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

MCID: JVN041 MIFTS: 43	Juvenile Nephronophthisis 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 Juvenile Nephronophthisis

MalaCards integrated aliases for Juvenile Nephronophthisis:

Name: Juvenile Nephronophthisis ⁵⁸ ⁶

Nephronophthisis, Familial Juvenile ⁷¹

Nephronophthisis ⁷¹

Characteristics:

Orphanet epidemiological data:

⁵⁸

juvenile nephronophthisis
Inheritance: Autosomal recessive;

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

Cystic kidney disease

Medullary cystic kidney

Orphanet: ⁵⁸

Rare renal diseases

External Ids:

ICD10 via Orphanet ³³ Q61.5

UMLS via Orphanet ⁷² C1855681

Orphanet ⁵⁸ ORPHA93592

UMLS ⁷¹ C0687120 C1855681

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Summaries for Juvenile Nephronophthisis

MalaCards based summary : Juvenile Nephronophthisis, also known as nephronophthisis, familial juvenile, is related to nephronophthisis 1 and nephronophthisis 4, and has symptoms including polydipsia and polyuria. An important gene associated with Juvenile Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include kidney, eye and retina, and related phenotypes are cellular and craniofacial

Wikipedia : ⁷⁴ Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage kidney disease... more...

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Related Diseases for Juvenile Nephronophthisis

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 131)

#	Related Disease	Score	Top Affiliating Genes
1	nephronophthisis 1	32.5	NPHP4 NPHP3 NPHP1 MALL INVS
2	nephronophthisis 4	32.1	NPHP4 NPHP1
3	nephronophthisis 3	31.8	NPHP3-AS1 NPHP3-ACAD11 NPHP3 NPHP1
4	apraxia	30.6	TMEM67 NPHP1 CEP290
5	senior-loken syndrome 1	30.5	WDR19 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3
6	kidney disease	30.4	TMEM67 NPHP4 NPHP3 NPHP1 CEP290
7	interstitial nephritis	30.3	MAPKBP1 INVS ANKS6
8	congenital hepatic fibrosis	30.3	TMEM67 ANKS6
9	cogan syndrome	30.3	NPHP4 NPHP1 CEP290
10	retinal degeneration	30.2	TTC21B TMEM67 NPHP4 NPHP3 NPHP1 CEP290
11	short-rib thoracic dysplasia 9 with or without polydactyly	30.0	WDR19 TTC21B
12	joubert syndrome 4	30.0	TTC21B TMEM67 NPHP4 NPHP1 IQCB1 CEP290
13	ciliopathy	29.8	TTC21B TMEM67 NPHP4 IQCB1 CEP290
14	coloboma of macula	29.7	TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
15	cystic kidney disease	29.6	TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
16	coach syndrome 1	29.5	TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
17	retinitis pigmentosa	29.3	WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
18	nephronophthisis 2	28.8	TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
19	joubert syndrome 1	28.8	WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
20	fundus dystrophy	28.7	WDR19 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3
21	nephronophthisis	28.0	WDR19 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3-AS1
22	alsing syndrome	11.1
23	arima syndrome	11.0
24	chronic kidney disease	10.4
25	cone-rod dystrophy 13	10.3	NPHP4 IQCB1
26	retinal ciliopathy	10.3	IQCB1 CEP290
27	joubert syndrome 15	10.3	NPHP4 NPHP1
28	joubert syndrome 14	10.3	NPHP4 NPHP1
29	neuroretinitis	10.3
30	retinitis	10.3
31	end stage renal disease	10.3
32	renal dysplasia, cystic	10.3	NPHP3 CEP290
33	senior-loken syndrome 6	10.3	CEP290 C12orf29
34	joubert syndrome 24	10.3	NPHP1 CEP290
35	leber congenital amaurosis 3	10.2	NPHP4 IQCB1 CEP290
36	joubert syndrome 10	10.2	TMEM67 NPHP1
37	late-onset nephronophthisis	10.2	NPHP3 MAPKBP1
38	leber congenital amaurosis 10	10.2	IQCB1 CEP290 C12orf29
39	renal-hepatic-pancreatic dysplasia 1	10.2	NPHP3-AS1 NPHP3-ACAD11 NPHP3
40	ocular motor apraxia	10.2
41	joubert syndrome 6	10.2	TMEM67 NPHP1 CEP290
42	meckel syndrome, type 7	10.2	NPHP3-AS1 NPHP3-ACAD11 NPHP3
43	leber congenital amaurosis 8	10.2	IQCB1 CEP290
44	joubert syndrome 7	10.2	TMEM67 NPHP1 CEP290
45	joubert syndrome 2	10.2	TMEM67 NPHP1 CEP290
46	meckel syndrome, type 8	10.2	TMEM67 NPHP3
47	polycystic kidney disease 2 with or without polycystic liver disease	10.2	TMEM67 NPHP4 INVS
48	meckel syndrome, type 2	10.2	TMEM67 NPHP4 CEP290
49	joubert syndrome 9	10.2	TMEM67 CEP290
50	orofaciodigital syndrome vi	10.2	TMEM67 NPHP1 CEP290

