Coding	6.9	DISEASES inferred ¹⁵
3	NPHP3	Nephrocystin 3	Protein Coding	6.85	DISEASES inferred ¹⁵
4	NEK9	NIMA Related Kinase 9	Protein Coding	6.81	DISEASES inferred ¹⁵
5	NPHP1	Nephrocystin 1	Protein Coding	6.64	DISEASES inferred ¹⁵
6	IQCB1	IQ Motif Containing B1	Protein Coding	6.53	DISEASES inferred ¹⁵
7	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	6.5	DISEASES inferred ¹⁵
8	INVS	Inversin	Protein Coding	6.47	DISEASES inferred ¹⁵
9	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.38	DISEASES inferred ¹⁵
10	CEP83	Centrosomal Protein 83	Protein Coding	6.38	DISEASES inferred ¹⁵
11	NPHP4	Nephrocystin 4	Protein Coding	6.37	DISEASES inferred ¹⁵
12	ANKS3	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3	Protein Coding	6.25	DISEASES inferred ¹⁵
13	RPGRIP1L	RPGRIP1 Like	Protein Coding	6.19	DISEASES inferred ¹⁵
14	CEP290	Centrosomal Protein 290	Protein Coding	6.14	DISEASES inferred ¹⁵
15	TMEM67	Transmembrane Protein 67	Protein Coding	6.14	DISEASES inferred ¹⁵
16	TMEM107	Transmembrane Protein 107	Protein Coding	6.13	DISEASES inferred ¹⁵

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Variations for Nephronophthisis 16

ClinVar genetic disease variations for Nephronophthisis 16:

