MCID: JVN041
MIFTS: 38

Juvenile Nephronophthisis

Categories: Nephrological diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Juvenile Nephronophthisis

MalaCards integrated aliases for Juvenile Nephronophthisis:

Name: Juvenile Nephronophthisis 59
Nephronophthisis, Familial Juvenile 73
Nephronophthisis 73

Characteristics:

Orphanet epidemiological data:

59
juvenile nephronophthisis
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA93592
UMLS via Orphanet 74 C1855681
ICD10 via Orphanet 34 Q61.5
UMLS 73 C1855681

Summaries for Juvenile Nephronophthisis

MalaCards based summary : Juvenile Nephronophthisis, also known as nephronophthisis, familial juvenile, is related to nephronophthisis 4 and nephronophthisis 1, and has symptoms including polyuria and polydipsia. An important gene associated with Juvenile Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotype is renal/urinary system.

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 all 45)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 4 32.2 NPHP1 NPHP4
2 nephronophthisis 1 32.0 INVS NPHP1 NPHP3 NPHP4
3 senior-loken syndrome 1 29.8 INVS IQCB1 NPHP1 NPHP3 NPHP4 WDR19
4 cystic kidney disease 29.3 INVS NPHP1 NPHP3 NPHP4
5 joubert syndrome 1 29.2 INVS IQCB1 NPHP1 NPHP4
6 retinitis pigmentosa 27.4 INVS IQCB1 NPHP1 NPHP3 NPHP4 WDR19
7 nephronophthisis 25.9 ANKS6 GLIS2 INVS IQCB1 MALL MAPKBP1
8 alsing syndrome 11.0
9 medullary cystic kidney disease 1 11.0
10 arima syndrome 11.0
11 nephronophthisis 3 11.0
12 hyperuricemic nephropathy, familial juvenile, 1 10.3 NPHP1 NPHP4
13 retinitis 10.2
14 polycystic liver disease 1 with or without kidney cysts 10.1 NPHP1 NPHP4
15 bardet-biedl syndrome 13 10.1 INVS NPHP3
16 retinal aplasia 10.1 IQCB1 NPHP1 NPHP4
17 senior-løken syndrome 10.1 IQCB1 NPHP3 NPHP4
18 hepatitis 10.1
19 apraxia 10.0
20 ocular motor apraxia 10.0
21 kidney disease 10.0
22 renal-hepatic-pancreatic dysplasia 9.9 INVS IQCB1 NPHP3
23 visceral heterotaxy 9.9 INVS NPHP1 NPHP3
24 late-onset nephronophthisis 9.9 MAPKBP1 NPHP3
25 peripheral dysostosis 9.8
26 gout 9.8
27 epilepsy 9.8
28 dysostosis 9.8
29 uremia 9.8
30 renal tubular dysgenesis 9.8
31 pancreatitis 9.8
32 aceruloplasminemia 9.8
33 retinal degeneration 9.8
34 type i 9.8
35 leber congenital amaurosis 4 9.8
36 congenital hepatic fibrosis 9.8
37 ataxia-oculomotor apraxia 3 9.8
38 meckel syndrome, type 1 9.8 INVS NPHP1 NPHP4
39 renal fibrosis 9.8 NPHP1 NPHP4
40 nephronophthisis 2 9.6 INVS NPHP1 NPHP3 NPHP4
41 leber congenital amaurosis 9.6 IQCB1 NPHP1 NPHP3 NPHP4
42 cogan syndrome 9.6 INVS NPHP1 NPHP3 NPHP4
43 bardet-biedl syndrome 9.5 INVS NPHP1 NPHP4
44 infantile nephronophthisis 9.4 ANKS6 INVS NPHP3 NPHP4
45 interstitial nephritis 9.1 ANKS6 INVS MAPKBP1

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



Diseases related to Juvenile Nephronophthisis

Symptoms & Phenotypes for Juvenile Nephronophthisis

UMLS symptoms related to Juvenile Nephronophthisis:


polyuria, polydipsia

MGI Mouse Phenotypes related to Juvenile Nephronophthisis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 GLIS2 INVS NPHP1 NPHP3 NPHP4