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

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Symptoms & Phenotypes for Juvenile Nephronophthisis

UMLS symptoms related to Juvenile Nephronophthisis:

polydipsia, polyuria

MGI Mouse Phenotypes related to Juvenile Nephronophthisis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.9	ADAMTS9 CEP290 GLIS2 INVS KITLG NPHP1
2	craniofacial	MP:0005382	9.5	ADAMTS9 CEP290 KITLG NPHP3 TMEM67 TTC21B
3	renal/urinary system	MP:0005367	9.23	CEP290 GLIS2 INVS NPHP1 NPHP3 NPHP4

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Drugs & Therapeutics for Juvenile Nephronophthisis

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

Search NIH Clinical Center for Juvenile Nephronophthisis

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Genetic Tests for Juvenile Nephronophthisis

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Anatomical Context for Juvenile Nephronophthisis

MalaCards organs/tissues related to Juvenile Nephronophthisis:

⁴⁰

Kidney, Eye, Retina

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Publications for Juvenile Nephronophthisis

Articles related to Juvenile Nephronophthisis:

(show top 50) (show all 202)

#	Title	Authors	PMID	Year
1	The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. ⁶	Toriyama M...Wallingford JB	27158779	2016
2	Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. ⁶¹	Abdelwahed M...Belguith N	31402777	2021
3	Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome. ⁶¹	Ning K...Sun Y	33306870	2020
4	Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. ⁶¹	Nuovo S...Emma F	30403813	2020
5	Bilateral primary renal diffuse large B-cell lymphoma: a rare presentation of paediatric renal disease mimicking juvenile nephronophthisis. ⁶¹	Bruce G...Reynolds B	32675115	2020
6	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
7	Living-Related Kidney Transplantation in a Patient with Juvenile Nephronophthisis. ⁶¹	Vnucak M...Dedinska I	32906116	2020
8	Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1. ⁶¹	Chen H...Sun L	31523374	2019
9	Renal Replacement Therapy in Children in Lithuania: Challenges, Trends, and Outcomes. ⁶¹	Virsilas E...Jankauskiene A	30400223	2018
10	[Identification of a new mutation of the NPHP1 gene]. ⁶¹	La Russa A...Bonofiglio R	29786190	2018
11	Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. ⁶¹	Konig J...Gesellschaft fur Padiatrische Nephrologie (GPN)	29146700	2017
12	Juvenile nephronophthisis and dysthyroidism: a rare association. ⁶¹	Amiri FS...Kariminejad A	28509138	2017
13	Successful resumption of peritoneal dialysis following living donor liver transplantation in children with end-stage renal disease. ⁶¹	Kanazawa H...Kasahara M	28213931	2017
14	Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus. ⁶¹	Scherdel P...Chalumeau M	28448550	2017
15	[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]. ⁶¹	Sun LZ...Chen HM	27806791	2016
16	Senior Loken Syndrome. ⁶¹	Kaur A...Goyal RK	28050464	2016
17	Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ⁶¹	Kang HG...Cheong HI	27491411	2016
18	Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ⁶¹	Chan SC...MacDonald IM	27316287	2016
19	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
20	Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility. ⁶¹	Devi AN...Kumar PG	26198798	2015
21	Senior- loken syndrome - a ciliopathy. ⁶¹	R H	25584255	2014
22	A family with five siblings affected with nephronophthisis. ⁶¹	Albaramki J...Wahbeh A	24821164	2014
23	Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome. ⁶¹	Tong H...Wang H	24674142	2013
24	Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. ⁶¹	Deacon BS...Schaefer GB	23683649	2013
25	Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. ⁶¹	Onoe T...Kawano M	23569556	2013
26	The Senior-Loken syndrome: Two cases from the State of Qatar. ⁶¹	Othman M...Bakr A	23205360	2012
27	Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ⁶¹	Sugimoto K...Takemura T	21265929	2011
28	Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience. ⁶¹	Tayfur AC...Bakkaloglu A	21486612	2011
29	End-stage juvenile nephronophthisis on MRI. ⁶¹	Stafrace S...Khan J	20182708	2010
30	A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. ⁶¹	Bellavia S...Pirson Y	20798123	2010
31	Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? ⁶¹	Simms RJ...Sayer JA	20490483	2010
32	Senior-Loken syndrome in an Iranian family. ⁶¹	Roozbeh J...Sharifian M	20587883	2010
33	Clinical and molecular features of Joubert syndrome and related disorders. ⁶¹	Parisi MA	19876931	2009
34	Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. ⁶¹	Jiang ST...Li H	19208653	2009
35	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
36	Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. ⁶¹	Hoyer J...Rauch A	17601928	2007
37	Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy. ⁶¹	Sato T...Ikeda T	25390787	2007
38	The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. ⁶¹	Baala L...Attie-Bitach T	17160906	2007
39	Twins with senior-Loken syndrome. ⁶¹	Giridhar S...Senguttuvan P	17127790	2006
40	[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]. ⁶¹	Sellami D...Feki J	17114995	2006
41	Persistent post-transplant polyuria managed by bilateral native-kidney laparoscopic nephrectomy. ⁶¹	Kravarusic D...Grisaru S	16703380	2006
42	Renal cystic diseases: a review. ⁶¹	Bisceglia M...Sessa A	16462154	2006
43	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
44	Distinguishing the four genetic causes of Jouberts syndrome-related disorders. ⁶¹	Valente EM...Gleeson JG	15786477	2005
45	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
46	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
47	[Two cases of Senior-Loken syndrome]. ⁶¹	Oyama T...Abe H	14969091	2004
48	Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. ⁶¹	Stavrou C...Pierides A	13679497	2003
49	Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis. ⁶¹	Winn MP	12953036	2003
50	Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. ⁶¹	Johnson CA...Sergi C	12746391	2003