⁶ (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ANKS6	NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)	SNV	Pathogenic	579608	rs369437168	9:101540694-101540694	9:98778412-98778412
2	ANKS6	NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)	SNV	Pathogenic	571622	rs756090222	9:101552521-101552521	9:98790239-98790239
3	ANKS6	NM_173551.5(ANKS6):c.694_718dup (p.Val240fs)	duplication	Pathogenic	574976	rs1564228101	9:101552529-101552530	9:98790247-98790248
4	ANKS6	NM_173551.5(ANKS6):c.539_540del (p.Leu180fs)	deletion	Pathogenic	661012		9:101552708-101552709	9:98790426-98790427
5	ANKS6	NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)	deletion	Pathogenic	64358	rs587777025	9:101513333-101513335	9:98751051-98751053
6	ANKS6	NM_173551.5(ANKS6):c.2054_2064del (p.His685fs)	deletion	Pathogenic	64357	rs587777024	9:101530441-101530451	9:98768159-98768169
7	ANKS6	NM_173551.5(ANKS6):c.2512-2A>C	SNV	Pathogenic	64359	rs397514258	9:101498907-101498907	9:98736625-98736625
8	ANKS6	NM_173551.5(ANKS6):c.1973-3C>G	SNV	Likely pathogenic	64356	rs397514257	9:101530535-101530535	9:98768253-98768253
9	ANKS6	NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn)	SNV	Conflicting interpretations of pathogenicity	262859	rs79073889	9:101546410-101546410	9:98784128-98784128
10	ANKS6	NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser)	SNV	Conflicting interpretations of pathogenicity	390055	rs199851177	9:101498824-101498824	9:98736542-98736542
11	ANKS6	NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu)	SNV	Uncertain significance	541402	rs370230003	9:101518764-101518764	9:98756482-98756482
12	ANKS6	NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln)	SNV	Uncertain significance	857938		9:101536259-101536259	9:98773977-98773977
13	ANKS6	NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met)	SNV	Uncertain significance	843092		9:101540654-101540654	9:98778372-98778372
14	ANKS6	NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser)	SNV	Uncertain significance	857507		9:101540684-101540684	9:98778402-98778402
15	ANKS6	NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp)	SNV	Uncertain significance	853983		9:101552791-101552791	9:98790509-98790509
16	ANKS6	NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp)	SNV	Uncertain significance	658948		9:101552824-101552824	9:98790542-98790542
17	ANKS6	NM_173551.5(ANKS6):c.1220-6C>T	SNV	Uncertain significance	641802		9:101542625-101542625	9:98780343-98780343
18	ANKS6	NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu)	SNV	Uncertain significance	474446	rs200373053	9:101533237-101533237	9:98770955-98770955
19	ANKS6	NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser)	SNV	Uncertain significance	474452	rs374511363	9:101552835-101552835	9:98790553-98790553
20	ANKS6	NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr)	SNV	Uncertain significance	640676		9:101507849-101507849	9:98745567-98745567
21	ANKS6	NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu)	SNV	Uncertain significance	638870		9:101518761-101518761	9:98756479-98756479
22	ANKS6	NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly)	SNV	Uncertain significance	641730		9:101552584-101552584	9:98790302-98790302
23	ANKS6	NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro)	SNV	Uncertain significance	579133	rs201419783	9:101518831-101518831	9:98756549-98756549
24	ANKS6	NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg)	SNV	Uncertain significance	566672	rs200902480	9:101552442-101552442	9:98790160-98790160
25	ANKS6	NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser)	SNV	Uncertain significance	566534	rs146038901	9:101530392-101530392	9:98768110-98768110
26	ANKS6	NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg)	SNV	Uncertain significance	582762	rs202244716	9:101518795-101518795	9:98756513-98756513
27	ANKS6	NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu)	SNV	Uncertain significance	567567	rs760387934	9:101530400-101530400	9:98768118-98768118
28	ANKS6	NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser)	SNV	Uncertain significance	474442	rs201297615	9:101544853-101544853	9:98782571-98782571
29	ANKS6	NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly)	SNV	Uncertain significance	474449	rs372265310	9:101513378-101513378	9:98751096-98751096
30	ANKS6	NM_173551.5(ANKS6):c.847G>A (p.Val283Ile)	SNV	Uncertain significance	474455	rs748439897	9:101552401-101552401	9:98790119-98790119
31	ANKS6	NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)	SNV	Uncertain significance	474453	rs181546859	9:101552716-101552716	9:98790434-98790434
32	ANKS6	NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala)	SNV	Uncertain significance	474450	rs1554752436	9:101558536-101558536	9:98796254-98796254
33	ANKS6	NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg)	SNV	Uncertain significance	541403	rs1554742278	9:101530453-101530453	9:98768171-98768171
34	ANKS6	NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met)	SNV	Uncertain significance	541400	rs376870807	9:101546340-101546340	9:98784058-98784058
35	ANKS6	NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys)	SNV	Uncertain significance	541401	rs776931798	9:101544792-101544792	9:98782510-98782510
36	ANKS6	NM_173551.5(ANKS6):c.1902G>A (p.Ser634=)	SNV	Likely benign	474445	rs765475331	9:101533248-101533248	9:98770966-98770966
37	ANKS6	NM_173551.5(ANKS6):c.1731G>A (p.Thr577=)	SNV	Likely benign	474443	rs201821907	9:101536249-101536249	9:98773967-98773967
38	ANKS6	NM_173551.5(ANKS6):c.193G>T (p.Val65Phe)	SNV	Likely benign	474447	rs745881769	9:101558581-101558581	9:98796299-98796299
39	ANKS6	NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser)	SNV	Likely benign	474451	rs200644058	9:101498853-101498853	9:98736571-98736571
40	ANKS6	NM_173551.5(ANKS6):c.2310C>T (p.Gly770=)	SNV	Likely benign	474448	rs181456709	9:101518718-101518718	9:98756436-98756436
41	ANKS6	NM_173551.5(ANKS6):c.1641C>A (p.Thr547=)	SNV	Likely benign	775032		9:101536339-101536339	9:98774057-98774057
42	ANKS6	NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser)	SNV	Likely benign	707351		9:101540550-101540550	9:98778268-98778268
43	ANKS6	NM_173551.5(ANKS6):c.1772C>G (p.Pro591Arg)	SNV	Likely benign	767247		9:101536208-101536208	9:98773926-98773926
44	ANKS6	NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr)	SNV	Likely benign	767308		9:101536290-101536290	9:98774008-98774008
45	ANKS6	NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln)	SNV	Likely benign	778950		9:101552476-101552476	9:98790194-98790194
46	ANKS6	NM_173551.5(ANKS6):c.538C>T (p.Leu180=)	SNV	Likely benign	771090		9:101552710-101552710	9:98790428-98790428
47	ANKS6	NM_173551.5(ANKS6):c.2094G>A (p.Pro698=)	SNV	Likely benign	720041		9:101530411-101530411	9:98768129-98768129
48	ANKS6	NM_173551.5(ANKS6):c.1611A>C (p.Thr537=)	SNV	Likely benign	719108		9:101539693-101539693	9:98777411-98777411
49	ANKS6	NM_173551.5(ANKS6):c.583C>T (p.Leu195=)	SNV	Likely benign	726262		9:101552665-101552665	9:98790383-98790383
50	ANKS6	NM_173551.5(ANKS6):c.2265G>C (p.Ser755=)	SNV	Likely benign	743806		9:101518763-101518763	9:98756481-98756481

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

⁷³

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

Sources

Expression for Nephronophthisis 16

Search GEO for disease gene expression data for Nephronophthisis 16.