Drugs & Therapeutics for Juvenile Nephronophthisis

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 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957 Not Applicable
2 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
3 Hereditary Tubulointerstitial Nephritis Completed NCT01312727 Not Applicable
4 Somatosensory Modulation of Salivary Gene Expression and Oral Feeding in Preterm Infants Recruiting NCT02696343 Not Applicable
5 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
6 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Juvenile Nephronophthisis

Genetic Tests for Juvenile Nephronophthisis

Anatomical Context for Juvenile Nephronophthisis

MalaCards organs/tissues related to Juvenile Nephronophthisis:

41
Kidney, Liver

Publications for Juvenile Nephronophthisis

Articles related to Juvenile Nephronophthisis:

(show top 50) (show all 88)
# Title Authors Year
1
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138 )
2017
2
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
3
Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience. ( 21486612 )
2011
4
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ( 21265929 )
2011
5
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. ( 20798123 )
2010
6
End-stage juvenile nephronophthisis on MRI. ( 20182708 )
2010
7
Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? ( 20490483 )
2010
8
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. ( 15723349 )
2005
9
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. ( 15138899 )
2004
10
Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I. ( 12699867 )
2003
11
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. ( 12244321 )
2002
12
Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis. ( 12138259 )
2002
13
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. ( 11168925 )
2001
14
Juvenile nephronophthisis and related variants: clinical features and molecular approach. ( 11688404 )
2001
15
Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis. ( 11382680 )
2001
16
Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening. ( 10620543 )
2000
17
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints. ( 10980528 )
2000
18
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ( 10839884 )
2000
19
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. ( 10712196 )
2000
20
Familial juvenile nephronophthisis. ( 9587065 )
1998
21
Sonographic findings in familial juvenile nephronophthisis-medullary cystic disease complex. ( 9572384 )
1998
22
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. ( 9598719 )
1998
23
Familial juvenile nephronophthisis. An ultrasonographic follow-up of seven patients. ( 9498877 )
1998
24
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. ( 9361039 )
1997
25
Juvenile nephronophthisis-medullary cystic disease complex: a family study. ( 9151464 )
1997
26
Sonographic appearance of the juvenile nephronophthisis-cystic renal medulla complex. ( 9075164 )
1997
27
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fA1r PAodiatrische Nephrologie. ( 8995741 )
1997
28
Thin-section computed tomography scans detect medullary cysts in patients believed to have juvenile nephronophthisis. ( 8659496 )
1996
29
Ultrasound findings in juvenile nephronophthisis. ( 8611349 )
1996
30
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. ( 8852662 )
1996
31
Mechanism underlying early anaemia in children with familial juvenile nephronophthisis. ( 8897559 )
1996
32
Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13. ( 8697815 )
1996
33
Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group. ( 7789968 )
1995
34
Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease). ( 7572421 )
1995
35
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q. ( 8825638 )
1995
36
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. ( 7806215 )
1994
37
Clinical quiz. Familial juvenile nephronophthisis. ( 7947053 )
1994
38
Radiological cases of the month. Juvenile nephronophthisis. ( 8213686 )
1993
39
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. ( 7981755 )
1993
40
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group. ( 8250041 )
1993
41
Familial juvenile nephronophthisis and renal transplantation in two siblings. ( 1479732 )
1992
42
Severe tubular resistance to aldosterone in a child with familial juvenile nephronophthisis. ( 1536742 )
1992
43
Familial juvenile nephronophthisis in two siblings--histological findings at an early stage. ( 1792907 )
1991
44
Juvenile nephronophthisis diagnosed from glucosuria detected by urine screening at school. ( 2284933 )
1990
45
Rate of deterioration of renal function in juvenile nephronophthisis. ( 2702089 )
1989
46
Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis. ( 2929712 )
1989
47
Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis. ( 2745140 )
1989
48
Juvenile nephronophthisis with calcification of basal ganglia and pancreatic insufficiency. ( 3377663 )
1988
49
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality. ( 3231430 )
1988
50
Familial juvenile nephronophthisis. A review and differential diagnosis. ( 3510794 )
1986

