Juvenile Nephronophthisis

MalaCards integrated aliases for Juvenile Nephronophthisis:

Nephronophthisis, Familial Juvenile 71

Nephronophthisis 71

Characteristics:

Classifications:

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 Juvenile Nephronophthisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)

#	Related Disease	Score	Top Affiliating Genes
1	nephronophthisis 1	33.2	NPHP4 NPHP3 NPHP1 INVS
2	nephronophthisis 4	32.9	NPHP4 NPHP1
3	senior-loken syndrome 1	30.9	WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
4	end stage renal disease	30.7	NPHP4 NPHP3 INVS
5	joubert syndrome 4	30.4	NPHP4 NPHP1
6	cogan syndrome	30.3	NPHP4 NPHP1
7	coloboma of macula	29.9	NPHP4 NPHP3 NPHP1 IQCB1
8	ciliopathy	29.8	WDR19 NPHP4
9	coach syndrome	29.7	NPHP4 NPHP3 NPHP1 IQCB1
10	interstitial nephritis	29.6	MAPKBP1 INVS ANKS6
11	retinitis pigmentosa	29.1	WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
12	cystic kidney disease	29.0	NPHP4 NPHP3 NPHP1 INVS GLIS2 ANKS6
13	joubert syndrome 1	28.5	WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
14	nephronophthisis 2	28.3	NPHP4 NPHP3 NPHP1 IQCB1 INVS GLIS2
15	nephronophthisis	28.3	WDR19 NPHP4 NPHP3 NPHP1 MAPKBP1 MALL
16	fundus dystrophy	28.2	WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
17	medullary cystic kidney disease 1	11.6
18	nephronophthisis 3	11.6
19	alsing syndrome	11.3
20	arima syndrome	11.3
21	kidney disease	10.4
22	neuroretinitis	10.4
23	retinitis	10.4
24	retinal degeneration	10.4
25	apraxia	10.3
26	ocular motor apraxia	10.3
27	joubert syndrome 15	10.2	NPHP4 NPHP1
28	joubert syndrome 8	10.2	NPHP3 NPHP1
29	meckel syndrome, type 4	10.2	NPHP3 NPHP1
30	fibrosis of extraocular muscles, congenital, 1	10.2
31	ataxia and polyneuropathy, adult-onset	10.2
32	pathologic nystagmus	10.2
33	cone-rod dystrophy 13	10.2	NPHP4 IQCB1
34	meckel syndrome, type 2	10.2	NPHP4 NPHP1
35	meckel syndrome, type 5	10.1	NPHP4 NPHP1
36	short-rib thoracic dysplasia 9 with or without polydactyly	10.1
37	yemenite deaf-blind hypopigmentation syndrome	10.1
38	renal fibrosis	10.1
39	congenital hepatic fibrosis	10.1
40	inherited retinal disorder	10.1
41	hyperuricemic nephropathy, familial juvenile, 1	10.1	NPHP4 NPHP1
42	retinal aplasia	10.1	NPHP4 NPHP1 IQCB1
43	meckel syndrome, type 6	10.0	NPHP4 NPHP3 NPHP1
44	alstrom syndrome	10.0	NPHP3 NPHP1
45	peripheral dysostosis	10.0
46	renal tubular dysgenesis	10.0
47	rhyns syndrome	10.0
48	hyperphosphatemia	10.0
49	multinodular goiter	10.0
50	autosomal recessive disease	10.0

Drugs for Juvenile Nephronophthisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Liver Extracts

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis	Completed	NCT01022957
2	Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes	Completed	NCT00873678
3	Clinical and Molecular Investigations Into Ciliopathies	Completed	NCT00068224
4	An Observational, Clinical Study to Collect the Medical Data in Order to Determine the Craniofacial Characteristics Through Phenotypic Analysis on Children With Sensenbrenner Treated/Followed at the Hôpital Femme Mère Enfant From 2005	Not yet recruiting	NCT04184531

Articles related to Juvenile Nephronophthisis:

(show top 50) (show all 199)