Sources

Pathways for Nephronophthisis 16

Pathways related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.6	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 MKS1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.05	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1

Sources

GO Terms for Nephronophthisis 16

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.34	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 NEK9
2	cytosol	GO:0005829	10.26	SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1 NEK9
3	cytoskeleton	GO:0005856	10.06	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 NEK8
4	microtubule organizing center	GO:0005815	9.98	SDCCAG8 RPGRIP1L NPHP4 NEK8 MKS1 IQCB1
5	centrosome	GO:0005813	9.91	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8
6	centriole	GO:0005814	9.88	SDCCAG8 MKS1 IQCB1 CEP83 CEP290
7	ciliary basal body	GO:0036064	9.85	SDCCAG8 RPGRIP1L NPHP4 MKS1 CEP290
8	cell-cell junction	GO:0005911	9.83	SDCCAG8 RPGRIP1L NPHP4 NPHP1
9	photoreceptor connecting cilium	GO:0032391	9.77	RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
10	cell projection	GO:0042995	9.77	TMEM67 TMEM107 SDCCAG8 RPGRIP1L NPHP4 NPHP3
11	bicellular tight junction	GO:0005923	9.71	RPGRIP1L NPHP4 NPHP1
12	MKS complex	GO:0036038	9.71	TMEM67 TMEM107 MKS1 CEP290
13	ciliary transition zone	GO:0035869	9.63	TMEM67 TMEM107 RPGRIP1L NPHP4 MKS1 CEP290
14	ciliary base	GO:0097546	9.55	NPHP4 NEK8
15	ciliary inversin compartment	GO:0097543	9.51	NEK8 INVS
16	cilium	GO:0005929	9.4	TMEM67 TMEM107 RPGRIP1L NPHP4 NPHP3 NPHP1

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium assembly	GO:0060271	9.76	TMEM67 TMEM107 RPGRIP1L NPHP3 MKS1 IQCB1
2	negative regulation of canonical Wnt signaling pathway	GO:0090090	9.72	NPHP4 NPHP3 INVS
3	non-motile cilium assembly	GO:1905515	9.61	TMEM107 RPGRIP1L MKS1
4	determination of left/right symmetry	GO:0007368	9.56	RPGRIP1L NPHP3 NEK8 MKS1
5	cell projection organization	GO:0030030	9.56	TMEM67 TMEM107 SDCCAG8 NPHP1 MKS1 IQCB1
6	regulation of smoothened signaling pathway	GO:0008589	9.54	RPGRIP1L MKS1
7	head development	GO:0060322	9.52	RPGRIP1L MKS1
8	neural tube patterning	GO:0021532	9.51	TMEM107 RPGRIP1L
9	photoreceptor cell maintenance	GO:0045494	9.5	NPHP4 NPHP3 IQCB1
10	protein localization to ciliary transition zone	GO:1904491	9.49	TMEM107 NPHP4
11	positive regulation of bicellular tight junction assembly	GO:1903348	9.48	NPHP4 NPHP1
12	maintenance of animal organ identity	GO:0048496	9.46	NPHP3 IQCB1
13	regulation of Wnt signaling pathway, planar cell polarity pathway	GO:2000095	9.4	NPHP3 MKS1
14	visual behavior	GO:0007632	9.37	NPHP4 NPHP1
15	ciliary basal body-plasma membrane docking	GO:0097711	9.28	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 MKS1

Molecular functions related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.53	TMEM67 TMEM107 SDCCAG8 RPGRIP1L NPHP4 NPHP3

Sources

Sources for Nephronophthisis 16

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Nephronophthisis 16 (NPHP16)

Aliases & Classifications for Nephronophthisis 16

MalaCards integrated aliases for Nephronophthisis 16:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nephronophthisis 16

Related Diseases for Nephronophthisis 16

Diseases in the Nephronophthisis family:

Diseases related to Nephronophthisis 16 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Nephronophthisis 16

Human phenotypes related to Nephronophthisis 16:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Nephronophthisis 16:

Drugs & Therapeutics for Nephronophthisis 16

Genetic Tests for Nephronophthisis 16

Genetic tests related to Nephronophthisis 16:

Anatomical Context for Nephronophthisis 16

MalaCards organs/tissues related to Nephronophthisis 16:

Publications for Nephronophthisis 16

Articles related to Nephronophthisis 16:

Genes for Nephronophthisis 16

Genes related to Nephronophthisis 16 (1 elite genes):

Variations for Nephronophthisis 16

ClinVar genetic disease variations for Nephronophthisis 16:

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

Expression for Nephronophthisis 16

Pathways for Nephronophthisis 16

Pathways related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

GO Terms for Nephronophthisis 16

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

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

Molecular functions related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

Sources for Nephronophthisis 16