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Genes for Juvenile Nephronophthisis

Genes related to Juvenile Nephronophthisis (19 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NPHP1	Nephrocystin 1	Protein Coding	802.9	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ GeneCards inferred via : Publications Gene name Summaries (show sections)
2	NPHP4	Nephrocystin 4	Protein Coding	782.46	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ GeneCards inferred via : Publications (show sections)
3	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	750	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸
4	INVS	Inversin	Protein Coding	431.91	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Publications (show sections)
5	CEP290	Centrosomal Protein 290	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
6	NPHP3-ACAD11	NPHP3-ACAD11 Readthrough (NMD Candidate)	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶
7	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
8	NPHP3	Nephrocystin 3	Protein Coding	407.41	Pathogenic ⁶ GeneCards inferred via : Disorders (show sections)
9	IQCB1	IQ Motif Containing B1	Protein Coding	407.26	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
10	MALL	Mal, T Cell Differentiation Protein Like	Protein Coding	407.26	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
11	C12orf29	Chromosome 12 Open Reading Frame 29	Protein Coding	400	Pathogenic ⁶
12	KITLG	KIT Ligand	Protein Coding	400	Pathogenic ⁶
13	NPHP3-AS1	NPHP3 Antisense RNA 1	RNA Gene	400	Pathogenic ⁶
14	TMEM67	Transmembrane Protein 67	Protein Coding	400	Pathogenic ⁶
15	TTC21B-AS1	TTC21B Antisense RNA 1	RNA Gene	400	Pathogenic ⁶
16	ADAMTS9	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9	Protein Coding	350	Causative germline mutation ⁵⁸
17	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	350	Causative germline mutation ⁵⁸
18	MAPKBP1	Mitogen-Activated Protein Kinase Binding Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
19	WDR19	WD Repeat Domain 19	Protein Coding	350	Causative germline mutation ⁵⁸
20	FAM186B	Family With Sequence Similarity 186 Member B	Protein Coding	25	Likely pathogenic ⁶
21	INCENP	Inner Centromere Protein	Protein Coding	25	Likely pathogenic ⁶
22	INTU	Inturned Planar Cell Polarity Protein	Protein Coding	25	Likely pathogenic ⁶	27158779

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Variations for Juvenile Nephronophthisis

ClinVar genetic disease variations for Juvenile Nephronophthisis:

⁶ (show top 50) (show all 1446)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NPHP3-ACAD11	NM_153240.5(NPHP3):c.1976del (p.Pro659fs)	Deletion	Pathogenic	836028		3:132418206-132418206	3:132699362-132699362
2	NPHP3-ACAD11	NM_153240.5(NPHP3):c.1985+1G>A	SNV	Pathogenic	462725	rs1553773271	3:132418196-132418196	3:132699352-132699352
3	NPHP3-ACAD11	NM_153240.5(NPHP3):c.958-2A>G	SNV	Pathogenic	848816		3:132432132-132432132	3:132713288-132713288
4	NPHP3-ACAD11	NM_153240.5(NPHP3):c.3003del (p.Phe1001fs)	Deletion	Pathogenic	853024		3:132407616-132407616	3:132688772-132688772
5	NPHP3-ACAD11	NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)	SNV	Pathogenic	570632	rs758238787	3:132406067-132406067	3:132687223-132687223
6	NPHP3	NC_000003.12:g.(?_132681890)_(132684814_?)del	Deletion	Pathogenic	832293		3:132400734-132403658
7	NPHP1	NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del	Deletion	Pathogenic	224960
8	NPHP1	2q13 deletion (290 kb)	Deletion	Pathogenic	242361
9	MALL	NC_000002.12:g.(?_110091603)_(110204968_?)del	Deletion	Pathogenic	830720		2:110849180-110962545
10	NPHP1	NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)	SNV	Pathogenic	838041		2:110922714-110922714	2:110165137-110165137
11	NPHP1	NC_000002.12:g.(?_110144493)_(110150256_?)del	Deletion	Pathogenic	833115		2:110902070-110907833
12	NPHP1	NC_000002.12:g.(?_110123791)_(110201494_?)del	Deletion	Pathogenic	833368		2:110881368-110959071
13	NPHP1	NM_001128178.3(NPHP1):c.1977del (p.Phe659fs)	Deletion	Pathogenic	854284		2:110881425-110881425	2:110123848-110123848
14	NPHP4	NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)	SNV	Pathogenic	639470	rs758275952	1:5927947-5927947	1:5867887-5867887
15	NPHP3-AS1	NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter)	SNV	Pathogenic	462730	rs773521620	3:132441140-132441140	3:132722296-132722296
16	NPHP3-ACAD11	NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)	SNV	Pathogenic	571559	rs201237799	3:132410043-132410043	3:132691199-132691199
17	NPHP3-ACAD11	NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)	SNV	Pathogenic	936828		3:132407950-132407950	3:132689106-132689106
18	NPHP4	NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter)	SNV	Pathogenic	939682		1:5965750-5965750	1:5905690-5905690
19	NPHP4	NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)	Deletion	Pathogenic	943026		1:6008281-6008288	1:5948221-5948228
20	NPHP3-ACAD11	NM_153240.5(NPHP3):c.3812+1G>T	SNV	Pathogenic	944911		3:132401546-132401546	3:132682702-132682702
21	NPHP4	NM_015102.5(NPHP4):c.2304+1G>A	SNV	Pathogenic	949949		1:5950927-5950927	1:5890867-5890867
22	NPHP3-ACAD11	NM_153240.5(NPHP3):c.436del (p.Ser146fs)	Deletion	Pathogenic	946397		3:132438632-132438632	3:132719788-132719788
23	NPHP3-ACAD11	NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)	SNV	Pathogenic	949269		3:132407508-132407508	3:132688664-132688664
24	NPHP1	NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter)	SNV	Pathogenic	961075		2:110883250-110883250	2:110125673-110125673
25	NPHP1	NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter)	SNV	Pathogenic	965173		2:110902109-110902109	2:110144532-110144532
26	NPHP4	NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)	Deletion	Pathogenic	562366	rs1368105372	1:5965415-5965418	1:5905355-5905358
27	NPHP3-ACAD11	NM_153240.5(NPHP3):c.410del (p.Tyr137fs)	Deletion	Pathogenic	571089	rs1560017690	3:132438658-132438658	3:132719814-132719814
28	NPHP3-ACAD11	NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter)	SNV	Pathogenic	573010	rs1560000875	3:132405124-132405124	3:132686280-132686280
29	NPHP1	NM_000272.4(NPHP1):c.1039C>T (p.Arg347Ter)	SNV	Pathogenic	579607	rs765263671	2:110919263-110919263	2:110161686-110161686
30	NPHP3-ACAD11	NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs)	Duplication	Pathogenic	411105	rs771215577	3:132406039-132406040	3:132687195-132687196
31	NPHP3-ACAD11	NM_153240.5(NPHP3):c.2956dup (p.Gln986fs)	Duplication	Pathogenic	571434	rs1560002147	3:132407662-132407663	3:132688818-132688819
32	NPHP1	NM_001128178.3(NPHP1):c.771+77_771+78del	Microsatellite	Pathogenic	861607		2:110922187-110922188	2:110164610-110164611
33	INVS	NM_014425.5(INVS):c.3125del (p.Asn1042fs)	Deletion	Pathogenic	242359	rs878855333	9:103062882-103062882	9:100300600-100300600
34	GLIS2	NM_032575.2(GLIS2):c.775+1G>T	SNV	Pathogenic	242364	rs878855335	16:4385395-4385395	16:4335394-4335394
35	INVS	NM_014425.5(INVS):c.1417del (p.Ala473fs)	Deletion	Pathogenic	242358	rs878855332	9:103015370-103015370	9:100253088-100253088
36	NPHP4	NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs)	Deletion	Pathogenic	956880		1:5967200-5967201	1:5907140-5907141
37	INVS	NM_014425.5(INVS):c.177_180dup (p.Leu61fs)	Duplication	Pathogenic	568738	rs1564123602	9:102888732-102888733	9:100126450-100126451
38	IQCB1	NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)	SNV	Pathogenic	569196	rs1280238814	3:121491467-121491467	3:121772620-121772620
39	INVS	NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)	SNV	Pathogenic	531629	rs150001738	9:103046873-103046873	9:100284591-100284591
40	INVS	NM_014425.5(INVS):c.2972C>G (p.Ser991Ter)	SNV	Pathogenic	834292		9:103059384-103059384	9:100297102-100297102
41	INVS	NM_014425.5(INVS):c.671_672CT[1] (p.Leu225fs)	Microsatellite	Pathogenic	859885		9:103002397-103002398	9:100240115-100240116
42	INVS	NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)	SNV	Pathogenic	567470	rs1425211517	9:103059299-103059299	9:100297017-100297017
43	IQCB1	NC_000003.12:g.(?_121772557)_(121781874_?)del	Deletion	Pathogenic	830596		3:121491404-121500721
44	INVS	NM_014425.5(INVS):c.2002G>T (p.Gly668Ter)	SNV	Pathogenic	939728		9:103046819-103046819	9:100284537-100284537
45	IQCB1	NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)	SNV	Pathogenic	942614		3:121515979-121515979	3:121797132-121797132
46	IQCB1	NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs)	Insertion	Pathogenic	967126		3:121514370-121514371	3:121795523-121795524
47	IQCB1	NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)	SNV	Pathogenic	167197	rs727503968	3:121508959-121508959	3:121790112-121790112
48	NPHP4	NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)	SNV	Pathogenic	596144	rs1210874691	1:5987793-5987793	1:5927733-5927733
49	NPHP4	NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)	Duplication	Pathogenic	496917	rs398124289	1:5935033-5935034	1:5874973-5874974
50	NPHP1	NM_000272.4(NPHP1):c.1184dup (p.Leu396fs)	Duplication	Pathogenic	92716	rs398123285	2:110917770-110917771	2:110160193-110160194