#	Title	Authors	PMID	Year
1	Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion. 61	Arai Y...Hayashi Y	32361464	2020
2	Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. 61	Abdelwahed M...Belguith N	31402777	2019
3	Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1. 61	Chen H...Sun L	31523374	2019
4	Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. 61	Nuovo S...Emma F	30403813	2018
5	Renal Replacement Therapy in Children in Lithuania: Challenges, Trends, and Outcomes. 61	Virsilas E...Jankauskiene A	30400223	2018
6	[Identification of a new mutation of the NPHP1 gene]. 61	La Russa A...Bonofiglio R	29786190	2018
7	Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. 61	Konig J...Gesellschaft fur Padiatrische Nephrologie (GPN)	29146700	2017
8	Juvenile nephronophthisis and dysthyroidism: a rare association. 61	Amiri FS...Kariminejad A	28509138	2017
9	Successful resumption of peritoneal dialysis following living donor liver transplantation in children with end-stage renal disease. 61	Kanazawa H...Kasahara M	28213931	2017
10	Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus. 61	Scherdel P...Chalumeau M	28448550	2017
11	Senior Loken Syndrome. 61	Kaur A...Goyal RK	28050464	2016
12	[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]. 61	Sun LZ...Chen HM	27806791	2016
13	Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 61	Kang HG...Cheong HI	27491411	2016
14	Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. 61	Chan SC...MacDonald IM	27316287	2016
15	Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. 61	Qiu L...Zhou J	27004562	2016
16	Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility. 61	Devi AN...Kumar PG	26198798	2015
17	Senior- loken syndrome - a ciliopathy. 61	R H	25584255	2014
18	A family with five siblings affected with nephronophthisis. 61	Albaramki J...Wahbeh A	24821164	2014
19	Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome. 61	Tong H...Wang H	24674142	2013
20	Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. 61	Deacon BS...Schaefer GB	23683649	2013
21	Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. 61	Onoe T...Kawano M	23569556	2013
22	The Senior-Loken syndrome: Two cases from the State of Qatar. 61	Othman M...Bakr A	23205360	2012
23	Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. 61	Sugimoto K...Takemura T	21265929	2011
24	Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience. 61	Tayfur AC...Bakkaloglu A	21486612	2011
25	A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. 61	Bellavia S...Pirson Y	20798123	2010
26	End-stage juvenile nephronophthisis on MRI. 61	Stafrace S...Khan J	20182708	2010
27	Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? 61	Simms RJ...Sayer JA	20490483	2010
28	Senior-Loken syndrome in an Iranian family. 61	Roozbeh J...Sharifian M	20587883	2010
29	Clinical and molecular features of Joubert syndrome and related disorders. 61	Parisi MA	19876931	2009
30	Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. 61	Jiang ST...Li H	19208653	2009
31	Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. 61	Jiang ST...Li H	18684731	2008
32	Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. 61	Hoyer J...Rauch A	17601928	2007
33	Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy. 61	Sato T...Ikeda T	25390787	2007
34	The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 61	Baala L...Attie-Bitach T	17160906	2007
35	[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]. 61	Sellami D...Feki J	17114995	2006
36	Twins with senior-Loken syndrome. 61	Giridhar S...Senguttuvan P	17127790	2006
37	Persistent post-transplant polyuria managed by bilateral native-kidney laparoscopic nephrectomy. 61	Kravarusic D...Grisaru S	16703380	2006
38	Renal cystic diseases: a review. 61	Bisceglia M...Sessa A	16462154	2006
39	Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. 61	le Maire A...Dardel F	15723349	2005
40	Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 61	Valente EM...Gleeson JG	15786477	2005
41	Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. 61	Mollet G...Saunier S	15661758	2005
42	The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 61	Parisi MA...Glass IA	15138899	2004
43	[Two cases of Senior-Loken syndrome]. 61	Oyama T...Abe H	14969091	2004
44	Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. 61	Stavrou C...Pierides A	13679497	2003
45	Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis. 61	Winn MP	12953036	2003
46	Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. 61	Johnson CA...Sergi C	12746391	2003
47	Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I. 61	Takano K...Saitoh S	12699867	2003
48	Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. 61	Stavrou C...Deltas CC	12234310	2002
49	The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 61	Mollet G...Saunier S	12244321	2002
50	Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. 61	Donaldson JC...Hanks SK	12006559	2002