Variations for Juvenile Nephronophthisis

ClinVar genetic disease variations for Juvenile Nephronophthisis:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP1 NPHP1, IVS18, G-T, +1 single nucleotide variant Pathogenic
2 NPHP1 NPHP1, IVS14, 1-BP DEL, G, +1 deletion Pathogenic
3 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh37 Chromosome 2, 110959061: 110959061
4 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh38 Chromosome 2, 110201484: 110201484
5 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh37 Chromosome 2, 110920625: 110920625
6 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh38 Chromosome 2, 110163048: 110163048
7 NPHP1 NPHP1, DEL deletion Pathogenic
8 NPHP1 NM_000272.3(NPHP1): c.1184dupC (p.Leu396Serfs) duplication Pathogenic rs398123285 GRCh37 Chromosome 2, 110917771: 110917771
9 NPHP1 NM_000272.3(NPHP1): c.1184dupC (p.Leu396Serfs) duplication Pathogenic rs398123285 GRCh38 Chromosome 2, 110160194: 110160194
10 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh38 Chromosome 2, 110165158: 110165158
11 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh37 Chromosome 2, 110922735: 110922735
12 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh37 Chromosome 2, 110936097: 110936097
13 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh38 Chromosome 2, 110178520: 110178520
14 NPHP1 NM_000272.3(NPHP1): c.555dupA (p.Pro186Thrfs) duplication Pathogenic rs886042650 GRCh37 Chromosome 2, 110926098: 110926098
15 NPHP1 NM_000272.3(NPHP1): c.555dupA (p.Pro186Thrfs) duplication Pathogenic rs886042650 GRCh38 Chromosome 2, 110168521: 110168521
16 NPHP1 NM_000272.3(NPHP1): c.1529_1530delAG (p.Glu510Alafs) deletion Pathogenic GRCh37 Chromosome 2, 110902137: 110902138
17 NPHP1 NM_000272.3(NPHP1): c.1529_1530delAG (p.Glu510Alafs) deletion Pathogenic GRCh38 Chromosome 2, 110144560: 110144561
18 NPHP1 NC_000002.11: g.110852960_110975102del122143 deletion Pathogenic GRCh37 Chromosome 2, 110852960: 110975102

Expression for Juvenile Nephronophthisis

Search GEO for disease gene expression data for Juvenile Nephronophthisis.

Pathways for Juvenile Nephronophthisis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 IQCB1 NPHP1 NPHP3 NPHP4 WDR19

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 cytoskeleton GO:0005856 9.8 INVS IQCB1 MAPKBP1 NPHP1 NPHP4 WDR19
2 cell projection GO:0042995 9.73 ANKS6 INVS NPHP1 NPHP3 NPHP4 WDR19
3 photoreceptor outer segment GO:0001750 9.37 IQCB1 WDR19
4 non-motile cilium GO:0097730 9.33 GLIS2 NPHP4 WDR19
5 photoreceptor connecting cilium GO:0032391 9.26 IQCB1 NPHP1 NPHP4 WDR19
6 cilium GO:0005929 9.1 ANKS6 INVS NPHP1 NPHP3 NPHP4 WDR19

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.61 IQCB1 NPHP3 WDR19
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.58 INVS NPHP3 NPHP4
3 cell projection organization GO:0030030 9.54 IQCB1 NPHP1 WDR19
4 ciliary basal body-plasma membrane docking GO:0097711 9.5 IQCB1 NPHP1 NPHP4
5 retina development in camera-type eye GO:0060041 9.46 NPHP1 NPHP4
6 maintenance of animal organ identity GO:0048496 9.26 IQCB1 NPHP3
7 visual behavior GO:0007632 9.16 NPHP1 NPHP4
8 positive regulation of bicellular tight junction assembly GO:1903348 8.96 NPHP1 NPHP4
9 photoreceptor cell maintenance GO:0045494 8.8 IQCB1 NPHP3 NPHP4

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 ANKS6 GLIS2 INVS IQCB1 MALL MAPKBP1

Sources for Juvenile Nephronophthisis

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
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