Sources

Expression for Juvenile Nephronophthisis

Search GEO for disease gene expression data for Juvenile Nephronophthisis.

Sources

Pathways for Juvenile Nephronophthisis

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	11.95	WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1

Sources

GO Terms for Juvenile Nephronophthisis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.96	WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
2	cytoskeleton	GO:0005856	9.9	WDR19 TTC21B TMEM67 NPHP4 NPHP3-ACAD11 NPHP1
3	ciliary transition zone	GO:0035869	9.58	TMEM67 NPHP4 CEP290
4	non-motile cilium	GO:0097730	9.5	WDR19 NPHP4 GLIS2
5	MKS complex	GO:0036038	9.46	TMEM67 CEP290
6	intraciliary transport particle A	GO:0030991	9.43	WDR19 TTC21B
7	ciliary inversin compartment	GO:0097543	9.37	INVS ANKS6
8	photoreceptor connecting cilium	GO:0032391	9.35	WDR19 NPHP4 NPHP1 IQCB1 CEP290
9	cilium	GO:0005929	9.32	WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	kidney development	GO:0001822	9.63	NPHP3 GLIS2 ANKS6
2	cilium assembly	GO:0060271	9.55	WDR19 TMEM67 NPHP3 IQCB1 CEP290
3	photoreceptor cell maintenance	GO:0045494	9.5	NPHP4 NPHP3 IQCB1
4	intraciliary retrograde transport	GO:0035721	9.43	WDR19 TTC21B
5	positive regulation of bicellular tight junction assembly	GO:1903348	9.4	NPHP4 NPHP1
6	maintenance of animal organ identity	GO:0048496	9.37	NPHP3 IQCB1
7	cell projection organization	GO:0030030	9.35	WDR19 TMEM67 NPHP1 IQCB1 CEP290
8	visual behavior	GO:0007632	9.26	NPHP4 NPHP1
9	ciliary basal body-plasma membrane docking	GO:0097711	9.02	TMEM67 NPHP4 NPHP1 IQCB1 CEP290

Sources

Sources for Juvenile Nephronophthisis

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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