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NPHP1	Nephrocystin 1	Protein Coding	776.73	Pathogenic 6 Causative germline mutation 58 GeneCards inferred via : Publications Gene name Summaries (show sections)
2	NPHP4	Nephrocystin 4	Protein Coding	356.41	Causative germline mutation 58 GeneCards inferred via : Publications (show sections)
3	ADAMTS9	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9	Protein Coding	350	Causative germline mutation 58
4	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	350	Causative germline mutation 58
5	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	350	Causative germline mutation (loss of function) 58
6	MAPKBP1	Mitogen-Activated Protein Kinase Binding Protein 1	Protein Coding	350	Causative germline mutation (loss of function) 58
7	WDR19	WD Repeat Domain 19	Protein Coding	350	Causative germline mutation 58
8	NPHP3	Nephrocystin 3	Protein Coding	7.52	GeneCards inferred via : Disorders (show sections)
9	IQCB1	IQ Motif Containing B1	Protein Coding	6.76	GeneCards inferred via : Publications (show sections)
10	INVS	Inversin	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
11	MALL	Mal, T Cell Differentiation Protein Like	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)

ClinVar genetic disease variations for Juvenile Nephronophthisis:

⁶ (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NPHP1	NM_000272.4(NPHP1):c.1520+1del	deletion	Pathogenic	462705	rs747861275	2:110904329-110904329	2:110146752-110146752
2	NPHP1	NM_000272.4(NPHP1):c.1529_1530del (p.Glu510fs)	deletion	Pathogenic	436026	rs1553484094	2:110902137-110902138	2:110144560-110144561
3	NPHP1		deletion	Pathogenic	453297		2:110852960-110975102	2:110095383-110217525
4	MALL , NPHP1	GRCh37/hg19 2q13(chr2:110862477-110983703)	copy number loss	Pathogenic	625824		2:110862477-110983703
5	NPHP1	NM_000272.4(NPHP1):c.1884+1G>T	SNV	Pathogenic	3507	rs1233478832	2:110886762-110886762	2:110129185-110129185
6	NPHP1	NM_000272.4(NPHP1):c.80T>A (p.Leu27Ter)	SNV	Pathogenic	3509	rs121907898	2:110959061-110959061	2:110201484-110201484
7	NPHP1	NM_000272.4(NPHP1):c.1027G>A (p.Gly343Arg)	SNV	Pathogenic	3510	rs121907899	2:110920625-110920625	2:110163048-110163048
8	NPHP1	NPHP1, DEL	deletion	Pathogenic	3511
9	NPHP1	NM_000272.4(NPHP1):c.555dup (p.Pro186fs)	duplication	Pathogenic	283524	rs766524637	2:110926097-110926098	2:110168520-110168521
10	NPHP1	NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile)	SNV	Conflicting interpretations of pathogenicity	287345	rs140469160	2:110919181-110919181	2:110161604-110161604
11	NPHP1	NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)	SNV	Conflicting interpretations of pathogenicity	288369	rs114250691	2:110920681-110920681	2:110163104-110163104
12	NPHP1	NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys)	SNV	Conflicting interpretations of pathogenicity	330730	rs149887461	2:110901179-110901179	2:110143602-110143602
13	NPHP1	NM_000272.4(NPHP1):c.456A>G (p.Ser152=)	SNV	Conflicting interpretations of pathogenicity	330738	rs143163969	2:110927449-110927449	2:110169872-110169872
14	NPHP1	NM_000272.4(NPHP1):c.969G>A (p.Thr323=)	SNV	Conflicting interpretations of pathogenicity	330734	rs141763330	2:110920683-110920683	2:110163106-110163106
15	NPHP1	NM_000272.3(NPHP1):c.625-3dup	duplication	Conflicting interpretations of pathogenicity	156395	rs200118387	2:110922740-110922740	2:110165157-110165158
16	NPHP1	NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)	SNV	Conflicting interpretations of pathogenicity	167377	rs140446520	2:110936097-110936097	2:110178520-110178520
17	NPHP1	NM_000272.4(NPHP1):c.1035A>G (p.Gln345=)	SNV	Conflicting interpretations of pathogenicity	193569	rs371112962	2:110919267-110919267	2:110161690-110161690
18	NPHP1	NM_000272.4(NPHP1):c.1438-4C>T	SNV	Conflicting interpretations of pathogenicity	194327	rs151204566	2:110904416-110904416	2:110146839-110146839
19	NPHP1	NM_001128178.3(NPHP1):c.*194T>C	SNV	Conflicting interpretations of pathogenicity	894599		2:110881174-110881174	2:110123597-110123597
20	NPHP1	NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)	SNV	Uncertain significance	892573		2:110881598-110881598	2:110124021-110124021
21	NPHP1	NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)	SNV	Uncertain significance	894221		2:110886786-110886786	2:110129209-110129209
22	NPHP1	NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)	SNV	Uncertain significance	894222		2:110889364-110889364	2:110131787-110131787
23	NPHP1	NM_001128178.3(NPHP1):c.771+148G>T	SNV	Uncertain significance	894647		2:110922117-110922117	2:110164540-110164540
24	NPHP1	NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)	SNV	Uncertain significance	894667		2:110927553-110927553	2:110169976-110169976
25	NPHP1	NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)	SNV	Uncertain significance	894668		2:110936089-110936089	2:110178512-110178512
26	NPHP1	NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)	SNV	Uncertain significance	892675		2:110959004-110959004	2:110201427-110201427
27	NPHP1	NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)	SNV	Uncertain significance	893477		2:110962516-110962516	2:110204939-110204939
28	NPHP1	NM_001128178.3(NPHP1):c.*238T>C	SNV	Uncertain significance	894188		2:110881130-110881130	2:110123553-110123553
29	NPHP1	NM_001128178.3(NPHP1):c.*199A>G	SNV	Uncertain significance	894189		2:110881169-110881169	2:110123592-110123592
30	NPHP1	NM_000272.4(NPHP1):c.940-5T>C	SNV	Uncertain significance	498608	rs201478764	2:110920717-110920717	2:110163140-110163140
31	NPHP1	NM_000272.4(NPHP1):c.1929+5A>C	SNV	Uncertain significance	566103	rs201030203	2:110883209-110883209	2:110125632-110125632
32	NPHP1	NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser)	SNV	Uncertain significance	594808	rs769509705	2:110927445-110927445	2:110169868-110169868
33	NPHP1	NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln)	SNV	Uncertain significance	216416	rs780427871	2:110881541-110881541	2:110123964-110123964
34	NPHP1	NC_000002.12:g.110205022G>A	SNV	Uncertain significance	893777		2:110962599-110962599	2:110205022-110205022
35	NPHP1	NC_000002.12:g.110123331A>T	SNV	Uncertain significance	893357		2:110880908-110880908
36	NPHP1	NM_001128178.3(NPHP1):c.1717-5T>G	SNV	Uncertain significance	893387		2:110883263-110883263	2:110125686-110125686
37	NPHP1	NM_001128178.3(NPHP1):c.1716+15T>C	SNV	Uncertain significance	893388		2:110886748-110886748	2:110129171-110129171
38	NPHP1	NM_001128178.3(NPHP1):c.771+178C>T	SNV	Uncertain significance	894253		2:110922087-110922087	2:110164510-110164510
39	NPHP1	NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser)	SNV	Uncertain significance	330737	rs886054756	2:110926060-110926060	2:110168483-110168483
40	NPHP1	NM_000272.4(NPHP1):c.*250C>T	SNV	Uncertain significance	330726	rs150558683	2:110881118-110881118	2:110123541-110123541
41	NPHP1	NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg)	SNV	Uncertain significance	330733	rs886054754	2:110920664-110920664	2:110163087-110163087
42	NPHP1	NM_000272.4(NPHP1):c.669C>T (p.Gly223=)	SNV	Uncertain significance	330736	rs886054755	2:110922688-110922688	2:110165111-110165111
43	NPHP1	NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)	SNV	Uncertain significance	330732	rs375907280	2:110905597-110905597	2:110148020-110148020
44	NPHP1	NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln)	SNV	Uncertain significance	330731	rs886054753	2:110904403-110904403	2:110146826-110146826
45	NPHP1	NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser)	SNV	Uncertain significance	330735	rs139787582	2:110922176-110922176	2:110164599-110164599
46	NPHP1	NM_000272.4(NPHP1):c.*322A>G	SNV	Uncertain significance	330725	rs886054752	2:110881046-110881046	2:110123469-110123469
47	NPHP1	NM_000272.4(NPHP1):c.2100C>T (p.Gly700=)	SNV	Uncertain significance	330727	rs200631256	2:110881470-110881470	2:110123893-110123893
48	NPHP1	NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu)	SNV	Uncertain significance	330728	rs138181219	2:110883254-110883254	2:110125677-110125677
49	NPHP1	NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu)	SNV	Uncertain significance	330729	rs573192954	2:110901126-110901126	2:110143549-110143549
50	NPHP1	NM_001128178.3(NPHP1):c.-17G>A	SNV	Likely benign	893478		2:110962562-110962562	2:110204985-110204985

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

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance 65 Show member pathways Cilium Assembly 65	11.75	WDR19 NPHP4 NPHP3 NPHP1 IQCB1